Transcriptional regulator PRDM12 is essential for human pain perception

Geoffrey Woods, Jan Senderek and colleagues show that biallelic mutations in PRDM12 cause congenital insensitivity to pain. They further show that PRDM12 is expressed in nociceptors and their progenitors and participates in sensory neuron development in Xenopus . Pain perception has evolved as a war...

Full description

Saved in:
Bibliographic Details
Published inNature genetics Vol. 47; no. 7; pp. 803 - 808
Main Authors Chen, Ya-Chun, Auer-Grumbach, Michaela, Matsukawa, Shinya, Zitzelsberger, Manuela, Themistocleous, Andreas C, Strom, Tim M, Samara, Chrysanthi, Moore, Adrian W, Cho, Lily Ting-Yin, Young, Gareth T, Weiss, Caecilia, Schabhüttl, Maria, Stucka, Rolf, Schmid, Annina B, Parman, Yesim, Graul-Neumann, Luitgard, Heinritz, Wolfram, Passarge, Eberhard, Watson, Rosemarie M, Hertz, Jens Michael, Moog, Ute, Baumgartner, Manuela, Valente, Enza Maria, Pereira, Diego, Restrepo, Carlos M, Katona, Istvan, Dusl, Marina, Stendel, Claudia, Wieland, Thomas, Stafford, Fay, Reimann, Frank, von Au, Katja, Finke, Christian, Willems, Patrick J, Nahorski, Michael S, Shaikh, Samiha S, Carvalho, Ofélia P, Nicholas, Adeline K, Karbani, Gulshan, McAleer, Maeve A, Cilio, Maria Roberta, McHugh, John C, Murphy, Sinead M, Irvine, Alan D, Jensen, Uffe Birk, Windhager, Reinhard, Weis, Joachim, Bergmann, Carsten, Rautenstrauss, Bernd, Baets, Jonathan, De Jonghe, Peter, Reilly, Mary M, Kropatsch, Regina, Kurth, Ingo, Chrast, Roman, Michiue, Tatsuo, Bennett, David L H, Woods, C Geoffrey, Senderek, Jan
Format Journal Article
LanguageEnglish
Published New York Nature Publishing Group US 01.07.2015
Nature Publishing Group
Subjects
13
13/100
14/63
38
45
45/23
631/208/1516
692/699/375/430
Agriculture
Animal Genetics and Genomics
Animals
Biomedical research
Biomedicine
Biopsy
Cancer Research
Carrier Proteins - genetics
Carrier Proteins - metabolism
Chlorocebus aethiops
Consanguinity
COS Cells
Epigenetics
Female
Gene Function
Gene mutations
Genes
Genetic aspects
Genetic Association Studies
Genetic regulation
Health aspects
Hereditary Sensory and Autonomic Neuropathies - genetics
Human Genetics
Humans
Identification and classification
letter
Male
Medical treatment
Mutation
Nerve Tissue Proteins - genetics
Nerve Tissue Proteins - metabolism
Neurogenesis
Nociception
Nociceptors - metabolism
Pain Insensitivity, Congenital - genetics
Pain Perception
Patients
Pedigree
Polymorphism, Single Nucleotide
Proteins
Stem cells
Studies
Xenopus laevis
Online AccessGet full text

Cover

Abstract Geoffrey Woods, Jan Senderek and colleagues show that biallelic mutations in PRDM12 cause congenital insensitivity to pain. They further show that PRDM12 is expressed in nociceptors and their progenitors and participates in sensory neuron development in Xenopus . Pain perception has evolved as a warning mechanism to alert organisms to tissue damage and dangerous environments 1 , 2 . In humans, however, undesirable, excessive or chronic pain is a common and major societal burden for which available medical treatments are currently suboptimal 3 , 4 . New therapeutic options have recently been derived from studies of individuals with congenital insensitivity to pain (CIP) 5 , 6 . Here we identified 10 different homozygous mutations in PRDM12 (encoding PRDI-BF1 and RIZ homology domain-containing protein 12) in subjects with CIP from 11 families. Prdm proteins are a family of epigenetic regulators that control neural specification and neurogenesis 7 , 8 . We determined that Prdm12 is expressed in nociceptors and their progenitors and participates in the development of sensory neurons in Xenopus embryos. Moreover, CIP-associated mutants abrogate the histone-modifying potential associated with wild-type Prdm12. Prdm12 emerges as a key factor in the orchestration of sensory neurogenesis and may hold promise as a target for new pain therapeutics 9 , 10 .
AbstractList Pain perception has evolved as a warning mechanism to alert organisms to tissue damage and dangerous environments1,2. In humans, however, undesirable, excessive or chronic pain is a common and major societal burden for which available medical treatments are currently suboptimal3,4. New therapeutic options have recently been derived from studies of individuals with congenital insensitivity to pain (CIP)5,6. Here we identified 10 different homozygous mutations in PRDM12 (encoding PRDI-BF1 and RIZ homology domain-containing protein 12) in subjects with CIP from 11 families. Prdm proteins are a family of epigenetic regulators that control neural specification and neurogenesis7,8. We determined that Prdm12 is expressed in nociceptors and their progenitors and participates in the development of sensory neurons in Xenopus embryos. Moreover, CIP-associated mutants abrogate the histone-modifying potential associated with wild-type Prdm12. Prdm12 emerges as a key factor in the orchestration of sensory neurogenesis and may hold promise as a target for new pain therapeutics9,10.
Pain perception has evolved as a warning mechanism to alert organisms to tissue damage and dangerous environments 1 , 2 . In humans, however, undesirable, excessive or chronic pain is a common and major societal burden for which available medical treatments are currently suboptimal 3 , 4 . New therapeutic options have recently been derived from studies of individuals with congenital insensitivity to pain (CIP) 5 , 6 . Here we identified 10 different homozygous mutations in PRDM12 (encoding PRDI-BF1 and RIZ homology domain-containing protein 12) in subjects with CIP from 11 families. Prdm proteins are a family of epigenetic regulators that control neural specification and neurogenesis 7 , 8 . We determined that Prdm12 is expressed in nociceptors and their progenitors and participates in the development of sensory neurons in Xenopus embryos. Moreover, CIP-associated mutants abrogate the histone-modifying potential associated with wild-type Prdm12. Prdm12 emerges as a key factor in the orchestration of sensory neurogenesis and may hold promise as a target for new pain therapeutics 9 , 10 .
Geoffrey Woods, Jan Senderek and colleagues show that biallelic mutations in PRDM12 cause congenital insensitivity to pain. They further show that PRDM12 is expressed in nociceptors and their progenitors and participates in sensory neuron development in Xenopus . Pain perception has evolved as a warning mechanism to alert organisms to tissue damage and dangerous environments 1 , 2 . In humans, however, undesirable, excessive or chronic pain is a common and major societal burden for which available medical treatments are currently suboptimal 3 , 4 . New therapeutic options have recently been derived from studies of individuals with congenital insensitivity to pain (CIP) 5 , 6 . Here we identified 10 different homozygous mutations in PRDM12 (encoding PRDI-BF1 and RIZ homology domain-containing protein 12) in subjects with CIP from 11 families. Prdm proteins are a family of epigenetic regulators that control neural specification and neurogenesis 7 , 8 . We determined that Prdm12 is expressed in nociceptors and their progenitors and participates in the development of sensory neurons in Xenopus embryos. Moreover, CIP-associated mutants abrogate the histone-modifying potential associated with wild-type Prdm12. Prdm12 emerges as a key factor in the orchestration of sensory neurogenesis and may hold promise as a target for new pain therapeutics 9 , 10 .
Pain perception has evolved as a warning mechanism to alert organisms to tissue damage and dangerous environments (1,2). In humans, however, undesirable, excessive or chronic pain is a common and major societal burden for which available medical treatments are currently suboptimal (3,4). New therapeutic options have recently been derived from studies of individuals with congenital insensitivity to pain (CIP) (5,6). Here we identified 10 different homozygous mutations in PRDM12 (encoding PRDI-BF1 and RIZ homology domain-containing protein 12) in subjects with CIP from 11 families. Prdm proteins are a family of epigenetic regulators that control neural specification and neurogenesis (7,8). We determined that Prdm12 is expressed in nociceptors and their progenitors and participates in the development of sensory neurons in Xenopus embryos. Moreover, CIP-associated mutants abrogate the histone-modifying potential associated with wild-type Prdm12. Prdm12 emerges as a key factor in the orchestration of sensory neurogenesis and may hold promise as a target for new pain therapeutics (9,10).
Pain perception has evolved as a warning mechanism to alert organisms to tissue damage and dangerous environments. In humans, however, undesirable, excessive or chronic pain is a common and major societal burden for which available medical treatments are currently suboptimal. New therapeutic options have recently been derived from studies of individuals with congenital insensitivity to pain (CIP). Here we identified 10 different homozygous mutations in PRDM12 (encoding PRDI-BF1 and RIZ homology domain-containing protein 12) in subjects with CIP from 11 families. Prdm proteins are a family of epigenetic regulators that control neural specification and neurogenesis. We determined that Prdm12 is expressed in nociceptors and their progenitors and participates in the development of sensory neurons in Xenopus embryos. Moreover, CIP-associated mutants abrogate the histone-modifying potential associated with wild-type Prdm12. Prdm12 emerges as a key factor in the orchestration of sensory neurogenesis and may hold promise as a target for new pain therapeutics.Pain perception has evolved as a warning mechanism to alert organisms to tissue damage and dangerous environments. In humans, however, undesirable, excessive or chronic pain is a common and major societal burden for which available medical treatments are currently suboptimal. New therapeutic options have recently been derived from studies of individuals with congenital insensitivity to pain (CIP). Here we identified 10 different homozygous mutations in PRDM12 (encoding PRDI-BF1 and RIZ homology domain-containing protein 12) in subjects with CIP from 11 families. Prdm proteins are a family of epigenetic regulators that control neural specification and neurogenesis. We determined that Prdm12 is expressed in nociceptors and their progenitors and participates in the development of sensory neurons in Xenopus embryos. Moreover, CIP-associated mutants abrogate the histone-modifying potential associated with wild-type Prdm12. Prdm12 emerges as a key factor in the orchestration of sensory neurogenesis and may hold promise as a target for new pain therapeutics.
Pain perception has evolved as a warning mechanism to alert organisms to tissue damage and dangerous environments. In humans, however, undesirable, excessive or chronic pain is a common and major societal burden for which available medical treatments are currently suboptimal. New therapeutic options have recently been derived from studies of individuals with congenital insensitivity to pain (CIP). Here we identified 10 different homozygous mutations in PRDM12 (encoding PRDI-BF1 and RIZ homology domain-containing protein 12) in subjects with CIP from 11 families. Prdm proteins are a family of epigenetic regulators that control neural specification and neurogenesis. We determined that Prdm12 is expressed in nociceptors and their progenitors and participates in the development of sensory neurons in Xenopus embryos. Moreover, CIP-associated mutants abrogate the histone-modifying potential associated with wild-type Prdm12. Prdm12 emerges as a key factor in the orchestration of sensory neurogenesis and may hold promise as a target for new pain therapeutics.
