نتایج جستجو برای: exon

تعداد نتایج: 23935  

Journal: :iranian biomedical journal 0
آتوسا حفیظی atousa hafizi سعیدرضا خاتمی saeid reza khatami حمید گله داری hamid galehdari غلامرضا شریعتی gholamreza shariati علی حسین صابری ali hossein saberi محمد حمید mohammad hamid

introduction: autosomal dominant polycystic kidney disease (adpkd) is one of the most common genetic kidney disorders with the incidence of 1 in 1,000 births. adpkd is genetically heterogeneous with two genes identified: pkd1 (16p13.3, 46 exons) and pkd2 (4q21, 15 exons). eighty five percent of the patients with adpkd have at least one mutation in the pkd1 gene. genetic studies have demonstrate...

A. Ahmadi, A. Farahavar F. Afraz R. Talebi S.M.F. Vahidi

Utilization of fecundity genes such as GDF9 and BMP15 can help improve reproductive traits in sheep breeding programme. To evaluate effects of missense mutations on protein function, the polymorphisms of GDF9 and BMP15 genes were screened in twelve mehraban sheep using DNA sequencing, followed by protein structure modeling. Six single nucleotide polymorphism (SNPs) known as FecG mutations (G1-G...

هاشمی سوته , سیدمحمدباقر, گودیو , آن,

Background and purpose: Von Willebrand Disease (VWD) type 1, is the most common inherited bleeding disorder caused by defect in Von Willebrand Factor (VWF) gene with 178000 nucleotide length. Different methods are available to detect unknown mutations in a genetic study. The fluorescent conformation sensitive gel electrophoresis (F-CSGE) was designed for the VWF gene by using fluorescent dyes...

Journal: :Bionatura (Ibarra - Impresa) 2022

TP53 gene plays a critical role in the follow-up of different cancer cases, including diagnosis and treatment mutation P53 gene. It harms encoded protein less function types due to has many mechanisms eliminate cells, like apoptosis, cell cycle arrest, DNA repair. This study aims detect abnormality change sequence correlation with Mosul city extraction depends on manual description from blood, ...

Journal: :PLOS ONE 2021

Nidoviruses and arenaviruses are the only known RNA viruses encoding a 3’-5’ exonuclease domain (ExoN). The proofreading activity of ExoN has played key role in growth nidoviral genomes, while this partakes suppression host innate immune signaling. Sequence structural homology analyses suggest that these proteins have been hijacked from cellular hosts many times. Analysis available sequences re...

Background: Non-dystrophy myotonias (NDMs) have similar clinical signs of muscle weakness and congenital myotoniais typical example. This disease is caused by mutations in CLCN1 gene. CLCN1 gene has 23 exons and exon 8 is hotspot. Mutations in skeletal muscle chloride channel gene are associated with a group of clinically overlapping diseases by alterations in the excitability of the sarcolemma...

Chymosin (Rennin EC 3.4.23.4), an aspartyl proteinase, is the major proteolytic enzyme in the fourthstomach of the unweaned calf, and it is formed by proteolytic activation of its zymogene, prochymosin.Following the cloning of synthesized cDNAs on mRNA pools extracted from the mucosa of the calf fourthstomach, we have identified an alternatively spliced form of preprochymosin ...

Journal: :Neuron 2004
Jian Wang Xiaojun Ma Jacob S. Yang Xiaoyan Zheng Christopher T. Zugates Ching-Hsien J. Lee Tzumin Lee

Besides 19,008 possible ectodomains, Drosophila Dscam contains two alternative transmembrane/juxtamembrane segments, respectively, derived from exon 17.1 and exon 17.2. We wondered whether specific Dscam isoforms mediate formation and segregation of axonal branches in the Drosophila mushroom bodies (MBs). Removal of various subsets of the 12 exon 4s does not affect MB neuronal morphogenesis, wh...

 Background: Spinal muscular atrophy (SMA) is the second most common lethal autosomal recessive disease. It is a neuromuscular disorder caused by degenerative of lower motor neurons and occasionally bulbar neurons leading to progressive limb paralysis and muscular atrophy. The SMN1 gene is recognized as a SMA causing gene while NAIP has been characterized as a modifying factor for the clinical ...

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