نتایج جستجو برای: ژن ctns

تعداد نتایج: 15923  

Journal: : 2023

زمینه و هدف: کم‌تحرکی در مقابل آن تمرین جزء عوامل مرتبط با شاخص‌های آسیب کبدی به‌شمار می‌روند. وجود این هنوز نقش بسیاری از تمرین‌های ورزشی به‌ویژه تمرینات تناوبی مقاومتی مصرف برخی مکمل‌های غذایی جمله اسپیرولینا بر ایمنی التهابی کاملاٌ شناخته نشده است؛ بنابراین هدف پژوهش تعیین اثر هشت هفته مکمل‌دهی هوازی فعالیت بافت کبد بیان ژن CXCL1 عضلة موش‌های صحرایی نر بود.مواد روش‌ها: نیمه‌تجربی، 60 سر موش ن...

Journal: :Eukaryotic cell 2011
Haifeng Zhang Chaoyang Xue Lingan Kong Guotian Li Jin-Rong Xu

In the rice blast fungus Magnaporthe oryzae, the PMK1 mitogen-activated protein (MAP) kinase gene regulates appressorium formation and infectious growth. Its homologs in many other fungi also play critical roles in fungal development and pathogenicity. However, the targets of this important MAP kinase and its interacting genes are not well characterized. In this study, we constructed two yeast ...

2015
Ekaterina A. Ivanova Maria Giovanna De Leo Lambertus Van Den Heuvel Anna Pastore Henry Dijkman Maria Antonietta De Matteis Elena N. Levtchenko

Nephropathic cystinosis is a lysosomal storage disorder caused by mutations in the CTNS gene encoding cystine transporter cystinosin that results in accumulation of amino acid cystine in the lysosomes throughout the body and especially affects kidneys. Early manifestations of the disease include renal Fanconi syndrome, a generalized proximal tubular dysfunction. Current therapy of cystinosis is...

Journal: :Journal of the American Society of Nephrology : JASN 2015
Poonam Sansanwal Li Li Minnie M Sarwal

Nephropathic cystinosis, characterized by accumulation of cystine in the lysosomes, is caused by mutations in CTNS. The molecular and cellular mechanisms underlying proximal tubular dysfunction and progressive renal failure in nephropathic cystinosis are largely unclear, and increasing evidence supports the notion that cystine accumulation alone is not responsible for the end organ injury in cy...

Journal: :Journal of the American Society of Nephrology : JASN 2017
Asaf Vivante Daw-Yang Hwang Stefan Kohl Jing Chen Shirlee Shril Julian Schulz Amelie van der Ven Ghaleb Daouk Neveen A Soliman Aravind Selvin Kumar Prabha Senguttuvan Elijah O Kehinde Velibor Tasic Friedhelm Hildebrandt

Congenital anomalies of the kidneys and urinary tract (CAKUT) are the leading cause of CKD in children, featuring a broad variety of malformations. A monogenic cause can be detected in around 12% of patients. However, the morphologic clinical phenotype of CAKUT frequently does not indicate specific genes to be examined. To determine the likelihood of detecting causative recessive mutations by w...

Journal: :The Journal of biological chemistry 2001
S Cherqui V Kalatzis G Trugnan C Antignac

Cystinosis is a lysosomal transport disorder characterized by an accumulation of intra-lysosomal cystine. Biochemical studies showed that the lysosomal cystine transporter was distinct from the plasma membrane cystine transporters and that it exclusively transported cystine. The gene underlying cystinosis, CTNS, encodes a predicted seven-transmembrane domain protein called cystinosin, which is ...

Journal: :European review for medical and pharmacological sciences 2018
J Yi Y An

OBJECTIVE Previous studies have demonstrated that microRNA-379 (miR-379) was involved in regulating cell proliferation. The present study aimed to investigate its potential role in the diagnosis of cute myocardium infarction (AMI). PATIENTS AND METHODS Plasma samples from 30 patients with AMI and 30 healthy adults (non-AMI controls) were collected. The abundance of circulating miR-379 was det...

2016
Mohamed A. Elmonem Koenraad R. Veys Neveen A. Soliman Maria van Dyck Lambertus P. van den Heuvel Elena Levtchenko

Cystinosis is the most common hereditary cause of renal Fanconi syndrome in children. It is an autosomal recessive lysosomal storage disorder caused by mutations in the CTNS gene encoding for the carrier protein cystinosin, transporting cystine out of the lysosomal compartment. Defective cystinosin function leads to intra-lysosomal cystine accumulation in all body cells and organs. The kidneys ...

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