نتایج جستجو برای: clcn1 protein

تعداد نتایج: 1234772  

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه علوم کشاورزی و منابع طبیعی گرگان - دانشکده کشاورزی 1391

در این پژوهش از روش آماری سطح پاسخ جهت بهینه سازی شرایط فرآیند هیدرولیز پروتئین روده و معده ی گوسفند با استفاده از آنزیم آلکالاز (2.4l)، استفاده شد. فاکتورهای مورد بررسی در این تحقیق دما، زمان و نسبت آنزیم به سوبسترا بودند که برای رسیدن به بیشترین میزان درجه هیدرولیز و بازیافت نیتروژن این متغییرها در محدوده ی دمای 52-43 درجه سانتیگراد، زمان 190-65 دقیقه و مقدار آنزیم 95-50 (anson unit/kg protei...

2016
Yi-Jheng Peng Jing-Jia Huang Hao-Han Wu Hsin-Ying Hsieh Chia-Ying Wu Shu-Ching Chen Tsung-Yu Chen Chih-Yung Tang

Mutations in human CLC-1 chloride channel are associated with the skeletal muscle disorder myotonia congenita. The disease-causing mutant A531V manifests enhanced proteasomal degradation of CLC-1. We recently found that CLC-1 degradation is mediated by cullin 4 ubiquitin ligase complex. It is currently unclear how quality control and protein degradation systems coordinate with each other to pro...

2016
Emma Bondy-Chorney Tara E. Crawford Parks Aymeric Ravel-Chapuis Roscoe Klinck Lynda Rocheleau Martin Pelchat Benoit Chabot Bernard J. Jasmin Jocelyn Côté Gregory A. Cox

Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by an expansion of CUG repeats in the 3' UTR of the DMPK gene. The CUG repeats form aggregates of mutant mRNA, which cause misregulation and/or sequestration of RNA-binding proteins, causing aberrant alternative splicing in cells. Previously, we showed that the multi-functional RNA-binding protein Staufen1 (Stau1) was increased ...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1998
F L Mastaglia N Harker B A Phillips T J Day G J Hankey N G Laing V Fabian B A Kakulas

A two generation family of Greek origin with mild myotonia, predominantly proximal muscle weakness, and cataracts compatible with the syndrome of proximal myotonic myopathy, is reported. In addition, brain MRI showed a diffuse leukoencephalopathy in the propositus. Molecular genetic studies showed the R894X mutation in exon 23 of the muscle chloride channel gene in the propositus but in only on...

2011
Laura E. Machuca-Tzili Sarah Buxton Aaran Thorpe Cathy M. Timson Peter Wigmore Pradeep K. Luther J. David Brook

Myotonic dystrophy (DM; also known as dystrophia myotonica) is an autosomal dominant disorder that affects the heart, eyes, brain and endocrine system, but the predominant symptoms are neuromuscular, with progressive muscle weakness and wasting. DM presents in two forms, DM1 and DM2, both of which are caused by nucleotide repeat expansions: CTG in the DMPK gene for DM1 and CCTG in ZNF9 (CNBP) f...

2013
Jeffrey S Simske

The claudin family of integral membrane proteins was identified as the major protein component of the tight junctions in all vertebrates. Since their identification, claudins, and their associated pfam00822 superfamily of proteins have been implicated in a wide variety of cellular processes. Claudin homologs have been identified in invertebrates as well, including Drosophila and C. elegans. Rec...

Journal: :Acta anaesthesiologica Scandinavica 2013
K Hoppe F Lehmann-Horn S Chaiklieng K Jurkat-Rott O Adolph W Klingler

BACKGROUND A common form of congenital myotonia, myotonia congenita (MC), is caused by mutations in the skeletal muscle Cl(-) channel gene type 1 (CLCN1). Due to the reduced Cl(-) conductance of the mutated channels, the patients may develop generalized muscle rigidity and hypermetabolism during general anaesthesia. The clinical symptoms resemble malignant hyperthermia (MH), which may lead to m...

Journal: :Animal : an international journal of animal bioscience 2014
C T Meira R A Curi M M Farah H N de Oliveira N A R Béltran J A V Silva M D S da Mota

Selection of Quarter Horses for different purposes has led to the formation of lines, including racing and cutting horses. The objective of this study was to identify genomic regions divergently selected in racing line of Quarter Horses in relation to cutting line applying relative extended haplotype homozygosity (REHH) analysis, an extension of extended haplotype homozygosity (EHH) analysis, a...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه فردوسی مشهد - دانشکده کشاورزی 1391

بعضی از استرین‏های تریکودرما به عنوان عوامل کنترل بیولوژیک بر علیه بیمارگر‏های گیاهی استفاده شده است. توانائی گونه‏های تریکودرما جهت کلونیزه کردن و استقرار یافتن در ریزوسفر یک نیاز ضروری برای آن‏هاست که قادر باشند بیمارگر‏های ریشه را کنترل کنند، مقاومت گیاهی را القاء کنند و رشد گیاهی را افزایش دهند. شناسائی ژن‏هائی از تریکودرما که بیان آن‏ها در طول مراحل اولیه‏ی برهمکنش با ریشه‏های در حال توسعه...

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