Zobrazeno 1 - 10
of 41
pro vyhledávání: '"Yusra Alyafee"'
Autor:
Abeer Al Tuwaijri, Yusra Alyafee, Muhammad Umair, Arwa Alsubait, Mashael Alharbi, Hamad AlEidi, Mariam Ballow, Mohammed Aldrees, Qamre Alam, Abdulkareem Al Abdulrahman, Muhammad Talal Alrifai, Majid Alfadhel
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 11, Iss 4, Pp n/a-n/a (2023)
Abstract Background Congenital disorders of glycosylation (CDG) are a group of heterogeneous disorders caused by abnormal lipid or protein glycosylation. Variants in the FCSK gene have been reported to cause CDG. Defective FCSK‐induced CDG (FCSK–
Externí odkaz:
https://doaj.org/article/749d1d3869cd49fbb491ca3b51a3fe3b
Autor:
Yusra Alyafee, Abeer Al Tuwaijri, Muhammad Umair, Mashael Alharbi, Shahad Haddad, Maryam Ballow, Latifah Alayyar, Qamre Alam, Saleh Althenayyan, Nadia Al Ghilan, Aziza Al Khaldi, Majid S. Faden, Hamad Al Sufyan, Majid Alfadhel
Publikováno v:
Frontiers in Genetics, Vol 13 (2022)
Background: In pregnant women at risk of autosomal recessive (AR) disorders, prenatal diagnosis of AR disorders primarily involves invasive procedures, such as chorionic villus sampling and amniocentesis.Methods: We collected blood samples from four
Externí odkaz:
https://doaj.org/article/6349c6a25dd14c8d86f5e7a5721f6c04
Autor:
Abeer Al Tuwaijri, Yusra Alyafee, Mashael Alharbi, Maryam Ballow, Mohammed Aldrees, Qamre Alam, Rola A. Sleiman, Muhammad Umair, Majid Alfadhel
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 10, Iss 8, Pp n/a-n/a (2022)
Abstract Background Dilated cardiomyopathy with ataxia syndrome (DCMA) or 3‐methylglutaconic aciduria type V is a rare global autosomal recessive mitochondrial syndrome that is clinically and genetically heterogeneous. It is characterized by early
Externí odkaz:
https://doaj.org/article/24ff3b1c93b5491089cb4bf443c751b5
Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay
Autor:
Abdulaziz Asiri, Essra Aloyouni, Muhammad Umair, Yusra Alyafee, Abeer Al Tuwaijri, Kheloud M. Alhamoudi, Bader Almuzzaini, Abeer Al Baz, Deemah Alwadaani, Marwan Nashabat, Majid Alfadhel
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 6, Pp 956-964 (2020)
Abstract Background RAP1GDS1 (RAP1, GTP‐GDP dissociation stimulator 1), also known as SmgGDS, is a guanine nucleotide exchange factor (GEF) that regulates small GTPases, including, RHOA, RAC1, and KRAS. RAP1GDS1 was shown to be highly expressed in
Externí odkaz:
https://doaj.org/article/518fb0baa2524b189e7fe927120189d9
Autor:
Muhammad Umair, Muhammad Farooq Khan, Mohammed Aldrees, Marwan Nashabat, Kheloud M. Alhamoudi, Muhammad Bilal, Yusra Alyafee, Abeer Al Tuwaijri, Manar Aldarwish, Ahmed Al-Rumayyan, Hamad Alkhalaf, Mohammad A. M. Wadaan, Majid Alfadhel
Publikováno v:
Frontiers in Cell and Developmental Biology, Vol 9 (2021)
Von Willebrand A domain-containing protein 8 (VWA8), also named KIAA0564, is a poorly characterized, mitochondrial matrix-targeted protein having a putative ATPase activity. VWA8 is comprising of ATPase-associated domains and a VWFA domain associated
Externí odkaz:
https://doaj.org/article/363b2eec6410403fb8e787f0d6ca8e8b
Autor:
Yusra Alyafee, Abeer Al Tuwaijri, Qamre Alam, Muhammad Umair, Shahad Haddad, Mashael Alharbi, Maryam Ballow, Mohammed Al Drees, Abdulkareem AlAbdulrahman, Aziza Al Khaldi, Majid Alfadhel