Audience Academic
Author von Au, Katja
Stendel, Claudia
Weiss, Caecilia
Katona, Istvan
Parman, Yesim
Chen, Ya-Chun
Samara, Chrysanthi
Schmid, Annina B
Weis, Joachim
Zitzelsberger, Manuela
Baumgartner, Manuela
Murphy, Sinead M
Irvine, Alan D
Young, Gareth T
Kropatsch, Regina
Auer-Grumbach, Michaela
Senderek, Jan
Cho, Lily Ting-Yin
Themistocleous, Andreas C
Valente, Enza Maria
Carvalho, Ofélia P
Moore, Adrian W
Shaikh, Samiha S
Karbani, Gulshan
Stucka, Rolf
Willems, Patrick J
Restrepo, Carlos M
Nahorski, Michael S
Rautenstrauss, Bernd
Chrast, Roman
Nicholas, Adeline K
Bergmann, Carsten
McHugh, John C
Reimann, Frank
Jensen, Uffe Birk
Reilly, Mary M
Woods, C Geoffrey
Cilio, Maria Roberta
Watson, Rosemarie M
Matsukawa, Shinya
De Jonghe, Peter
Michiue, Tatsuo
Strom, Tim M
Pereira, Diego
Schabhüttl, Maria
Bennett, David L H
Graul-Neumann, Luitgard
Dusl, Marina
Finke, Christian
Hertz, Jens Michael
Kurth, Ingo
Wieland, Thomas
Moog, Ute
Baets, Jonathan
McAleer, Maeve A
Passarge, Eberhard
Stafford, Fay
Heinritz, Wolfram
Windhager, Reinhard
AuthorAffiliation 48 Department of Human Genetics, Ruhr-University Bochum, Bochum, Germany
9 Institute of Human Genetics, Technische Universität München, Munich, Germany
23 Neurogenetics Unit, Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
25 Unidad de Genética, Universidad del Rosario, Bogotá, Colombia
7 Brain Function Research Group, School of Physiology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
34 Department of Neuroscience, Bambino Gesù Children’s Hospital and Research Institute, Rome, Italy
51 Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden
46 Department of Neurology, Antwerp University Hospital, Antwerp, Belgium
49 Institute of Human Genetics, Jena University Hospital, Jena, Germany
15 Ambulantes Gesundheitszentrum der Charité Campus Virchow (Humangenetik), Universitätsmedizin Berlin, Berlin, Germany
44 Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium
1 Department of Med
AuthorAffiliation_xml – name: 23 Neurogenetics Unit, Casa Sollievo della Sofferenza, San Giovanni Rotondo, Italy
– name: 37 Academic Unit of Neurology, Trinity College, Dublin, Ireland
– name: 8 Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany
– name: 20 Department of Clinical Genetics, Odense University Hospital, Odense, Denmark
– name: 11 Disease Mechanism Research Core, RIKEN Brain Science Institute, Saitama, Japan
– name: 13 School of Health and Rehabilitation Sciences, The University of Queensland, St. Lucia, Australia
– name: 47 MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National Hospital for Neurology, London, UK
– name: 2 Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK
– name: 19 Department of Dermatology, Our Lady’s Children’s Hospital, Dublin, Ireland
– name: 14 Department of Neurology, Istanbul University, Istanbul, Turkey
– name: 17 Institut für Humangenetik, Universitätsklinikum Leipzig, Leipzig, Germany
– name: 22 Neuropädiatrische Ambulanz, Krankenhaus der Barmherzigen Schwestern Linz, Linz, Austria
– name: 16 Praxis für Humangenetik Cottbus, Cottbus, Germany
– name: 9 Institute of Human Genetics, Technische Universität München, Munich, Germany
– name: 45 Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium
– name: 43 Medizinisch Genetisches Zentrum, Munich, Germany
– name: 35 Department of Neurology and Neurophysiology, Our Lady’s Children’s Hospital, Dublin, Ireland
– name: 49 Institute of Human Genetics, Jena University Hospital, Jena, Germany
– name: 27 German Center for Neurodegenerative Diseases (DZNE), Munich, Germany
– name: 29 SPZ Neuropädiatrie Charité, Universitätsmedizin Berlin, Berlin, Germany
– name: 51 Department of Clinical Neuroscience, Karolinska Institutet, Stockholm, Sweden
– name: 33 Department of Neurology, University of California San Francisco, San Francisco, California, USA
– name: 50 Department of Neuroscience, Karolinska Institutet, Stockholm, Sweden
– name: 6 Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK
– name: 39 Department of Clinical Genetics, Aarhus University Hospital, Aarhus, Denmark
– name: 21 Institute of Human Genetics, Heidelberg University, Heidelberg, Germany
– name: 15 Ambulantes Gesundheitszentrum der Charité Campus Virchow (Humangenetik), Universitätsmedizin Berlin, Berlin, Germany
– name: 44 Neurogenetics Group, VIB Department of Molecular Genetics, University of Antwerp, Antwerp, Belgium
– name: 36 Department of Neurology, Adelaide & Meath Hospital, Dublin, Ireland
– name: 3 Department of Orthopaedics, Medical University Vienna, Vienna, Austria
– name: 28 Department of Clinical Biochemistry, University of Cambridge, Cambridge, UK
– name: 12 Neusentis Research Unit, Pfizer, Cambridge, UK
– name: 46 Department of Neurology, Antwerp University Hospital, Antwerp, Belgium
– name: 42 Center for Clinical Research, Freiburg University Medical Center, Freiburg, Germany
– name: 40 Center for Human Genetics, Bioscientia, Ingelheim, Germany
– name: 34 Department of Neuroscience, Bambino Gesù Children’s Hospital and Research Institute, Rome, Italy
– name: 18 Institut für Humangenetik, Universitätsklinikum Essen, Essen, Germany
– name: 1 Department of Medical Genetics, University of Cambridge, Cambridge, UK
– name: 32 Yorkshire Regional Genetics Service, Chapel Allerton Hospital, Leeds, UK
– name: 24 Departamento de Cirugía Plástica, Hospital Infantil Universitario de San José, Bogotá, Colombia
– name: 4 Department of Life Sciences, Graduate School of Arts and Sciences, University of Tokyo, Tokyo, Japan
– name: 41 Department of Medicine, Renal Division, Freiburg University Medical Center, Freiburg, Germany
– name: 5 Friedrich-Baur-Institute, Ludwig Maximilians University Munich, Munich, Germany
– name: 10 Department of Medical Genetics, University of Lausanne, Lausanne, Switzerland
– name: 25 Unidad de Genética, Universidad del Rosario, Bogotá, Colombia
– name: 7 Brain Function Research Group, School of Physiology, Faculty of Health Sciences, University of the Witwatersrand, Johannesburg, South Africa
– name: 30 CharitéCentrum für Zahn-, Mund- und Kieferheilkunde, Arbeitsbereich Kinderzahnmedizin, Universitätsmedizin Berlin, Berlin, Germany
– name: 31 GENDIA (GENetic DIAgnostic Network), Antwerp, Belgium
– name: 26 Institut für Neuropathologie, Uniklinik RWTH Aachen, Aachen, Germany
– name: 38 Clinical Medicine, Trinity College, Dublin, Ireland
– name: 48 Department of Human Genetics, Ruhr-University Bochum, Bochum, Germany
Author_xml – sequence: 1
  givenname: Ya-Chun
  surname: Chen
  fullname: Chen, Ya-Chun
  organization: Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, University of Cambridge
– sequence: 2
  givenname: Michaela
  surname: Auer-Grumbach
  fullname: Auer-Grumbach, Michaela
  organization: Department of Orthopaedics, Medical University Vienna
– sequence: 3
  givenname: Shinya
  surname: Matsukawa
  fullname: Matsukawa, Shinya
  organization: Department of Life Sciences, Graduate School of Arts and Sciences, University of Tokyo
– sequence: 4
  givenname: Manuela
  surname: Zitzelsberger
  fullname: Zitzelsberger, Manuela
  organization: Friedrich-Baur-Institute, Ludwig Maximilians University Munich
– sequence: 5
  givenname: Andreas C
  surname: Themistocleous
  fullname: Themistocleous, Andreas C
  organization: Nuffield Department of Clinical Neurosciences, University of Oxford, Brain Function Research Group, School of Physiology, Faculty of Health Sciences, University of the Witwatersrand
– sequence: 6
  givenname: Tim M
  surname: Strom
  fullname: Strom, Tim M
  organization: Institute of Human Genetics, Helmholtz Zentrum München, Institute of Human Genetics, Technische Universität München
– sequence: 7
  givenname: Chrysanthi
  surname: Samara
  fullname: Samara, Chrysanthi
  organization: Department of Medical Genetics, University of Lausanne
– sequence: 8
  givenname: Adrian W
  surname: Moore
  fullname: Moore, Adrian W
  organization: Disease Mechanism Research Core, RIKEN Brain Science Institute
– sequence: 9
  givenname: Lily Ting-Yin
  surname: Cho
  fullname: Cho, Lily Ting-Yin
  organization: Neusentis Research Unit
– sequence: 10
  givenname: Gareth T
  surname: Young
  fullname: Young, Gareth T
  organization: Neusentis Research Unit
– sequence: 11
  givenname: Caecilia
  surname: Weiss
  fullname: Weiss, Caecilia
  organization: Friedrich-Baur-Institute, Ludwig Maximilians University Munich
– sequence: 12
  givenname: Maria
  surname: Schabhüttl
  fullname: Schabhüttl, Maria
  organization: Department of Orthopaedics, Medical University Vienna
– sequence: 13
  givenname: Rolf
  surname: Stucka
  fullname: Stucka, Rolf
  organization: Friedrich-Baur-Institute, Ludwig Maximilians University Munich
– sequence: 14
  givenname: Annina B
  surname: Schmid
  fullname: Schmid, Annina B
  organization: Nuffield Department of Clinical Neurosciences, University of Oxford, School of Health and Rehabilitation Sciences, The University of Queensland
– sequence: 15
  givenname: Yesim
  surname: Parman
  fullname: Parman, Yesim
  organization: Department of Neurology, Istanbul University
– sequence: 16
  givenname: Luitgard
  surname: Graul-Neumann
  fullname: Graul-Neumann, Luitgard
  organization: Ambulantes Gesundheitszentrum der Charité Campus Virchow (Humangenetik), Universitätsmedizin Berlin
– sequence: 17
  givenname: Wolfram
  surname: Heinritz
  fullname: Heinritz, Wolfram
  organization: Praxis für Humangenetik Cottbus, Institut für Humangenetik, Universitätsklinikum Leipzig
– sequence: 18
  givenname: Eberhard
  surname: Passarge
  fullname: Passarge, Eberhard
  organization: Institut für Humangenetik, Universitätsklinikum Leipzig, Institut für Humangenetik, Universitätsklinikum Essen
– sequence: 19
  givenname: Rosemarie M
  surname: Watson
  fullname: Watson, Rosemarie M
  organization: Department of Dermatology, Our Lady's Children's Hospital
– sequence: 20
  givenname: Jens Michael
  surname: Hertz
  fullname: Hertz, Jens Michael
  organization: Department of Clinical Genetics, Odense University Hospital
– sequence: 21
  givenname: Ute
  surname: Moog
  fullname: Moog, Ute
  organization: Institute of Human Genetics, Heidelberg University
– sequence: 22
