نتایج جستجو برای: dominant genes
تعداد نتایج: 546962 فیلتر نتایج به سال:
Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder. The causative mutation is an expansion of more than 36 CAG repeats in the first exon of IT15 gene. Many studies have shown that the IT15 interacts with several modifier genes to regulate the age at onset (AO) of HD. Our study aims to investigate the implication of CAG expansion and 9 modifiers in the age at onset var...
Autosomal dominant polycystic kidney disease (ADPKD) is characterized by the development of multiple cysts in both kidneys, causing progressive renal failure. By the age of 60 years, about half the patients with ADPKD have end-stage renal disease (ESRD). In Europe and North America, ADPKD is responsible for 5–10% of the patients requiring renal replacement therapy [1]. ADPKD is also characteriz...
production of high rapeseed yield is important in rapeseed breeding programs. with regards to the importance of estimation of general combining ability (gca), specific combining ability (sca), additive and dominance genetic variances, gene action, heterosis and heritability, an experiment was carried out in a 9×9 diallel design. nine parents with 36 crosses were studied in a randomized complete...
Retinitis pigmentosa (RP) has a prevalence of approximately one in 4000; 25%-30% of these cases are autosomal dominant retinitis pigmentosa (adRP). Like other forms of inherited retinal disease, adRP is exceptionally heterogeneous. Mutations in more than 25 genes are known to cause adRP, more than 1000 mutations have been reported in these genes, clinical findings are highly variable, and there...
Supravalvular aortic stenosis (SVAS) may occur as an isolated autosomal dominant trait or as a feature of Williams syndrome. It has been suggested that a defect in calcitonin function may play a role in Williams syndrome. We have excluded calcitonin as a candidate gene for SVAS using a gene specific probe.
Digits in excess of five in the human are anomalous and polydactyly is the term to denote duplication of digite. Polydactyly is the second most common congenital deformity of the hand, only after syndactyly. In the blacks, the incidence is about 1 in 300, and in the whites it is 1 in 3000. The presence of an extra diggit can be inherited as an autosomal dominant trait. Numerous homebox genes ...
Lynch syndrome (LS) is an autosomal dominant genetic condition caused by mutations in the DNA mismatch repair (MMR) genes germline. Colorectal cancer and/or LS-associated are more likely people who carry pathogenic these genes. Cancers of endometrium, small intestine, stomach, pancreas, and biliary tract, ovarian, brain, upper urinary skin among types linked to LS. The criteria for a clinical d...
BACKGROUND Many genes have been reported as harboring autosomal dominant mutations causing retinal dystrophy. As newly available gene panel sequencing and whole exome sequencing will open these genes up to greater scrutiny, we assess the rate of rare coding variation in these genes among unaffected individuals to provide context for variants that will be discovered when clinical subjects are se...
BACKGROUND AND OBJECTIVES Alport syndrome comprises a group of inherited heterogeneous disorders involving CKD, hearing loss, and ocular abnormalities. Autosomal dominant Alport syndrome caused by heterozygous mutations in collagen 4A3 and/or collagen 4A4 accounts for <5% of patients. However, the clinical, genetic, and pathologic backgrounds of patients with autosomal dominant Alport syndrome ...
Objective(s): Granular and lattice corneal dystrophies (GCDs & LCDs) are autosomal dominant inherited disorders of the cornea. Due to genetic heterogeneity and large genes, unraveling the mutation is challenging.Materials and Methods: Patients underwent comprehensive clinical examination, and targeted next-generation sequencing (NGS) was...
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