Výsledky vyhledávání - "Angham Abdulrahman, Abdulkareem"

Akademický článek

Autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family

Autor: Hussein Algahtani, Bader Shirah, Ikram Ullah, Mohammad H. Al-Qahtani, Angham Abdulrahman Abdulkareem, Muhammad Imran Naseer

Publikováno v: Genes and Diseases, Vol 8, Iss 1, Pp 110-114 (2021)

The nonlysosomal glucosylceramidase β2 (GBA2) gene encode an enzyme that catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. Mutations in the GBA2 gene have been reported to cause hereditary spastic paraplegia, autosomal recessive

Externí odkaz: https://doaj.org/article/a35dd409b3ab482eb5431a3aa8c1704a

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Akademický článek

Next-Generation Sequencing Reveals Novel Homozygous Missense Variant c.934T > C in POLR1C Gene Causing Leukodystrophy and Hypomyelinating Disease

Autor: Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Peter Natesan Pushparaj, Samah Saharti, Osama Y. Muthaffar

Publikováno v: Frontiers in Pediatrics, Vol 10 (2022)

Leukodystrophies are a diverse group of genetically established disorders categorized by unusual white matter changes on brain imaging. Hypomyelinating leukodystrophies (HLDs) are a group of neurodevelopmental disorders that affect myelin sheath deve

Externí odkaz: https://doaj.org/article/db3ec61e9bf844f9b1ab3e5227423a5e

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Akademický článek

Whole-Exome Sequencing Reveals a Missense Variant c.1612C>T (p.Arg538Cys) in the BTD Gene Leading to Neuromyelitis Optica Spectrum Disorder in Saudi Families

Autor: Muhammad Imran Naseer, Peter Natesan Pushparaj, Angham Abdulrahman Abdulkareem, Osama Y. Muthaffar

Publikováno v: Frontiers in Pediatrics, Vol 9 (2022)

Biotinidase deficiency is an autosomal recessive, multiple carboxylase deficiency usually associated with seizures, eczema, hypotonia, visual disturbances, hearing loss, and developmental delays. Only a handful of cases of biotinidase deficiency that

Externí odkaz: https://doaj.org/article/8029b5eccf984ffbb954b360352fe5cc

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Akademický článek

Identification of Novel Gene Signatures using Next-Generation Sequencing Data from COVID-19 Infection Models: Focus on Neuro-COVID and Potential Therapeutics

Autor: Peter Natesan Pushparaj, Angham Abdulrahman Abdulkareem, Muhammad Imran Naseer

Publikováno v: Frontiers in Pharmacology, Vol 12 (2021)

SARS-CoV-2 is the causative agent for coronavirus disease-19 (COVID-19) and belongs to the family Coronaviridae that causes sickness varying from the common cold to more severe illnesses such as severe acute respiratory syndrome, sudden stroke, neuro

Externí odkaz: https://doaj.org/article/0edd7100b4de4d04860e5926cbcc903c

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Akademický článek

Whole Exome Sequencing Identifies Three Novel Mutations in the ASPM Gene From Saudi Families Leading to Primary Microcephaly

Autor: Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Osama Yousef Muthaffar, Sameera Sogaty, Hiba Alkhatabi, Sarah Almaghrabi, Adeel G. Chaudhary

Publikováno v: Frontiers in Pediatrics, Vol 8 (2021)

Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental defect that is characterized by reduced head circumference at birth along with non-progressive intellectual disability. Till date, 25 genes related to MCPH have been reported so

Externí odkaz: https://doaj.org/article/6a65631b3f314ae18ee7a9b60daf7005

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Akademický článek

Novel Missense Variant in Heterozygous State in the BRPF1 Gene Leading to Intellectual Developmental Disorder With Dysmorphic Facies and Ptosis

Autor: Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Francisco J. Guzmán-Vega, Stefan T. Arold, Peter Natesan Pushparaj, Adeel G. Chaudhary, Mohammad H. AlQahtani

Publikováno v: Frontiers in Genetics, Vol 11 (2020)

Intellectual developmental disorder with dysmorphic facies and ptosis is an autosomal dominant condition characterized by delayed psychomotor development, intellectual disability, delayed speech, and dysmorphic facial features, mostly ptosis. Heteroz

Externí odkaz: https://doaj.org/article/f57cfc2f8f7e42ee95dad64dd5c15fe5

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Akademický článek

Exome Analysis Identified Novel Homozygous Splice Site Donor Alteration in NT5C2 Gene in a Saudi Family Associated With Spastic Diplegia Cerebral Palsy, Developmental Delay, and Intellectual Disability

Autor: Muhammad Imran Naseer, Angham Abdulrahman Abdulkareem, Peter Natesan Pushparaj, Fehmida Bibi, Adeel G. Chaudhary

Publikováno v: Frontiers in Genetics, Vol 11 (2020)

Hereditary spastic paraplegias (HSPs) is a rare heterogeneous group of neurodegenerative diseases, with upper and lower limb spasticity motor neuron disintegration leading to paraplegias. NT5C2 gene (OMIM: 600417) encode a hydrolase enzyme 5'-nucleot

Externí odkaz: https://doaj.org/article/45d69397197e481db89ce931fb539def

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Chronic progressive external ophthalmoplegia in a Saudi patient with a mutation in the POLG gene successfully managed with bilateral frontalis sling

Autor: Hussein Algahtani, Bader Shirah, Khalid Alsaggaf, Mohammad H. Al-Qahtani, Angham Abdulrahman Abdulkareem, Muhammad Imran Naseer, Ahmad R. Abuzinadah

Publikováno v: Journal of Genetic Medicine. 18:121-126

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::7be2c6cdcc6b5d81fae626b7f95e0ec4
https://doi.org/10.5734/jgm.2021.18.2.121

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Exome sequencing reveled a compound heterozygous mutations in RTTN gene causing developmental delay and primary microcephaly

Autor: Osama Y. Muthaffar, Muhammad Imran Naseer, Adeel G. Chaudhary, Angham Abdulrahman Abdulkareem

Publikováno v: Saudi Journal of Biological Sciences, Vol 28, Iss 5, Pp 2824-2829 (2021)

RTTN (Rotatin) (OMIM 614833) is a large centrosomal protein coding gene. RTTN mutations are responsible for syndromic forms of malformation of brain development, leading to polymicrogyria, microcephaly, primordial dwarfism, seizure along with many ot

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af6ea0e3956e5ce33450aa26eaf26640
https://doi.org/10.1016/j.sjbs.2021.02.014

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