  givenname: Manuela
  surname: Baumgartner
  fullname: Baumgartner, Manuela
  organization: Neuropädiatrische Ambulanz, Krankenhaus der Barmherzigen Schwestern Linz
– sequence: 23
  givenname: Enza Maria
  surname: Valente
  fullname: Valente, Enza Maria
  organization: Neurogenetics Unit, Casa Sollievo della Sofferenza
– sequence: 24
  givenname: Diego
  surname: Pereira
  fullname: Pereira, Diego
  organization: Departamento de Cirugía Plástica, Hospital Infantil Universitario de San José
– sequence: 25
  givenname: Carlos M
  surname: Restrepo
  fullname: Restrepo, Carlos M
  organization: Unidad de Genética, Universidad del Rosario
– sequence: 26
  givenname: Istvan
  surname: Katona
  fullname: Katona, Istvan
  organization: Institut für Neuropathologie, Uniklinik RWTH Aachen
– sequence: 27
  givenname: Marina
  surname: Dusl
  fullname: Dusl, Marina
  organization: Friedrich-Baur-Institute, Ludwig Maximilians University Munich
– sequence: 28
  givenname: Claudia
  surname: Stendel
  fullname: Stendel, Claudia
  organization: Friedrich-Baur-Institute, Ludwig Maximilians University Munich, German Center for Neurodegenerative Diseases (DZNE)
– sequence: 29
  givenname: Thomas
  surname: Wieland
  fullname: Wieland, Thomas
  organization: Institute of Human Genetics, Helmholtz Zentrum München
– sequence: 30
  givenname: Fay
  surname: Stafford
  fullname: Stafford, Fay
  organization: Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, University of Cambridge
– sequence: 31
  givenname: Frank
  surname: Reimann
  fullname: Reimann, Frank
  organization: Department of Clinical Biochemistry, University of Cambridge
– sequence: 32
  givenname: Katja
  surname: von Au
  fullname: von Au, Katja
  organization: SPZ Neuropädiatrie Charité, Universitätsmedizin Berlin
– sequence: 33
  givenname: Christian
  surname: Finke
  fullname: Finke, Christian
  organization: CharitéCentrum für Zahn-, Mund- und Kieferheilkunde, Arbeitsbereich Kinderzahnmedizin, Universitätsmedizin Berlin
– sequence: 34
  givenname: Patrick J
  surname: Willems
  fullname: Willems, Patrick J
  organization: GENDIA (GENetic DIAgnostic Network)
– sequence: 35
  givenname: Michael S
  surname: Nahorski
  fullname: Nahorski, Michael S
  organization: Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, University of Cambridge
– sequence: 36
  givenname: Samiha S
  surname: Shaikh
  fullname: Shaikh, Samiha S
  organization: Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, University of Cambridge
– sequence: 37
  givenname: Ofélia P
  orcidid: 0000-0002-7450-9980
  surname: Carvalho
  fullname: Carvalho, Ofélia P
  organization: Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, University of Cambridge
– sequence: 38
  givenname: Adeline K
  surname: Nicholas
  fullname: Nicholas, Adeline K
  organization: Cambridge Institute for Medical Research, University of Cambridge
– sequence: 39
  givenname: Gulshan
  surname: Karbani
  fullname: Karbani, Gulshan
  organization: Yorkshire Regional Genetics Service, Chapel Allerton Hospital
– sequence: 40
  givenname: Maeve A
  surname: McAleer
  fullname: McAleer, Maeve A
  organization: Department of Dermatology, Our Lady's Children's Hospital
– sequence: 41
  givenname: Maria Roberta
  surname: Cilio
  fullname: Cilio, Maria Roberta
  organization: Department of Neurology, University of California San Francisco, Department of Neuroscience, Bambino Gesù Children's Hospital and Research Institute
– sequence: 42
  givenname: John C
  surname: McHugh
  fullname: McHugh, John C
  organization: Department of Neurology and Neurophysiology, Our Lady's Children's Hospital
– sequence: 43
  givenname: Sinead M
  surname: Murphy
  fullname: Murphy, Sinead M
  organization: Department of Neurology, Adelaide & Meath Hospital, Academic Unit of Neurology, Trinity College
– sequence: 44
  givenname: Alan D
  surname: Irvine
  fullname: Irvine, Alan D
  organization: Department of Dermatology, Our Lady's Children's Hospital, Clinical Medicine, Trinity College
– sequence: 45
  givenname: Uffe Birk
  surname: Jensen
  fullname: Jensen, Uffe Birk
  organization: Department of Clinical Genetics, Aarhus University Hospital
– sequence: 46
  givenname: Reinhard
  surname: Windhager
  fullname: Windhager, Reinhard
  organization: Department of Orthopaedics, Medical University Vienna
– sequence: 47
  givenname: Joachim
  surname: Weis
  fullname: Weis, Joachim
  organization: Institut für Neuropathologie, Uniklinik RWTH Aachen
– sequence: 48
  givenname: Carsten
  surname: Bergmann
  fullname: Bergmann, Carsten
  organization: Center for Human Genetics, Bioscientia, Department of Medicine, Renal Division, Freiburg University Medical Center, Center for Clinical Research, Freiburg University Medical Center
– sequence: 49
  givenname: Bernd
  surname: Rautenstrauss
  fullname: Rautenstrauss, Bernd
  organization: Friedrich-Baur-Institute, Ludwig Maximilians University Munich, Medizinisch Genetisches Zentrum
– sequence: 50
  givenname: Jonathan
  surname: Baets
  fullname: Baets, Jonathan
  organization: VIB Department of Molecular Genetics, Neurogenetics Group, University of Antwerp, Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Department of Neurology, Antwerp University Hospital
– sequence: 51
  givenname: Peter
  surname: De Jonghe
  fullname: De Jonghe, Peter
  organization: VIB Department of Molecular Genetics, Neurogenetics Group, University of Antwerp, Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Department of Neurology, Antwerp University Hospital
– sequence: 52
  givenname: Mary M
  surname: Reilly
  fullname: Reilly, Mary M
  organization: MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, National Hospital for Neurology
– sequence: 53
  givenname: Regina
  surname: Kropatsch
  fullname: Kropatsch, Regina
  organization: Department of Human Genetics, Ruhr-University Bochum
– sequence: 54
  givenname: Ingo
  orcidid: 0000-0002-5642-8378
  surname: Kurth
  fullname: Kurth, Ingo
  organization: Institute of Human Genetics, Jena University Hospital
– sequence: 55
  givenname: Roman
  surname: Chrast
  fullname: Chrast, Roman
  organization: Department of Medical Genetics, University of Lausanne, Department of Neuroscience, Karolinska Institutet, Department of Clinical Neuroscience, Karolinska Institutet
– sequence: 56
  givenname: Tatsuo
  surname: Michiue
  fullname: Michiue, Tatsuo
  organization: Department of Life Sciences, Graduate School of Arts and Sciences, University of Tokyo
– sequence: 57
  givenname: David L H
  surname: Bennett
  fullname: Bennett, David L H
  organization: Nuffield Department of Clinical Neurosciences, University of Oxford
– sequence: 58
  givenname: C Geoffrey
  surname: Woods
  fullname: Woods, C Geoffrey
  email: cw347@cam.ac.uk
  organization: Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, University of Cambridge
– sequence: 59
  givenname: Jan
  surname: Senderek
  fullname: Senderek, Jan
  email: jan.senderek@med.uni-muenchen.de
  organization: Friedrich-Baur-Institute, Ludwig Maximilians University Munich
BackLink https://www.ncbi.nlm.nih.gov/pubmed/26005867$$D View this record in MEDLINE/PubMed
http://kipublications.ki.se/Default.aspx?queryparsed=id:131562917$$DView record from Swedish Publication Index
BookMark eNqNkstu1TAQhi1URC8g3gBFYgEscvAtt02lqkCpVFRUClvLcSapS2If7KSFt2dOe0qbAwsUybFmvvk9_j27ZMt5B4Q8Z3TBqCjfum4hBC0fkR2WyTxlBSu3cE9zlkoq8m2yG-MlpUxKWj4h2zynNCvzYoccnQftogl2OVrvdJ8E6KZejz4kn8_efWI8sTGBGMGNFrMtxi-mQbtkqS0uEAzcVD4lj1vdR3i2_u-Rrx_enx9-TE9Oj44PD05SU4hqTAuTQcZBGNpUmaRVw9tWME6bumFMiEqyQja8qGUDbW04QJsBgwpkW0tjBBN7JL3VjdewnGq1DHbQ4Zfy2qp16DvuQGVM8Ewiv3_LY2aAxuA9gu5nZfOMsxeq81eq4NiWLFDg9Vog-B8TxFENNhroe-3AT1GxvGI5ZSIXiL7cQC_9FNDUG0rmFS15eU91ugdlXevxXLMSVQeSY9dCUorU4h8Ufg0M1uDjtxbjs4I3swJkRvg5dnqKUR1_Oft_9vTbnH3x0MA_zt2N0P2LmOBjDNAqY0e9mgns2PaKUbUaUeU6tRpR5F9t8HeSf5Nr6yMSroPwwM8N9DcEsPAZ
CitedBy_id crossref_primary_10_3389_fgene_2023_1139161
crossref_primary_10_1186_s40478_021_01201_x
crossref_primary_10_1186_s13256_017_1387_z
crossref_primary_10_14412_2074_2711_2020_1_27_32
crossref_primary_10_1016_j_neuropharm_2015_12_011
crossref_primary_10_3390_pathophysiology29030035
crossref_primary_10_4103_JISPPD_JISPPD_310_19
crossref_primary_10_1002_mgg3_1839
crossref_primary_10_1007_s10616_022_00519_1
crossref_primary_10_1093_bjd_ljae198
crossref_primary_10_1111_pde_15917
crossref_primary_10_1016_j_euroneuro_2019_09_778
crossref_primary_10_1016_j_neulet_2020_135505
crossref_primary_10_1016_j_ajhg_2016_07_008
crossref_primary_10_1111_febs_15844
crossref_primary_10_1136_bcr_2018_226873
crossref_primary_10_3724_SP_J_1042_2020_01723
crossref_primary_10_1007_s12098_016_2284_y
crossref_primary_10_1007_s00359_020_01414_w
crossref_primary_10_1111_bjd_17119
crossref_primary_10_1111_ced_12997
crossref_primary_10_1111_ijd_17617
crossref_primary_10_1016_j_jpain_2016_03_001
crossref_primary_10_1016_j_tem_2015_11_005
crossref_primary_10_1016_j_xinn_2022_100295
crossref_primary_10_1038_s41572_022_00365_7
crossref_primary_10_1523_JNEUROSCI_0688_19_2019
crossref_primary_10_1371_journal_pgen_1006461
crossref_primary_10_1016_j_arr_2024_102249
crossref_primary_10_1038_s41467_020_16210_y
crossref_primary_10_4055_jkoa_2019_54_5_463
crossref_primary_10_1186_s13041_020_00623_3
crossref_primary_10_1186_s13064_023_00179_7
crossref_primary_10_1002_ajmg_a_62968
crossref_primary_10_1186_s13064_015_0052_8
crossref_primary_10_1016_j_cca_2017_02_007
crossref_primary_10_1136_jmedgenet_2015_103646
crossref_primary_10_1212_NXG_0000000000000568
crossref_primary_10_1007_s00415_019_09239_7
crossref_primary_10_1126_scitranslmed_abj8186
crossref_primary_10_1097_j_pain_0000000000001099
crossref_primary_10_3390_genes14030733
crossref_primary_10_1038_s41593_024_01794_1
crossref_primary_10_1111_jns_12309
crossref_primary_10_1002_ueg2_12696
crossref_primary_10_1016_j_neubiorev_2018_01_013
crossref_primary_10_1097_j_pain_0000000000001889
crossref_primary_10_3389_fnmol_2021_720973
crossref_primary_10_1016_j_pharmthera_2016_11_015
crossref_primary_10_1097_j_pain_0000000000001807
crossref_primary_10_3389_fphar_2022_818952
crossref_primary_10_3390_ijms222112030
crossref_primary_10_4103_0028_3886_338691
