Zobrazeno 1 - 10
of 103
pro vyhledávání: '"Ghada M H Abdel-Salam"'
Autor:
Ghada M. H. Abdel-Salam, Susanne Hellmuth, Elise Gradhand, Stephan Käseberg, Jennifer Winter, Ann-Sophie Pabst, Maha M. Eid, Holger Thiele, Peter Nürnberg, Birgit S. Budde, Mohammad Reza Toliat, Ines B. Brecht, Christopher Schroeder, Axel Gschwind, Stephan Ossowski, Friederike Häuser, Heidi Rossmann, Mohamed S. Abdel-Hamid, Ibrahim Hegazy, Ahmed G. Mohamed, Dominik T. Schneider, Aida Bertoli-Avella, Peter Bauer, Jillian N. Pearring, Rolph Pfundt, Alexander Hoischen, Christian Gilissen, Dennis Strand, Ulrich Zechner, Soha A. Tashkandi, Eissa A. Faqeih, Olaf Stemmann, Susanne Strand, Hanno J. Bolz
Publikováno v:
JCI Insight, Vol 8, Iss 22 (2023)
MAD2L1BP-encoded p31comet mediates Trip13-dependent disassembly of Mad2- and Rev7-containing complexes and, through this antagonism, promotes timely spindle assembly checkpoint (SAC) silencing, faithful chromosome segregation, insulin signaling, and
Externí odkaz:
https://doaj.org/article/c2f7dbb684e54ea28e6d06a849f00507
Autor:
Amal M. Mohamed, Alaa K. Kamel, Maha M. Eid, Ola M. Eid, Mona Mekkawy, Shymaa H. Hussein, Maha S. Zaki, Samira Esmail, Hanan H. Afifi, Ghada Y. El‐Kamah, Ghada A. Otaify, Heba Ahmed El‐Awady, Aya Elaidy, Mahmoud Y. Essa, Mona El‐Ruby, Engy A. Ashaat, Saida A. Hammad, Inas Mazen, Ghada M. H. Abdel‐Salam, Mona Aglan, Samia Temtamy
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
Abstract Background This study aimed to delineate the clinical phenotype of patients with 9p deletions, pinpoint the chromosomal breakpoints, and identify the critical region for trigonocephaly, which is a frequent finding in 9p terminal deletion. Me
Externí odkaz:
https://doaj.org/article/2bfe665e28c74ca3b3ab3b493e122b7b
Autor:
Sateesh Maddirevula, Hanan E. Shamseldin, Amy Sirr, Lama AlAbdi, Russell S. Lo, Nour Ewida, Mashael Al-Qahtani, Mais Hashem, Firdous Abdulwahab, Omar Aboyousef, Namik Kaya, Dorota Monies, May H. Salem, Naffaa Al Harbi, Hesham M. Aldhalaan, Hamad Alzaidan, Hadeel M. Almanea, Abrar K. Alsalamah, Fuad Al Mutairi, Samira Ismail, Ghada M. H. Abdel-Salam, Amal Alhashem, Ali Asery, Eissa Faqeih, Amal AlQassmi, Waleed Al-Hamoudi, Talal Algoufi, Mohammad Shagrani, Aimée M. Dudley, Fowzan S. Alkuraya
Publikováno v:
Frontiers in Genetics, Vol 11 (2020)
There is a growing interest in standardizing gene-disease associations for the purpose of facilitating the proper classification of variants in the context of Mendelian diseases. One key line of evidence is the independent observation of pathogenic v
Externí odkaz:
https://doaj.org/article/8026d6a81f114abd81353e1d7d0b55e7
Publikováno v:
Clinical Genetics.
Autor:
Ghada A. Otaify, Rasha M. Elhossini, Sherif F. Abdel‐Ghafar, Inas M. Sayed, Ghada M. H. Abdel‐Salam, Mona S. Aglan, Mohamed S. Abdel‐Hamid
Publikováno v:
American Journal of Medical Genetics Part A.
Autor:
Ghada M. H. Abdel-Salam, Hanan H. Afifi, Mohamed S. Abdel-Hamid, Nermeen E. B. Ahmed, Mohamed B. Taher, Ghada El-Kamah, Holger Thiele, Peter N. Nürnberg, Hanno J. Bolz
Publikováno v:
Journal of Human Genetics.
Autor:
Shalini N. Jhangiani, Ziad Khan, Richard A. Gibbs, Mohamed Abdelhamid, Inas S. M. Sayed, James R. Lupski, Dana Marafi, Jennifer E. Posey, Ghada M H Abdel-Salam, Haowei Du, Ruizhi Duan
Publikováno v:
American Journal of Medical Genetics Part A. 188:648-657
SMG8 (MIM *617315) is a regulatory subunit involved in nonsense-mediated mRNA decay (NMD), a cellular protective pathway that regulates mRNA transcription, transcript stability, and degrades transcripts containing premature stop codons. SMG8 binds SM
Autor:
Christian Casar, Maja Hempel, Frederike L. Harms, Pauline E. Schneeberger, Kerstin Kutsche, Malik Alawi, Maha S. Zaki, Minyue Qi, Xiaoxu Yang, Valentina Stanley, Leonie von Elsner, Ghada M H Abdel-Salam, Joseph G. Gleeson, Guoliang Chai, Florian Arndt
Publikováno v:
Brain
Brain : a journal of neurology, vol 145, iss 4
Brain : a journal of neurology, vol 145, iss 4
The major spliceosome mediates pre-mRNA splicing by recognizing the highly conserved sequences at the 5′ and 3′ splice sites and the branch point. More than 150 proteins participate in the splicing process and are organized in the spliceosomal A,
Autor:
Sahar Sabry, Sara H. El‐Dessouky, Sherif F. Abdel‐Ghafar, Ghada M H Abdel-Salam, Mohamed Abdelhamid
Publikováno v:
neurogenetics. 22:287-295
Fetal brain arrest is an extremely rare genetic disorder that was described in few patients and encompasses very unique findings of underdeveloped cerebral hemispheres in association with collapsed skull bones. Based on the recurrence among sibs, an
Autor:
Judith J.M. Jans, Jeffrey Ding, Rudy Fabunan, Khalid Ibrahim, Shereen G. Ghosh, Valentina Stanley, Tawfeg Ben-Omran, Joseph G. Gleeson, David Murphy, Sangmoon Lee, Nils Wiedemann, Mohit Jain, Ehsan Ghayoor Karimiani, Aakash Patel, Shima Imannezhad, Elizabeth R. Waters, Javeria Raza Alvi, Maha S. Zaki, Daqiang Pan, Mehran Beiraghi Toosi, Philipp Lübbert, Bernd Kammerer, Farah Ashrafzadeh, Jennifer McEvoy-Venneri, Ghada M H Abdel-Salam, Nanda M. Verhoeven-Duif, Tipu Sultan, Danica Ross, Reza Maroofian, Guoliang Chai
Publikováno v:
Genetics in Medicine. 23:524-533
Purpose Dioxygenases are oxidoreductase enzymes with roles in metabolic pathways necessary for aerobic life. 4-hydroxyphenylpyruvate dioxygenase-like protein (HPDL), encoded by HPDL, is an orphan paralogue of 4-hydroxyphenylpyruvate dioxygenase (HPD)