نتایج جستجو برای: htra1

تعداد نتایج: 528  

2013
Harmeet Singh Ying Li Peter J Fuller Craig Harrison Jyothsna Rao Andrew N Stephens Guiying Nie

Objective. The high temperature requirement factor A3 (HtrA3) is a serine protease homologous to bacterial HtrA. Four human HtrAs have been identified. HtrA1 and HtrA3 share a high degree of domain organization and are downregulated in a number of cancers, suggesting a widespread loss of these proteases in cancer. This study examined how extensively the HtrA (HtrA1-3) proteins are downregulated...

2010
Yu Tong Jing Liao Yuan Zhang Jing Zhou Hengyu Zhang Meng Mao

PURPOSE To examine the association of age-related macular degeneration (AMD) with HtrA serine peptidase 1 (HTRA1) gene rs11200638 G→A polymorphism and LOC387715/ ARMS2 gene rs10490924 G→T polymorphisms, and to evaluate the magnitude of the gene effect and the possible genetic mode of action. METHODS We searched the US National Library of Medicine's PubMed, Embase, OMIM, ISI Web of Science, an...

2014
Takashi Tsuchihashi Keisuke Mori Kuniko Horie-Inoue Yasushi Okazaki Takuya Awata Satoshi Inoue Shin Yoneya

BACKGROUND This study aimed to demonstrate the phenotypic and genotypic factors associated with photodynamic therapy (PDT) for age-related macular degeneration (AMD). METHODS The study included 149 patients with exudative AMD treated by PDT. Eight phenotypic factors and ten genotypic factors for three single nucleotide polymorphisms (SNPs; rs800292, rs1061170, rs1410996) in the complement fac...

Journal: :Archivos de la Sociedad Espanola de Oftalmologia 2013
F Cruz-González R Lorenzo-Pérez C Cañete-Campos E Hernández-Galilea R González-Sarmiento

OBJECTIVE To demonstrate genetic influence on the onset of age-related macular disease (AMD), analyzing genotype distribution of haplotypes, including polymorphisms of genes with proved relationships with AMD risk (CFH, ARMS2, HTRA1) in patients with AMD and in healthy people. METHODS We took 101 consecutive patients with an AMD diagnosis following Wisconsin international classification. For ...

2007
Amanda J Churchill James G Carter

10.2217/14750708.4.2.167 © 2 Evaluation of: Yang Z, Camp NJ, Sun H et al.: A variant of the HTRA1 gene increases susceptibility to age-related macular degeneration. Science 314(5801), 992–993 (2006) [1]. Age-related macular degeneration is a common cause of visual loss in the elderly, yet the genetic basis for this disease is poorly understood. Linkage studies show a major susceptibility locus ...

Journal: :Molecular Vision 2008
Itay Chowers Tal Meir Michal Lederman Nitza Goldenberg-Cohen Yoram Cohen Eyal Banin Edward Averbukh Itzhak Hemo Ayala Pollack Ruth Axer-Siegel Orly Weinstein Josephine Hoh Donald J. Zack Tural Galbinur

PURPOSE Single nucleotide polymorphisms (SNPs) in the tightly linked LOC387715/ARMS2 and HTRA1 genes have been associated with age-related macular degeneration (AMD). We tested whether these SNPs are associated with AMD in Israeli populations, if they underlie variable phenotype and response to therapy in neovascular AMD (NVAMD), and if HTRA1 expression in vivo is associated with its promoter v...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2014
Nathalie Beaufort Eva Scharrer Elisabeth Kremmer Vanda Lux Michael Ehrmann Robert Huber Henry Houlden David Werring Christof Haffner Martin Dichgans

High temperature requirement protein A1 (HtrA1) is a primarily secreted serine protease involved in a variety of cellular processes including transforming growth factor β (TGF-β) signaling. Loss of its activity causes cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL), an inherited form of cerebral small vessel disease leading to early-onset st...

Journal: :Molecular Vision 2008
Yule Xu Ning Guan Jun Xu Xiufen Yang Kai Ma Haiying Zhou Feng Zhang Torkel Snellingen Yiqun Jiao Xipu Liu Ningli Wang Ningpu Liu

PURPOSE Variants in complement factor H (CFH), the hypothetical LOC387715, and the high-temperature requirement A-1 (HTRA1) genes have been reported to be associated with age-related macular degeneration (AMD). The purpose of this study was to investigate the association of reported common single-nucleotide polymorphisms (SNPs) in CFH, LOC387715, and HTRA1 with exudative AMD in a northern Chine...

Journal: :Stroke 2015
Inês Menezes Cordeiro Hipólito Nzwalo Francisca Sá Rita Bastos Ferreira Isabel Alonso Luís Afonso Carlos Basílio

BACKGROUND AND PURPOSE Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a rare form of nonhypertensive cerebral small-vessel disease caused by mutations in the HTRA1 gene. CARASIL is characterized by early adulthood onset of subcortical infarcts, cognitive impairment, alopecia, and spondylosis. Until recently, this disorder was almost excl...

Journal: :Rheumatology 2009
Johann Clouet Gaël Grimandi Marianne Pot-Vaucel Martial Masson Hakim B Fellah Lydie Guigand Yan Cherel Eric Bord François Rannou Pierre Weiss Jérôme Guicheux Claire Vinatier

OBJECTIVE The present study was conducted to improve our knowledge of intervertebral disc (IVD) cell biology by comparing the phenotype of nucleus pulposus (NP) and annulus fibrosus (AF) cells with that of articular chondrocytes (ACs). METHODS Rabbit cells from NP and AF were isolated and their phenotype was compared with that of AC by real-time PCR analysis of type I (COL1A1), II (COL2A1) an...

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