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of 50
pro vyhledávání: '"Naif A.M. Almontashiri"'
Autor:
Naif A.M. Almontashiri, PhD
Publikováno v:
Journal of Taibah University Medical Sciences, Vol 12, Iss 3, Pp 199-204 (2017)
يعتبرالموضع الخطر للقطعة رقم پ21.3 على كروموسوم رقم ٩ أول موضع يوصف لارتباطه بزيادة خطر الإصابة بالحوادث ذات الصلة بأمراض الشرايين التاجي
Externí odkaz:
https://doaj.org/article/ea164af7d4244e4fb9b965c0d4a63e92
Autor:
Naif A.M. Almontashiri, Hsiao-Huei Chen, Ryan J. Mailloux, Takashi Tatsuta, Allen C.T. Teng, Ahmad B. Mahmoud, Tiffany Ho, Nicolas A.S. Stewart, Peter Rippstein, Mary Ellen Harper, Robert Roberts, Christina Willenborg, Jeanette Erdmann, Annalisa Pastore, Heidi M. McBride, Thomas Langer, Alexandre F.R. Stewart
Publikováno v:
Cell Reports, Vol 7, Iss 3, Pp 834-847 (2014)
Mitochondrial production of reactive oxygen species (ROS) affects many processes in health and disease. SPG7 assembles with AFG3L2 into the mAAA protease at the inner membrane of mitochondria, degrades damaged proteins, and regulates the synthesis of
Externí odkaz:
https://doaj.org/article/aebe476dd1c04886a50974f3c1065d37
Autor:
Ian J. Wilson, Mohammed S. Al Riyami, Khawla A Rahim, Eric Olinger, Elisa Molinari, Laura Powell, Miguel Barroso-Gil, Abdulrahman Al-Hussaini, Naif A.M. Almontashiri, Shirlee Shril, John A. Sayer, Mohamed H Al-Hamed, Friedhelm Hildebrandt, Intisar Al Alawi, Colin G. Miles, Isa Al Salmi, Eissa Ali Faqeih
Publikováno v:
Hum Mutat
Half of patients with a ciliopathy syndrome remain unsolved after initial analysis of whole exome sequencing (WES) data, highlighting the need for improved variant filtering and annotation. By candidate gene curation of WES data, combined with homozy
Autor:
Monis Bilal Shamsi, Ali Alasmari, Mohamed Saleh, Makki Almuntashri, Manar Samman, Fatima Al-Fadhli, Eissa Faqeih, Naif A.M. Almontashiri, Roy W A Peake, Essa Alharby
Publikováno v:
Journal of Human Genetics. 66:689-695
Heterozygous pathogenic variants in SLC12A2 are reported in patients with nonsyndromic hearing loss. Recently, homozygous loss-of-function variants have been reported in two patients with syndromic intellectual disability, with or without hearing los
Clinical, molecular, and biochemical delineation of asparagine synthetase deficiency in Saudi cohort
Autor:
Mohammed Almannai, Fowzan S. Alkuraya, Ali Al-Otaibi, Naif A.M. Almontashiri, Lamya Jad, Essa Alharby, Makki Almuntashri, Dimah Zaytuni, Abdullah M Alnawfal, Mohammed A. Saleh, Majid Alfadhel, Manar A. Samman, Mais Hashem, Ghadeer Alharbi, Ali H Alwadei, Eissa Faqeih, Seham Alameer, Roy W A Peake, Annalisa Pastore, Ali Alasmari, Adel A H Mahmoud, Wafaa Eyaid, Fahad Al-Hakami
Publikováno v:
Genetics in Medicine. 22:2071-2080
Asparagine synthetase deficiency (ASNSD) is a rare neurometabolic disease. Patients may not demonstrate low asparagine levels, which highlights the advantage of molecular over biochemical testing in the initial work-up of ASNSD. We aimed to further d
Publikováno v:
Clinical Chemistry. 67:912-914
Autor:
