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pro vyhledávání: '"Maat-Kievit A"'
Akademický článek
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Publikováno v:
Clinical Medical Reviews and Reports. 3:01-07
MED12 is a member of large Mediator complex; has a very crucial and central role in RNA polymerase II transcription; regulating cell signals involved in growth, development and differentiation. Different MED12 mutations may have different clinical pr
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6b71ec81eae85769098f77a9691006b9
https://doi.org/10.31579/2690-8794/088
https://doi.org/10.31579/2690-8794/088
Akademický článek
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Publikováno v:
Congenital anomaliesREFERENCES. 60(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a05fa8924dd051d004203ac6ce6b6dae
https://pubmed.ncbi.nlm.nih.gov/31322785
https://pubmed.ncbi.nlm.nih.gov/31322785
Clinical Variability in Familial X-Linked Ohdo Syndrome–Maat-Kievit-Brunner Type with MED12 Mutation
Autor:
Venkatraman Bhat, Katta M. Girisha, Puneeth H. Somashekar, Anju Shukla, Satish Siddaiah, Siddaramappa J. Patil, Pooja N. Rao
Ohdo syndrome–Maat-Kievit-Brunner (OSMKB) type is an X-linked recessive disorder, a subtype of blepharophimosis-intellectual disability syndromes caused by mutations in the mediator complex subunit 12 (MED12) gene. Here we report a familial OSMKB t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::28b43d59ec442077ea1283e6ee5ebd46
https://europepmc.org/articles/PMC5548526/
https://europepmc.org/articles/PMC5548526/
Clinical Variability in Familial X-Linked Ohdo Syndrome–Maat-Kievit-Brunner Type with MED12 Mutation
Autor:
Patil, Siddaramappa J., Somashekar, Puneeth H., Shukla, Anju, Siddaiah, Satish, Bhat, Venkatraman, Girisha, Katta M., Rao, Pooja N.
Publikováno v:
Journal of Pediatric Genetics; September 2017, Vol. 6 Issue: 3 p198-204, 7p
Autor:
Maas, Saskia M., Shaw, Adam C., Bikker, Hennie, Lüdecke, Hermann-Josef, van der Tuin, Karin, Badura-Stronka, Magdalena, Belligni, Elga, Biamino, Elisa, Bonati, Maria Teresa, Carvalho, Daniel R., Cobben, JanMaarten, de Man, Stella A., Den Hollander, Nicolette S., Di Donato, Nataliya, Garavelli, Livia, Grønborg, Sabine, Herkert, Johanna C., Hoogeboom, A. Jeannette M., Jamsheer, Aleksander, Latos-Bielenska, Anna, Maat-Kievit, Anneke, Magnani, Cinzia, Marcelis, Carlo, Mathijssen, Inge B., Nielsen, Maartje, Otten, Ellen, Ousager, Lilian B., Pilch, Jacek, Plomp, Astrid, Poke, Gemma, Poluha, Anna, Posmyk, Renata, Rieubland, Claudine, Silengo, Margharita, Simon, Marleen, Steichen, Elisabeth, Stumpel, Connie, Szakszon, Katalin, Polonkai, Edit, van den Ende, Jenneke, van der Steen, Antony, van Essen, Ton, van Haeringen, Arie, van Hagen, Johanna M., Verheij, Joke B.G.M., Mannens, Marcel M., Hennekam, Raoul C.
Publikováno v:
In European Journal of Medical Genetics May 2015 58(5):279-292
Publikováno v:
European Journal of Epidemiology, 2008 Jan 01. 23(4), 281-287.
Externí odkaz:
https://www.jstor.org/stable/40284046
Analysis of TSC1 truncations defines regions involved in TSC1 stability, aggregation and interaction
Autor:
Hoogeveen-Westerveld, Marianne, Exalto, Carla, Maat-Kievit, Anneke, van den Ouweland, Ans, Halley, Dicky, Nellist, Mark
Publikováno v:
In BBA - Molecular Basis of Disease September 2010 1802(9):774-781
Autor:
Arthur Jorge Santiago Lima, Marianne Hoogeveen-Westerveld, Akio Nakashima, Anneke Maat-Kievit, Ans van den Ouweland, Dicky Halley, Ushio Kikkawa, Mark Nellist
Publikováno v:
PLoS ONE, Vol 9, Iss 4, p e93940 (2014)
The TSC1-TSC2-TBC1D7 complex is an important negative regulator of the mechanistic target of rapamycin complex 1 that controls cell growth in response to environmental cues. Inactivating TSC1 and TSC2 mutations cause tuberous sclerosis complex (TSC),
Externí odkaz:
https://doaj.org/article/520b61817c1c4bdc812669da3bee6825