Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism
Zouaghi, Yassine, Choudhary, Anbreen Mazhar, Irshad, Saba, Adamo, Michela, Rehman, Khaleeq Ur, Fatima, Ambrin, Shahid, Mariam, Najmi, Nida, De Azevedo Correa, Fernanda, Habibi, Imen, Boizot, Alexia, Niederländer, Nicolas J, Ansar, Muhammad, Santoni, Federico, Acierno, James, Pitteloud, Nelly
Published in BMC genomics (14.08.2024)
Published in BMC genomics (14.08.2024)
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DCC/NTN1 complex mutations in patients with congenital hypogonadotropic hypogonadism impair GnRH neuron development
Bouilly, Justine, Messina, Andrea, Papadakis, Georgios, Cassatella, Daniele, Xu, Cheng, Acierno, James S, Tata, Brooke, Sykiotis, Gerasimos, Santini, Sara, Sidis, Yisrael, Elowe-Gruau, Eglantine, Phan-Hug, Franziska, Hauschild, Michael, Bouloux, Pierre-Marc, Quinton, Richard, Lang-Muritano, Mariarosaria, Favre, Lucie, Marino, Laura, Giacobini, Paolo, Dwyer, Andrew A, Niederländer, Nicolas J, Pitteloud, Nelly
Published in Human molecular genetics (15.01.2018)
Published in Human molecular genetics (15.01.2018)
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Journal Article
Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants
Xu, Cheng, Cassatella, Daniele, van der Sloot, Almer M, Quinton, Richard, Hauschild, Michael, De Geyter, Christian, Flück, Christa, Feller, Katrin, Bartholdi, Deborah, Nemeth, Attila, Halperin, Irene, Pekic Djurdjevic, Sandra, Maeder, Philippe, Papadakis, Georgios, Dwyer, Andrew A, Marino, Laura, Favre, Lucie, Pignatelli, Duarte, Niederländer, Nicolas J, Acierno, James, Pitteloud, Nelly
Published in Genetics in medicine (01.08.2018)
Published in Genetics in medicine (01.08.2018)
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Journal Article
Pathogenic mosaic variants in congenital hypogonadotropic hypogonadism
Acierno, James S., Xu, Cheng, Papadakis, Georgios E., Niederländer, Nicolas J., Rademaker, Jesse D., Meylan, Jenny, Messina, Andrea, Kolesinska, Zofia, Quinton, Richard, Lang-Muritano, Mariarosaria, Bartholdi, Deborah, Halperin, Irene, De Geyter, Christian, Bouligand, Jérôme, Bartoloni, Lucia, Young, Jacques, Santoni, Federico A., Pitteloud, Nelly
Published in Genetics in medicine (01.11.2020)
Published in Genetics in medicine (01.11.2020)
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Spot14/Mig12 heterocomplex sequesters polymerization and restrains catalytic function of human acetyl-CoA carboxylase 2
Park, Sungjo, Hwang, In-Wook, Makishima, Yu, Perales-Clemente, Ester, Kato, Tatsuya, Niederländer, Nicolas J., Park, Enoch Y., Terzic, Andre
Published in Journal of molecular recognition (01.12.2013)
Published in Journal of molecular recognition (01.12.2013)
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Journal Article
Testosterone-induced increase in libido in a patient with a loss-of-function mutation in the AR gene
Marino, Laura, Messina, Andrea, S Acierno, James, Phan-Hug, Franziska, J Niederländer, Nicolas, Santoni, Federico, La Rosa, Stefano, Pitteloud, Nelly
Published in Endocrinology, diabetes & metabolism case reports (01.06.2021)
Published in Endocrinology, diabetes & metabolism case reports (01.06.2021)
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Stem cells transform into a cardiac phenotype with remodeling of the nuclear transport machinery
Perez-Terzic, Carmen, Faustino, Randolph S, Boorsma, Brian J, Arrell, D Kent, Niederländer, Nicolas J, Behfar, Atta, Terzic, Andre
Published in Nature clinical practice cardiovascular medicine (01.02.2007)
Published in Nature clinical practice cardiovascular medicine (01.02.2007)
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Journal Article
