Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Afaf Alsubhi"'
Autor:
Afaf Alsubhi, Manar Aldarwish, Pankaj B. Agrawal, Saeed M. Al Tala, Osama Eldadah, Abdulla A. Alghamdi, Amal Silmi, Mohammed Almannai
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101027- (2024)
FLNC gene encodes for Filamin-C (FLNC) protein, a sacromeric protein with important structural and signaling functions in the myocyte. Pathogenic dominant variants in FLNC were initially linked to myofibrillar myopathy and over time, evidence showed
Externí odkaz:
https://doaj.org/article/9d9aa88a1b4445f2b0924b057a3dd0af
Autor:
Hamdi Mbarek, Afaf Alsubhi, Ricardo Moreno Traspas, Nima Rezaei, Chao L, Lena Ho, Fatima Megala Nathan, Peter Bauer, Sze Hwee Seet, Sebastian Maurer-Stroh, Teoh Ts, Davut Pehlivan, Myriam Chaabouni, Jean-Laurent Casanova, Aida M. Bertoli-Avella, Danai Georgiadou, Simin Seyedpour, Robert J. Isfort, Shan Z, Ece Cepni, Wafaa Eyaid, Kortessa Sotiropoulou, Bruno Reversade, Chun Kiat Lee, Candice Lainé, Michael Maier, Wong Hh, Guoliang Chai, Ajay S. Mathuru, Danielle Sng, Hülya Kayserili, Fernanda L. Sirota, Choo Sc, Lupski, Tadahiro M, Nur Ain Ali, Ghamar Taj Khotaei, Franziska Paul, Frederic Bard, Xue S, Charles C. Bascom, Sedat Işıkay, Maha S. Zaki, Joseph G. Gleeson, Chia Cy, Bertrand Boisson, Loh Ayt
Human C2orf69 is an evolutionary-conserved gene whose function is unknown. Here, we report 9 children from 5 unrelated families with a fatal syndrome consisting of severe auto-inflammation, progredient leukoencephalopathy with recurrent seizures that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::64314110460941cfed915d10fbc86f96
https://doi.org/10.1101/2021.03.31.21253863
https://doi.org/10.1101/2021.03.31.21253863
Autor:
Fatma Gumruk, Guoliang Chai, Bertrand Boisson, Natalia Ordonez, Ricardo Moreno Traspas, Maha S. Zaki, Stephanie Efthymiou, Dana Hasbini, Sze Hwee Seet, Thanh Thao Nguyen Ly, Jean-Laurent Casanova, Tadahiro Mitani, Michael Maier, Danielle Sng, Pelin Ozlem Simsek-Kiper, Davut Pehlivan, Hülya Kayserili, James R. Lupski, Nese Yarali, Kornelia Tripolszki, Abigail Loh, Hui Hui Wong, Robert J. Isfort, Joshua J. Coon, Sedat Işıkay, Frederic Bard, Ece Cepni, Evgenia Shishkova, Charles C. Bascom, Chao Liang, Afaf Alsubhi, Bruno Reversade, Nurten A. Akarsu, Tze Shin Teoh, Jarred W. Rensvold, Nima Rezaei, Soh Sok Keng, David J. Pagliarini, Serdar Ceylaner, Naser Gilani, Lena Ho, Fatima Megala Nathan, Siew Chin Choo, Hamdi Mbarek, Crystal Y. Chia, Wafaa Eyaid, Ozlem Arman-Bilir, Reza Maroofian, Simin Seyedpour, Kortessa Sotiropoulou, Joseph G. Gleeson, Peter Bauer, Arda Cetinkaya, Beril Talim, Fernanda L. Sirota, Sule Unal, Ghamar Taj Khotaei, Sebastian Maurer-Stroh, Franziska Paul, Shan Zhang, Elanur Yılmaz, Ayse Gurel, Shifeng Xue, Henry Houlden, Ajay S. Mathuru, Myriam Chaabouni, Aida M. Bertoli-Avella, Candice Lainé, Cheryl Yi-Pin Lee, Danai Georgiadou, Nur Ain Ali, Deniz Uğurlu Çi̇men
Publikováno v:
American journal of human genetics, 108(7), 1301-1317. Cell Press
Am J Hum Genet
Am J Hum Genet
Human C2orf69 is an evolutionarily conserved gene whose function is unknown. Here, we report eight unrelated families from which 20 children presented with a fatal syndrome consisting of severe autoinflammation and progredient leukoencephalopathy wit
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c13d560c7d64faf2e637e92da4ba67e3
https://doi.org/10.1016/j.ajhg.2021.06.009
https://doi.org/10.1016/j.ajhg.2021.06.009