نتایج جستجو برای: P2RY5 gene

تعداد نتایج: 1141368  

Journal: :iranian journal of basic medical sciences 0
seyyedha abbas foundation university medical college (fumc), islamabad, pakistan abdul khaliq naveed army medical college, national university of sciences &technology.rawalpindi, pakistan shakir khan margalla medical and dental college, islamabad, pakistan muhammad jawad yousaf army medical college, national university of sciences & technology, rawalpindi, pakistan zahid azeem ajk medical college, muzaffrahbad, ajk, pakistan suhail razak biochemistry and molecular biology,army medical college, national university of sciences & technology, rawalpindi, pakistan

objective(s): genetic analysis of two consanguineous pakistani families with localized autosomal recessive hypotrichosis was performed with the goal to establish genotype-phenotype correlation. materials and methods: genomic dna extraction had been done from peripheral blood samples. extracted dna was then subjected to pcr (polymerase chain reaction) for amplification. linkage analysis was perf...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2007
Sangkyou Lee Joon Jeong Tadeusz Majewski Steven E Scherer Mi-Sook Kim Tomasz Tuziak Kuang S Tang Keith Baggerly Herbert Barton Grossman Jain-Hua Zhou Lanlan Shen Jolanta Bondaruk Saira S Ahmed Susmita Samanta Philippe Spiess Xifeng Wu Slawomir Filipek David McConkey Menashe Bar-Eli Jean-Pierre Issa William F Benedict Bogdan Czerniak

We used human bladder cancer as a model system and the whole-organ histologic and genetic mapping strategy to identify clonal genetic hits associated with growth advantage, tracking the evolution of bladder cancer from intraurothelial precursor lesions. Six putative chromosomal regions critical for clonal expansion of intraurothelial neoplasia and development of bladder cancer were identified b...

2014
Seyyedha Abbas Abdul Khaliq Naveed Shakir Khan Muhammad Jawad Yousaf Zahid Azeem Suhail Razak Fatima Qaiser

OBJECTIVES Genetic analysis of two consanguineous Pakistani families with localized autosomal recessive hypotrichosis was performed with the goal to establish genotype-phenotype correlation. MATERIALS AND METHODS Genomic DNA extraction had been done from peripheral blood samples. Extracted DNA was then subjected to PCR (polymerase chain reaction) for amplification. Linkage analysis was perfor...

Journal: :Cancer research 2006
Honglin Song Susan J Ramus Danielle Shadforth Lydia Quaye Susanne Kruger Kjaer Richard A Dicioccio Alison M Dunning Estrid Hogdall Claus Hogdall Alice S Whittemore Valerie McGuire Fabienne Lesueur Douglas F Easton Ian J Jacobs Bruce A J Ponder Simon A Gayther Paul D P Pharoah

Somatic alteration of the RB1 gene is common in several types of cancer, and germ-line variants are implicated in others. We have used a single nucleotide polymorphism (SNP) tagging approach to evaluate the association between common variants (SNP) in RB1 and risks of invasive ovarian cancer. We genotyped 11 tagging SNPs in three ovarian case-control studies from the United Kingdom, United Stat...

Abdul Khaliq Naveed Fatima Qaiser Muhammad Jawad Yousaf Seyyedha Abbas, Shakir Khan, Suhail Razak Zahid Azeem

Objective(s): Genetic analysis of two consanguineous Pakistani families with localized autosomal recessive hypotrichosis was performed with the goal to establish genotype-phenotype correlation. Materials and Methods: Genomic DNA extraction had been done from peripheral blood samples. Extracted DNA was then subjected to PCR (polymerase chain reaction) for amplification. Linkage analysis was perf...

Journal: :Human heredity 2009
Lynn Petukhova Yutaka Shimomura Muhammad Wajid Prakash Gorroochurn Susan E Hodge Angela M Christiano

Autozygosity mapping in consanguineous families has proven to be a powerful method for identifying recessive disease genes. Using this technique with whole genome SNP data generated from low density mapping arrays, we previously identified two genes that underlie autosomal recessive woolly hair (ARWH/hypotrichosis; OMIM278150), specifically P2RY5 and Lipase H (LIPH). In the current study, we so...

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: :Circulation 2015
Anna R Hemnes Aaron W Trammell Stephen L Archer Stuart Rich Chang Yu Hui Nian Niki Penner Mitchell Funke Lisa Wheeler Ivan M Robbins Eric D Austin John H Newman James West

BACKGROUND Heterogeneity in response to treatment of pulmonary arterial hypertension (PAH) is a major challenge to improving outcome in this disease. Although vasodilator-responsive PAH (VR-PAH) accounts for a minority of cases, VR-PAH has a pronounced response to calcium channel blockers and better survival than vasodilator-nonresponsive PAH (VN-PAH). We hypothesized that VR-PAH has a differen...

پایان نامه :وزارت علوم، تحقیقات و فناوری - دانشگاه تبریز - دانشکده کشاورزی 1390

تنش دمای پایین یکی از مهم ترین عوامل محیطی است که عملکرد گیاهان را محدود می نماید. شبکه وسیعی از ژن های مختلف در تنظیم تحمل گیاه به این تنش نقش ایفا می نمایند. در این تحقیق، نخست 921 عدد از ژن های مذکور از تحقیقات و مقالات معتبر علمی استخراج گردید و سپس به منظور شناسایی ژن های مشابه با آنها در ژنوم کامل دو گیاه سیب (malus domestica)و انگور (vitis vinifera)، توالی آمینو اسیدی این ژن ها در گیاه م...

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