Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Michael G. Mfarej"'
Autor:
Michael G Mfarej, Robert V Skibbens
Publikováno v:
PLoS Genetics, Vol 16, Iss 12, p e1009219 (2020)
Roberts syndrome (RBS) is a rare developmental disorder that can include craniofacial abnormalities, limb malformations, missing digits, intellectual disabilities, stillbirth, and early mortality. The genetic basis for RBS is linked to autosomal rece
Externí odkaz:
https://doaj.org/article/32021204be77411b968e4dffeff8010b
Autor:
Michael G Mfarej, Robert V Skibbens
Publikováno v:
PLoS ONE, Vol 15, Iss 12, p e0242968 (2020)
Yeast Eco1 (ESCO2 in humans) acetyltransferase converts chromatin-bound cohesins to a DNA tethering state, thereby establishing sister chromatid cohesion. Eco1 establishes cohesion during DNA replication, after which Eco1 is targeted for degradation
Externí odkaz:
https://doaj.org/article/0c61272860fa4b80b014062cf83dac72
Autor:
Michael G. Mfarej, Caitlin A. Hyland, Annie C. Sanchez, Matthias M. Falk, M. Kathryn Iovine, Robert V. Skibbens
Publikováno v:
Molecular Biology of the Cell. 34
Cohesins are ATPase complexes that play central roles in cellular processes such as chromosome division, DNA repair, and gene expression. Cohesinopathies arise from mutations in cohesin proteins or cohesin complex regulators and encompass a family of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::be70275ef69369fcbb121afae503636f
https://doi.org/10.1091/mbc.e22-12-0557
https://doi.org/10.1091/mbc.e22-12-0557
Autor:
Michael G Mfarej, Robert V Skibbens
Publikováno v:
G3 Genes|Genomes|Genetics. 12
Roberts syndrome (RBS) is a multispectrum developmental disorder characterized by severe limb, craniofacial, and organ abnormalities and often intellectual disabilities. The genetic basis of RBS is rooted in loss-of-function mutations in the essentia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7ed0d6ff15eeb3c2e528c06f0a12fee7
https://doi.org/10.1093/g3journal/jkab426
https://doi.org/10.1093/g3journal/jkab426
Autor:
Hiotis G, Michael G. Mfarej, Caitlin Hyland, Novak N, Lancaster S, Kathryn Iovine M, Matthias M. Falk
Gap junction proteins, termed connexins (Cx), mediate direct cell-to-cell communication by forming channels that physically couple cells, thereby linking their cytoplasm, permitting exchange of molecules, ions, and electrical impulses. The most ubiqu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2ed208d2c2a052e730026852ddc2ec6c
https://doi.org/10.1101/2021.03.07.434329
https://doi.org/10.1101/2021.03.07.434329
Autor:
Robert V. Skibbens, Michael G. Mfarej
Publikováno v:
PLoS Genetics
PLoS Genetics, Vol 16, Iss 12, p e1009219 (2020)
PLoS Genetics, Vol 16, Iss 12, p e1009219 (2020)
Roberts syndrome (RBS) is a rare developmental disorder that can include craniofacial abnormalities, limb malformations, missing digits, intellectual disabilities, stillbirth, and early mortality. The genetic basis for RBS is linked to autosomal rece
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c59fbdf0e9ee40299f46e571c9d4ec6f
http://europepmc.org/articles/PMC7774850
http://europepmc.org/articles/PMC7774850