crossref_primary_10_1007_s00401_016_1645_y
crossref_primary_10_1007_s00482_015_0024_2
crossref_primary_10_1097_j_pain_0000000000001485
crossref_primary_10_1111_bjd_16893
crossref_primary_10_7554_eLife_71752
crossref_primary_10_1016_j_neubiorev_2021_01_011
crossref_primary_10_3389_fgene_2021_763467
crossref_primary_10_3390_jpm14060570
crossref_primary_10_1186_s13064_016_0057_y
crossref_primary_10_1371_journal_pone_0185985
crossref_primary_10_1042_BST20200143
crossref_primary_10_3390_ijms21072648
crossref_primary_10_1136_bjophthalmol_2020_317464
crossref_primary_10_1038_s41559_023_02170_1
crossref_primary_10_3390_biology12081059
crossref_primary_10_1016_j_tips_2021_08_002
crossref_primary_10_1016_j_neulet_2018_11_045
crossref_primary_10_1093_bjd_ljae151
crossref_primary_10_1007_s11910_019_0974_3
crossref_primary_10_1111_ipd_13188
crossref_primary_10_4103_injms_injms_140_23
crossref_primary_10_4103_JISPPD_JISPPD_340_18
crossref_primary_10_1080_23808993_2017_1322897
crossref_primary_10_1097_j_pain_0000000000000858
crossref_primary_10_1126_sciadv_aaz5858
crossref_primary_10_1007_s00337_022_00888_w
crossref_primary_10_1074_jbc_REV119_007678
crossref_primary_10_1016_j_tins_2015_08_010
crossref_primary_10_4103_idoj_idoj_427_21
crossref_primary_10_1002_ajmg_b_32458
crossref_primary_10_1016_j_compbiolchem_2020_107382
crossref_primary_10_1146_annurev_pharmtox_010617_052554
crossref_primary_10_1111_ahg_12501
crossref_primary_10_3390_cells9122603
crossref_primary_10_1016_j_celrep_2021_108913
crossref_primary_10_1242_bio_058896
crossref_primary_10_1007_s00439_019_02003_x
crossref_primary_10_1038_s41598_024_78407_1
crossref_primary_10_1152_physrev_00052_2017
crossref_primary_10_3389_fnmol_2017_00252
crossref_primary_10_1093_bmb_ldaa003
crossref_primary_10_3390_brainsci10060344
crossref_primary_10_1042_ETLS20230074
crossref_primary_10_1002_wsbm_1570
crossref_primary_10_1097_j_pain_0000000000001217
crossref_primary_10_1038_s41392_024_01845_w
crossref_primary_10_1093_brain_awab048
crossref_primary_10_1016_j_pediatrneurol_2020_03_007
crossref_primary_10_1038_nrn3986
crossref_primary_10_1111_pde_14081
crossref_primary_10_1038_ng0815_962b
crossref_primary_10_1007_s00439_018_1952_6
crossref_primary_10_1016_j_isci_2023_108364
crossref_primary_10_1038_s41467_021_21725_z
crossref_primary_10_1016_j_celrep_2019_04_096
crossref_primary_10_3390_genes9080391
crossref_primary_10_1016_j_jaad_2019_05_036
crossref_primary_10_1093_ageing_afae107
crossref_primary_10_1242_bio_059574
crossref_primary_10_3389_fcell_2020_587699
crossref_primary_10_1016_j_molmet_2020_01_007
crossref_primary_10_1016_j_expneurol_2016_06_023
crossref_primary_10_1016_j_celrep_2019_02_097
crossref_primary_10_1016_j_molmed_2020_07_007
crossref_primary_10_1097_j_pain_0000000000002536
crossref_primary_10_1016_j_celrep_2019_02_098
crossref_primary_10_1242_dev_121871
crossref_primary_10_1093_brain_awx326
Cites_doi 10.1016/j.ydbio.2006.03.009
10.1242/dev.082198
10.1016/S1474-4422(14)70024-9
10.1038/ng.830
10.1111/jns5.12023
10.1093/hmg/ddh096
10.1002/dvdy.21915
10.3389/fnins.2012.00059
10.1371/journal.pone.0003859
10.1016/j.neuron.2012.01.012
10.1073/pnas.0905523106
10.1016/j.ejpain.2005.06.009
10.1242/dev.070110
10.1111/j.1399-0004.2012.01942.x
10.4161/epi.6.10.17592
10.1038/nbt.2249
10.1007/s13238-012-2916-6
10.1136/jmg.2008.062380
10.1001/jama.290.18.2443
10.1136/jmg.2010.081455
10.1186/gm416
10.1038/nn.2998
10.1074/jbc.273.26.15933
10.1101/gr.212802
10.1038/nm.2828
10.1371/journal.pgen.1003290
10.1038/mt.2014.86
10.1093/bioinformatics/btt769
10.1074/jbc.M112.392746
10.1038/ng0896-485
10.1038/nature05413
10.1093/hmg/7.4.679
10.1007/s12038-008-0098-4
10.1126/science.1072387
10.1093/brain/awq168
10.1086/505693
10.1038/nmeth.2890
10.1016/j.gde.2005.04.003
10.1007/BF00690642
10.1038/nrd3732
10.1038/ng0498-331
10.1016/S0091-679X(08)60307-6
10.1073/pnas.95.8.4152
10.1016/0304-3959(79)90084-8
10.1016/j.ydbio.2014.02.025
10.1093/nar/16.15.7351
10.1172/JCI42843
10.1247/csf.13010
10.1371/journal.pone.0046688
10.1038/13810
10.1038/ng.2767
10.1242/dev.01823
10.1242/dev.125.12.2315
10.1101/gad.13.13.1717
10.1038/nmeth0410-248
ContentType Journal Article
Copyright Springer Nature America, Inc. 2015
COPYRIGHT 2015 Nature Publishing Group
Copyright Nature Publishing Group Jul 2015
Copyright_xml – notice: Springer Nature America, Inc. 2015
– notice: COPYRIGHT 2015 Nature Publishing Group
– notice: Copyright Nature Publishing Group Jul 2015
DBID AAYXX
CITATION
CGR
CUY
CVF
ECM
EIF
NPM
IOV
ISR
3V.
7QL
7QP
7QR
7SS
7T7
7TK
7TM
7U9
7X7
7XB
88A
88E
8AO
8C1
8FD
8FE
8FH
8FI
8FJ
8FK
8G5
ABUWG
AEUYN
AFKRA
AZQEC
BBNVY
BENPR
BHPHI
C1K
CCPQU
DWQXO
FR3
FYUFA
GHDGH
GNUQQ
GUQSH
H94
HCIFZ
K9.
LK8
M0S
M1P
M2O
M7N
M7P
MBDVC
P64
PHGZM
PHGZT
PJZUB
PKEHL
PPXIY
PQEST
PQGLB
PQQKQ
PQUKI
PRINS
Q9U
RC3
7X8
5PM
ADTPV
AOWAS
D8T
ZZAVC
DOI 10.1038/ng.3308
DatabaseName CrossRef
Medline
MEDLINE
MEDLINE (Ovid)
MEDLINE
MEDLINE
PubMed
Gale In Context: Opposing Viewpoints
Gale In Context: Science
ProQuest Central (Corporate)
Bacteriology Abstracts (Microbiology B)
Calcium & Calcified Tissue Abstracts
Chemoreception Abstracts
Entomology Abstracts (Full archive)
Industrial and Applied Microbiology Abstracts (Microbiology A)
Neurosciences Abstracts
Nucleic Acids Abstracts
Virology and AIDS Abstracts
Health & Medical Collection
ProQuest Central (purchase pre-March 2016)
Biology Database (Alumni Edition)
Medical Database (Alumni Edition)
ProQuest Pharma Collection
Public Health Database
Technology Research Database
ProQuest SciTech Collection
ProQuest Natural Science Collection
Hospital Premium Collection
Hospital Premium Collection (Alumni Edition)
ProQuest Central (Alumni) (purchase pre-March 2016)
ProQuest Research Library
ProQuest Central (Alumni)
ProQuest One Sustainability
ProQuest Central UK/Ireland
ProQuest Central Essentials
Biological Science Collection
ProQuest Central
Natural Science Collection
Environmental Sciences and Pollution Management
ProQuest One
ProQuest Central Korea
Engineering Research Database
Health Research Premium Collection
Health Research Premium Collection (Alumni)
ProQuest Central Student
ProQuest Research Library
AIDS and Cancer Research Abstracts
SciTech Premium Collection
ProQuest Health & Medical Complete (Alumni)
ProQuest Biological Science Collection
ProQuest Health & Medical Collection
Medical Database
Research Library
Algology Mycology and Protozoology Abstracts (Microbiology C)
Biological Science Database
Research Library (Corporate)
Biotechnology and BioEngineering Abstracts
ProQuest Central Premium
ProQuest One Academic (New)
ProQuest Health & Medical Research Collection
ProQuest One Academic Middle East (New)
ProQuest One Health & Nursing
ProQuest One Academic Eastern Edition (DO NOT USE)
ProQuest One Applied & Life Sciences
ProQuest One Academic
ProQuest One Academic UKI Edition
ProQuest Central China
ProQuest Central Basic
Genetics Abstracts
MEDLINE - Academic
PubMed Central (Full Participant titles)
SwePub
SwePub Articles
SWEPUB Freely available online
SwePub Articles full text
DatabaseTitle CrossRef
MEDLINE
Medline Complete
MEDLINE with Full Text
PubMed
MEDLINE (Ovid)
Research Library Prep
ProQuest Central Student
ProQuest Central Essentials
Nucleic Acids Abstracts
SciTech Premium Collection
ProQuest Central China
Environmental Sciences and Pollution Management
ProQuest One Applied & Life Sciences
ProQuest One Sustainability
Health Research Premium Collection
Natural Science Collection
Health & Medical Research Collection
Biological Science Collection
Chemoreception Abstracts
Industrial and Applied Microbiology Abstracts (Microbiology A)
ProQuest Central (New)
ProQuest Medical Library (Alumni)
Virology and AIDS Abstracts
ProQuest Biological Science Collection
ProQuest One Academic Eastern Edition
ProQuest Hospital Collection
Health Research Premium Collection (Alumni)
Biological Science Database
Neurosciences Abstracts
ProQuest Hospital Collection (Alumni)
Biotechnology and BioEngineering Abstracts
Entomology Abstracts
ProQuest Health & Medical Complete
ProQuest One Academic UKI Edition
Engineering Research Database
ProQuest One Academic
Calcium & Calcified Tissue Abstracts
ProQuest One Academic (New)
Technology Research Database
ProQuest One Academic Middle East (New)
ProQuest Health & Medical Complete (Alumni)
ProQuest Central (Alumni Edition)
ProQuest One Community College
ProQuest One Health & Nursing
Research Library (Alumni Edition)
ProQuest Natural Science Collection
ProQuest Pharma Collection
ProQuest Biology Journals (Alumni Edition)
ProQuest Central
ProQuest Health & Medical Research Collection
Genetics Abstracts
Health and Medicine Complete (Alumni Edition)
ProQuest Central Korea
Bacteriology Abstracts (Microbiology B)
Algology Mycology and Protozoology Abstracts (Microbiology C)
AIDS and Cancer Research Abstracts
ProQuest Research Library
ProQuest Public Health
ProQuest Central Basic
ProQuest SciTech Collection
ProQuest Medical Library
ProQuest Central (Alumni)
MEDLINE - Academic
DatabaseTitleList Research Library Prep



MEDLINE - Academic
MEDLINE
Database_xml – sequence: 1
  dbid: NPM
  name: PubMed
  url: https://proxy.k.utb.cz/login?url=http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=PubMed
  sourceTypes: Index Database
– sequence: 2
  dbid: EIF
  name: MEDLINE
  url: https://proxy.k.utb.cz/login?url=https://www.webofscience.com/wos/medline/basic-search
  sourceTypes: Index Database
– sequence: 3
  dbid: BENPR
  name: ProQuest Central
  url: https://www.proquest.com/central
  sourceTypes: Aggregation Database
DeliveryMethod fulltext_linktorsrc
Discipline Agriculture
Biology
EISSN 1546-1718
EndPage 808
ExternalDocumentID oai_swepub_ki_se_513254
PMC7212047
3736877661
A421323400
26005867
10_1038_ng_3308
Genre Research Support, Non-U.S. Gov't
Journal Article
Feature
GrantInformation_xml – fundername: Wellcome Trust
  grantid: 102645
– fundername: Wellcome Trust
  grantid: 095698z/11/z
– fundername: Medical Research Council
  grantid: MR/J012742/1
– fundername: Austrian Science Fund FWF
  grantid: P 23223
– fundername: Medical Research Council
  grantid: MR/K000608/1
– fundername: Medical Research Council
  grantid: MC_UU_12012/3
GroupedDBID ---
-DZ
-~X
.55
.GJ
0R~
123
29M
2FS
36B
39C
3O-
3V.
