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مها حسن عبد العزيز داغستاني

Professor

عضو هيئة التدريس / كلية العلوم / قسم علم الحيوان

كلية العلوم
مبنى 5الدورالثالث مكتب رقم17
publication
Journal Article
2021

Hematological findings associated with tubulin-folding

Chedrawi,, Albandary Al-Bakheet, Mohamed Tohary, Sameena Khan, Aziza . 2021

bstract The dysfunction of microtubules (α/β-tubulin polymers) underlies a wide range of nervous system genetic abnormalities. Defects in TBCD, a tubulin-folding cofactor, cause diseases highlighted with early-onset encephalopathy with or without neurodegeneration, intellectual disability, seizures, microcephaly and tetraparaperesis. Utilizing various molecular methods, we describe nine patients from four unrelated families with two novel exon 18 variants in TBCD exhibiting the typical neurological phenotype of the disease. Interestingly, all the investigated patients had previously unreported hematological findings in the form of neutropenia and mild degree of anemia and thrombocytopenia. In addition to delineating the neurological phenotype in several patients with TBCD variants, our study stresses on the new association of neutropenia, in particular, with the disease. KEYWORDS corpus callosum, hematological findings, neurodegenerative disease, neutropenia, TBCD 

 

 

Publication Work Type
نشر علمي
Magazine \ Newspaper
CLINICAL GENETICS
Pages
1-11
more of publication
publications

Abstract

Background

Polycystic ovarian syndrome (PCOS) is a frequently encountered disorder. This study aimed to identify polymorphisms in ADRB2 in Saudi PCOS development and to…

by Maha H. Daghestani1, Maha Omair2, Mazin Daghestani3,
2021
publications

bstract The dysfunction of microtubules (α/β-tubulin polymers) underlies a wide range of nervous system genetic abnormalities. Defects in TBCD, a tubulin-folding cofactor, cause diseases…

by Albandary Al-Bakheet, Mohamed Tohary, Sameena Khan, Aziza Chedrawi,
2021
publications

Abstract: Green synthesized nanoparticles from plant extracts are being used in various biomedical applications, particularly because of their bactericidal and cytotoxic activities. In this study…

by Maha Daghestani, Sarah A. Al Rashed, Wadha Bukhari, Badryah Al-Ojayan,Eiman M. Ibrahim, Asma M. Al-Qahtani, Nada M. Merghani, Rasha Ramadan, and
2020