نتایج جستجو برای: nphs2 protein

تعداد نتایج: 1234819  

2017
Shatha Hussain Ali Rasha Kasim Mohammed Hussein Ali Saheb Ban A Abdulmajeed

Background. The polymorphism R229Q is one of the most commonly reported podocin sequence variations among steroid-resistant nephrotic syndromes (SRNS). Aim of the Study. We investigated the frequency and risk of this polymorphism among a group of Iraqi children with SRNS and steroid-sensitive nephrotic syndrome (SSNS). Patients and Methods. A prospective case control study which was conducted i...

Journal: :Journal of the American Society of Nephrology : JASN 2004
Patrick Niaudet

Idiopathic nephrotic syndrome (INS) is the most frequent glomerular disease in childhood. Most of the children respond to corticosteroid therapy whereas 10% of them fail to respond to this treatment. They are at risk of extrarenal complications of the nephrotic syndrome and may develop end-stage renal disease, which occurs in up to 50% of white children after a follow-up of 5 yr and 80% of Afri...

2015
Noritoshi Enatsu Hideaki Miyake Koji Chiba Masato Fujisawa

Nephrin and podocin are known to be closely related to the pharmacological effects of angiotensin-II receptor blocker (ARB). The objectives of this study were to investigate the role of nephrin and podocin using cisplatin-induced testicular damage and to evaluate the effect of ARB. At first, we evaluated the effects of cisplatin either alone or in combination with ARB candesartan on changes in ...

2014
Praveen B Shankar Ritambhra Nada Kusum Joshi Ashwani Kumar Charan Singh Rayat Vinay Sakhuja

BACKGROUND Podocytes can be the primary site of injury or secondarily involved in various protienuric states. Cross talk between adjacent foot processes and with basement membrane is important for slit diaphragm function. Does expression of podocyte associated proteins in kidney biopsies alter with site/type of primary injury? Genetic mutations of podocin result in steroid resistant FSGS. Can p...

Journal: :Journal of rare disease research & treatment 2022

Introduction: Focal segmental glomerulosclerosis (FSGS) can be caused by mutations in the genes NPHS2, ACTN4, TRPC6, and INF2 among others, presenting variable levels of proteinuria, including nephrotic syndrome, that frequently progress to end-stage renal disease (ESRD). The establishment genotype-phenotype correlation expressed podocyte could contribute understanding their role FSGS decision-...

2013
Yonghui Xia Jianhua Mao Xia Jin Wenjing Wang Lizhong Du Aimin Liu

OBJECTIVES Familial steroid-sensitive idiopathic nephrotic syndrome is rare, and only approximately 3% of patients have affected siblings. METHODS Herein, we report seven cases of patients with steroid-sensitive idiopathic nephrotic syndrome from three Chinese families. Mutational screening of the Nphs2 gene was performed in all the patients. RESULTS All seven of the familial steroid-sensit...

Journal: :Journal of the American Society of Nephrology : JASN 2003
Gi Dong Han Hiroko Koike Takeshi Nakatsue Kenji Suzuki Hiroyuki Yoneyama Shosaku Narumi Naoto Kobayashi Peter Mundel Fujio Shimizu Hiroshi Kawachi

IFN-inducible protein-10 (IP-10/CXCL10) is a potent chemoattractant for activated T lymphocytes and was recently reported to have several additional biologic activities. In this study, the expression and the function in normal glomeruli and in Thy1.1 glomerulonephritis (GN) were investigated. The expression of IP-10 was detected in normal rat glomeruli mainly in the podocyte. The expression of ...

ژورنال: :مجله دانشگاه علوم پزشکی شهید صدوقی یزد 0
لیلا اسماعیلی چمگردانی l esmaili chamgordani department of genetics, faculty of science, university of isfahan, isfahan, iranبخش ژنتیک، گروه زیست شناسی، دانشکده علوم، دانشگاه اصفهان علی جزایری a jazayeri department of genetics, faculty of science, university of isfahan, isfahan, iranبخش ژنتیک، گروه زیست شناسی، دانشکده علوم، دانشگاه اصفهان صادق ولیان بروجنی s vallian borujeni department of genetics, faculty of science, university of isfahan, isfahan, iranبخش ژنتیک، گروه زیست شناسی، دانشکده علوم، دانشگاه اصفهان

مقدمه: سندرم نفروتیک یک بیماری ژنتیکی می باشد و به گروه بیماری های هتروژنی گلومرولی تعلق دارد که عمدتاً در کودکان اتفاق می افتد. بررسی پیوستگی با استفاده از مارکرهای چندشکلی تک نوکلئوتیدی(snp) برای مطالعه مولکولی بیماری، به عنوان یک روش غیرمستقیم بکار می رود. در پایگاه های داده موجود تعداد زیادی از مارکرهای snp در ژن nphs2 معرفی شده است. روش بررسی: در مطالعه حاضر وضعیت ژنوتیپی و همچنین اطلاع دهن...

2013
Markus Gödel Benjamin N. Ostendorf Jessica Baumer Katrin Weber Tobias B. Huber

Mutations in the gene NPHS2 are the most common cause of hereditary steroid-resistant nephrotic syndrome. Its gene product, the stomatin family member protein podocin represents a core component of the slit diaphragm, a unique structure that bridges the space between adjacent podocyte foot processes in the kidney glomerulus. Dislocation and misexpression of slit diaphragm components have been d...

Journal: :Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association 2007
Masahiro Aoyama Toshiro Sugimoto Tomonobu Yokono Masayoshi Sakaguchi Naoko Deji Takashi Uzu Atsunori Kashiwagi

great majority of our patients presented the same 419delG mutation that also produce a truncate protein, and may be comparable with the above defect. Lack of heart defects in the majority of our patients lessens the likelihood of the podocin protein defect being associated with cardiac defects. We suggest re-evaluation of the association, because it cannot be excluded that in the Frishberg stud...

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