Mutations Preventing Regulated Exon Skipping in MET Cause Osteofibrous Dysplasia

Autor: Christine Neyt, Adrienne M. Flanagan, Haemish Crawford, Mary J Gray, Angela Weng, Peiqiang Su, Raj P. Kapur, Carol Wise, Philipp Hammerschmidt, Michael Dray, Hans-Georg Sprenger, Karl E. Rathjen, Lucie Dupuis, Dongping Zhang, Jonathan J. Rios, Megan J. Wilson, Stephen P. Robertson, Gino R. Somers, Christian R. Marshall, Swarkar Sharma, Philip B. Daniel, Simon Manners, Lori A. Karol, Benjamin A. Alman, Nandina Paria, David Markie, Peter Kannu, Edward F. McCarthy, Roberto Mendoza-Londono, Heather Whetstone, Rebekah Jobling, Andrew W. Howard

Publikováno v: American journal of human genetics. 97(6)

The periosteum contributes to bone repair and maintenance of cortical bone mass. In contrast to the understanding of bone development within the epiphyseal growth plate, factors that regulate periosteal osteogenesis have not been studied as intensive

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64625280b424d5af2b8a1c6ebd31915e
https://pubmed.ncbi.nlm.nih.gov/26637977

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

Autor: Sahar Mansour, Esra Asilmaz, Chong Ae Kim, Mary J Gray, William Drake, Caroline Brain, Salim Aftimos, Frances Elmslie, Michael A. Simpson, Richard C. Trembath, Melita Irving, Stephen P. Robertson, Muriel Holder-Espinasse, Sue E Holder, Katherine H. Kim, Barbara K. Burton, Dimitra Dafou, Richard M. Pauli, Helen Stewart

Publikováno v: Nature Genetics. 43:303-305

We used an exome-sequencing strategy and identified an allelic series of NOTCH2 mutations in Hajdu-Cheney syndrome, an autosomal dominant multisystem disorder characterized by severe and progressive bone loss. The Hajdu-Cheney syndrome mutations are

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b83c238c6f3d04a51c8dfabe7d79923c
https://doi.org/10.1038/ng.779

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

Autor: Jacques L. Michaud, Andrew J. Sutherland-Smith, Silvia Cappello, Magdalena Götz, Stephen P. Robertson, Jackie Thomas, Mary J Gray, Teresa Neuhann, Helen McNeill, Michael A. Simpson, Zandra A. Jenkins, Patrick Shannon, David Chitayat, Michael A. Black, Lionel Van Maldergem, Myriam Srour, Marielle Swinkells, Victoria Morrison, Fadi F. Hamdan, Tami Uster, Louise C. Wilson, Simona Lange, David Markie, Nadia Preitner, Nataliya Di Donato, Timothy R. Morgan, Petra J. G. Zwijnenburg, Sahar Mansour, Caroline Badouel, Melanie Einsiedler, Paulien A Terhal, Ruth Newbury-Ecob

Publikováno v: Cappello, S, Gray, M J, Badouel, C, de Lange, S, Einsiedler, M, Srour, M, Chitayat, D, Hamdan, F F, Jenkins, Z A, Morgan, T, Preitner, N, Uster, T, Thomas, J, Shannon, P, Morrison, V, Di Donato, N, van Maldergem, L, Neuhann, T, Newbury-Ecob, R, Swinkells, M, Terhal, P, Wilson, L C, Zwijnenburg, P J G, Sutherland-Smith, A J, Black, M A, Markie, D, Michaud, J L, Simpson, M A, Mansour, S, McNeill, H, Gotz, M & Robertson, S P 2013, ' Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development ', Nature Genetics, vol. 45, no. 11, pp. 1300-1308 . https://doi.org/10.1038/ng.2765
Nature Genetics, 45(11), 1300-1308. Nature Publishing Group

The regulated proliferation and differentiation of neural stem cells before the generation and migration of neurons in the cerebral cortex are central aspects of mammalian development. Periventricular neuronal heterotopia, a specific form of mislocal

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::854757fa5c2480e055342bb69e918d0a
https://pubmed.ncbi.nlm.nih.gov/24056717

Mutations in PYCR1 cause cutis laxa with progeroid features

Autor: Yun Li, Uwe Kornak, Amira Masri, Ingrid Hausser, Hülya Kayserili, Lihadh Al-Gazali, Nathalie Escande-Beillard, Stanley F. Nelson, Hanan Hamamy, Désirée Kunkel, Bruno Reversade, Peter Nürnberg, Ravi Savarirayan, Stephen P. Robertson, Annemarie Sommer, Hane Lee, John Nelson, Paola Ferrari, Mohammad Shboul, David Markie, Mareen Schmidt-von Kegler, Puay -Yoke Tham, Stefan Mundlos, Brian O'Connor, Markus Schuelke, Mary J Gray, Elisabeth Steichen, Deanna Guerra, David Sillence, Lionel Van Maldergem, Francesco Brancati, Arti Nanda, Serene C Chng, Birgit Budde, Giovanna Zambruno, Bernd Wollnik, Monzer Shahwan, Fawaz Alkazaleh, Bruno Dallapiccola, Andreas R. Janecke, Björn Fischer, Arthur Grix, Petra Seemann, Aikaterini Dimopoulou, Gudrun Nürnberg, Anna Rajab, Barry Merriman

Publikováno v: Nature genetics, 41(9), 1016-U88. Nature Publishing Group

Autosomal recessive cutis laxa (ARCL) describes a group of syndromal disorders that are often associated with a progeroid appearance, lax and wrinkled skin, osteopenia and mental retardation(1-3). Homozygosity mapping in several kindreds with ARCL id

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3a9fd908722ff8f7e006668ba3550117
http://hdl.handle.net/11697/122771

Dysregulation of FHL1 spliceforms due to an indel mutation produces an Emery-Dreifuss muscular dystrophy plus phenotype.

Autor: Tiffin, Heather, Jenkins, Zandra, Gray, Mary, Cameron-Christie, Sophia, Eaton, Jennifer, Aftimos, Salim, Markie, David, Robertson, Stephen

Publikováno v: Neurogenetics; May2013, Vol. 14 Issue 2, p113-121, 9p