4.4
53G
5BI
5M7
5RE
5S5
70F
7X7
85S
88A
88E
8AO
8C1
8FE
8FH
8FI
8FJ
8G5
8R4
8R5
AAEEF
AAHBH
AARCD
AAYOK
AAYZH
AAZLF
ABAWZ
ABCQX
ABDBF
ABDPE
ABEFU
ABJNI
ABLJU
ABOCM
ABTAH
ABUWG
ACBWK
ACGFO
ACGFS
ACIWK
ACMJI
ACNCT
ACPRK
ACUHS
ADBBV
ADFRT
AENEX
AEUYN
AFBBN
AFFNX
AFKRA
AFRAH
AFSHS
AGAYW
AGCDD
AGHTU
AHBCP
AHMBA
AHOSX
AHSBF
AIBTJ
ALFFA
ALIPV
ALMA_UNASSIGNED_HOLDINGS
AMTXH
ARMCB
ASPBG
AVWKF
AXYYD
AZFZN
AZQEC
B0M
BBNVY
BENPR
BHPHI
BKKNO
BPHCQ
BVXVI
CCPQU
CS3
DB5
DU5
DWQXO
EAD
EAP
EBC
EBD
EBS
EE.
EJD
EMB
EMK
EMOBN
EPL
ESX
EXGXG
F5P
FEDTE
FQGFK
FSGXE
FYUFA
GNUQQ
GUQSH
GX1
HCIFZ
HMCUK
HVGLF
HZ~
IAO
IH2
IHR
INH
INR
IOV
ISR
ITC
L7B
LGEZI
LK8
LOTEE
M0L
M1P
M2O
M7P
MVM
N9A
NADUK
NNMJJ
NXXTH
ODYON
P2P
PKN
PQQKQ
PROAC
PSQYO
Q2X
RIG
RNS
RNT
RNTTT
RVV
SHXYY
SIXXV
SJN
SNYQT
SOJ
SV3
TAOOD
TBHMF
TDRGL
TN5
TSG
TUS
UKHRP
VQA
X7M
XJT
XOL
Y6R
YHZ
ZGI
ZXP
ZY4
~8M
~KM
AAYXX
ABFSG
ACMFV
ACSTC
AETEA
AFANA
ALPWD
ATHPR
CITATION
PHGZM
PHGZT
AEZWR
AFHIU
AHWEU
AIXLP
CGR
CUY
CVF
ECM
EIF
NFIDA
NPM
PJZUB
PPXIY
PQGLB
AEIIB
PMFND
7QL
7QP
7QR
7SS
7T7
7TK
7TM
7U9
7XB
8FD
8FK
C1K
FR3
H94
K9.
M7N
MBDVC
P64
PKEHL
PQEST
PQUKI
PRINS
Q9U
RC3
7X8
5PM
ADTPV
AOWAS
D8T
PUEGO
ZZAVC
ID FETCH-LOGICAL-c739t-7c5e52e3c0d95409d2ff3120dbd113394174d27b4defbc2eef5e1e9e4fb4cc313
IEDL.DBID 7X7
ISSN 1061-4036
1546-1718
IngestDate Mon Sep 01 03:35:16 EDT 2025
Thu Aug 21 14:30:16 EDT 2025
Fri Jul 11 14:17:10 EDT 2025
Fri Jul 25 08:58:53 EDT 2025
Tue Jun 17 21:40:42 EDT 2025
Tue Jun 10 20:48:18 EDT 2025
Fri Jun 27 04:47:26 EDT 2025
Fri Jun 27 04:41:35 EDT 2025
Mon Jul 21 05:57:32 EDT 2025
Tue Jul 01 01:50:12 EDT 2025
Thu Apr 24 23:13:00 EDT 2025
Fri Feb 21 02:39:04 EST 2025
IsDoiOpenAccess true
IsOpenAccess true
IsPeerReviewed true
IsScholarly true
Issue 7
Language English
LinkModel DirectLink
MergedId FETCHMERGED-LOGICAL-c739t-7c5e52e3c0d95409d2ff3120dbd113394174d27b4defbc2eef5e1e9e4fb4cc313
Notes SourceType-Scholarly Journals-1
ObjectType-Feature-1
content type line 14
ObjectType-Article-1
ObjectType-Feature-2
content type line 23
ORCID 0000-0002-5642-8378
0000-0002-7450-9980
0000000274509980
0000000256428378
OpenAccessLink http://kipublications.ki.se/Default.aspx?queryparsed=id:131562917
PMID 26005867
PQID 1694690828
PQPubID 33429
PageCount 6
ParticipantIDs swepub_primary_oai_swepub_ki_se_513254
pubmedcentral_primary_oai_pubmedcentral_nih_gov_7212047
proquest_miscellaneous_1691601363
proquest_journals_1694690828
gale_infotracmisc_A421323400
gale_infotracacademiconefile_A421323400
gale_incontextgauss_ISR_A421323400
gale_incontextgauss_IOV_A421323400
pubmed_primary_26005867
crossref_citationtrail_10_1038_ng_3308
crossref_primary_10_1038_ng_3308
springer_journals_10_1038_ng_3308
ProviderPackageCode CITATION
AAYXX
PublicationCentury 2000
PublicationDate 2015-07-01
PublicationDateYYYYMMDD 2015-07-01
PublicationDate_xml – month: 07
  year: 2015
  text: 2015-07-01
  day: 01
PublicationDecade 2010
PublicationPlace New York
PublicationPlace_xml – name: New York
– name: United States
PublicationTitle Nature genetics
PublicationTitleAbbrev Nat Genet
PublicationTitleAlternate Nat Genet
PublicationYear 2015
Publisher Nature Publishing Group US
Nature Publishing Group
Publisher_xml – name: Nature Publishing Group US
– name: Nature Publishing Group
References Cardoso (CR42) 1998; 7
Zannino, Downes, Sagerström (CR24) 2014; 390
Leipold (CR12) 2013; 45
Cox (CR11) 2006; 444
Wong, Zhang (CR49) 2014; 30
Holmes (CR6) 2012; 11
Schlosser (CR25) 2006; 294
Chittka, Nitarska, Grazini, Richardson (CR29) 2012; 287
Jakovcevski, Akbarian (CR38) 2012; 18
Stendel (CR52) 2010; 133
Grove, Tole, Limon, Yip, Ragsdale (CR51) 1998; 125
Sato, Sasai, Sasai (CR56) 2005; 132
Yang, Shinkai (CR30) 2013; 38
Boshnjaku (CR34) 2011; 6
Merskey, Watson (CR1) 1979; 7
Ochoa, Mair (CR19) 1969; 13
Einarsdottir (CR14) 2004; 13
Cui (CR41) 1998; 18
Hall (CR20) 2008; 33
Jobe, McQuate, Zhao (CR33) 2012; 6
Stewart, Ricci, Chee, Morganstein, Lipton (CR3) 2003; 290
Rozenblatt-Rosen (CR40) 1998; 95
Schwarz, Cooper, Schuelke, Seelow (CR47) 2014; 11
Crow, Denk, McMahon (CR9) 2013; 5
Indo (CR13) 1996; 13
Breivik, Collett, Ventafridda, Cohen, Gallacher (CR4) 2006; 10
Dubin, Patapoutian (CR18) 2010; 120
Young (CR23) 2014; 22
Harland (CR55) 1991; 36
Higuchi, Krummel, Saiki (CR50) 1988; 16
Kleefstra (CR36) 2006; 79
Arnaud (CR53) 2009; 106
Tan (CR32) 2012; 139
Doppler, Werner, Sommer (CR43) 2013; 18
Kinameri (CR8) 2008; 3
Hu, Wang, Shen (CR31) 2012; 3
CR54
Nicholas (CR44) 2009; 46
Bennett, Woods (CR2) 2014; 13
Choi, Sims, Murphy, Miller, Chan (CR45) 2012; 7
Denk, McMahon (CR10) 2012; 73
Endo (CR28) 2012; 15
Amir (CR35) 1999; 23
Hohenauer, Moore (CR7) 2012; 139
Albrecht, Mundlos (CR16) 2005; 15
Chambers (CR22) 2012; 30
Huang, Shao, Liu (CR39) 1998; 273
Carvalho (CR15) 2011; 48
Moore, Jan, Jan (CR26) 2002; 297
Klein (CR37) 2011; 43
Ng, Henikoff (CR46) 2002; 12
Goldberg (CR5) 2012; 82
Hughes (CR17) 2013; 9
Adzhubei (CR48) 2010; 7
Ma, Fode, Guillemot, Anderson (CR21) 1999; 13
Rossi, Kaji, Artinger (CR27) 2009; 238
DL Bennett (BFng3308_CR2) 2014; 13
O Rozenblatt-Rosen (BFng3308_CR40) 1998; 95
SM Chambers (BFng3308_CR22) 2012; 30
RM Harland (BFng3308_CR55) 1991; 36
A Chittka (BFng3308_CR29) 2012; 287
AE Dubin (BFng3308_CR18) 2010; 120
T Hohenauer (BFng3308_CR7) 2012; 139
E Leipold (BFng3308_CR12) 2013; 45
XL Hu (BFng3308_CR31) 2012; 3
D Holmes (BFng3308_CR6) 2012; 11
SL Tan (BFng3308_CR32) 2012; 139
JM Schwarz (BFng3308_CR47) 2014; 11
BK Hall (BFng3308_CR20) 2008; 33
R Higuchi (BFng3308_CR50) 1988; 16
KC Wong (BFng3308_CR49) 2014; 30
H Merskey (BFng3308_CR1) 1979; 7
J Ochoa (BFng3308_CR19) 1969; 13
JJ Cox (BFng3308_CR11) 2006; 444
H Breivik (BFng3308_CR4) 2006; 10
EM Jobe (BFng3308_CR33) 2012; 6
E Kinameri (BFng3308_CR8) 2008; 3
RE Amir (BFng3308_CR35) 1999; 23
AK Nicholas (BFng3308_CR44) 2009; 46
C Stendel (BFng3308_CR52) 2010; 133
CC Rossi (BFng3308_CR27) 2009; 238
X Cui (BFng3308_CR41) 1998; 18
V Boshnjaku (BFng3308_CR34) 2011; 6
PC Ng (BFng3308_CR46) 2002; 12
C Cardoso (BFng3308_CR42) 1998; 7
G Schlosser (BFng3308_CR25) 2006; 294
Y Indo (BFng3308_CR13) 1996; 13
J Hughes (BFng3308_CR17) 2013; 9
T Sato (BFng3308_CR56) 2005; 132
OP Carvalho (BFng3308_CR15) 2011; 48
K Doppler (BFng3308_CR43) 2013; 18
CJ Klein (BFng3308_CR37) 2011; 43
M Jakovcevski (BFng3308_CR38) 2012; 18
Y Choi (BFng3308_CR45) 2012; 7
BFng3308_CR54
YP Goldberg (BFng3308_CR5) 2012; 82
S Huang (BFng3308_CR39) 1998; 273
A Albrecht (BFng3308_CR16) 2005; 15
IA Adzhubei (BFng3308_CR48) 2010; 7
GT Young (BFng3308_CR23) 2014; 22
K Endo (BFng3308_CR28) 2012; 15
CM Yang (BFng3308_CR30) 2013; 38
F Denk (BFng3308_CR10) 2012; 73
WF Stewart (BFng3308_CR3) 2003; 290
DA Zannino (BFng3308_CR24) 2014; 390
EA Grove (BFng3308_CR51) 1998; 125
M Crow (BFng3308_CR9) 2013; 5
E Arnaud (BFng3308_CR53) 2009; 106
T Kleefstra (BFng3308_CR36) 2006; 79
Q Ma (BFng3308_CR21) 1999; 13
AW Moore (BFng3308_CR26) 2002; 297
E Einarsdottir (BFng3308_CR14) 2004; 13
26220135 - Nat Genet. 2015 Aug;47(8):962. doi: 10.1038/ng0815-962b.
