Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Emma M. Wade"'
Autor:
Emma M. Wade, Elizabeth A. Goodin, Yongqiang Wang, Tim Morgan, Karen E. Callon, Maureen Watson, Philip B. Daniel, Jillian Cornish, Christopher A. McCulloch, Stephen P. Robertson
Publikováno v:
Bone Reports, Vol 18, Iss , Pp 101668- (2023)
Mutations in FLNA, which encodes the cytoskeletal protein FLNA, cause a spectrum of sclerosing skeletal dysplasias. Although many of these genetic variants are recurrent and cluster within the gene, the pathogenic mechanism that underpins the develop
Externí odkaz:
https://doaj.org/article/e1d3a0ee7c5846fd9b88d82042cd0969
Autor:
Alexander J. M. Blakes, Louise S. Bicknell, Karen M Knapp, Stephen P. Robertson, Andrew G. L. Douglas, Diana Baralle, Andrew Chase, Meremaihi R. Jackson, Wayne Lam, Susan M. White, Nora Shannon, Raoul Heller, Emma M. Wade, Emily Gaul
Publikováno v:
European Journal of Human Genetics
ABL1 is a proto-oncogene encoding a nonreceptor tyrosine kinase, best known in the somatic BCR-ABL fusion gene associated with chronic myeloid leukaemia. Recently, germline missense variants in ABL1 have been found to cause an autosomal dominant deve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::02061acd82366bd53687629c85263f51
https://doi.org/10.1038/s41431-020-00766-w
https://doi.org/10.1038/s41431-020-00766-w
Autor:
John D. Hulleman, Viet Q. Chau, Stephen P. Robertson, Steffi Daniel, Shyamtanu Datta, W. Matthew Petroll, Prabhavathi Maddineni, Marian Renwick, Emma M. Wade, Gulab Zode
Publikováno v:
J Mol Med (Berl)
Fibulin-3 (F3) is an extracellular matrix glycoprotein found in basement membranes across the body. An autosomal dominant R345W mutation in F3 causes a macular dystrophy resembling dry age-related macular degeneration (AMD), whereas genetic removal o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a73838fc90a98b25648e8e1e997e14c9
https://doi.org/10.1007/s00109-020-01974-z
https://doi.org/10.1007/s00109-020-01974-z
Autor:
Hayley Gibson, Rossana Sanchez Russo, Stephen P. Robertson, Timothy R. Morgan, Cara M. Skraban, Zandra A. Jenkins, Gregory Gimenez, Hui Peng, Emma M. Wade, Emma Bedoukian
Publikováno v:
American journal of medical genetics. Part AREFERENCES. 185(12)
Pathogenic variation in the X-linked gene FLNA causes a wide range of human developmental phenotypes. Loss-of-function is usually male embryonic-lethal, and most commonly results in a neuronal migration disorder in affected females. Gain-of-function
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a2d310436249956bafef4c0bd7f09143
https://pubmed.ncbi.nlm.nih.gov/34272929
https://pubmed.ncbi.nlm.nih.gov/34272929
Autor:
Stephen P. Robertson, Emma M. Wade, David Markie, Padmini Parthasarathy, Kalpana Gowrishankar, Kaya Fukushima, Timothy R. Morgan
Publikováno v:
Genes, Vol 12, Iss 528, p 528 (2021)
Genes
Genes
Spondylocarpotarsal synostosis syndrome (SCT) is characterized by vertebral fusions, a disproportionately short stature, and synostosis of carpal and tarsal bones. Pathogenic variants in FLNB, MYH3, and possibly in RFLNA, have been reported to be res
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ae6b98e9f7ddc1b072650acb7ccbfbc8
https://www.mdpi.com/2073-4425/12/4/528
https://www.mdpi.com/2073-4425/12/4/528
Autor:
Stephen P. Robertson, Tim Cundy, Jingyi Mi, Bernd Wollnik, Timothy R. Morgan, Padmini Parthasarathy, Emma M. Wade
Publikováno v:
European Journal of Human Genetics
Pulmonary acinar hypoplasia (PAH) and lacrimo-auriculo-dento-digital (LADD) syndrome have both been associated with loss-of-function variants in, or deletions of FGF10. Here we report a multi-generational family with seven members manifesting varying
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d4a1419bc0f83c464a5d4109ed34179a
https://pubmed.ncbi.nlm.nih.gov/33967277
https://pubmed.ncbi.nlm.nih.gov/33967277
Autor:
Stephen P. Robertson, Benjamin J. Halliday, David Markie, Emma M. Wade, Padmini Parthasarathy, Timothy R. Morgan, Małgorzata J.M. Nowaczyk, John Dean, Jingyi Mi
Publikováno v:
Genes, Vol 11, Iss 1439, p 1439 (2020)
Genes
Genes
Osteopathia striata with cranial sclerosis (OSCS) is an X-linked dominant condition characterised by metaphyseal striations, macrocephaly, cleft palate, and developmental delay in affected females. Males have a more severe phenotype with multi-organ
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4599e0685201d123cdd51cb6886ec26b
https://www.mdpi.com/2073-4425/11/12/1439
https://www.mdpi.com/2073-4425/11/12/1439
Autor:
Carmela Fusco, Marco Castori, Emma M. Wade, Tommaso Biagini, Angelantonio Notarangelo, Lucia Micale, Gianluigi Mazzoccoli, Annalisa Schirizzi, Marina Colombi, Vincenzo Giambra, Paola Grammatico, Grazia Nardella, Marco Ritelli, Tommaso Mazza, Silvia Morlino, Annalucia Carbone, Nicoletta Zoppi
Transforming growth factor beta-activated kinase 1 (TAK1) is a highly conserved kinase protein encoded by MAP3K7, and activated by multiple extracellular stimuli, growth factors and cytokines. Heterozygous variants in MAP3K7 cause the cardiospondyloc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0da4f9df3beb492ed0365ffe41cf6480
http://hdl.handle.net/11379/528277
http://hdl.handle.net/11379/528277
Publikováno v:
Human mutationREFERENCES. 41(5)
The X-linked filaminopathies represent a diverse group of clinical conditions, all caused by variants in the gene FLNA. FLNA encodes the widely expressed actin binding protein, filamin A that has multiple roles during embryonic development including
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::836cabdd78f2bf543fd6052a7981779c
https://pubmed.ncbi.nlm.nih.gov/32108395
https://pubmed.ncbi.nlm.nih.gov/32108395
Autor:
Meremaihi R. Jackson, Paul Tomlinson, David Markie, Konrad Klaus Richter, Ben Brockway, Benjamin J. Halliday, Sean G. W. Driver, Stephen P. Robertson, Emma M. Wade
Publikováno v:
Eur J Hum Genet
Connective tissue disorders are a spectrum of diseases that affect the integrity of tissues including skin, vasculature, and joints. They are often caused by variants that disrupt genes encoding components of extracellular matrix (ECM). The fibulin g
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d1104b7cac163d2bdbd5629fc963954
https://pubmed.ncbi.nlm.nih.gov/31792352
https://pubmed.ncbi.nlm.nih.gov/31792352