Mohammad Miryounesi
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View article: Spectrum of genetic mutations among Iranian patients with primary hyperoxaluria type 1
Spectrum of genetic mutations among Iranian patients with primary hyperoxaluria type 1 Open
View article: Mutations in the Key Autophagy Tethering Factor <scp>EPG5</scp> Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism
Mutations in the Key Autophagy Tethering Factor <span>EPG5</span> Link Neurodevelopmental and Neurodegenerative Disorders Including Early‐Onset Parkinsonism Open
Objective Autophagy is a fundamental biological pathway with vital roles in intracellular homeostasis. During autophagy, defective cargoes including mitochondria are targeted to lysosomes for clearance and recycling. Recessive truncating v…
View article: Biallelic <i>NDUFA9</i> variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency
Biallelic <i>NDUFA9</i> variants cause a progressive neurodevelopmental disorder with prominent dystonia and mitochondrial complex I deficiency Open
Biallelic NDUFA9 variants have hitherto been associated with disease in four individuals. Hence, clinicogenetic features of NDUFA9-related disorder remain largely unexplored. To delineate the pheno-genotypic spectrum of NDUFA9-related diso…
View article: Glycine <i>N</i>‐Acyltransferase Deficiency due to a Homozygous Nonsense Variant in the <i>GLYAT</i>: A Novel Inborn Error of Metabolism
Glycine <i>N</i>‐Acyltransferase Deficiency due to a Homozygous Nonsense Variant in the <i>GLYAT</i>: A Novel Inborn Error of Metabolism Open
The enzyme glycine N ‐acyltransferase (GLYAT) plays a crucial role in detoxifying both xenobiotic and endogenous compounds that contain a carboxylic acid group, such as benzoic acid. Data on the impact of human GLYAT on the glycine conjuga…
View article: Overview of genetic variants in a cohort of Iranian patients with leukodystrophy
Overview of genetic variants in a cohort of Iranian patients with leukodystrophy Open
Leukodystrophies are a number of rare genetic disorders that influence the white matter of the brain. The current study aimed to identify the underlying genetic cause of leukodystrophy in 14 Iranian cases, mainly presented by hypomyelinati…
View article: Overview of genetic mutations causing adrenoleukodystrophy: A case-series study
Overview of genetic mutations causing adrenoleukodystrophy: A case-series study Open
View article: Unraveling and Expanding the Genotypic Spectrum of Kabuki Syndrome with Identification of de Novo Protein-Truncating Mutations in the <i>KMT2D</i> Gene: Insights into the Role of Premature Stop Codons in the Etiology of the Disorder
Unraveling and Expanding the Genotypic Spectrum of Kabuki Syndrome with Identification of de Novo Protein-Truncating Mutations in the <i>KMT2D</i> Gene: Insights into the Role of Premature Stop Codons in the Etiology of the Disorder Open
Kabuki Syndrome (KS) is a rare, multisystem congenital disorder with five foremost clinical manifestations encompassing dysmorphic facial characteristics, postnatal growth constraint, craniofacial/skeletal anomalies, mild to moderate intel…
View article: A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies
A survey on mutation spectrum in Iranian patients with limb-girdle muscular dystrophies Open
Limb-girdle muscular dystrophies (LGMD) designate diverse types of muscular dystrophies that predominantly affect proximal skeletal muscles. Although both autosomal recessive and dominant forms exist, the majority of cases are inherited in…
View article: Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients
Spectrum of genetic mutations in methylmalonic aciduria among Iranian patients Open
Methylmalonic aciduria (MMA) is described by high methylmalonic acid concentrations in the blood and urine. This condition can be isolated or in combination with homocystinuria. While variants in the MMUT, MMAA, MMAB, MMADHC and MCEE genes…
View article: Exploring the Genetic Landscape of Knobloch Syndrome: Novel Variant Identification and Literature Review
Exploring the Genetic Landscape of Knobloch Syndrome: Novel Variant Identification and Literature Review Open
Knobloch Syndrome (KS) is a rare genetic disorder characterized by ocular abnormalities and central nervous system (CNS) defects, which are attributed to collagenopathy. The primary gene implicated in KS is COL18A1, which encodes th…
View article: Spectrum of genetic alterations in patients with peroxisome biogenesis defects in the Iranian population: a case series study
Spectrum of genetic alterations in patients with peroxisome biogenesis defects in the Iranian population: a case series study Open
View article: Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases
Clinical and molecular characterization of SLC31A1-related developmental and epileptic encephalopathy: insights from 13 new cases Open
Copper is indispensable for various metabolic processes, notably mitochondrial respiration. In humans, copper homeostasis hinges on transporters such as copper transporter 1 (CTR1), encoded by the SLC31A1 gene. Recently, bi-allelic mutatio…
View article: Clinical Features and Genetic Characteristics of <scp>XLID</scp> Patients With <scp><i>KDM5C</i></scp> Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of a Novel Variant
Clinical Features and Genetic Characteristics of <span>XLID</span> Patients With <span><i>KDM5C</i></span> Gene Mutations: Insights on Phenotype–Genotype Correlations From 175 Previous Cases and Identification of a Novel Variant Open
Background X‐linked intellectual disability (XLID) is a genetically heterogeneous disorder that results in cognitive impairment and developmental delays. Mutations in the KDM5C gene have been identified as a causative factor in XLID. This …
View article: Framework and overview of the Pediatric Spinal Muscular Atrophy Registry Program of Iran
Framework and overview of the Pediatric Spinal Muscular Atrophy Registry Program of Iran Open
Background The Pediatric Spinal Muscular Atrophy Registry Program of Iran (PSMAIR) was established as part of the global TREAT-NMD network, which collects data from spinal muscular atrophy (SMA) patients under 18 years of age in Iran. The …
