نتایج جستجو برای: cag repeats length

تعداد نتایج: 331727  

Journal: :Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology 2007
Joellen M Schildkraut Susan K Murphy Rachel T Palmieri Edwin Iversen Patricia G Moorman Zhiqing Huang Susan Halabi Brian Calingaert Alison Gusberg Jeffrey R Marks Andrew Berchuck

INTRODUCTION Androgens may play a role in the development of ovarian cancers. Two trinucleotide repeat polymorphisms have been described in exon 1 of the androgen receptor (AR) gene that may affect its function. Previous studies of ovarian cancer and AR repeat polymorphisms have been inconsistent. METHODS We analyzed CAG and GGC repeat length polymorphisms in the AR gene using data from a pop...

Journal: :Human mutation 1999
I Panagopoulos C Lassen U Kristoffersson P Aman

Huntington disease (HD) is an autosomal dominant neurodegenerative disorder associated with expansions of an unstable CAG trinucleotide repeat in exon 1 of the IT15 gene. In normal individuals, IT15 contains up to 35 CAG repeats, while in affected the repeat length is >36. Polymerase chain reaction (PCR) is used to estimate the number of CAG repeats but may be inefficient in long repeats becaus...

2017
Hong Weng Sheng Li Jing-Yu Huang Zi-Qi He Xiang-Yu Meng Yue Cao Cheng Fang Xian-Tao Zeng

Although the association between CAG and GGN repeats in the androgen receptor gene and prostate cancer risk has been widely studied, it remains controversial from previous meta-analyses and narrative reviews. Therefore, we performed this meta-analysis to provide more precise estimates with sufficient power. A total of 51 publications with 61 studies for CAG repeats and 14 publications with 16 s...

2014
DOAA SHAHIN SHERIN M. SOBH

Background: Trinucleotide repeats CAG (n) in androgen receptor gene is thought to be central to PCOS genetic susceptibility. However, previous studies of PCOS have shown variable association of CAG (n) polymorphism with PCOS. Objective: To assess the association of the AR gene CAG repeat length polymorphism with PCOS among Egyption patients, and its influence on clinical and biochemical androge...

Journal: :genetics in the 3rd millennium 0
محمد تقی اکبری mohammad taghi akbari tehran medical genetics laboratory, no. 297 taleghani street, tehran, iran

huntingtons disease (hd) is an autosomal dominant inherited disease characterized by involuntary movements, behavioral and personality changes, dementia and cognitive decline. although the mean age of onset is about 40 years, it varies from 5 to 79 years. therefore, at-risk individuals are never sure to have escaped the disease. hd is a member of the growing family of neurodegenerative disorder...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2000
J Carmichael J Chatellier A Woolfson C Milstein A R Fersht D C Rubinsztein

Huntington's disease (HD) is an autosomal dominant neurodegenerative condition caused by expansions of more than 35 uninterrupted CAG repeats in exon 1 of the huntingtin gene. The CAG repeats in HD and the other seven known diseases caused by CAG codon expansions are translated into long polyglutamine tracts that confer a deleterious gain of function on the mutant proteins. Intraneuronal inclus...

Journal: :Molecular and cellular endocrinology 2013
L J S Brokken L Rylander B A Jönsson M Spanò H S Pedersen J K Ludwicki V Zviezdai D Bizzaro G C Manicardi G Toft J P Bonde A Giwercman Y Lundberg Giwercman

Recently the dogma that there is an inverse linear association between androgen receptor (AR) CAG and GGN polymorphisms and receptor activity has been challenged. We analysed the pattern of association between 21 male reproductive phenotypes and AR CAG/GGN repeat lengths in 557 proven-fertile men. A linear association was only found between sperm DNA fragmentation index (DFI) and CAG length, an...

2011
Kaalak Reddy Mandy Tam Richard P. Bowater Miriam Barber Matthew Tomlinson Kerrie Nichol Edamura Yuh-Hwa Wang Christopher E. Pearson

R-loops have been described at immunoglobulin class switch sequences, prokaryotic and mitochondrial replication origins, and disease-associated (CAG)n and (GAA)n trinucleotide repeats. The determinants of trinucleotide R-loop formation are unclear. Trinucleotide repeat expansions cause diseases including DM1 (CTG)n, SCA1 (CAG)n, FRAXA (CGG)n, FRAXE (CCG)n and FRDA (GAA)n. Bidirectional converge...

Journal: :International journal of molecular medicine 2013
Jun-Hyun Sun Sang-Ah Lee

Although a number of studies have been conducted on the association between prostate cancer and CAG repeat polymorphisms of the androgen receptor gene, this association remains elusive and controversial. In this meta-analysis, we aimed to evaluate the effects of (CAG)n repeat genetic polymorphisms on the incidence of prostate cancer, particularly as regards race, study design and the number of ...

Journal: :genetics in the 3rd millennium 0
مسعود هوشمند masoud houshmand asst. prof. of molecular genetics, national institute for genetic engineering and biotechnology / special medical center, tehran, iran سپیده دادگر sepideh dadgar امید آریانی omid aryani فریبا هرمزیان fariba hormozian محمد حسین صنعتی mohammad hossein sanati رضا غیاثوند reza ghiasvand

huntington’s disease (hd) is an inherited neurodegenerative disorder characterized by chorea and progressive dementia. the mutation causing the disease has been identified as an unstable expansion of a tri-nucleotide (cag) n at the 5 end of the it 15 gene on chromosome 4. we analyzed the distribution of cag repeats in 66 iranian patients belonging to 66 unrelated families. we found one expanded...

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