نتایج جستجو برای: exon deletion
تعداد نتایج: 99871 فیلتر نتایج به سال:
Background and Objectives: The neuromuscular degenerative disorder, known as spinal muscular atrophy (SMA), is a common fatal disease in neonates. In most patients with SMA, exon 7 and/or exon 8 of SMN1 gene is deleted. It is reported that the deletion of exon 5 from NAIP gene may be involved in the severity of SMA disease. The present study was aimed to evaluate the genotype- phenotype correla...
Polymorphisms in 5’-flanking region of prolactin (PRL), exon 2 and exon 5 of prolactin receptor (PRLR) genesand its association with growth and egg traits were examined in breeder hens of Mazandaran native fowlsbreeding station. A single nucleotide polymorphism at site C-2402T and a 24 bp nucleotide sequence insertionat situation -382 in 5’-flanking regions of PRL gene were id...
background: despite the genetic heterogeneity reported in familial als (fals), sod1 gene mutations are the most frequent cause of fals, accounting for around 20% of familial cases (als1) and isolated sporadic cases. mutant forms of sod1 exhibit toxicity that promotes the death of motor neurons. it is well documented that fals produces protein aggregates in the motor neurons of fals patients, wh...
Background: Pre-eclampsia is a multifactorial pregnancy specific vascular disorder characterized by hypertension and proteinuria. It affects around 3-5% pregnancies worldwide. The aetiology and pathophysiology of PE remain poorly understood. But it is generally accepted defective placentation during the early stage of pregnancy most likely in combination with maternal and environmental factors ...
Background & Objectives: Breast cancer is the most common cancer among women and the second most common cause of cancer death. Genetic factors play an important role in the development of breast cancer. Among these genetic factors, CHEk2 (checkpoint kinase 2) gene, as a tumor suppressor gene, plays a critical role in DNA repair. Germline mutations in CEHK2 result in the loss of this feature. On...
background: haemophilia a (ha) is an x-linked bleeding disorder caused by the absence or reduced activity of coagulation factor viii (fviii). coagulation factors are a group of related proteins that are essential for the formation of blood clots. the aim of this study was to genotype the coagulation factor viii gene mutations using inverse shifting pcr (is-pcr) in an iranian family with severe ...
Background & Aims: Esophageal Cancer is the sixth fatal cancer in the world. Squamous and adenocarcinoma account for 95% of esophageal cancer. The expression of EGFR has a role in the pathophysiology of epidermal-based malignancies such as esophageal cancer. EGFR is also an important criterion in the evaluation of disease staging and prognosis. The aim of this study was to survey the prevalence...
Background & Aim: Mutations in c-kit gene cause autonomously proliferation of leukemic cells with an unfavorable prognosis.These mutations including exon 8 deletion and insertion in the fifth extracellular Ig-like domain and exon 17 point mutation in tyrosine kinase domain of c-kit receptors are important in acute myeloid leukemia. The aim of this study was to set up molecular diagnosis and ...
Background: Ataxia with oculomotor apraxia type 1 (AOA1) shows early onset with autosomal recessive inheritance and is caused by a mutation in the aprataxin (APTX) gene encoding for the APTX protein. Methods: In this study, a 7-year-old girl born of a first-cousin consanguineous marriage was described with early-onset progressive ataxia and AOA, with increased cholesterol concentration and decr...
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