26260770 - Clin Genet. 2015 Oct;88(4):342-3. doi: 10.1111/cge.12652.
References_xml – volume: 294
  start-page: 303
  year: 2006
  end-page: 351
  ident: CR25
  article-title: Induction and specification of cranial placodes
  publication-title: Dev. Biol.
  doi: 10.1016/j.ydbio.2006.03.009
– volume: 139
  start-page: 3806
  year: 2012
  end-page: 3816
  ident: CR32
  article-title: Essential roles of the histone methyltransferase ESET in the epigenetic control of neural progenitor cells during development
  publication-title: Development
  doi: 10.1242/dev.082198
– volume: 13
  start-page: 587
  year: 2014
  end-page: 599
  ident: CR2
  article-title: Painful and painless channelopathies
  publication-title: Lancet Neurol.
  doi: 10.1016/S1474-4422(14)70024-9
– volume: 43
  start-page: 595
  year: 2011
  end-page: 600
  ident: CR37
  article-title: Mutations in cause hereditary sensory neuropathy with dementia and hearing loss
  publication-title: Nat. Genet.
  doi: 10.1038/ng.830
– volume: 18
  start-page: 168
  year: 2013
  end-page: 176
  ident: CR43
  article-title: Disruption of nodal architecture in skin biopsies of patients with demyelinating neuropathies
  publication-title: J. Peripher. Nerv. Syst.
  doi: 10.1111/jns5.12023
– volume: 13
  start-page: 799
  year: 2004
  end-page: 805
  ident: CR14
  article-title: A mutation in the nerve growth factor beta gene ( ) causes loss of pain perception
  publication-title: Hum. Mol. Genet.
  doi: 10.1093/hmg/ddh096
– volume: 238
  start-page: 931
  year: 2009
  end-page: 943
  ident: CR27
  article-title: Transcriptional control of Rohon-Beard sensory neuron development at the neural plate border
  publication-title: Dev. Dyn.
  doi: 10.1002/dvdy.21915
– volume: 6
  start-page: 59
  year: 2012
  ident: CR33
  article-title: Crosstalk among epigenetic pathways regulates neurogenesis
  publication-title: Front. Neurosci.
  doi: 10.3389/fnins.2012.00059
– ident: CR54
– volume: 3
  start-page: e3859
  year: 2008
  ident: CR8
  article-title: Prdm proto-oncogene transcription factor family expression and interaction with the Notch-Hes pathway in mouse neurogenesis
  publication-title: PLoS One
  doi: 10.1371/journal.pone.0003859
– volume: 73
  start-page: 435
  year: 2012
  end-page: 444
  ident: CR10
  article-title: Chronic pain: emerging evidence for the involvement of epigenetics
  publication-title: Neuron
  doi: 10.1016/j.neuron.2012.01.012
– volume: 106
  start-page: 17528
  year: 2009
  end-page: 17533
  ident: CR53
  article-title: SH3TC2/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system
  publication-title: Proc. Natl. Acad. Sci. USA
  doi: 10.1073/pnas.0905523106
– volume: 10
  start-page: 287
  year: 2006
  end-page: 333
  ident: CR4
  article-title: Survey of chronic pain in Europe: prevalence, impact on daily life, and treatment
  publication-title: Eur. J. Pain
  doi: 10.1016/j.ejpain.2005.06.009
– volume: 139
  start-page: 2267
  year: 2012
  end-page: 2282
  ident: CR7
  article-title: The Prdm family: expanding roles in stem cells and development
  publication-title: Development
  doi: 10.1242/dev.070110
– volume: 82
  start-page: 367
  year: 2012
  end-page: 373
  ident: CR5
  article-title: Human Mendelian pain disorders: a key to discovery and validation of novel analgesics
  publication-title: Clin. Genet.
  doi: 10.1111/j.1399-0004.2012.01942.x
– volume: 6
  start-page: 1207
  year: 2011
  end-page: 1216
  ident: CR34
  article-title: Epigenetic regulation of sensory neurogenesis in the dorsal root ganglion cell line ND7 by folic acid
  publication-title: Epigenetics
  doi: 10.4161/epi.6.10.17592
– volume: 30
  start-page: 715
  year: 2012
  end-page: 720
  ident: CR22
  article-title: Combined small-molecule inhibition accelerates developmental timing and converts human pluripotent stem cells into nociceptors
  publication-title: Nat. Biotechnol.
  doi: 10.1038/nbt.2249
– volume: 3
  start-page: 278
  year: 2012
  end-page: 290
  ident: CR31
  article-title: Epigenetic control on cell fate choice in neural stem cells
  publication-title: Protein Cell
  doi: 10.1007/s13238-012-2916-6
– volume: 46
  start-page: 249
  year: 2009
  end-page: 253
  ident: CR44
  article-title: The molecular landscape of mutations in primary microcephaly
  publication-title: J. Med. Genet.
  doi: 10.1136/jmg.2008.062380
– volume: 290
  start-page: 2443
  year: 2003
  end-page: 2454
  ident: CR3
  article-title: Lost productive time and cost due to common pain conditions in the US workforce
  publication-title: J. Am. Med. Assoc.
  doi: 10.1001/jama.290.18.2443
– volume: 48
  start-page: 131
  year: 2011
  end-page: 135
  ident: CR15
  article-title: A novel NGF mutation clarifies the molecular mechanism and extends the phenotypic spectrum of the HSAN5 neuropathy
  publication-title: J. Med. Genet.
  doi: 10.1136/jmg.2010.081455
– volume: 5
  start-page: 12
  year: 2013
  ident: CR9
  article-title: Genes and epigenetic processes as prospective pain targets
  publication-title: Genome Med.
  doi: 10.1186/gm416
– volume: 15
  start-page: 224
  year: 2012
  end-page: 233
  ident: CR28
  article-title: Chromatin modification of Notch targets in olfactory receptor neuron diversification
  publication-title: Nat. Neurosci.
  doi: 10.1038/nn.2998
– volume: 273
  start-page: 15933
  year: 1998
  end-page: 15939
  ident: CR39
  article-title: The PR domain of the Rb-binding zinc finger protein RIZ1 is a protein binding interface and is related to the SET domain functioning in chromatin-mediated gene expression
  publication-title: J. Biol. Chem.
  doi: 10.1074/jbc.273.26.15933
– volume: 12
  start-page: 436
  year: 2002
  end-page: 446
  ident: CR46
  article-title: Accounting for human polymorphisms predicted to affect protein function
  publication-title: Genome Res.
  doi: 10.1101/gr.212802
– volume: 18
  start-page: 1194
  year: 2012
  end-page: 1204
  ident: CR38
  article-title: Epigenetic mechanisms in neurological disease
  publication-title: Nat. Med.
  doi: 10.1038/nm.2828
– volume: 9
  start-page: e1003290
  year: 2013
  ident: CR17
  article-title: Mechanistic insight into the pathology of polyalanine expansion disorders revealed by a mouse model for X linked hypopituitarism
  publication-title: PLoS Genet.
  doi: 10.1371/journal.pgen.1003290
– volume: 22
  start-page: 1530
  year: 2014
  end-page: 1543
  ident: CR23
  article-title: Characterizing human stem cell-derived sensory neurons at the single-cell level reveals their ion channel expression and utility in pain research
  publication-title: Mol. Ther.
  doi: 10.1038/mt.2014.86
– volume: 30
  start-page: 1112
  year: 2014
  end-page: 1119
  ident: CR49
  article-title: SNPdryad: predicting deleterious non-synonymous human SNPs using only orthologous protein sequences
  publication-title: Bioinformatics
  doi: 10.1093/bioinformatics/btt769
– volume: 287
  start-page: 42995
  year: 2012
  end-page: 43006
  ident: CR29
  article-title: Transcription factor positive regulatory domain 4 (PRDM4) recruits protein arginine methyltransferase 5 (PRMT5) to mediate histone arginine methylation and control neural stem cell proliferation and differentiation
  publication-title: J. Biol. Chem.
  doi: 10.1074/jbc.M112.392746
– volume: 13
  start-page: 485
  year: 1996
  end-page: 488
  ident: CR13
  article-title: Mutations in the TRKA/NGF receptor gene in patients with congenital insensitivity to pain with anhidrosis
  publication-title: Nat. Genet.
  doi: 10.1038/ng0896-485
– volume: 444
  start-page: 894
  year: 2006
  end-page: 898
  ident: CR11
  article-title: An channelopathy causes congenital inability to experience pain
  publication-title: Nature
  doi: 10.1038/nature05413
– volume: 7
  start-page: 679
  year: 1998
  end-page: 684
  ident: CR42
  article-title: Specific interaction between the XNP/ATR-X gene product and the SET domain of the human EZH2 protein
  publication-title: Hum. Mol. Genet.
  doi: 10.1093/hmg/7.4.679
– volume: 33
  start-page: 781
  year: 2008
  end-page: 793
  ident: CR20
  article-title: The neural crest and neural crest cells: discovery and significance for theories of embryonic organization
  publication-title: J. Biosci.
  doi: 10.1007/s12038-008-0098-4
– volume: 297
  start-page: 1355
  year: 2002
  end-page: 1358
  ident: CR26
  article-title: Hamlet, a binary genetic switch between single- and multiple- dendrite neuron morphology
  publication-title: Science
  doi: 10.1126/science.1072387
– volume: 133
  start-page: 2462
  year: 2010
  end-page: 2474
  ident: CR52
  article-title: SH3TC2, a protein mutant in Charcot-Marie-Tooth neuropathy, links peripheral nerve myelination to endosomal recycling
  publication-title: Brain
  doi: 10.1093/brain/awq168
– volume: 79
  start-page: 370
  year: 2006
  end-page: 377
  ident: CR36
  article-title: Loss-of-function mutations in euchromatin histone methyl transferase 1 ( ) cause the 9q34 subtelomeric deletion syndrome
  publication-title: Am. J. Hum. Genet.
  doi: 10.1086/505693
– volume: 11
  start-page: 361
  year: 2014
  end-page: 362
  ident: CR47
  article-title: MutationTaster2: mutation prediction for the deep-sequencing age
  publication-title: Nat. Methods
  doi: 10.1038/nmeth.2890
– volume: 7
  start-page: 248
  year: 2010
  end-page: 249
  ident: CR48
  article-title: A method and server for predicting damaging missense mutations
  publication-title: Nat. Methods
– volume: 15
  start-page: 285
  year: 2005
  end-page: 293
  ident: CR16
  article-title: The other trinucleotide repeat: polyalanine expansion disorders
  publication-title: Curr. Opin. Genet. Dev.
