Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Desiree Cloosterman"'
Autor:
Tessa Mattiske, May H Tan, Oliver Dearsley, Desiree Cloosterman, Charles S Hii, Jozef Gécz, Cheryl Shoubridge
Publikováno v:
PLoS ONE, Vol 13, Iss 11, p e0206914 (2018)
Aristaless-related homeobox (ARX) gene encodes a paired-type homeodomain transcription factor with critical roles in development. Here we identify that ARX protein is phosphorylated. Using mass spectrometry and in vitro kinase assays we identify phos
Externí odkaz:
https://doaj.org/article/afd83dd945e8415ea962bbcf69f12935
Autor:
Charles S. Hii, Tessa Mattiske, Jozef Gecz, Cheryl Shoubridge, Oliver Dearsley, May H. Tan, Desiree Cloosterman
Publikováno v:
PLoS ONE
PLoS ONE, Vol 13, Iss 11, p e0206914 (2018)
PLoS ONE, Vol 13, Iss 11, p e0206914 (2018)
Aristaless-related homeobox (ARX) gene encodes a paired-type homeodomain transcription factor with critical roles in development. Here we identify that ARX protein is phosphorylated. Using mass spectrometry and in vitro kinase assays we identify phos
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3011ae1f3d1c6d949a96f550fd18a6ae
https://pubmed.ncbi.nlm.nih.gov/30419043
https://pubmed.ncbi.nlm.nih.gov/30419043
Autor:
Rose White, Juliette Nectoux, Desiree Cloosterman, Artur Darmanian, Tod Fullston, Jozef Gecz, Gladys Ho, Ingrid E. Scheffer, Thierry Bienvenu, John Christodoulou, Simone C. Yendle, Timothy C. Cox, Swetlana Schmidt, Bruce Bennetts, Carolyn Ellaway, Alexandra E. Fischer, Veena Kalra, XingZhang Tong
Publikováno v:
Twin research and human genetics : the official journal of the International Society for Twin Studies. 13(2)
Rett syndrome (RTT) is a severe neurodevelopmental disorder affecting females almost exclusively and is characterized by a wide spectrum of clinical manifestations. Mutations in the X-linked methyl-CpG-binding protein 2 (MECP2) gene have been found i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0aa1c445623e901a5370f20ff8395a22
https://pubmed.ncbi.nlm.nih.gov/20397747
https://pubmed.ncbi.nlm.nih.gov/20397747
Autor:
Gladys Ho, Desiree Cloosterman, Hayley Archer, Roksana Armani, Angus John Clarke, Christiane Zweier, John Christodoulou, Nan Yang, Sarah L. Williamson, Pradeep Vasudevan
Publikováno v:
American journal of medical genetics. Part A. (4)
The systematic screening of Rett syndrome (RTT) patients for pathogenetic sequence variations has focused on three genes that have been associated with RTT or related clinical phenotypes, namely MECP2, CDKL5, and FOXG1. More recently, it has been sug
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70163aa82232eed125c3bb45eedabfcf
https://pubmed.ncbi.nlm.nih.gov/22383159
https://pubmed.ncbi.nlm.nih.gov/22383159
Autor:
David Coman, Grazia M.S. Mancini, George McGillivray, Jozef Gecz, Tod Fullston, Desiree Cloosterman, Cheryl Shoubridge, Tjitske Kleefstra, May Huey Tan
Publikováno v:
Pathogenetics, 3, 1-1
PathoGenetics, 3
PathoGenetics
Pathogenetics, 3, pp. 1-1
PathoGenetics, 3
PathoGenetics
Pathogenetics, 3, pp. 1-1
Contains fulltext : 89419.pdf (Publisher’s version ) (Open Access) BACKGROUND: Aristaless related homeobox (ARX) is a paired-type homeobox gene. ARX function is frequently affected by naturally occurring mutations. Nonsense mutations, polyalanine t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cc07c4db013553c53abaa105e0c5e104
https://hdl.handle.net/1765/28674
https://hdl.handle.net/1765/28674
Autor:
Jennifer A. Donald, Ami Bebbington, Bruce Bennetts, Sarah L. Williamson, Kirsten Reuter, Desiree Cloosterman, Simon Williams, Robert L. Smith, Simon A. Hardwick, Helen Leonard, John Christodoulou, Katrina Slater, Vidya Vasudevan
Publikováno v:
European journal of human genetics : EJHG. 15(12)
Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations in up to 95% of classical Rett syndrome (RTT) patients. This high rate of mutation detection can partly be attributed
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5685c965f3b3d89e9632da2bc49db9d
https://pubmed.ncbi.nlm.nih.gov/17712354
https://pubmed.ncbi.nlm.nih.gov/17712354
Autor:
Douglas A. Brooks, Jozef Gecz, Emma Parkinson-Lawerence, Desiree Cloosterman, Cheryl Shoubridge
The Aristaless-related homeobox gene (ARX) is one of the major genes causing X-linked mental retardation. We have been interested in the pathogenic mechanism of expanded polyalanine tract mutations in ARX. We showed that the c.304ins(GCG)7 mutation c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1c7b10e1c3747d46d0214b5350860140
https://hdl.handle.net/1959.8/48540
https://hdl.handle.net/1959.8/48540
Publikováno v:
Current opinion in geneticsdevelopment. 16(3)
The Aristaless-related homeobox gene, ARX, is an important transcription factor with a crucial role in forebrain, pancreas and testes development. At least fifty-nine mutations have been described in the ARX gene in seven X-chromosome linked disorder
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8b0d89e124ecdf1b8cc7759503462b8
https://pubmed.ncbi.nlm.nih.gov/16650978
https://pubmed.ncbi.nlm.nih.gov/16650978