Neuron-Derived Neurotrophic Factor Is Mutated in Congenital Hypogonadotropic Hypogonadism
Messina, Andrea, Pulli, Kristiina, Santini, Sara, Acierno, James, Känsäkoski, Johanna, Cassatella, Daniele, Xu, Cheng, Casoni, Filippo, Malone, Samuel A., Ternier, Gaetan, Conte, Daniele, Sidis, Yisrael, Tommiska, Johanna, Vaaralahti, Kirsi, Dwyer, Andrew, Gothilf, Yoav, Merlo, Giorgio R., Santoni, Federico, Niederländer, Nicolas J., Giacobini, Paolo, Raivio, Taneli, Pitteloud, Nelly
Published in American journal of human genetics (02.01.2020)
Published in American journal of human genetics (02.01.2020)
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Journal Article
NOS1 mutations cause hypogonadotropic hypogonadism with sensory and cognitive deficits that can be reversed in infantile mice
Chachlaki, Konstantina, Messina, Andrea, Delli, Virginia, Leysen, Valerie, Maurnyi, Csilla, Huber, Chieko, Ternier, Gaëtan, Skrapits, Katalin, Papadakis, Georgios, Shruti, Sonal, Kapanidou, Maria, Cheng, Xu, Acierno, James, Rademaker, Jesse, Rasika, Sowmyalakshmi, Quinton, Richard, Niedziela, Marek, L'Allemand, Dagmar, Pignatelli, Duarte, Dirlewander, Mirjam, Lang-Muritano, Mariarosaria, Kempf, Patrick, Catteau-Jonard, Sophie, Niederländer, Nicolas J, Ciofi, Philippe, Tena-Sempere, Manuel, Garthwaite, John, Storme, Laurent, Avan, Paul, Hrabovszky, Erik, Carleton, Alan, Santoni, Federico, Giacobini, Paolo, Pitteloud, Nelly, Prevot, Vincent
Published in Science translational medicine (05.10.2022)
Published in Science translational medicine (05.10.2022)
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Journal Article
KLB, encoding β‐Klotho, is mutated in patients with congenital hypogonadotropic hypogonadism
Xu, Cheng, Messina, Andrea, Somm, Emmanuel, Miraoui, Hichem, Kinnunen, Tarja, Acierno, James, Niederländer, Nicolas J, Bouilly, Justine, Dwyer, Andrew A, Sidis, Yisrael, Cassatella, Daniele, Sykiotis, Gerasimos P, Quinton, Richard, De Geyter, Christian, Dirlewanger, Mirjam, Schwitzgebel, Valérie, Cole, Trevor R, Toogood, Andrew A, Kirk, Jeremy MW, Plummer, Lacey, Albrecht, Urs, Crowley, William F, Mohammadi, Moosa, Tena‐Sempere, Manuel, Prevot, Vincent, Pitteloud, Nelly
Published in EMBO molecular medicine (01.10.2017)
Published in EMBO molecular medicine (01.10.2017)
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Journal Article
β-Klotho deficiency shifts the gut-liver bile acid axis and induces hepatic alterations in mice
Somm, Emmanuel, Henry, Hugues, Bruce, Stephen J, Bonnet, Nicolas, Montandon, Sophie A, Niederländer, Nicolas J, Messina, Andrea, Aeby, Sébastien, Rosikiewicz, Marta, Fajas, Lluis, Sempoux, Christine, Ferrari, Serge L, Greub, Gilbert, Pitteloud, Nelly
Published in American journal of physiology: endocrinology and metabolism (01.11.2018)
Published in American journal of physiology: endocrinology and metabolism (01.11.2018)
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Journal Article
Cardioinductive Network Guiding Stem Cell Differentiation Revealed by Proteomic Cartography of Tumor Necrosis Factor α‐Primed Endodermal Secretome
Arrell, D. Kent, Niederländer, Nicolas J., Faustino, Randolph S., Behfar, Atta, Terzic, Andre
Published in Stem cells (Dayton, Ohio) (01.02.2008)
Published in Stem cells (Dayton, Ohio) (01.02.2008)
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Opposing roles for p16Ink4a and p19Arf in senescence and ageing caused by BubR1 insufficiency
Baker, Darren J., Perez-Terzic, Carmen, Jin, Fang, Pitel, Kevin S., Niederländer, Nicolas J., Jeganathan, Karthik, Yamada, Satsuki, Reyes, Santiago, Rowe, Lois, Hiddinga, H. Jay, Eberhardt, Norman L., Terzic, Andre, van Deursen, Jan M.