  doi: 10.1016/j.gde.2005.04.003
– volume: 13
  start-page: 197
  year: 1969
  end-page: 216
  ident: CR19
  article-title: The normal sural nerve in man. I. Ultrastructure and numbers of fibres and cells
  publication-title: Acta Neuropathol.
  doi: 10.1007/BF00690642
– volume: 11
  start-page: 337
  year: 2012
  end-page: 338
  ident: CR6
  article-title: Anti-NGF painkillers back on track?
  publication-title: Nat. Rev. Drug Discov.
  doi: 10.1038/nrd3732
– volume: 18
  start-page: 331
  year: 1998
  end-page: 337
  ident: CR41
  article-title: Association of SET domain and myotubularin-related proteins modulates growth control
  publication-title: Nat. Genet.
  doi: 10.1038/ng0498-331
– volume: 36
  start-page: 685
  year: 1991
  end-page: 695
  ident: CR55
  article-title: hybridization: an improved whole-mount method for embryos
  publication-title: Methods Cell Biol.
  doi: 10.1016/S0091-679X(08)60307-6
– volume: 95
  start-page: 4152
  year: 1998
  end-page: 4157
  ident: CR40
  article-title: The C-terminal SET domains of ALL-1 and TRITHORAX interact with the INI1 and SNR1 proteins, components of the SWI/SNF complex
  publication-title: Proc. Natl. Acad. Sci. USA
  doi: 10.1073/pnas.95.8.4152
– volume: 7
  start-page: 271
  year: 1979
  end-page: 280
  ident: CR1
  article-title: The lateralisation of pain
  publication-title: Pain
  doi: 10.1016/0304-3959(79)90084-8
– volume: 390
  start-page: 247
  year: 2014
  end-page: 260
  ident: CR24
  article-title: Prdm12b specifies the p1 progenitor domain and reveals a role for V1 interneurons in swim movements
  publication-title: Dev. Biol.
  doi: 10.1016/j.ydbio.2014.02.025
– volume: 16
  start-page: 7351
  year: 1988
  end-page: 7367
  ident: CR50
  article-title: A general method of preparation and specific mutagenesis of DNA fragments: study of protein and DNA interactions
  publication-title: Nucleic Acids Res.
  doi: 10.1093/nar/16.15.7351
– volume: 120
  start-page: 3760
  year: 2010
  end-page: 3772
  ident: CR18
  article-title: Nociceptors: the sensors of the pain pathway
  publication-title: J. Clin. Invest.
  doi: 10.1172/JCI42843
– volume: 38
  start-page: 197
  year: 2013
  end-page: 206
  ident: CR30
  article-title: Prdm12 is induced by retinoic acid and exhibits anti-proliferative properties through the cell cycle modulation of P19 embryonic carcinoma cells
  publication-title: Cell Struct. Funct.
  doi: 10.1247/csf.13010
– volume: 13
  start-page: 1717
  year: 1999
  end-page: 1728
  ident: CR21
  article-title: Neurogenin1 and neurogenin2 control two distinct waves of neurogenesis in developing dorsal root ganglia
  publication-title: Genes Dev.
– volume: 7
  start-page: e46688
  year: 2012
  ident: CR45
  article-title: Predicting the functional effect of amino acid substitutions and indels
  publication-title: PLoS One
  doi: 10.1371/journal.pone.0046688
– volume: 125
  start-page: 2315
  year: 1998
  end-page: 2325
  ident: CR51
  article-title: The hem of the embryonic cerebral cortex is defined by the expression of multiple Wnt genes and is compromised in Gli3-deficient mice
  publication-title: Development
– volume: 23
  start-page: 185
  year: 1999
  end-page: 188
  ident: CR35
  article-title: Rett syndrome is caused by mutations in X-linked , encoding methyl-CpG-binding protein 2
  publication-title: Nat. Genet.
  doi: 10.1038/13810
– volume: 45
  start-page: 1399
  year: 2013
  end-page: 1404
  ident: CR12
  article-title: A gain-of-function mutation in SCN11A causes loss of pain perception
  publication-title: Nat. Genet.
  doi: 10.1038/ng.2767
– volume: 132
  start-page: 2355
  year: 2005
  end-page: 2363
  ident: CR56
  article-title: Neural crest determination by co-activation of and genes in ectoderm
  publication-title: Development
  doi: 10.1242/dev.01823
– volume: 38
  start-page: 197
  year: 2013
  ident: BFng3308_CR30
  publication-title: Cell Struct. Funct.
  doi: 10.1247/csf.13010
– volume: 13
  start-page: 485
  year: 1996
  ident: BFng3308_CR13
  publication-title: Nat. Genet.
  doi: 10.1038/ng0896-485
– volume: 13
  start-page: 799
  year: 2004
  ident: BFng3308_CR14
  publication-title: Hum. Mol. Genet.
  doi: 10.1093/hmg/ddh096
– volume: 15
  start-page: 285
  year: 2005
  ident: BFng3308_CR16
  publication-title: Curr. Opin. Genet. Dev.
  doi: 10.1016/j.gde.2005.04.003
– volume: 444
  start-page: 894
  year: 2006
  ident: BFng3308_CR11
  publication-title: Nature
  doi: 10.1038/nature05413
– volume: 45
  start-page: 1399
  year: 2013
  ident: BFng3308_CR12
  publication-title: Nat. Genet.
  doi: 10.1038/ng.2767
– volume: 18
  start-page: 1194
  year: 2012
  ident: BFng3308_CR38
  publication-title: Nat. Med.
  doi: 10.1038/nm.2828
– volume: 297
  start-page: 1355
  year: 2002
  ident: BFng3308_CR26
  publication-title: Science
  doi: 10.1126/science.1072387
– volume: 43
  start-page: 595
  year: 2011
  ident: BFng3308_CR37
  publication-title: Nat. Genet.
  doi: 10.1038/ng.830
– volume: 18
  start-page: 168
  year: 2013
  ident: BFng3308_CR43
  publication-title: J. Peripher. Nerv. Syst.
  doi: 10.1111/jns5.12023
– volume: 11
  start-page: 361
  year: 2014
  ident: BFng3308_CR47
  publication-title: Nat. Methods
  doi: 10.1038/nmeth.2890
– volume: 139
  start-page: 3806
  year: 2012
  ident: BFng3308_CR32
  publication-title: Development
  doi: 10.1242/dev.082198
– volume: 23
  start-page: 185
  year: 1999
  ident: BFng3308_CR35
  publication-title: Nat. Genet.
  doi: 10.1038/13810
– volume: 46
  start-page: 249
  year: 2009
  ident: BFng3308_CR44
  publication-title: J. Med. Genet.
  doi: 10.1136/jmg.2008.062380
– volume: 82
  start-page: 367
  year: 2012
  ident: BFng3308_CR5
  publication-title: Clin. Genet.
  doi: 10.1111/j.1399-0004.2012.01942.x
– volume: 16
  start-page: 7351
  year: 1988
  ident: BFng3308_CR50
  publication-title: Nucleic Acids Res.
  doi: 10.1093/nar/16.15.7351
– volume: 3
  start-page: e3859
  year: 2008
  ident: BFng3308_CR8
  publication-title: PLoS One
  doi: 10.1371/journal.pone.0003859
– volume: 30
  start-page: 715
  year: 2012
  ident: BFng3308_CR22
  publication-title: Nat. Biotechnol.
  doi: 10.1038/nbt.2249
– volume: 106
  start-page: 17528
  year: 2009
  ident: BFng3308_CR53
  publication-title: Proc. Natl. Acad. Sci. USA
  doi: 10.1073/pnas.0905523106
– ident: BFng3308_CR54
– volume: 3
  start-page: 278
  year: 2012
  ident: BFng3308_CR31
  publication-title: Protein Cell
  doi: 10.1007/s13238-012-2916-6
– volume: 290
  start-page: 2443
  year: 2003
  ident: BFng3308_CR3
  publication-title: J. Am. Med. Assoc.
  doi: 10.1001/jama.290.18.2443
– volume: 5
  start-page: 12
  year: 2013
  ident: BFng3308_CR9
  publication-title: Genome Med.
  doi: 10.1186/gm416
– volume: 9
  start-page: e1003290
  year: 2013
  ident: BFng3308_CR17
  publication-title: PLoS Genet.
  doi: 10.1371/journal.pgen.1003290
– volume: 15
  start-page: 224
  year: 2012
  ident: BFng3308_CR28
  publication-title: Nat. Neurosci.
  doi: 10.1038/nn.2998
– volume: 30
  start-page: 1112
  year: 2014
  ident: BFng3308_CR49
  publication-title: Bioinformatics
  doi: 10.1093/bioinformatics/btt769
– volume: 7
  start-page: e46688
  year: 2012
  ident: BFng3308_CR45
  publication-title: PLoS One
  doi: 10.1371/journal.pone.0046688
– volume: 10
  start-page: 287
  year: 2006
  ident: BFng3308_CR4
  publication-title: Eur. J. Pain
  doi: 10.1016/j.ejpain.2005.06.009
– volume: 79
  start-page: 370
  year: 2006
  ident: BFng3308_CR36
  publication-title: Am. J. Hum. Genet.
  doi: 10.1086/505693
– volume: 18
  start-page: 331
  year: 1998
  ident: BFng3308_CR41
  publication-title: Nat. Genet.
  doi: 10.1038/ng0498-331
– volume: 13
  start-page: 197
  year: 1969
  ident: BFng3308_CR19
  publication-title: Acta Neuropathol.
  doi: 10.1007/BF00690642
– volume: 294
  start-page: 303
  year: 2006
  ident: BFng3308_CR25
  publication-title: Dev. Biol.
  doi: 10.1016/j.ydbio.2006.03.009
– volume: 7
  start-page: 271
  year: 1979
  ident: BFng3308_CR1
  publication-title: Pain
  doi: 10.1016/0304-3959(79)90084-8
– volume: 12
  start-page: 436
  year: 2002
  ident: BFng3308_CR46
  publication-title: Genome Res.
  doi: 10.1101/gr.212802
– volume: 13
  start-page: 587
  year: 2014
  ident: BFng3308_CR2
  publication-title: Lancet Neurol.
  doi: 10.1016/S1474-4422(14)70024-9
– volume: 390
  start-page: 247
  year: 2014
  ident: BFng3308_CR24
  publication-title: Dev. Biol.
  doi: 10.1016/j.ydbio.2014.02.025
– volume: 273
  start-page: 15933
  year: 1998
  ident: BFng3308_CR39
  publication-title: J. Biol. Chem.
  doi: 10.1074/jbc.273.26.15933
– volume: 133
  start-page: 2462
  year: 2010
  ident: BFng3308_CR52
  publication-title: Brain
  doi: 10.1093/brain/awq168
– volume: 48
  start-page: 131
  year: 2011
  ident: BFng3308_CR15
  publication-title: J. Med. Genet.
  doi: 10.1136/jmg.2010.081455
– volume: 120
  start-page: 3760
  year: 2010
  ident: BFng3308_CR18
  publication-title: J. Clin. Invest.
  doi: 10.1172/JCI42843
– volume: 125
  start-page: 2315
  year: 1998
  ident: BFng3308_CR51
  publication-title: Development
  doi: 10.1242/dev.125.12.2315
– volume: 132
  start-page: 2355
  year: 2005
  ident: BFng3308_CR56
  publication-title: Development
  doi: 10.1242/dev.01823
– volume: 13
  start-page: 1717
  year: 1999
  ident: BFng3308_CR21
  publication-title: Genes Dev.
