نتایج جستجو برای: htra1

تعداد نتایج: 528  

2017
Hong Xiang Xufeng Tao Shilin Xia Jialin Qu Huiyi Song Jianjun Liu Dong Shang

Pancreatitis is an inflammatory disease that is responsible for substantial morbidity and mortality, and it can induce pancreatic necrosis that starts within pancreatic acinar cells in severe cases. Emodin, a pleiotropic natural product isolated from the Chinese herb Rheum palmatum L., has effective anti-inflammatory activities. In this paper, we investigated the protective effects and molecula...

Journal: :Human molecular genetics 2011
Ulrike Friedrich Connie A Myers Lars G Fritsche Andrea Milenkovich Armin Wolf Joseph C Corbo Bernhard H F Weber

Fifteen variants in 10q26 are in strong linkage disequilibrium and are associated with an increased risk for age-related macular degeneration (AMD), a frequent cause of blindness in developed countries. These variants tag a single-risk haplotype encompassing the genes ARMS2 (age-related maculopathy susceptibility 2) and part of HTRA1 (HtrA serine peptidase 1). To define the true AMD susceptibil...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2015
Nathalie Beaufort Eva Scharrer Vanda Lux Michael Ehrmann Christof Haffner Martin Dichgans

We thank Liu et al. (1) for their comments on our work on the link between the cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)-related protease high temperature requirement protein A1 (HtrA1) and the TGF-β signaling pathway. To advance our understanding of the mechanisms underlying HtrA1 deficiency, we used dermal fibroblasts from CARASIL pa...

Journal: :Investigative ophthalmology & visual science 2009
Gaofeng Wang Kylee L Spencer Brenda L Court Lana M Olson William K Scott Jonathan L Haines Margaret A Pericak-Vance

PURPOSE To analyze the relationship between ARMS2 and HTRA1 in the association with age-related macular degeneration (AMD) in an independent case-control dataset and to investigate the subcellular localization of the ARMS2 protein in an in vitro system. METHODS Two SNPs in ARMS2 and HTRA1 were genotyped in 685 cases and 269 controls by a genotyping assay. Allelic association was tested by a c...

Journal: :The British journal of ophthalmology 2010
X Yang J Hu J Zhang H Guan

BACKGROUND/AIMS Single nucleotide polymorphisms (SNPs) in Complement Factor H (CFH), HTRA1 and CX3CR1 are associated with age-related macular degeneration (AMD) in Caucasian population. We aimed to determine whether, and of what magnitude, these AMD susceptibility SNPs are associated with exudative AMD in Han Chinese. METHODS Exudative AMD cases and age-matched controls were recruited from Na...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2005
Sandra Grau Alfonso Baldi Rossana Bussani Xiaodan Tian Raluca Stefanescu Michael Przybylski Peter Richards Simon A Jones Viji Shridhar Tim Clausen Michael Ehrmann

The defining features of the widely conserved HtrA (high temperature requirement) family of serine proteases are the combination of a catalytic protease domain with one or more C-terminal PDZ domains and reversible zymogen activation. Even though HtrAs have previously been implicated in protein quality control and various diseases, including cancer, arthritis, and neuromuscular disorder, the bi...

2010
Zhenglin Yang Zongzhong Tong Yuhong Chen Jiexi Zeng Fang Lu Xufang Sun Chao Zhao Kevin Wang Lisa Davey Haoyu Chen Nyall London Daisuke Muramatsu Francesca Salasar Ruben Carmona Daniel Kasuga Xiaolei Wang Matthew Bedell Manjuxia Dixie Peiquan Zhao Ruifu Yang Daniel Gibbs Xiaoqi Liu Yan Li Cai Li Yuanfeng Li Betsy Campochiaro Ryan Constantine Donald J. Zack Peter Campochiaro Yinbin Fu Dean Y. Li Nicholas Katsanis Kang Zhang

A common haplotype on 10q26 influences the risk of age-related macular degeneration (AMD) and encompasses two genes, LOC387715 and HTRA1. Recent data have suggested that loss of LOC387715, mediated by an insertion/deletion (in/del) that destabilizes its message, is causally related with the disorder. Here we show that loss of LOC387715 is insufficient to explain AMD susceptibility, since a nons...

Journal: :Investigative ophthalmology & visual science 2008
Inderjeet Kaur Saritha Katta Avid Hussain Nazimul Hussain Annie Mathai Raja Narayanan Anjli Hussain Rajeev K Reddy Ajit B Majji Taraprasad Das Subhabrata Chakrabarti

PURPOSE Single nucleotide polymorphisms (SNPs) in the LOC387715 (rs10490924), HTRA1 (rs11200638), and CFH (rs1061170) genes have been implicated in age-related macular degeneration (AMD). The present study was undertaken to determine the involvement of the LOC387715 and HTRA1 in an AMD cohort from India. METHODS The coding region of LOC387715 (exon 1) and the promoter of HTRA1 were screened b...

Journal: :Investigative ophthalmology & visual science 2008
Nicolas Leveziel Jennyfer Zerbib Florence Richard Giuseppe Querques Gilles Morineau Veronique Fremeaux-Bacchi Gabriel Coscas Gisèle Soubrane Pascale Benlian Eric H Souied

PURPOSE Major genetic factors for age-related macular degeneration (AMD) have recently been identified as susceptibility risk factors, including polymorphisms of HTRA1 and CFH genes. The purpose was to analyze the angiographic features of patients harboring homozygous genotypes for HTRA1 and CFH genes in a French exudative AMD population. METHODS Two hundred patients affected with exudative A...

Journal: :Human molecular genetics 2011
Atsushi Shiga Hiroaki Nozaki Akio Yokoseki Megumi Nihonmatsu Hirotoshi Kawata Taisuke Kato Akihide Koyama Kunimasa Arima Mari Ikeda Shinichi Katada Yasuko Toyoshima Hitoshi Takahashi Akira Tanaka Imaharu Nakano Takeshi Ikeuchi Masatoyo Nishizawa Osamu Onodera

Cerebral small-vessel disease is a common disorder in elderly populations; however, its molecular basis is not well understood. We recently demonstrated that mutations in the high-temperature requirement A (HTRA) serine peptidase 1 (HTRA1) gene cause a hereditary cerebral small-vessel disease, cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL)....

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