Published in Nature cell biology (01.07.2008)
Published in Nature cell biology (01.07.2008)
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Journal Article
Decoded Calreticulin‐Deficient Embryonic Stem Cell Transcriptome Resolves Latent Cardiophenotype
Faustino, Randolph S., Chiriac, Anca, Niederlander, Nicolas J., Nelson, Timothy J., Behfar, Atta, Mishra, Prasanna K., Macura, Slobodan, Michalak, Marek, Terzic, Andre, Perez‐Terzic, Carmen
Published in Stem cells (Dayton, Ohio) (01.07.2010)
Published in Stem cells (Dayton, Ohio) (01.07.2010)
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Journal Article
Opposing roles for p16Ink4a and p19Arf in senescence and ageing caused by BubR1 insufficiency
Baker, Darren J, Perez-terzic, Carmen, Jin, Fang, Pitel, Kevin S, Niederländer, Nicolas J, Jeganathan, Karthik, Yamada, Satsuki, Reyes, Santiago, Rowe, Lois, Hiddinga, H Jay, Eberhardt, Norman L, Terzic, Andre, Van Deursen, Jan M
Published in Nature cell biology (01.06.2012)
Published in Nature cell biology (01.06.2012)
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Erratum: Opposing roles for p16Ink4a and p19Arf in senescence and ageing caused by BubR1 insufficiency
Baker, Darren J., Perez-Terzic, Carmen, Jin, Fang, Pitel, Kevin S., Niederländer, Nicolas J., Jeganathan, Karthik, Yamada, Satsuki, Reyes, Santiago, Rowe, Lois, Hiddinga, H. Jay, Eberhardt, Norman L., Terzic, Andre, van Deursen, Jan M.
Published in Nature cell biology (30.05.2012)
Published in Nature cell biology (30.05.2012)
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Nitric Oxide deficiency linking a defective minipuberty to the appearance of comorbidities: new therapeutic possibilities
Chachlaki, Konstantina, Messina, Andrea, Delli, Virginia, Leysen, Valerie, Maurnyi, Csilla, Scrapits, Katalin, Ciofi, Philippe, Niederlander, Nicolas J., Tena-Sempere, Manuel, Storme, Laurent, Avan, Paul, Hrabovszky, Erik, Garthwaite, John, Santoni, Federico, Giacobini, Paolo, Pitteloud, Nelly, Prevot, Vincent
Published in Free radical biology & medicine (20.08.2022)
Published in Free radical biology & medicine (20.08.2022)
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Journal Article
Opposing roles for p16 Ink4a and p19 Arf in senescence and ageing caused by BubR1 insufficiency
Terzic, Andre, Rowe, Lois, Baker, Darren J, Perez-Terzic, Carmen, Jin, Fang, Niederländer, Nicolas J, Hiddinga, H. Jay, Yamada, Satsuki, Jeganathan, Karthik, Eberhardt, Norman L, Pitel, Kevin, Reyes, Santiago, van Deursen, Jan M
Published in Nature cell biology (01.07.2008)
Published in Nature cell biology (01.07.2008)
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Journal Article
Opposing roles for [p16.sup.Ink4a] and [p19.sup.Arf] in senescence and ageing caused by BubR1 insufficiency
Baker, Darren J, Perez-Terzic, Carmen, Jin, Fang, Pitel, Kevin, Niederlander, Nicolas J, Jeganathan, Karthik, Yamada, Satsuki, Reyes, Santiago, Rowe, Lois, Hiddinga, H. Jay, Eberhardt, Norman L, Terzic, Andre, van Deursen, Jan M
Published in Nature cell biology (01.07.2008)
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Published in Nature cell biology (01.07.2008)
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MODULATING BODY WEIGHT
RAMIREZ SANTIAGO REYES, ALEKSEEV ALEXEY E, YAMADA SATSUKI, ZINGMAN LEONID V, NIEDERLANDER NICOLAS J, TERZIC ANDRE
Year of Publication 16.12.2010
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Year of Publication 16.12.2010
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