Zobrazeno 1 - 10
of 46
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acafb70264bfe00a165f44e4cacb7593
https://doi.org/10.1002/humu.24251
https://doi.org/10.1002/humu.24251
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a86f72606c5b8627246253f53a8eb621
https://doi.org/10.1038/s10038-021-00904-2
https://doi.org/10.1038/s10038-021-00904-2
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b4ec948453c6f4d73513f24691778d2f
https://doaj.org/article/b025566dc73a49eba1468daddca86ccd
https://doaj.org/article/b025566dc73a49eba1468daddca86ccd
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05f4896a040d5d587acbdb90a663ae03
https://doi.org/10.1002/humu.24061
https://doi.org/10.1002/humu.24061
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::131e77cfe46d6a6dea26638ff5239fcd
https://doi.org/10.1111/cge.13676
https://doi.org/10.1111/cge.13676
Publikováno v:
Clinical Chemistry. 67:912-914
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3fe60b0463996b851174407d4bffa725
https://doi.org/10.1093/clinchem/hvab016
https://doi.org/10.1093/clinchem/hvab016
Autor:
Norah Alsaleh, Amal Alhashem, Brahim Tabarki, Sarar Mohamed, Essa Alharby, Fowzan S. Alkuraya, Naif A.M. Almontashiri
Publikováno v:
Neurology Genetics. 8:e200010
ObjectivesOur objective was to identify the genetic cause in a family with a remarkable history of neurodevelopmental disease and growth retardation.MethodsA neurologic evaluation was performed, and DNA samples were obtained from the affected sibling
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::e076d938bb889ee46a10c81de7d74341
https://doi.org/10.1212/nxg.0000000000200010
https://doi.org/10.1212/nxg.0000000000200010
Autor:
Abdullah Dageeg, Raushan Nugmanova, Huoming Zhang, Tobias Mourier, Afrah Alsomali, Sadhasivam Perumal, Awad Al-Omari, Sharif Hala, Abbas Shamsan, Fathia Ben Rached, Arnab Pain, Paula Moraga, Anwar M. Hashem, Issaac Rajan, Fadwa S. Alofi, Abbas Al Mutair, Muhammad Shuaib, Naif A.M. Almontashiri, Luke Esau, Abdulaziz Alahmadi, Olga Douvropoulou, Amanda Siok Lee Ooi, Sara Mfarrej, Raeece Naeem, Nashwa Khotani, David Jorgensen, Eric Volz, Khaled Alquthami, Qingtian Guan, Rahul Salunke, Asim Khogeer, Abdelrahman Alhamss, Amit Kumar Subudhi, Jumana Taha, Ahmed Mahmoud, Samer Salih
SummaryMonitoring SARS-CoV-2 spread and evolution through genome sequencing is essential in handling the COVID-19 pandemic. The availability of patient hospital records is crucial for linking the genomic sequence information to virus function during
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::2fc6cbc9564c049ec6f6ec129ddb609e
https://doi.org/10.1101/2021.05.06.21256706
https://doi.org/10.1101/2021.05.06.21256706
