Výsledky vyhledávání - "Abdullah Alashwal"

Akademický článek

A CYP11A1 homozygous exonic variant inducing an alternative splicing, frameshift and truncation in a family with congenital adrenal hyperplasia

Autor: Kheloud M. Alhamoudi, Meshael Alswailem, Balgees Alghamdi, Abdullah Alashwal, Ali S. Alzahrani

Publikováno v: Heliyon, Vol 10, Iss 15, Pp e35058- (2024)

Background: Congenital adrenal hyperplasia (CAH) is a heterogeneous group of adrenal steroidogenesis disorders with variable degrees of glucocorticoid, mineralocorticoid and sex steroid deficiencies. CYP11A1 gene encodes the mitochondrial cholesterol

Externí odkaz: https://doaj.org/article/a1d4cbc19668450da7bbc68e469aaa7d

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Akademický článek

25-Hydroxylase vitamin D deficiency in 27 Saudi Arabian subjects: a clinical and molecular report on CYP2R1 mutations

Autor: Sarah Bakhamis, Faiqa Imtiaz, Khushnooda Ramzan, Edward De Vol, Osamah Al-Sagheir, Abdulrahman Al-Rajhi, Abdullah Alashwal, Bassam Bin Abbas, Nadia Sakati, Afaf Al-Sagheir

Publikováno v: Endocrine Connections, Vol 10, Iss 7, Pp 767-775 (2021)

Vitamin D deficiency remains a major cause of rickets worldwide. Nutritional factors are the major cause and less commonly, inheritance causes. Rece ntly, CYP2R1 has been reported as a major factor for 25-hydroxylation contributing to the inherited

Externí odkaz: https://doaj.org/article/59ab0c0cbda948019b693dfe448cc62a

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Akademický článek

1. Founder mutation identified in the LDLR gene causing familial hypercholesterolemia associated with increased risk of coronary heart disease

Autor: Faisal Al-Allaf, Mohammad Athar, Abdullah Alashwal, Zainularifeen Abduljaleel, Taher Mohiuddin, Abdellatif Bouazzaoui, Halah Abalkhail, Rakan Own, Ahmad Al-Allaf, Iman Abumansour, Zohor Azhar, Fahad Alnouri, Mawaddah Toonsi

Publikováno v: Journal of the Saudi Heart Association, Vol 29, Iss 4, p 318 (2017)

Basic science research. Presentation Type: Oral presentation. Introduction: Coronary artery diseases (CAD) inflict heavy economical and social cost on most populations including Saudi’s and contribute significantly to their morbidity and mortality

Externí odkaz: https://doaj.org/article/f40b7cfc3fb5438e887e7b4e6a470b54

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Akademický článek

4. Identification of a novel nonsense variant C.1332DUP, P. (D445*) in the LDLR gene that causes familial hypercholesterolemia

Autor: Faisal Al-Allaf, Mohammad Athar, Zainularifeen Abduljaleel, Abdellatif Bouazzaoui, Taher Mohiuddin, Rakan Own, Ahmad Al-Allaf, Iman Abumansour, Zohor Azhar, Faisal Ba-Hammam, Halah Abalkhail, Abdullah Alashwal

Publikováno v: Journal of the Saudi Heart Association, Vol 29, Iss 4, p 325 (2017)

Basic Science Research. Presentation type: Digital Poster. Introduction: Familial hypercholesterolemia (FH) is an autosomal dominant disease predominantly caused by a mutation in the low-density lipoprotein receptor (LDLR) gene. Here, we describe two

Externí odkaz: https://doaj.org/article/30df913d36c54cbf9e625137df07c63d

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Identification and Treatment of Patients with Homozygous Familial Hypercholesterolaemia: Information and Recommendations from a Middle East Advisory Panel

Autor: Nasreen Al-Sayed, Khalid Al-Waili, Maryam Razzaghy-Azar, Jacques Genest, Fahad Alnouri, Hani Sabbour, Abdulraof Al-Mahfouz, Abdullah Alashwal, Raul D. Santos, Yajnavalka Banerjee, Khalid Al-Rasadi, Faisal A. Al-Allaf

Publikováno v: Current Vascular Pharmacology
Scopus-Elsevier

We present clinical practice guidelines for the diagnosis and treatment of homozygous familial hypercholesterolaemia (HoFH) in the Middle East region. While guidelines are broadly applicable in Europe, in the Middle East we experience a range of conf

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b2fde67ee3bcbd26beb36e0a543e6d02
https://doi.org/10.2174/1570161113666150827125040

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1. Founder mutation identified in the LDLR gene causing familial hypercholesterolemia associated with increased risk of coronary heart disease

Autor: Mawaddah Toonsi, Fahad Alnouri, Abdullah Alashwal, Halah Abalkhail, Rakan Own, Zainularifeen Abduljaleel, Ahmad F Al-Allaf, Faisal A. Al-Allaf, Mohammad Athar, Zohor Azhar, Abdellatif Bouazzaoui, Iman Abumansour, Taher Mohiuddin

