نتایج جستجو برای: x gene mutations
تعداد نتایج: 1789763 فیلتر نتایج به سال:
Background and Objective: Duchenne Muscular Dystrophy(DMD) is a neuromuscular disorder with progressive muscle wasting and weakness. This disease is the consequence of mutations in dystrophin gene located on X chromosome. Inheritance pattern of the disease is gene-dependent recessive with an incidence of one in 3500 alive male newborns. Due to the absence of efficient treatment, detection of fe...
We study compact non-supersymmetric Z N orbifolds in various dimensions. We compute the spectrum of several tachyonic type II and heterotic examples and partially classify tachyon-free heterotic models. We also discuss the relation to compactification on K3 and Calabi-Yau manifolds.
Objective: Identity the genetic aspects and major gene influence on energy balance, milk production, fertility, food safety and consumer are the recent interests of genetic and breeding researchers. Methods: Najdi Cattle is the most prominent breeds in Khuzestan province. To do this plan in Shoushtar Najdi Cattle Station, blood samples were taken from 15 Najdi Cattles. DNA was extracted from wh...
aim : the aim of the current investigation was to examine the profile of kras mutations accompanied with msi (microsattelite instability) status in polyps and colorectal carcinoma tissues in an iranian population. background : kras mutations in colorectal cancer cause resistance to anti-epidermal growth factor receptor (egfr). so it can be considered as a true indicator of egfr pathway activati...
Aim and Background: Candida Albicans is the most important cause of vulvovaginal candidiasis and resistance to azoles can occur via various mechanisms including, change in the ERG11 gene. This study aim was to identification of ERG11 gene mutations in drug resistant Candida albicans isolated from patients with Candida vaginitis and its association with infertility in Iranian women. Mat...
Abstract Background: Sensorineural hearing loss is one of the most common defects and half the cases are related to genetic factors. Given the importance of GJB2 mutations in hearing loss, this study was performed to study the impact of this mutation on hearing loss in selected families suffering from deafness. Materials and Methods: A descriptive study was performed on 8 GJB2 heterozygous ...
Polymerase gamma is a mitochondrial DNA polymerase, that responsible for the replication of (mtDNA). It encoded by POLG gene, on chromosome 15q25. Various mutations in this gene have been described, with varied phenotypic manifestations. The triad sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO) has reported only small group patients mutations. We report case male, who presen...
X-linked adrenoleukodystrophy (X-ALD) affects the nervous system white matter and adrenal cortex secondary to mutations in the ABCD1 gene that encode the peroxisomal membrane protein. We conducted a genomic and protein expression study of susceptibility gene with its clinical and biochemical analysis. To the best of our knowledge this is the first preliminary comprehensive study in Indian popul...
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