Heparan N-sulfatase gene: two novel mutations and transient expression of 15 defects
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چکیده
منابع مشابه
Identification of Two Novel Mutations in KDM3A Regulatory Gene in Iranian Infertile Males
Background: KDM3A is a key epigenetic regulator that is expressed in the testis and is required for packaging and condensation of sperm chromatin. To this point, the association of the KDM3A gene and infertility has not been studied in human. The aim of this study was to screen any new mutation in KDM3A gene to explore more details of human male infertility. Methods: In this work, 150 infertile...
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Mutations in the insulin receptor gene cause the inherited insulin resistant syndromes Leprechaunism and Rabson-Mendenhall syndrome. These recessive conditions are characterized by intrauterine and post-natal growth restrictions, dysmorphic features, altered glucose homeostasis, and early demise. The insulin receptor gene (INSR) maps to the short arm of chromosome 19 and is composed of 22 exons...
متن کاملfirst report of two novel mutations in alpha sarcoglycan gene in two iranian families with lgmd
the sarcoglycanopathies (sgps) are a subgroup of autosomal recessive limb girdle muscular dystrophies (lgmds). they are caused by mutations in gamma, alpha, beta, and delta sarcoglycans (sgs) genes. alpha-sgps are the most frequent form of sgps. muscle biopsy studies in patients with sarcoglycanopathies have indicated that loss of one sg subunit leads to instability of whole sg complex. autozy...
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Objective(s) The mitochondrial defects in Friedreich's ataxia have been reported in many researches. Mitochondrial DNA is one of the candidates for defects in mitochondrion, and complex I is the first and one of the largest catalytic complexes of oxidative phosphorylation (OXPHOS) system. Materials and Methods We searched the mitochondrial ND4L gene for mutations by TTGE and sequencing on 30...
متن کاملTransient Expression Assay of Aγ-588 (A/G) Mutations in the K562 Cell Line
Background: In the previous study, we have shown that the presence of A allele at position -588 in Aγ-globin gene was highly frequent and closely associated with fetal hemoglobin elevation among β-thalassemia intermedia patients. Therefore, we decided to investigate whether this allele (A allele at -588) could result in an increase in Aγ-globin gene expression to ameliorate the severity of the ...
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ژورنال
عنوان ژورنال: Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease
سال: 2000
ISSN: 0925-4439
DOI: 10.1016/s0925-4439(99)00118-0