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DNA ligase IV mutations confer shorter lifespan and increased sensitivity to nutrient stress in Drosophila melanogaster

Autor: Jennifer Curtiss, Surya Banerjee, Amanda K. Ashley, Rashmi R. Joshi

Publikováno v: Journal of Applied Genetics

The nonhomologous end-joining pathway is a primary DNA double-strand break repair pathway in eukaryotes. DNA ligase IV (Lig4) catalyzes the final step of DNA end ligation in this pathway. Partial loss of Lig4 in mammals causes Lig4 syndrome, while co

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b295cb9819e0831418198b740d42d8c0
https://doi.org/10.1007/s13353-021-00637-0

LIG4 syndrome: clinical and molecular characterization in a Chinese cohort

Autor: Xiaochuan Wang, Danru Liu, Jinqiao Sun, Wenjie Wang, Wenjing Ying, Jia Hou, Bijun Sun, Qinhua Zhou, Ying Wang, Qiuyu Chen, Xiaoying Hui

Publikováno v: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-9 (2020)
Orphanet Journal of Rare Diseases

Background DNA Ligase IV (LIG4) syndrome is a rare disease with few reports to date. Patients suffer from a broad spectrum of clinical features, including microcephaly, growth retardation, developmental delay, dysmorphic facial features, combined imm

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d56241d15af51d5c1b3ed9bffe76d5b9
http://link.springer.com/article/10.1186/s13023-020-01411-x

Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations

Autor: Jill E. Urquhart, Jenny Higgs, William G. Newman, Elizabeth A Martindale, Glenda M. Beaman, Bronwyn Kerr, Gauri Batra, Rajesh Madhu, Adrian S. Woolf, Naz Khan, Jill Clayton-Smith, Tracy A Briggs, Kate Chandler, James O'Sullivan

Publikováno v: Madhu, R, Beaman, G M, Chandler, K E, O'Sullivan, J, Urquhart, J E, Khan, N, Martindale, E, Briggs, T A, Clayton-Smith, J, Higgs, J, Batra, G, Kerr, B, Woolf, A S & Newman, W G 2020, ' Ligase IV syndrome can present with microcephaly and radial ray anomalies similar to Fanconi anaemia plus fatal kidney malformations ', European journal of medical genetics, vol. 63, no. 9, 103974 . https://doi.org/10.1016/j.ejmg.2020.103974
European Journal of Medical Genetics

Ligase IV (LIG4) syndrome is a rare disorder of DNA damage repair caused by biallelic, pathogenic variants in LIG4. This is a phenotypically heterogeneous condition with clinical presentation varying from lymphoreticular malignancies in developmental

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85544d79fa1a40cee580ec40c14945c4
http://www.scopus.com/inward/record.url?scp=85086659359&partnerID=8YFLogxK

Human Mutations Affecting Reprogramming into Induced Pluripotent Stem Cells

Autor: Yohei Hayashi

Publikováno v: AIMS Cell and Tissue Engineering, Vol 1, Iss 1, Pp 31-46 (2017)

The development of induced pluripotent stem cells (iPSCs) provides unprecedented opportunities for life sciences, drug discovery, and regenerative medicine. iPSCs have been generated from somatic cells in many patients with various genetic diseases c

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::502170ee48cea29d8450f7c7ccc9c580
http://www.aimspress.com/CTE/article/1475/fulltext.html