Amelogenesis Imperfecta; Genes, Proteins, and Pathways
Smith, Claire E L, Poulter, James A, Antanaviciute, Agne, Kirkham, Jennifer, Brookes, Steven J, Inglehearn, Chris F, Mighell, Alan J
Published in Frontiers in physiology (26.06.2017)
Published in Frontiers in physiology (26.06.2017)
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A missense mutation of Leu74Pro of OGR1 found in familial amelogenesis imperfecta actually causes the loss of the pH-sensing mechanism
Sato, Koichi, Mogi, Chihiro, Mighell, Alan J., Okajima, Fumikazu
Published in Biochemical and biophysical research communications (11.06.2020)
Published in Biochemical and biophysical research communications (11.06.2020)
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Mutations in the pH-Sensing G-protein-Coupled Receptor GPR68 Cause Amelogenesis Imperfecta
Parry, David A., Smith, Claire E.L., El-Sayed, Walid, Poulter, James A., Shore, Roger C., Logan, Clare V., Mogi, Chihiro, Sato, Koichi, Okajima, Fumikazu, Harada, Akihiro, Zhang, Hong, Koruyucu, Mine, Seymen, Figen, Hu, Jan C.-C., Simmer, James P., Ahmed, Mushtaq, Jafri, Hussain, Johnson, Colin A., Inglehearn, Chris F., Mighell, Alan J.
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
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Identification of Mutations in SLC24A4, Encoding a Potassium-Dependent Sodium/Calcium Exchanger, as a Cause of Amelogenesis Imperfecta
Parry, David A., Poulter, James A., Logan, Clare V., Brookes, Steven J., Jafri, Hussain, Ferguson, Christopher H., Anwari, Babra M., Rashid, Yasmin, Zhao, Haiqing, Johnson, Colin A., Inglehearn, Chris F., Mighell, Alan J.
Published in American journal of human genetics (07.02.2013)
Published in American journal of human genetics (07.02.2013)
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Journal Article
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6
Ratbi, Ilham, Falkenberg, Kim D., Sommen, Manou, Al-Sheqaih, Nada, Guaoua, Soukaina, Vandeweyer, Geert, Urquhart, Jill E., Chandler, Kate E., Williams, Simon G., Roberts, Neil A., El Alloussi, Mustapha, Black, Graeme C., Ferdinandusse, Sacha, Ramdi, Hind, Heimler, Audrey, Fryer, Alan, Lynch, Sally-Ann, Cooper, Nicola, Ong, Kai Ren, Smith, Claire E.L., Inglehearn, Christopher F., Mighell, Alan J., Elcock, Claire, Poulter, James A., Tischkowitz, Marc, Davies, Sally J., Sefiani, Abdelaziz, Mironov, Aleksandr A., Newman, William G., Waterham, Hans R., Van Camp, Guy
Published in American journal of human genetics (01.10.2015)
Published in American journal of human genetics (01.10.2015)
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A homozygous STIM1 mutation impairs store-operated calcium entry and natural killer cell effector function without clinical immunodeficiency
Parry, David A., PhD, Holmes, Tim D., PhD, Gamper, Nikita, PhD, El-Sayed, Walid, BDS, PhD, Hettiarachchi, Nishani T., PhD, Ahmed, Mushtaq, PhD, Cook, Graham P., PhD, Logan, Clare V., PhD, Johnson, Colin A., PhD, Joss, Shelagh, MRCP, Peers, Chris, PhD, Prescott, Katrina, FRCP, Savic, Sinisa, FRCP, PhD, Inglehearn, Chris F., PhD, Mighell, Alan J., FDSRCS, PhD
Published in Journal of allergy and clinical immunology (01.03.2016)
Published in Journal of allergy and clinical immunology (01.03.2016)
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Journal Article
Spectrum of PEX1 and PEX6 variants in Heimler syndrome
Smith, Claire E L, Poulter, James A, Levin, Alex V, Capasso, Jenina E, Price, Susan, Ben-Yosef, Tamar, Sharony, Reuven, Newman, William G, Shore, Roger C, Brookes, Steven J, Mighell, Alan J, Inglehearn, Chris F
Published in European journal of human genetics : EJHG (01.11.2016)
Published in European journal of human genetics : EJHG (01.11.2016)
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Journal Article
Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutations
de la Dure-Molla, Muriel, Quentric, Mickael, Yamaguti, Paulo Marcio, Acevedo, Ana-Carolina, Mighell, Alan J, Vikkula, Miikka, Huckert, Mathilde, Berdal, Ariane, Bloch-Zupan, Agnes
Published in Orphanet journal of rare diseases (14.06.2014)
Published in Orphanet journal of rare diseases (14.06.2014)
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Mutations in the Beta Propeller WDR72 Cause Autosomal-Recessive Hypomaturation Amelogenesis Imperfecta
El-Sayed, Walid, Parry, David A., Shore, Roger C., Ahmed, Mushtaq, Jafri, Hussain, Rashid, Yasmin, Al-Bahlani, Suhaila, Al Harasi, Sharifa, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.
