Ahmed Almatrafi
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View article: Identification of a Rare Snap91 Variant in a Saudi Family with Classic Heterotaxy: A Potential Candidate for Laterality Defects
Identification of a Rare Snap91 Variant in a Saudi Family with Classic Heterotaxy: A Potential Candidate for Laterality Defects Open
View article: Exome Sequence Analysis to Characterize Undiagnosed Family Segregating Motor Impairment and Dystonia
Exome Sequence Analysis to Characterize Undiagnosed Family Segregating Motor Impairment and Dystonia Open
Background: Hypermanganesemia with dystonia 1 (HMNDYT1) is a rare genetic disorder characterized by elevated blood manganese levels. This condition is associated with polycythemia, motor neurodegeneration with extrapyramidal features, and …
View article: Expression pattern analysis of the MAGE family genes in breast cancer patients and hypomethylation activation in the MCF-7 cells
Expression pattern analysis of the MAGE family genes in breast cancer patients and hypomethylation activation in the MCF-7 cells Open
Melanoma antigen gene (MAGE) families are cancer-testis genes that normally show expression in the testes. However, their expressions have been linked with various types of human cancers, including BC. Therefore, the primary purposes of th…
View article: Exome Sequencing to Identify Novel Variants Associated with Secondary Amenorrhea and Premature Ovarian Insufficiency (POI) in Saudi Women
Exome Sequencing to Identify Novel Variants Associated with Secondary Amenorrhea and Premature Ovarian Insufficiency (POI) in Saudi Women Open
Background and objectives: Post-pubertal disappearance of menstrual cycles (secondary amenorrhea) associated with premature follicular depletion is a heterogeneous condition. Patients with this disease have low levels of gonadal hormones a…
View article: Molecular differentiation of coagulase-positive staphylococcal isolates carrying mecA- and PVL-encoding genes among healthy males
Molecular differentiation of coagulase-positive staphylococcal isolates carrying mecA- and PVL-encoding genes among healthy males Open
Aims: This study was aimed to monitor the asymptomatic carriage of coagulase-positive staphylococcal bacteria among university male students and detect the prevalence of virulence marker genes that encode methicillin resistance (mecA) and …
View article: Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up
Homozygous Duplication in the CHRNE in a Family with Congenital Myasthenic Syndrome 4C: 18-Year Follow Up Open
Background and objectives: Congenital myasthenic syndromes (CMSs) are rare inherited diseases characterized by muscle weakness and fatigability on exertion resulting from defects in the neuromuscular junctions. Mutations in 32 genes have b…
View article: A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management Perspectives
A Current Landscape on Alport Syndrome Cases: Characterization, Therapy and Management Perspectives Open
Alport syndrome (AS) is a rare genetic disorder categorized by the progressive loss of kidney function, sensorineural hearing loss and eye abnormalities. It occurs due to mutations in three genes that encode for the alpha chains of type IV…
View article: Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency
Association of Homozygous PROP1 Mutation in a Saudi Family with Combined Pituitary Hormone Deficiency Open
Background and Objectives: Combined pituitary hormone deficiency (CPHD) is a rare heterogeneous disease. It is characterized by the deficiency of growth hormone (GH) and shortage of at least one or more other hormones of the pituitary glan…
View article: Clinical and Molecular Genetic Characterization of Waardenburg Syndrome
Clinical and Molecular Genetic Characterization of Waardenburg Syndrome Open
Waardenburg syndrome (WS) is a clinically and genetically heterogeneous rare genetic disorder encompassing a wide spectrum of anomalies.WS is divided into four primary categories based on clinical and genetic characteristics.WS exists in a…
View article: Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant
Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant Open
Waardenburg syndrome (WS) is a hereditary disorder affecting the auditory system and pigmentation of hair, eyes, and skin. Different variants of the disease exist with the involvement of mutation in six genes. The aim of the study is to id…
View article: Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers–Danlos Syndrome: A Report of a Saudi Founder Mutation
Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers–Danlos Syndrome: A Report of a Saudi Founder Mutation Open
Ehlers–Danlos syndrome (EDS) is a group of clinically and genetically heterogeneous disorder of soft connective tissues. The hallmark clinical features of the EDS are hyperextensible skin, hypermobile joints, and fragile vessels. It exhibi…
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View article: Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach
Investigating the pathogenic SNPs in BLM helicase and their biological consequences by computational approach Open
The BLM helicase protein plays a vital role in DNA replication and the maintenance of genomic integrity. Variation in the BLM helicase gene resulted in defects in the DNA repair mechanism and was reported to be associated with Bloom syndro…
View article: Missense Mutations in the<i>CTSC</i>Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome
Missense Mutations in the<i>CTSC</i>Gene in Saudi Families Segregating Papillon-Lefèvre Syndrome Open
View article: KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption
KMT2C, a histone methyltransferase, is mutated in a family segregating non-syndromic primary failure of tooth eruption Open
Primary failure of tooth eruption (PFE) is a rare odontogenic defect and is characterized by failure of eruption of one or more permanent teeth. The aim of the study is to identify the genetic defect in a family with seven affected individ…
View article: Molecular identification of some fungi associated with soft dates (Phoenix dactylifera L.) in Saudi Arabia
Molecular identification of some fungi associated with soft dates (Phoenix dactylifera L.) in Saudi Arabia Open
The Kingdom of Saudi Arabia is considered one of the major dates producing zones in the world, contributing 13% of the total world production.Most of the dates are delivered to local markets without any treatment thus, may be leading to mi…
View article: Whole exome sequencing identified a novel single base pair insertion mutation in the <i>EYS</i> gene in a six generation family with retinitis pigmentosa
Whole exome sequencing identified a novel single base pair insertion mutation in the <i>EYS</i> gene in a six generation family with retinitis pigmentosa Open
Retinitis pigmentosa (RP) is a group of inherited progressive retinal dystrophies (RD) and is characterized by photoreceptor degeneration. RP is clinically and genetically heterogeneous disorder. More than 70 genes are known and, thus, ide…