Zobrazeno 1 - 2
of 2
pro vyhledávání: '"Nukte Goc"'
Autor:
Ketu Mishra-Gorur, Tanyeri Barak, Leon D. Kaulen, Octavian Henegariu, Sheng Chih Jin, Stephanie Marie Aguilera, Ezgi Yalbir, Gizem Goles, Sayoko Nishimura, Danielle Miyagishima, Lydia Djenoune, Selin Altinok, Devendra K. Rai, Stephen Viviano, Andrew Prendergast, Cynthia Zerillo, Kent Ozcan, Burcin Baran, Leman Sencar, Nukte Goc, Yanki Yarman, A. Gulhan Ercan-Sencicek, Kaya Bilguvar, Richard P. Lifton, Jennifer Moliterno, Angeliki Louvi, Shiaulou Yuan, Engin Deniz, Martina Brueckner, Murat Gunel
Publikováno v:
Proceedings of the National Academy of Sciences. 120
While somatic variants of TRAF7 (Tumor necrosis factor receptor-associated factor 7) underlie anterior skull-base meningiomas, here we report the inherited mutations of TRAF7 that cause congenital heart defects. We show that TRAF7 mutants operate in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7fac2abf368895a63d99519d0d8f6827
https://doi.org/10.1073/pnas.2214997120
https://doi.org/10.1073/pnas.2214997120
Autor:
Murat Gunel, Cihan Meral, Fatih Toy, Yanki Yarman, A. Gulhan Ercan-Sencicek, Nukte Goc, Hande Kaymakçalan
Publikováno v:
American journal of medical genetics. Part A. 176(2)
We here describe novel compound heterozygous missense variants, NM_133443:c.[400C>T] and NM_133443:[1435G>A], in the glutamic-pyruvic transaminase 2 (GPT2) gene in a large consanguineous family with two affected siblings diagnosed with microcephaly i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64770653ff2dc616c6a55734652bc2a8
https://pubmed.ncbi.nlm.nih.gov/29226631
https://pubmed.ncbi.nlm.nih.gov/29226631