نتایج جستجو برای: gene vsx1

تعداد نتایج: 1141387  

Journal: :American journal of human genetics 2005
Charles M Krafchak Hemant Pawar Sayoko E Moroi Alan Sugar Paul R Lichter David A Mackey Shahzad Mian Theresa Nairus Victor Elner Miriam T Schteingart Catherine A Downs Theresa Guckian Kijek Jenae M Johnson Edward H Trager Frank W Rozsa Md Nawajes Ali Mandal Michael P Epstein Douglas Vollrath Radha Ayyagari Michael Boehnke Julia E Richards

Posterior polymorphous corneal dystrophy (PPCD, also known as PPMD) is a rare disease involving metaplasia and overgrowth of corneal endothelial cells. In patients with PPCD, these cells manifest in an epithelial morphology and gene expression pattern, produce an aberrant basement membrane, and, sometimes, spread over the iris and nearby structures in a way that increases the risk for glaucoma....

Journal: :Reproductive system & sexual disorders : current research 2012
Joshua Wheeler Michael A Hauser Natalie A Afshari R Rand Allingham Yutao Liu

Keratoconus is the most common ectatic disorder of the corneal. Genetic and environmental factors may contribute to its pathogenesis. The focus of this article is to summarize current research into the complex genetics of keratoconus. We discuss the evidence of genetic etiology including family-based linkage studies, twin studies, genetic mutations, and genome-wide association studies. The gene...

Journal: :Development 2010
Joseph A Brzezinski Deepak A Lamba Thomas A Reh

Photoreceptors, rods and cones are the most abundant cell type in the mammalian retina. However, the molecules that control their development are not fully understood. In studies of photoreceptor fate determination, we found that Blimp1 (Prdm1) is expressed transiently in developing photoreceptors. We analyzed the function of Blimp1 in the mouse retina using a conditional deletion approach. Dev...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه تربیت مدرس - دانشکده علوم پزشکی 1391

مطالعات انجام شده روی مکانیسمهای تکوینی و تکاملی گلبولهای قرمز منجر به دستیابی بشر به مفاهیم پایه و مهمی در ارتباط با مکانیسمهای عمومی تنظیم بیان ژن وشکل گیری بافتها شده است. تمایز اختصاصی به رده ارتیروئید و هر رده دیگری، شدیداً وابسته به تنظیم در سطح بیان ژن و فاکتورهای کنترلی خاص نظیر سیتوکین ها، فاکتورهای نسخه برداری ویژه، عناصر کنترل کننده چرخه سلولی، تکثیر،آپوپتوز و عناصر سیگنالینگ داخل سلو...

Journal: :Human molecular genetics 2010
Sacha Reichman Ravi Kiran Reddy Kalathur Sophie Lambard Najate Aït-Ali Yanjiang Yang Aurélie Lardenois Raymond Ripp Olivier Poch Donald J Zack José-Alain Sahel Thierry Léveillard

Rod-derived Cone Viability Factor (RdCVF) is a trophic factor with therapeutic potential for the treatment of retinitis pigmentosa, a retinal disease that commonly results in blindness. RdCVF is encoded by Nucleoredoxin-like 1 (Nxnl1), a gene homologous with the family of thioredoxins that participate in the defense against oxidative stress. RdCVF expression is lost after rod degeneration in th...

2004
F Brancati E M Valente A Sarkozy J Fehèr M Castori P Del Duca R Mingarelli A Pizzuti B Dallapiccola

K eratoconus (OMIM148300) is a bilateral, non-inflammatory, slowly progressive, corneal ectasia that is a major cause of corneal transplant. Characteristically, the cornea becomes thin and conical, with myopia and irregular astigmatism that leads to vision impairment. The incidence of keratoconus is between 50 and 230 per 100 000, with remarkable differences between ethnic groups. Although the ...

Journal: :Journal of medical genetics 2004
F Brancati E M Valente A Sarkozy J Fehèr M Castori P Del Duca R Mingarelli A Pizzuti B Dallapiccola

K eratoconus (OMIM148300) is a bilateral, non-inflammatory, slowly progressive, corneal ectasia that is a major cause of corneal transplant. Characteristically, the cornea becomes thin and conical, with myopia and irregular astigmatism that leads to vision impairment. The incidence of keratoconus is between 50 and 230 per 100 000, with remarkable differences between ethnic groups. Although the ...

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