Christopher C. Griffith, Martin Zenker, William E. Allen, Ganka Douglas, Denise Howting, Eissa Faqeih, Roger B. Sher, Davut Pehlivan, Nigel G. Laing, Henry Houlden, Jennifer E. Stauffer, Naif A.M. Almontashiri, Hamid Galehdari, Paige B. Martin, Ryo Yonashiro, Rajesh Kumar, Tamar Harel, Yu Kigoshi-Tansho, Gregory A. Cox, James R. Lupski, Reza Maroofian, Monique M. Ryan, Gianina Ravenscroft, Neda Mazaheri, Jennifer E. Posey, Tina Müller, Claudio A. P. Joazeiro, Denny Schanze
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-12 (2020)
Nature Communications
Nature Communications
A hallmark of neurodegeneration is defective protein quality control. The E3 ligase Listerin (LTN1/Ltn1) acts in a specialized protein quality control pathway—Ribosome-associated Quality Control (RQC)—by mediating proteolytic targeting of incompl
Autor:
Julia Platt, Megan H. Hawley, Gabi Richard, K Thomson, Hana Zouk, James S. Ware, Wendy K. Chung, Hui Mei, Roddy Walsh, Birgit Funke, Ashley Ryan, Matthew S. Lebo, Melissa A. Kelly, Naif A.M. Almontashiri, John Garcia, Daniela Macaya, Leslie G. Biesecker, Matteo Vatta, Matthew T. Wheeler, Heather Mason-Suares, Theresa A. Grebe, Natalie Berger
Publikováno v:
Hum Mutat
Human mutation, 41(9), 1577-1587. Wiley-Liss Inc.
Human mutation, 41(9), 1577-1587. Wiley-Liss Inc.
The ACMG/AMP variant classification framework was intended for highly penetrant Mendelian conditions. While it is appreciated that clinically relevant variants exhibit a wide spectrum of penetrance, accurately assessing and expressing the pathogenici
Autor:
Eissa A. Faqeih, Malak Ali Alghamdi, Marwa A. Almahroos, Essa Alharby, Makki Almuntashri, Amnah M. Alshangiti, Prouteau Clément, Daniel G. Calame, Leila Qebibo, Lydie Burglen, Martine Doco-Fenzy, Mario Mastrangelo, Annalaura Torella, Filippo Manti, Vincenzo Nigro, Ziegler Alban, Ghadeer Saleh Alharbi, Jamil Amjad Hashmi, Rawya Alraddadi, Razan Alamri, Tadahiro Mitani, Barth Magalie, Zeynep Coban-Akdemir, Bilgen Bilge Geckinli, Davut Pehlivan, Antonio Romito, Vasiliki Karageorgou, Javier Martini, Estelle Colin, Dominique Bonneau, Aida Bertoli-Avella, James R. Lupski, Annalisa Pastore, Roy W.A. Peake, Ashraf Dallol, Majid Alfadhel, Naif A.M. Almontashiri
© 2022 American College of Medical Genetics and GenomicsPurpose: Pathogenic variants in genes encoding ubiquitin E3 ligases are known to cause neurodevelopmental syndromes. Additional neurodevelopmental disorders associated with the other genes enco
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04c2dd92120eef11b5b24601e4473af4
https://hdl.handle.net/11573/1662950
https://hdl.handle.net/11573/1662950
Autor:
Abdullah S. Al-Kharashi, Ahmed M. Abu El-Asrar, Emad B. Abboud, Bandar Alamro, Fowzan S. Alkuraya, Ramadan Alturki, Rana Helaby, Niema Ibrahim, Bandar Al Ghamdi, Hisham Alkuraya, Nisha Patel, Mohammed D. Alotaibi, Sawsan R. Nowilaty, Abdulrahman Al-Hussaini, Sulaiman M. Alsulaiman, Amani Elshaer, Zainab Almasseri, Hamad Al-Zaidan, Naif A.M. Almontashiri, Wafaa Eyaid
Publikováno v:
Clinical Genetics. 97:447-456
Retinal arterial macroaneurysms with supravalvular pulmonic stenosis (RAMSVPS), also known as Familial Retinal Arterial Macroaneurysms (FRAM) syndrome, is a very rare multisystem disorder. Here, we present a case series comprising ophthalmologic and