نتایج جستجو برای: x gene mutations
تعداد نتایج: 1789763 فیلتر نتایج به سال:
To understand the mutations and genetic rearrangements that allow rabies virus infections of new hosts and adaptation in nature, the quasispecies structure of the nucleoprotein and glycoprotein genes as well as two noncoding sequences of a rabies virus genome were determined. Gene sequences were obtained from the brain and from the salivary glands of the original host, a naturally infected Euro...
Hereditary hearing loss (HHL) comprises half of the congenital deafness which arises from genetic mutations. Mutations in the TJP2 gene, encoding tight junction protein 2, are one of the gene alterations in HHL resulting in an autosomal dominant nonsyndromic form of the disease. An 11-year-old male patient with clinically approved congenital hearing loss was referred to our laboratory....
Wilson disease is a metabolic disorder with an autosomal recessive genetic pattern and occurs in 1-4 of every 100000 individuals. Inactivation of the ATP7B gene leads to accumulation of the toxic copper to liver and brain causing hepatic and neurological complication. Therefore, most patients suffer from chronic hepatic inflammation and central nervous system disorder. Nowadays, up to ...
AIM To correlate the phenotype of X linked congenital stationary night blindness (CSNBX) with genotype. METHODS 11 CSNB families were diagnosed with the X linked form of the disease by clinical evaluation and mutation detection in either the NYX or CACNA1F gene. Phenotype of the CSNBX patients was defined by clinical examination, psychophysical, and standardised electrophysiological testing. ...
Background: In various cancers, Ganoderic Acid A (GAA), an active triterpenoid derived from Ganoderma Background: Thalassemia refers to a category of inherited disorders resulting from defects in synthesizing one or several chains of hemoglobin (Hb). The present study aimed to determine the frequency of alpha and beta-thalassemia mutations in Kurdistan province, Iran. Materials and Methods: In...
this study was conducted to detect polymorphism of gene bmp15, a member of transforming growthfactor β (tgfβ) family which has a crucial role in controlling the ovarian follicles development,ovulation rate and fertility. samples were randomly selected from 91 najdi goats in 3 geographicallocations, northwest, southeast and center of khuzestan province. after dna extraction, amplification of235 ...
BACKGROUND X-linked Charcot-Marie-Tooth type 1 disease has been associated with 280 mutations in the GJB1 [gap junction protein, beta 1, 32 kDa (connexin 32, Charcot-Marie-Tooth neuropathy, X-linked)] gene. High-resolution melting analysis with an automated instrument can be used to scan DNA for alterations, but its use in X-linked disorders has not been described. METHODS A 96-well LightScan...
background: the most frequently mutated tumor suppressor gene found in human cancer is p53. in a normal situation, p53 is activated upon the induction of dna damage to either arrest the cell cycle or to induce apoptosis. however, when mutated, p53 is no longer able to properly accomplish these functions. the aim of this study was to investigate the expression of p53 gene in cases of skin cancer...
objective(s): haemostasis prevents blood loss following vascular injury. it depends on the unique concert of events involving platelets and specific blood proteins, known as coagulation factors. the clotting system requires precise regulation and coordinated reactions to maintain the integrity of the vasculature. clotting insufficiency mostly occurs due to genetically inherited coagulation fact...
Distribution of mutations in the PEX gene in families with X-linked hypophosphataemic rickets (HYP).
Mutations in the PEX gene at Xp22.1 (phosphate-regulating gene with homologies to endopeptidases, on the X-chromosome), are responsible for X-linked hypophosphataemic rickets (HYP). Homology of PEX to the M13 family of Zn2+ metallopeptidases which include neprilysin (NEP) as prototype, has raised important questions regarding PEX function at the molecular level. The aim of this study was to ana...
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