Published in American journal of human genetics (13.11.2009)
Published in American journal of human genetics (13.11.2009)
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Journal Article
Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta
Poulter, James A, El-Sayed, Walid, Shore, Roger C, Kirkham, Jennifer, Inglehearn, Chris F, Mighell, Alan J
Published in European journal of human genetics : EJHG (01.01.2014)
Published in European journal of human genetics : EJHG (01.01.2014)
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Journal Article
Mutations in C4orf26, Encoding a Peptide with In Vitro Hydroxyapatite Crystal Nucleation and Growth Activity, Cause Amelogenesis Imperfecta
Parry, David A., Brookes, Steven J., Logan, Clare V., Poulter, James A., El-Sayed, Walid, Al-Bahlani, Suhaila, Al Harasi, Sharifa, Sayed, Jihad, Raïf, El Mostafa, Shore, Roger C., Dashash, Mayssoon, Barron, Martin, Morgan, Joanne E., Carr, Ian M., Taylor, Graham R., Johnson, Colin A., Aldred, Michael J., Dixon, Michael J., Wright, J. Tim, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.
Published in American journal of human genetics (07.09.2012)
Published in American journal of human genetics (07.09.2012)
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Journal Article
Mutations in CNNM4 Cause Jalili Syndrome, Consisting of Autosomal-Recessive Cone-Rod Dystrophy and Amelogenesis Imperfecta
Parry, David A., Mighell, Alan J., El-Sayed, Walid, Shore, Roger C., Jalili, Ismail K., Dollfus, Hélène, Bloch-Zupan, Agnes, Carlos, Roman, Carr, Ian M., Downey, Louise M., Blain, Katharine M., Mansfield, David C., Shahrabi, Mehdi, Heidari, Mansour, Aref, Parissa, Abbasi, Mohsen, Michaelides, Michel, Moore, Anthony T., Kirkham, Jennifer, Inglehearn, Chris F.
Published in American journal of human genetics (01.02.2009)
Published in American journal of human genetics (01.02.2009)
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Journal Article
A Fourth KLK4 Mutation Is Associated with Enamel Hypomineralisation and Structural Abnormalities
Smith, Claire E L, Kirkham, Jennifer, Day, Peter F, Soldani, Francesca, McDerra, Esther J, Poulter, James A, Inglehearn, Christopher F, Mighell, Alan J, Brookes, Steven J
Published in Frontiers in physiology (29.05.2017)
Published in Frontiers in physiology (29.05.2017)
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Real-time PCR based on SYBR-Green I fluorescence: an alternative to the TaqMan assay for a relative quantification of gene rearrangements, gene amplifications and micro gene deletions
Ponchel, Frederique, Toomes, Carmel, Bransfield, Kieran, Leong, Fong T, Douglas, Susan H, Field, Sarah L, Bell, Sandra M, Combaret, Valerie, Puisieux, Alain, Mighell, Alan J, Robinson, Philip A, Inglehearn, Chris F, Isaacs, John D, Markham, Alex F
Published in BMC biotechnology (13.10.2003)
Published in BMC biotechnology (13.10.2003)
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Identification of Microcephalin, a Protein Implicated in Determining the Size of the Human Brain
Jackson, Andrew P., Eastwood, Helen, Bell, Sandra M., Adu, Jimi, Toomes, Carmel, Carr, Ian M., Roberts, Emma, Hampshire, Daniel J., Crow, Yanick J., Mighell, Alan J., Karbani, Gulshan, Jafri, Hussain, Rashid, Yasmin, Mueller, Robert F., Markham, Alexander F., Woods, C. Geoffrey
Published in American journal of human genetics (01.07.2002)
Published in American journal of human genetics (01.07.2002)
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Journal Article
A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta
Poulter, James A., Brookes, Steven J., Shore, Roger C., Smith, Claire E. L., Abi Farraj, Layal, Kirkham, Jennifer, Inglehearn, Chris F., Mighell, Alan J.
Published in Human molecular genetics (15.04.2014)
Published in Human molecular genetics (15.04.2014)
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Journal Article
Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta
Poulter, James A, Murillo, Gina, Brookes, Steven J, Smith, Claire E L, Parry, David A, Silva, Sandra, Kirkham, Jennifer, Inglehearn, Chris F, Mighell, Alan J
Published in Human molecular genetics (15.10.2014)
Published in Human molecular genetics (15.10.2014)
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