Hossein Jafari Khamirani
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View article: Novel Insights into Pontocerebellar Hypoplasia Type 3: Discovery of a New Disease-causing PCLO Variant and Development of a CRISPR-generated Cell Model
Novel Insights into Pontocerebellar Hypoplasia Type 3: Discovery of a New Disease-causing PCLO Variant and Development of a CRISPR-generated Cell Model Open
Background: Pathogenic variations in the PCLO gene cause Pontocerebellar Hypoplasia type 3 (PCH3), an extremely rare autosomal recessive disease characterized by seizure, intellectual disability, developmental delay, and microcephaly. PCLO…
View article: Jaberi-Elahi syndrome: Exploring a novel GTPBP2 mutation and a literature review
Jaberi-Elahi syndrome: Exploring a novel GTPBP2 mutation and a literature review Open
Jaberi-Elahi syndrome is an extremely rare genetic disease caused by pathogenic variants in GTPBP2. The core symptoms of this disease are intellectual disability, motor development delay, abnormal reflexes, skeletal abnormalities, and visu…
View article: Novel insight into <i>FCSK</i>‐congenital disorder of glycosylation through a <scp>CRISPR</scp>‐generated cell model
Novel insight into <i>FCSK</i>‐congenital disorder of glycosylation through a <span>CRISPR</span>‐generated cell model Open
Background FCSK ‐congenital disorder of glycosylation (FCSK‐CDG) is a recently discovered rare autosomal recessive genetic disorder with defective fucosylation due to mutations in the fucokinase encoding gene, FCSK . Despite the essential …
View article: Two siblings with PEX11B-related peroxisome biogenesis disorder
Two siblings with PEX11B-related peroxisome biogenesis disorder Open
The PEX11β gene contains four exons and encodes peroxisomal membrane protein 11β, which is involved in peroxisome proliferation and division. Pathogenic variants in this gene result in a rare genetic disorder with autosomal recessive inher…
View article: A Form of Metabolic-Associated Fatty Liver Disease Associated with a Novel LIPA Variant
A Form of Metabolic-Associated Fatty Liver Disease Associated with a Novel LIPA Variant Open
Background: The LIPA gene on chromosome 10q23.31 contains 10 exons and encodes lipase A, the lysosomal acid lipase (LAL) containing 399 amino acids. Pathogenic variants in the LIPA result in autosomal recessive Wolman disease and cholester…
View article: EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review
EPS8 variant causes deafness, autosomal recessive 102 (DFNB102) and literature review Open
Pathogenic variants in the EPS8 gene result in nonsyndromic hearing loss. This gene encodes the EPS8 protein in cochlear inner hair cells and performs critical roles in stimulating actin polymerization and bundling. Thus far, only four pat…
View article: A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease
A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease Open
Patient variants in Tubby Like Protein-3 (TULP3) have recently been associated with progressive fibrocystic disease in tissues and organs. TULP3 is a ciliary trafficking protein that links membrane-associated proteins to the intraflagellar…
View article: Recurrent Infections and Immunodeficiency Caused by Severe Pancytopenia Associated with a Novel Life-Threatening Mutation in Hypoxia-Upregulated Protein 1
Recurrent Infections and Immunodeficiency Caused by Severe Pancytopenia Associated with a Novel Life-Threatening Mutation in Hypoxia-Upregulated Protein 1 Open
HYOU1 encodes a protein from the endoplasmic reticulum chaperone proteins, expressed to protect cellular mechanisms from stress such as hypoxia, insufficient energy and excessive or insufficient substances, and to restore cell homeo…
View article: Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review
Clinical Features of Okur-Chung Neurodevelopmental Syndrome: Case Report and Literature Review Open
Introduction: Autosomal dominant pathogenic variations in the CSNK2A1 gene cause Okur-Chung neurodevelopmental syndrome (OCNDS). Methods: The proband and her parents were examined thoroughly and observed …
View article: Recurrent Infections and Immunodeficiency Caused by Severe Pancytopenia Associated with a Novel Life-Threatening Mutation in Hypoxia-Upregulated Protein 1
Recurrent Infections and Immunodeficiency Caused by Severe Pancytopenia Associated with a Novel Life-Threatening Mutation in Hypoxia-Upregulated Protein 1 Open
HYOU1 encodes a protein from the endoplasmic reticulum chaperone proteins, expressed to protect cellular mechanisms from stress such as hypoxia, insufficient energy and excessive or insufficient substances, and to restore cell homeo…
View article: Development of a Serial Dilution Technique for Obtaining Monoclonal Cell Populations
Development of a Serial Dilution Technique for Obtaining Monoclonal Cell Populations Open
Single cell-based techniques have drawn the attention of researchers, because they provide invaluable information of various domains ranging from genomics to epigenetics, transcriptomics, and proteomics. Single cell-derived clones provide …
View article: Correction: A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): a case report
Correction: A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): a case report Open
View article: Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1
Two novel Warburg micro syndrome 1 cases caused by pathogenic variants in RAB3GAP1 Open
View article: Analysis of DYRK1B, PPARG, and CEBPB Expression Patterns in Adipose-Derived Stem Cells from Patients carrying DYRK1B R102C and Healthy Individuals During Adipogenesis
Analysis of DYRK1B, PPARG, and CEBPB Expression Patterns in Adipose-Derived Stem Cells from Patients carrying DYRK1B R102C and Healthy Individuals During Adipogenesis Open
Background Metabolic syndrome (MetS) is a group of signs and symptoms that are associated with higher risk of Type 2 Diabetes Mellitus (T2DM) and Cardiovascular Diseases (CVDs). The major risk factor for developing MetS is abdominal obesit…
View article: A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report
A novel frameshift pathogenic variant in ST3GAL5 causing salt and pepper developmental regression syndrome (SPDRS): A case report Open
View article: A single-amino-acid in-frame deletion in CYP17A1 results in combined 17-hydroxylase and 17,20-lyase deficiency in an Iranian family despite the protein mutation site
A single-amino-acid in-frame deletion in CYP17A1 results in combined 17-hydroxylase and 17,20-lyase deficiency in an Iranian family despite the protein mutation site Open
View article: A novel PTRH2 missense mutation causing IMNEPD: a case report
A novel PTRH2 missense mutation causing IMNEPD: a case report Open
View article: An Analysis of Inhibition of the Severe Acute Respiratory Syndrome Coronavirus 2 RNA-dependent Rna Polymerase By Zinc Ion: an <i>in silico</i> Approach
An Analysis of Inhibition of the Severe Acute Respiratory Syndrome Coronavirus 2 RNA-dependent Rna Polymerase By Zinc Ion: an <i>in silico</i> Approach Open
Background: Coronavirus disease 2019 is caused by exposure to severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). It was reported that Zn(2+) is an inhibitor of severe acute respiratory syndrome coronavirus (SARS-CoV). We hypothe…