Background: The genetic causes of nonsyndromic ovarian insufficiency are largely unknown. A nuclear receptor, NR5A1 (also called steroidogenic factor 1), is a key transcriptional regulator of genes involved in the hypothalamic–pituitary–steroidogenic axis. Mutation of NR5A1 causes 46,XY disorders of sex development, with or without adrenal failure, but growing experimental evidence from studies...

The Booroola fecundity gene (FecB) and growth differentiation factor 9 (GDF9) gene belong to the transforming growth factor β (TGF-β) superfamily. The mutations of these genes have additive effects on the prolificacy in sheep. The aim of the present study was to determine the possible mutations of FecB and FecGH genes in Lory sheep breed of the Lorestan province, Iran. Sixty...

Background: Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing mutations in‌ an Iranian population. Methods: In this study, we examined 31 patients for TSD-causing m...

background: mitochondria are autonomous cellular organelles that oversee a variety of functions such as metabolism, energy production, calcium buffering, and cell fate determination. most recently, mitochondrial dysfunction caused by mitochondrial mutations played important roles in the pathogenesis of asthma. however, the frequency of mitochondrial trna mutations in asthma is largely unknown. ...

background: acute myeloid leukaemia (aml) is a cancer of blood-forming cells in bone marrow. c-kit gene is a receptor tyrosine kinase class iii (rtk) that is expressed by early hematopoietic progenitor cells and plays an important role in hematopoietic stem cell proliferation, differentiation and survival. it is known that c-kit is a proto-oncogene and the activating c-kit mutations are likely ...

background: in 1997 mmac1 or the pten gene, was identified as a tumor suppressor gene on the long arm of chromosome 10.pten involves in the balance between proliferation, and differentiation, apoptosis and regulation of angiogenesis, and eventually mutation in this gene causes a strong potential for tumorigenesis cells. this study is the first report of the correlation between pten gene mutatio...

Background and Objective: The drug resistance mutations are key elements in the failure of long-term treatment of Hepatitis B virus (HBV) and human immunodeficiency virus (HIV) infections. The mutation in the YMDD motif in the P gene of HBV is the most critical factor in antiviral drug (especially lamivudine) resistance. This study aimed to assess the YMDD motif and other polymerase gene mutati...

Quinolones are a large and widely consumed class of synthetic drugs. Expanded-spectrum quinolones, like ciprofloxacin are highly effective against Gram-negative bacteria, especially Escherichia coli. In E. coli the major target for quinolones is DNA gyrase. This enzyme is composed of two subunits, GyrA and GyrB encoding by gyrA and gyrB, respectively. Mutations in either of these genes cause qu...