Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Hans vanBokhoven"'
Autor:
Rauan Kaiyrzhanov, Clarissa Rocca, Mohnish Suri, Sughra Gulieva, Maha S. Zaki, Noa Z. Henig, Karine Siquier, Ulviyya Guliyeva, Samir M. Mounir, Daphna Marom, Aynur Allahverdiyeva, Hisham Megahed, Hans vanBokhoven, Vincent Cantagrel, Aboulfazl Rad, Alemeh Pourkeramti, Boshra Dehghani, Diane D. Shao, Keren Markus‐Bustani, Efrat Sofrin‐Drucker, Naama Orenstein, Kamran Salayev, Filippo Arrigoni, Henry Houlden, Reza Maroofian
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 9, Iss 7, Pp 1080-1089 (2022)
Abstract The endoplasmic reticulum membrane protein complex subunit 10 (EMC10) is a highly conserved protein responsible for the post‐translational insertion of tail‐anchored membrane proteins into the endoplasmic reticulum in a defined topology.
Externí odkaz:
https://doaj.org/article/e325a36924f6490ca000078333d8a8e5
Autor:
Daniel L. Polla, Harriet R. Saunders, Bert B. A. deVries, Hans vanBokhoven, Arjan P. M. deBrouwer
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 7, Iss 10, Pp n/a-n/a (2019)
Abstract Background Eight different deletions and point variants of the X‐chromosomal gene CNKSR2 have been reported in families with males presenting intellectual disability (ID) and epilepsy. Obligate carrier females with a frameshift variant in
Externí odkaz:
https://doaj.org/article/5ee9dcf0681b434dab3ff066e6565c4e
Autor:
Derek Ruths, Maranke I. Koster, Virginia P. Sybert, Vivian A. Lombillo, Dennis R. Roop, Edward A. Ratovitski, Caterina Missero, Laura D. Attardi, Frank McKeon, Suzanne E. Clements, Meena R. Julapalli, Alanna F. Bree, Hans vanBokhoven, Elaine C. Siegfried, Mary Fete
Publikováno v:
American Journal of Medical Genetics Part A. :1885-1893
Ankyloblepharon-ectodermal defects-cleft lip/palate (AEC) syndrome (Hay-Wells syndrome, MIM #106220) is a rare autosomal dominant ectodermal dysplasia syndrome. It is due to mutations in the TP63 gene, known to be a regulatory gene with many downstre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0aba00720b8acacafd7e7ad964d9cb0
https://doi.org/10.1002/ajmg.a.32761
https://doi.org/10.1002/ajmg.a.32761
Publikováno v:
Journal of Investigative Dermatology, 131, 6, pp. 1196-207
Journal of Investigative Dermatology, 131, 1196-207
Journal of Investigative Dermatology, 131, 1196-207
The transcription factor p63 is essential for the formation of the epidermis and other stratifying epithelia. This is clearly demonstrated by the severe abnormality of p63-deficient mice and by the development of certain types of ectodermal dysplasia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ebb35cdf80222adc7a7496f1a394a85c
https://hdl.handle.net/2066/97552
https://hdl.handle.net/2066/97552