Publikováno v:
Frontiers in Genetics, Vol 12 (2021)
Background: Non-invasive prenatal testing (NIPT) for aneuploidy in pregnant women screening has been recently established in Saudi Arabia. We aim from this study to report our experience in the implementation of this new technology in clinical practi
Externí odkaz:
https://doaj.org/article/9782d8417dd84d6cab88830843dd6000
Autor:
Kheloud M. Alhamoudi, Javaid Bhat, Marwan Nashabat, Masheal Alharbi, Yusra Alyafee, Abdulaziz Asiri, Muhammad Umair, Majid Alfadhel
Publikováno v:
Frontiers in Pediatrics, Vol 8 (2020)
UDP-glucose dehydrogenase (UGDH) encodes an oxidoreductase that converts two successive oxidations of UDP-glucose to produce UDP-glucuronic acid, a key component in the synthesis of several polysaccharides such as glycosaminoglycan and the disacchari
Externí odkaz:
https://doaj.org/article/aa524ed25ed248dfa64cc917d18886c3
Autor:
Abeer Al Tuwaijri, Yusra Alyafee, Muhammad Umair, Arwa Alsubait, Mashael Alharbi, Hamad AlEidi, Mariam Ballow, Mohammed Aldrees, Qamre Alam, Abdulkareem Al Abdulrahman, Muhammad Talal Alrifai, Majid Alfadhel
Publikováno v:
Molecular Genetics & Genomic Medicine. 11
Congenital disorders of glycosylation (CDG) are a group of heterogeneous disorders caused by abnormal lipid or protein glycosylation. Variants in the FCSK gene have been reported to cause CDG. Defective FCSK-induced CDG (FCSK-CDG) has only been repor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7b7925762c554bfa7957a20a5b7aa78
https://doi.org/10.1002/mgg3.2117
https://doi.org/10.1002/mgg3.2117
Autor:
Kheloud M. Alhamoudi, Abeer Al Tuwaijri, Senay Kafkas, Taghrid Aloraini, Muhammad Talal Alrifai, Mariam Ballow, Abdulaziz Asiri, Majid Alfadhel, Robert Hoehndorf, Ahmed Alfares, Marwa Abdelhakim, Yusra Alyafee, Muhammad Umair, Lamia Alsubaie, Azza Thamer Althagafi
Publikováno v:
Clinical Genetics
In recent years, several genes have been implicated in the variable disease presentation of global developmental delay (GDD) and intellectual disability (ID). The endoplasmic reticulum membrane protein complex (EMC) family is known to be involved in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3dedb0e1a9e71ae4869d39a867aba8e4
http://europepmc.org/articles/PMC7756316
http://europepmc.org/articles/PMC7756316
Mutated RAP1GDS1 causes a new syndrome of dysmorphic feature, intellectual disability & speech delay
Autor:
Essra Aloyouni, Marwan Nashabat, Majid Alfadhel, Kheloud M. Alhamoudi, Yusra Alyafee, Abdulaziz Asiri, Bader Almuzzaini, Deemah Alwadaani, Muhammad Umair, Abeer Al Tuwaijri, Abeer Al Baz
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 7, Iss 6, Pp 956-964 (2020)
Annals of Clinical and Translational Neurology
Annals of Clinical and Translational Neurology
Background RAP1GDS1 (RAP1, GTP‐GDP dissociation stimulator 1), also known as SmgGDS, is a guanine nucleotide exchange factor (GEF) that regulates small GTPases, including, RHOA, RAC1, and KRAS. RAP1GDS1 was shown to be highly expressed in different
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aaa8104c14786f5de0836f072e9c0900
https://doaj.org/article/518fb0baa2524b189e7fe927120189d9
https://doaj.org/article/518fb0baa2524b189e7fe927120189d9