View article: Whole Exome Sequencing in 11 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet- Biedl Syndrome
Whole Exome Sequencing in 11 Iranian Patients Expands the Mutational and Clinical Spectrum of Bardet- Biedl Syndrome Open
Objective: Bardet-Biedl syndrome (BBS, OMIM 209900) is a rare autosomal recessive disorder characterized by a broad spectrum of clinical features including renal anomalies, learning disabilities, postaxial polydactyly, retinal dystrophy, o…
View article: Novel TECPR2 variant in two cases of hereditary sensory and autonomic neuropathy type 9: insights from genetic characterization and comprehensive literature review
Novel TECPR2 variant in two cases of hereditary sensory and autonomic neuropathy type 9: insights from genetic characterization and comprehensive literature review Open
View article: Altered expression of Csnk1a1p in Autism Spectrum Disorder in Iranian population: case-control study
Altered expression of Csnk1a1p in Autism Spectrum Disorder in Iranian population: case-control study Open
Over the past decade, substantial scientific evidence has showed that long non-coding RNAs (lncRNAs) are extensively expressed and play a crucial role in gene modulation through a diverse range of transcriptional, and post-transcriptional …
View article: Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism
Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism Open
View article: Biallelic null variants in <i>PNPLA8</i> cause microcephaly by reducing the number of basal radial glia
Biallelic null variants in <i>PNPLA8</i> cause microcephaly by reducing the number of basal radial glia Open
Patatin-like phospholipase domain-containing lipase 8 (PNPLA8), one of the calcium-independent phospholipase A2 enzymes, is involved in various physiological processes through the maintenance of membrane phospholipids. Biallelic variants i…
View article: Expanding genetic and clinical aspects of Schwartz-Jampel syndrome: A report of two cases with literature review
Expanding genetic and clinical aspects of Schwartz-Jampel syndrome: A report of two cases with literature review Open
Schwartz-Jampel syndrome (SJS) is a rare autosomal recessive disorder characterized by muscle stiffness (myotonia) and chondrodysplasia. This disease is caused by biallelic loss of function mutations in the HSPG2 gene, which encodes…
View article: A Case Report of Parental Germline Mosaicism in the PCDH19 Gene of Two Iranian Siblings
A Case Report of Parental Germline Mosaicism in the PCDH19 Gene of Two Iranian Siblings Open
This is the first report of germline mosaicism in the PCDH19 gene in the Iranian population and expanded the phenotypic spectrum of DEE9. Genetic testing has become an effective way of determining the diagnosis. Parental germline mo…
View article: Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disorders
Mutations in EPG5 are associated with a wide spectrum of neurodevelopmental and neurodegenerative disorders Open
Autophagy is a fundamental and evolutionary conserved biological pathway with vital roles in intracellular quality control and homeostasis. The process of autophagy involves the engulfment of intracellular targets by autophagosomes and the…
View article: Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome
Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndrome Open
Collectively, when presented with patients showcasing ataxia, encephalopathy, and basal ganglia necrosis, it is essential to account for thiamine deficiency in light of the potential advantages of prompt intervention. At times, it may be f…
View article: Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review
Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review Open
Background Pontocerebellar hypoplasia is an umbrella term describing a heterogeneous group of prenatal neurodegenerative disorders mostly affecting the pons and cerebellum, with 17 types associated with 25 genes. However, some types of PCH…
View article: Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases
Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative cases Open
Background Cornelia de Lange Syndrome (CdLS) is a rare genetic disorder characterized by a range of physical, cognitive, and behavioral abnormalities. This study aimed to perform a comprehensive review of the literature on CdLS and investi…
View article: Non-coding RNAs as potential therapeutic targets for receptor tyrosine kinase signaling in solid tumors: current status and future directions
Non-coding RNAs as potential therapeutic targets for receptor tyrosine kinase signaling in solid tumors: current status and future directions Open
View article: Novel BRAT1 variant associated with neurodevelopmental disorder with cerebellar atrophy and seizure: Case report and a literature review
Novel BRAT1 variant associated with neurodevelopmental disorder with cerebellar atrophy and seizure: Case report and a literature review Open
The BRAT1 gene plays a crucial role in RNA metabolism and brain development, and mutations in this gene have been associated with neurodevelopmental disorders. The variability in the clinical presentation of BRAT1-related dis…
View article: BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients
BRAT1–related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients Open
View article: Biallelic null variants in<i>PNPLA8</i>cause microcephaly through the reduced abundance of basal radial glia
Biallelic null variants in<i>PNPLA8</i>cause microcephaly through the reduced abundance of basal radial glia Open
PNPLA8, one of the calcium-independent phospholipase A2 enzymes, is involved in various physiological processes through the maintenance of membrane phospholipids. However, little is known about its role in brain development. Here, we repor…
View article: Human germline heterozygous gain-of-function <i>STAT6</i> variants cause severe allergic disease
Human germline heterozygous gain-of-function <i>STAT6</i> variants cause severe allergic disease Open
STAT6 (signal transducer and activator of transcription 6) is a transcription factor that plays a central role in the pathophysiology of allergic inflammation. We have identified 16 patients from 10 families spanning three continents with …