Zobrazeno 1 - 10
of 422
pro vyhledávání: '"A. Al-Jasmi"'
Autor:
Jaloliddin Rustamov, Zahiriddin Rustamov, Mohd Saberi Mohamad, Nazar Zaki, Amal Al Tenaiji, Mariam Al Harbi, Fatma Al Jasmi
Publikováno v:
Scientific Reports, Vol 14, Iss 1, Pp 1-14 (2024)
Abstract Pompe disease (OMIM #232300), a rare genetic disorder, leads to glycogen buildup in the body due to an enzyme deficiency, particularly harming the heart and muscles. Infantile-onset Pompe disease (IOPD) requires urgent treatment to prevent m
Externí odkaz:
https://doaj.org/article/d9dbd0ee2c444adca0c8d81bbaad89b0
Autor:
Rahaf M. Ahmad, Bassam R. Ali, Fatma Al-Jasmi, Noura Al Dhaheri, Saeed Al Turki, Praseetha Kizhakkedath, Mohd Saberi Mohamad
Publikováno v:
Human Genomics, Vol 18, Iss 1, Pp 1-16 (2024)
Abstract Single nucleotide variants (SNVs) can exert substantial and extremely variable impacts on various cellular functions, making accurate predictions of their consequences challenging, albeit crucial especially in clinical settings such as in on
Externí odkaz:
https://doaj.org/article/0878bc18cc3d4afc895986a1c9f761b1
Autor:
Khalid Al‐Thihli, Nadia Al Hashmi, Aaisha Al Balushi, Asila Al‐Habsi, Eiman Al‐Ajmi, Fatma Al‐Jasmi, Fathiya Al‐Murshedi
Publikováno v:
JIMD Reports, Vol 65, Iss 4, Pp 226-232 (2024)
Abstract Carbonic anhydrase VA (CA‐VA) deficiency is a rare cause of hyperammonemia caused by biallelic mutations in CA5A. Most patients present with hyperammonemic encephalopathy in early infancy to early childhood, and patients usually have no fu
Externí odkaz:
https://doaj.org/article/276964319bbd44d69ab8f78f98a0174e
Autor:
Nadia Akawi, Ghadeera Al Mansoori, Anwar Al Zaabi, Andrea Badics, Noura Al Dhaheri, Aisha Al Shamsi, Amal Al Tenaiji, Bashar Alzohily, Fatmah S. A. Almesmari, Hamad Al Hammadi, Nahid Al Dhahouri, Manal Irshaid, Praseetha Kizhakkedath, Fatema Al Shibli, Mohammed Tabouni, Mushal Allam, Ibrahim Baydoun, Hiba Alblooshi, Bassam R. Ali, Roger S. Foo, Fatma Al Jasmi
Publikováno v:
Frontiers in Molecular Biosciences, Vol 11 (2024)
IntroductionThis study addresses the rising cardiovascular disease (CVD) rates in the United Arab Emirates (UAE) by investigating the occurrence and impact of genetic variants in CVD-related genes.MethodsWe collected all genes linked to heritable CVD
Externí odkaz:
https://doaj.org/article/b6bc9fb4cf5a4647b692f55a1729e594
Autor:
Marwa Al Busaidi, Feda E. Mohamed, Eiman Al-Ajmi, Nadia Al Hashmi, Khalid Al-Thihli, Amna Al Futaisi, Watfa Al Mamari, Fathiya Al-Murshedi, Fatma Al-Jasmi
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background In metabolic stress, the cytosolic phosphoenolpyruvate carboxykinase (PEPCK-C) enzyme is involved in energy production through the gluconeogenesis pathway. PEPCK-C deficiency is a rare childhood-onset autosomal recessive metabolic
Externí odkaz:
https://doaj.org/article/4c46b9ee8ba94f4794bc083e28077f10
Autor:
Moeenaldeen AlSayed, Fatma Al-Jasmi, Tawfeg Ben Omran, Fathiya Al-Murshedi, Rawda Sunbul, Nadia Al-Hashmi, Talal Al-Enazi
Publikováno v:
Journal of Biochemical and Clinical Genetics, Vol 6, Iss 1, Pp 41-56 (2023)
Acid sphingomyelinase deficiency (ASMD) is an autosomal-recessive progressive multiorgan metabolic disorder due to pathogenic variants in the sphingomyelin phosphodiesterase 1 gene. It can lead to death in early childhood in its most severe form. Acc
Externí odkaz:
https://doaj.org/article/9bc418cf35514541a8bc86a2a5233e2d
Autor:
Feda E. Mohamed, Fatma Al-Jasmi
Publikováno v:
Frontiers in Pharmacology, Vol 15 (2024)
Gaucher disease (GD) is mainly caused by glucocerebrosidase (GCase) enzyme deficiency due to genetic variations in the GBA1 gene leading to the toxic accumulation of sphingolipids in various organs, which causes symptoms such as anemia, thrombocytope
Externí odkaz:
https://doaj.org/article/6ae9e38231fa4a50848e3643ca80e7a6
Autor:
Amanat Ali, Mohammed Tabouni, Praseetha Kizhakkedath, Ibrahim Baydoun, Mushal Allam, Anne John, Faiza Busafared, Ayesha Alnuaimi, Fatma Al-Jasmi, Hiba Alblooshi
Publikováno v:
Frontiers in Genetics, Vol 15 (2024)
Background: Hearing loss (HL) is an impairment of auditory function with identified genetic forms that can be syndromic (30%) or non-syndromic (70%). HL is genetically heterogeneous, with more than 1,000 variants across 150 causative genes identified
Externí odkaz:
https://doaj.org/article/7e63ed68d0604a8eb3fd8833945c8d3f
Autor:
Yee Wen Choon, Yee Fan Choon, Nurul Athirah Nasarudin, Fatma Al Jasmi, Muhamad Akmal Remli, Mohammed Hassan Alkayali, Mohd Saberi Mohamad
Publikováno v:
Frontiers in Genetics, Vol 14 (2024)
Rare diseases (RDs) are rare complex genetic diseases affecting a conservative estimate of 300 million people worldwide. Recent Next-Generation Sequencing (NGS) studies are unraveling the underlying genetic heterogeneity of this group of diseases. NG
Externí odkaz:
https://doaj.org/article/2abf10cc48bd41f28228ebf2e4b734f4
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