Publikováno v: Journal of the Saudi Heart Association, Vol 29, Iss 4, p 318 (2017)

Type Basic science research. Presentation Type Oral presentation. Introduction Coronary artery diseases (CAD) inflict heavy economical and social cost on most populations including Saudi’s and contribute significantly to their morbidity and mortali

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da68a2e74971da30968ddca2d66490a7
http://www.sciencedirect.com/science/article/pii/S1016731517300775

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Hereditary 1,25-dihydroxyvitamin D-resistant rickets (HVDRR): clinical heterogeneity and long-term efficacious management of eight patients from four unrelated Arab families with a loss of function VDR mutation

Autor: Muhammad, Faiyaz-Ul-Haque, Waheeb, AlDhalaan, Abdullah, AlAshwal, Bassam S, Bin-Abbas, Afaf, AlSagheir, Maram, Alotaiby, Zulqurnain, Rafiq, Syed H E, Zaidi

Publikováno v: Journal of pediatric endocrinologymetabolism : JPEMReferences. 31(8)

Vitamin D regulates the concentrations of calcium and phosphate in blood and promotes the growth and remodeling of bones. The circulating active form of vitamin D, 1,25-dihydroxyvitamin D, binds to the vitamin D receptor (VDR), which heterodimerizes

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::c313e1a0771b308269ffdb34a78275dc
https://pubmed.ncbi.nlm.nih.gov/29949513

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Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population

Autor: Malak Alghamdi, Susan Alhumaidi, Saeed Altala, Mirna Assoum, Aziza Chedrawi, Moeen Al-Sayed, Hisham Aldhalaan, Suzan A AlKhater, M. Abouelhoda, Turki Alshareef, Maha Alotaibi, Khalid S. Alqadi, Alya Alkaff, Syed Ahmed, Musad Abu Khaled, Suad Al Yamani, Bassem Albeirouti, Ali Al-Mehaidib, Walaa Alshuaibi, Nawal Makhseed, Ghada M H Abdel-Salam, Ewa Goljan, Zuhair Rahbeeni, Maisoon Almugbel, Shaza Makki, Ranad Albar, Fuad Al Mutairi, Khalid Alsaleem, Hanaa Banjar, Fahad A. Bashiri, Abdulaziz Bin Manee, Mona Alsaleh, Marwan Shaheen, Mohammed Fawzy, Sami Wali, Fahad Almohareb, Hisham Alkuraya, Shakir Bahzad, Ayman Shawli, Wesam Kurdi, Wajeeh Aldekhail, Somaya Alzelaye, Rand Arnaout, Abdullah Alsonbul, Sami Al-Hajjar, Saeed Hassan, Sameena Khan, Mohammed AlBalwi, Khalid Awartani, Sulaiman M. Al-Mayouf, Amal Alhashem, Hamoud Al-Mousa, Abdulaziz Alsemari, Hadeel Elbardisy, Mohamed El-Kalioby, Edward Cupler, Bandar Al-Saud, Hadeel Alghamdi, Isam Salih, Saadeh Sermin, Fahad Alsohaibaini, Shapar Nahrir, Hibah Alruwaili, Hamad Al-Zaidan, Nada Alsahan, Abdullah Alfaifi, Dalal K. Bubshait, Mohammed Nasr, Ahmed Alnahari, Ameen Tajuddin, Maged H. Hussein, Muddathir H Hamad, Asma Akilan, Afaf Alsagheir, Dorota Monies, Shamsad Shahrukh, Emadia Alaki, Tariq Abalkhail, Ahmed Sahly, Hamsa T. Tayeb, Badi Alenazi, Fowzan S. Alkuraya, Mohammed Al-Owain, Mohammed Abanemai, Ali Al-Ahmari, Maha Faden, Neama Meriki, Amal Alqasmi, Talal A. Basha, Hatem Murad, Hanna Akleh, Nabil Moghrabi, Asma I. Tahir, Abdulhadi Altalhi, Amal Jaafar, Ola Jarrad, Salah Baz, Abdullah Tamim, Ibraheem F. Abosoudah, Shazia Subhani, Manal Badawi, Raashida Sulaiman, Essam Al-Sabban, Brian F. Meyer, Talal Algoufi, Alya Qari, Mohammed Mahnashi, Hasan Al-Dhekri, Saeed Bohlega, Rafiullah Rafiullah, Naif A.M. Almontashiri, Mustafa A. Salih, Shahrukh K. Hashmi, Ibrahim Ghemlas, Zeeshan Shah, Abdullah Alashwal, Ehab Tous

Publikováno v: The American Journal of Human Genetics. 105:879

We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed us to make several key observations. We highlight 155 genes that we

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0365855d2d5af752e8f99d9baffcda1e
https://doi.org/10.1016/j.ajhg.2019.09.019

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