Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Sasha Jardine"'
Publikováno v:
Cellular and Molecular Gastroenterology and Hepatology, Vol 7, Iss 3, Pp 555-570 (2019)
The increasing incidence of pediatric inflammatory bowel disease, coupled with the efficiency of whole-exome sequencing, has led to the identification of tetratricopeptide repeat domain 7A (TTC7A) as a steward of intestinal health. TTC7A deficiency i
Externí odkaz:
https://doaj.org/article/e88f692839bc4b5ea1e21eacd6e3d2a5
Publikováno v:
Cellular and Molecular Gastroenterology and Hepatology
The increasing incidence of pediatric inflammatory bowel disease, coupled with the efficiency of whole-exome sequencing, has led to the identification of tetratricopeptide repeat domain 7A (TTC7A) as a steward of intestinal health. TTC7A deficiency i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9336b1aa70e2a9731dff3e19e45d2299
https://doi.org/10.1016/j.jcmgh.2018.12.001
https://doi.org/10.1016/j.jcmgh.2018.12.001
Autor:
Aleixo M. Muise, Iram Siddiqui, Jay R. Thiagarajah, Christoph Klein, Neil Warner, Roman A. Melnyk, Gabriella Leung, James J. Dowling, Jie Pan, Conghui Guo, Stephen Babcock, Neel Dhingani, Sasha Jardine, Daniel Kotlarz, Scott B. Snapper, Sierra Anderson
Background & Aims Mutations in the tetratricopeptide repeat domain 7A gene (TTC7A) cause intestinal epithelial and immune defects. Patients can become immune deficient and develop apoptotic enterocolitis, multiple intestinal atresia, and recurrent in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3654e812a3df4ec5c020d4c707629a3f
https://europepmc.org/articles/PMC7062591/
https://europepmc.org/articles/PMC7062591/
Autor:
Scott B. Snapper, Qi Li, Christoph Klein, Neil Warner, Neel Dhingani, Sasha Jardine, Claudia Gonzaga-Jauregui, Daniel Kotlarz, Aleixo M. Muise, Conghui Guo, Jie Pan, Gabriella Leung, Víctor Manuel Navas-López
Publikováno v:
Scientific Reports
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
Scientific Reports, Vol 10, Iss 1, Pp 1-11 (2020)
Very early onset inflammatory bowel disease (VEOIBD) denotes children with onset of IBD before six years of age. A number of monogenic disorders are associated with VEOIBD including tetratricopeptide repeat domain 7A (TTC7A) deficiency. TTC7A-deficie
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55264831473780af49e1cc632ddabc4d
https://pubmed.ncbi.nlm.nih.gov/33122718
https://pubmed.ncbi.nlm.nih.gov/33122718