  doi: 10.1101/gad.13.13.1717
– volume: 6
  start-page: 59
  year: 2012
  ident: BFng3308_CR33
  publication-title: Front. Neurosci.
  doi: 10.3389/fnins.2012.00059
– volume: 22
  start-page: 1530
  year: 2014
  ident: BFng3308_CR23
  publication-title: Mol. Ther.
  doi: 10.1038/mt.2014.86
– volume: 95
  start-page: 4152
  year: 1998
  ident: BFng3308_CR40
  publication-title: Proc. Natl. Acad. Sci. USA
  doi: 10.1073/pnas.95.8.4152
– volume: 7
  start-page: 248
  year: 2010
  ident: BFng3308_CR48
  publication-title: Nat. Methods
  doi: 10.1038/nmeth0410-248
– volume: 287
  start-page: 42995
  year: 2012
  ident: BFng3308_CR29
  publication-title: J. Biol. Chem.
  doi: 10.1074/jbc.M112.392746
– volume: 6
  start-page: 1207
  year: 2011
  ident: BFng3308_CR34
  publication-title: Epigenetics
  doi: 10.4161/epi.6.10.17592
– volume: 33
  start-page: 781
  year: 2008
  ident: BFng3308_CR20
  publication-title: J. Biosci.
  doi: 10.1007/s12038-008-0098-4
– volume: 73
  start-page: 435
  year: 2012
  ident: BFng3308_CR10
  publication-title: Neuron
  doi: 10.1016/j.neuron.2012.01.012
– volume: 139
  start-page: 2267
  year: 2012
  ident: BFng3308_CR7
  publication-title: Development
  doi: 10.1242/dev.070110
– volume: 7
  start-page: 679
  year: 1998
  ident: BFng3308_CR42
  publication-title: Hum. Mol. Genet.
  doi: 10.1093/hmg/7.4.679
– volume: 11
  start-page: 337
  year: 2012
  ident: BFng3308_CR6
  publication-title: Nat. Rev. Drug Discov.
  doi: 10.1038/nrd3732
– volume: 238
  start-page: 931
  year: 2009
  ident: BFng3308_CR27
  publication-title: Dev. Dyn.
  doi: 10.1002/dvdy.21915
– volume: 36
  start-page: 685
  year: 1991
  ident: BFng3308_CR55
  publication-title: Methods Cell Biol.
  doi: 10.1016/S0091-679X(08)60307-6
– reference: 26220135 - Nat Genet. 2015 Aug;47(8):962. doi: 10.1038/ng0815-962b.
– reference: 26260770 - Clin Genet. 2015 Oct;88(4):342-3. doi: 10.1111/cge.12652.
SSID ssj0014408
Score 2.529563
Snippet Geoffrey Woods, Jan Senderek and colleagues show that biallelic mutations in PRDM12 cause congenital insensitivity to pain. They further show that PRDM12 is...
Pain perception has evolved as a warning mechanism to alert organisms to tissue damage and dangerous environments. In humans, however, undesirable, excessive...
Pain perception has evolved as a warning mechanism to alert organisms to tissue damage and dangerous environments (1,2). In humans, however, undesirable,...
Pain perception has evolved as a warning mechanism to alert organisms to tissue damage and dangerous environments1,2. In humans, however, undesirable,...
Pain perception has evolved as a warning mechanism to alert organisms to tissue damage and dangerous environments 1 , 2 . In humans, however, undesirable,...
SourceID swepub
pubmedcentral
proquest
gale
pubmed
crossref
springer
SourceType Open Access Repository
Aggregation Database
Index Database
Enrichment Source
Publisher
StartPage 803
SubjectTerms 13
13/100
14/63
38
45
45/23
631/208/1516
692/699/375/430
Agriculture
Animal Genetics and Genomics
Animals
Biomedical research
Biomedicine
Biopsy
Cancer Research
Carrier Proteins - genetics
Carrier Proteins - metabolism
Chlorocebus aethiops
Consanguinity
COS Cells
Epigenetics
Female
Gene Function
Gene mutations
Genes
Genetic aspects
Genetic Association Studies
Genetic regulation
Health aspects
Hereditary Sensory and Autonomic Neuropathies - genetics
Human Genetics
Humans
Identification and classification
letter
Male
Medical treatment
Mutation
Nerve Tissue Proteins - genetics
Nerve Tissue Proteins - metabolism
Neurogenesis
Nociception
Nociceptors - metabolism
Pain Insensitivity, Congenital - genetics
Pain Perception
Patients
Pedigree
Polymorphism, Single Nucleotide
Proteins
Stem cells
Studies
Xenopus laevis
Title Transcriptional regulator PRDM12 is essential for human pain perception
URI https://link.springer.com/article/10.1038/ng.3308
https://www.ncbi.nlm.nih.gov/pubmed/26005867
https://www.proquest.com/docview/1694690828
https://www.proquest.com/docview/1691601363
https://pubmed.ncbi.nlm.nih.gov/PMC7212047
http://kipublications.ki.se/Default.aspx?queryparsed=id:131562917
Volume 47
hasFullText 1
inHoldings 1
isFullTextHit
isPrint
link http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwfV3db9MwELdgExIvE4yvwpgyhMZTWJzYsfOE9slA2pgKQ32zYscuFVNSmvaB_567xMmWIniJovqXKrbP57vc-XeEvHWp1TpiNMw41yEzoggzKYuQaSGdjqykBh3Fi8v0_Jp9nvCJ_-BW-7TKTic2irqoDH4jP6Bphp4cOAgf5r9CrBqF0VVfQuM-2UTqMkzpEpPe4cK4ZXsULkU_CcOUW-0xc3lQTt-DJy8Hu9G6Tr6zKa0nTPZR0zWG0WZXOntEtrw5GRy28_-Y3LPlNnnQFpj8_YR8bLaiTjEAcNGWnq8WwdX45ILGwawOkD28hIV-E4ABGzRF-4J5PoNLn_TylFyfnX47Pg996YTQiCRbhsJwy2ObmKjIwCbLiti5hMZRoQsKXmnGwBEpYqFZYZ02sbWOW2ozy5xmxiQ0eUY2yqq0L0jQ2ITCyZynOUMqIAFGhDUxzLKzIhcjst8NoTKeVxzLW9yoJr6dSFVOFY71iAQ9cN5SafwNeYNzoJCYosTMl2m-qmv16ct3dchicJwTUDn_An0dD0DvPMhV8DYm96cNoE9IeDVA7gyQsLzMsLmTB-WXd61uhXFE9vpmfBJT1kpbrRoMTZERLxmR56349N3GqgBcpjB2YiBYPQBJv4ct5exHQ_4NHnscMXhyrxPBO6-1Ppr7rWwO_tb_9BPurOLQS85e_r-Pr8hDMBN5m6S8QzaWi5V9DabYUu826w2u8pjuks2j08ur8R-drjUs
linkProvider ProQuest
linkToHtml http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwtV3db9MwELdGJ8ReJr4pDMgQjKewJLbj5AGhwTZatpapbGhvJnacrmJKStMK7Z_ib-QuXzRF8LaXqqp_ieLL-XzXO_-OkJeJb5RymGuHnCubaRHbYRDENlMiSJRjAldjoDgY-r0z9umcn6-RX_VZGCyrrG1iYajjTON_5LuuH2IkBwHCu-kPG7tGYXa1bqFRqsWRufoJIVv-tr8P7_eV5x0enH7o2VVXAVsLGs5tobnhnqHaiUNwV8LYSxLqek6sYhcCtpCBjx57QrHYJEp7xiTcuCY0LFFMa-pSuO8Nss4ohDIdsv7-YHgyavIW2L-5yK_6GJlhYnSzPNge7KbjN5RiF8ul_W91F1jaBldLNJs87QqnabEPHt4mm5UDa-2VGneHrJn0LrlZtrS8ukc-FptfbYoAOCub3Wcz62S0P3A9a5JbyFeegmm5tMBltoo2gdY0msBHU2Zzn5xdi1gfkE6apeYRsQovVCRBxP2IIfmQALfFaA_0KjEiEl2yU4tQ6orJHBtqXMoio04DmY4lyrpLrAY4Lck7_oa8wHcgkQojxVqbcbTIc9n__FXuMQ9CdQpG7l-gL6MW6HUFSjJ4Gh1V5xtgTkix1UJutZCwoHV7uNYHWRmUXP5R_y7ZbobxSiySS022KDCujxx8tEselurTTBv7EPDAB9mJlmI1AKQZb4-kk4uCblyAd-MwuHK7VsGlx1qV5k6pm63bVj99h29GcpglZ4__P8fn5FbvdHAsj_vDoydkA5xUXpZIb5HOfLYwT8ERnKtn1eqzyLfrXvC_AWl-ckA
linkToPdf http://utb.summon.serialssolutions.com/2.0.0/link/0/eLvHCXMwtV1Lb9NAEF6VIhCXijeBAi6CcjKx9-G1DwhVhNBQWqrSotwWe70bIio7xIlQ_xq_jhm_iIPg1ksUZT9b3vE8M7MzhDy3gUkSj_tuJETici1TNwrD1OWJDG3imdDXGCgeHgX7Z_zDWIw3yK_mLAyWVTY6sVTUaa7xP_K-H0QYyUGA0Ld1WcTxYPhm9sPFCVKYaW3GaVQscmAufkL4VrweDeBdv6B0-O707b5bTxhwtWTRwpVaGEEN014agesSpdRa5lMvTVIfgreIg7-eUpnw1NhEU2OsML6JDLcJ15r5DO57hVyVTPgoY3LcBnuYM62O4QUYo2GKdKs64h72s8krxnCe5YolXLcHKwZxvVizzdiudTctLeLwJtmqXVlnr-K9W2TDZLfJtWq45cUd8r40g41SAuC8Gnufz53jk8GhT51p4WDn8gyUzLkDzrNTDgx0ZvEUPtqCm7vk7FKIeo9sZnlmHhCn9EelDWMRxBzbEElwYIymwGHWyFj2yG5DQqXrnuY4WuNclbl1FqpsopDWPeK0wFnVxuNvyDN8BwqbYmTIXpN4WRRq9OmL2uMUgnYG6u5foM8nHdDLGmRzeBod1ycdYE_YbKuD3O4gQbR1d7nhB1WrlkL9EYQe2WmX8Uosl8tMviwxfoDd-FiP3K_Yp902TiQQYQC0kx3GagHYcLy7kk2_lY3HJfg5HocrdxoWXHmsdWruVrzZuW3903f4ZhTIDBX84f_3-JRcBzFXH0dHB4_IDfBWRVUrvU02F_OleQwe4SJ5UoqeQ75etqz_BmcZdRA
openUrl ctx_ver=Z39.88-2004&ctx_enc=info%3Aofi%2Fenc%3AUTF-8&rfr_id=info%3Asid%2Fsummon.serialssolutions.com&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.atitle=Transcriptional+regulator+PRDM12+is+essential+for+human+pain+perception&rft.jtitle=Nature+genetics&rft.au=Chen%2C+Ya-Chun&rft.au=Auer-Grumbach%2C+Michaela&rft.au=Matsukawa%2C+Shinya&rft.au=Zitzelsberger%2C+Manuela&rft.date=2015-07-01&rft.issn=1546-1718&rft.eissn=1546-1718&rft.volume=47&rft.issue=7&rft.spage=803&rft_id=info:doi/10.1038%2Fng.3308&rft.externalDBID=NO_FULL_TEXT
thumbnail_l http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/lc.gif&issn=1061-4036&client=summon
thumbnail_m http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/mc.gif&issn=1061-4036&client=summon
thumbnail_s http://covers-cdn.summon.serialssolutions.com/index.aspx?isbn=/sc.gif&issn=1061-4036&client=summon