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Biallelic variants in FLII cause pediatric cardiomyopathy by disrupting cardiomyocyte cell adhesion and myofibril organization.
Ruijmbeek CW, Housley F, Idrees H, Housley MP, Pestel J, Keller L, Lai JK, der Linde HCV, Willemsen R, Piesker J, Al-Hassnan ZN, Almesned A, Dalinghaus M, den Bersselaar LMV, van Slegtenhorst MA, Tessadori F, Bakkers J, van Ham TJ, Stainier DY, Verhagen JM, Reischauer S. Ruijmbeek CW, et al. Among authors: al hassnan zn. JCI Insight. 2023 Sep 8;8(17):e168247. doi: 10.1172/jci.insight.168247. JCI Insight. 2023. PMID: 37561591 Free PMC article.
Expanded Newborn Screening Program in Saudi Arabia: Incidence of screened disorders.
Alfadhel M, Al Othaim A, Al Saif S, Al Mutairi F, Alsayed M, Rahbeeni Z, Alzaidan H, Alowain M, Al-Hassnan Z, Saeedi M, Aljohery S, Alasmari A, Faqeih E, Alwakeel M, AlMashary M, Almohameed S, Alzahrani M, Migdad A, Al-Dirbashi OY, Rashed M, Alamoudi M, Jacob M, Alahaidib L, El-Badaoui F, Saadallah A, Alsulaiman A, Eyaid W, Al-Odaib A. Alfadhel M, et al. J Paediatr Child Health. 2017 Jun;53(6):585-591. doi: 10.1111/jpc.13469. Epub 2017 Mar 24. J Paediatr Child Health. 2017. PMID: 28337809
Identification of Gaucher disease mutations found in Saudi Arabia.
Kaya N, Al-Zahrani F, Al-Odaib A, Rahbeeni Z, Al-Hassnan Z, Al-Sharif F, Ozand P, Al-Sayed M. Kaya N, et al. Blood Cells Mol Dis. 2008 Sep-Oct;41(2):200-1. doi: 10.1016/j.bcmd.2008.05.002. Epub 2008 Jun 30. Blood Cells Mol Dis. 2008. PMID: 18586535 No abstract available.
Molecular Dynamics Simulation Reveals Exposed Residues in the Ligand-Binding Domain of the Low-Density Lipoprotein Receptor that Interacts with Vesicular Stomatitis Virus-G Envelope.
Al-Allaf FA, Abduljaleel Z, Taher MM, Abdellatif AAH, Athar M, Bogari NM, Al-Ahdal MN, Al-Mohanna F, Al-Hassnan ZN, Alzabeedi KHY, Banssir TM, Bouazzaoui A. Al-Allaf FA, et al. Viruses. 2019 Nov 15;11(11):1063. doi: 10.3390/v11111063. Viruses. 2019. PMID: 31731579 Free PMC article.
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
Van Gucht I, Meester JAN, Bento JR, Bastiaansen M, Bastianen J, Luyckx I, Van Den Heuvel L, Neutel CHG, Guns PJ, Vermont M, Fransen E, Perik MHAM, Velchev JD, Alaerts M, Schepers D, Peeters S, Pintelon I, Almesned A, Ferla MP, Taylor JC, Dallosso AR, Williams M, Evans J; Genomics England Research Consortium; Rosenfeld JA, Sluysmans T, Rodrigues D, Chikermane A, Bharmappanavara G, Vijayakumar K, Mottaghi Moghaddam Shahri H, Hashemi N, Torbati PN, Toosi MB, Al-Hassnan ZN, Vogt J, Revencu N, Maystadt I, Miller EM, Weaver KN, Begtrup A, Houlden H, Murphy D, Maroofian R, Pagnamenta AT, Van Laer L, Loeys BL, Verstraeten A. Van Gucht I, et al. Am J Hum Genet. 2021 Jun 3;108(6):1115-1125. doi: 10.1016/j.ajhg.2021.04.019. Epub 2021 May 18. Am J Hum Genet. 2021. PMID: 34010605 Free PMC article.
Hypomorphic GINS3 variants alter DNA replication and cause Meier-Gorlin syndrome.
McQuaid ME, Ahmed K, Tran S, Rousseau J, Shaheen R, Kernohan KD, Yuki KE, Grover P, Dreseris ES, Ahmed S, Dupuis L, Stimec J, Shago M, Al-Hassnan ZN, Tremblay R, Maass PG, Wilson MD, Grunebaum E, Boycott KM, Boisvert FM, Maddirevula S, Faqeih EA, Almanjomi F, Khan ZU, Alkuraya FS, Campeau PM, Kannu P, Campos EI, Wurtele H. McQuaid ME, et al. Among authors: al hassnan zn. JCI Insight. 2022 May 23;7(10):e155648. doi: 10.1172/jci.insight.155648. JCI Insight. 2022. PMID: 35603789 Free PMC article.
102 results