Results 1 to 10 of about 4,566 (174)

Impact of age-related maculopathy susceptibility 2, high-temperature requirement A serine peptidase 1, and complement factor H genetic variants on clinical phenotypes of age-related macular degeneration [PDF]

Indian Journal of Ophthalmology
Purpose: Age-related macular degeneration (AMD) is a leading cause of irreversible vision loss in the elderly. This study investigated the association of single-nucleotide polymorphisms (SNPs) in ARMS2, HTRA1, and CFH with AMD and its clinical phenotypes
Divya Ranga, Simarpreet Kaur, Nayudu Nallabelli, Surya Prakash Sharma, Basavaraj Tigari, Mohit Dogra, Deeksha Katoch, Suresh K Sharma, Ramandeep Singh, Nirbhai Singh   +9 more
doaj   +5 more sources

HTRA1 (High Temperature Requirement A Serine Peptidase 1) Gene Is Transcriptionally Regulated by Insertion/Deletion Nucleotides Located at the 3′ End of the ARMS2 (Age-related Maculopathy Susceptibility 2) Gene in Patients with Age-related Macular Degeneration [PDF]

Journal of Biological Chemistry, 2015
Dry age-related macular degeneration (AMD) accounts for over 85% of AMD cases in the United States, whereas Japanese AMD patients predominantly progress to wet AMD or polypoidal choroidal vasculopathy. Recent genome-wide association studies have revealed a strong association between AMD and an insertion/deletion sequence between the ARMS2 (age-related ...
Daisuke, Iejima, Takeshi, Itabashi, Yuich, Kawamura, Toru, Noda, Shinsuke, Yuasa, Keiichi, Fukuda, Chio, Oka, Takeshi, Iwata   +7 more
openaire   +4 more sources

Serine Protease HTRA1 Membranous Nephropathy With Polytypic IgG Concurrent With Plasma Cell Dyscrasia [PDF]

Kidney Medicine
A growing number of target antigens have been identified in membranous nephropathy (MN) in recent years. Clinical correlations exist for some MN antigens, whereas others remain poorly characterized because of their rarity.
Jonathan E. Zuckerman, Sarah Larson, Lama Abdelnour   +2 more
doaj   +2 more sources

Genetic Risk and OCT-Based Phenotypic Associations in Age-Related Macular Degeneration [PDF]

Ophthalmology Science
Purpose: The risk for developing age-related macular degeneration (AMD) is associated with multiple genetic variants. We aim to evaluate the association of AMD genetic risk variants with specific features of the disease detected by OCT.
Shlomit Jaskoll, Yahel Shwartz, MSc, Adi Kramer, MSc, Sarah Elbaz-Hayoun, PhD, Batya Rinsky, PhD, Michelle Grunin, PhD, Liran Tiosano, MD, Jaime Levy, MD, Brice Nguedia Vofo, MD, MBA, Itay Chowers, MD   +9 more
doaj   +2 more sources

Association of HTRA1 and ARMS2 gene polymorphisms with response to intravitreal ranibizumab among neovascular age-related macular degenerative subjects

Human Genomics, 2019
Background The association of HTRA1 rs11200638 and ARMS2 rs10490924 gene polymorphisms with response to intravitreal ranibizumab therapy among neovascular AMD (nAMD) subjects in Malaysia was determined in this study, followed by the expression of HTRA1 ...
Nur Afiqah Mohamad, Vasudevan Ramachandran, Hazlita Mohd Isa, Yoke Mun Chan, Nor Fariza Ngah, Siew Mooi Ching, Fan Kee Hoo, Wan Aliaa Wan Sulaiman, Liyana Najwa Inche Mat, Mohd Hazmi Mohamed   +9 more
doaj   +1 more source

Bringing the age-related macular degeneration high-risk allele age-related maculopathy susceptibility 2 into focus with stem cell technology

Stem Cell Research & Therapy, 2017
Age-related macular degeneration (AMD) is a major cause of blindness in older adults in developed countries. It is a multifactorial disease triggered by both environmental and genetic factors. High-temperature requirement A serine peptidase 1 (HTRA1) and
Shuo Sun, ZhiQing Li, Patrick Glencer, BinCui Cai, XiaoMin Zhang, Jin Yang, XiaoRong Li   +6 more
doaj   +1 more source

Heterozygous Pathogenic and Likely Pathogenic Symptomatic HTRA1 Variant Carriers in Cerebral Small Vessel Disease

International Journal of General Medicine, 2023
Sui-Yi Xu,1,* Hui-Juan Li,2,* Shun Li,2 Qian-Qian Ren,1 Jian-Lin Liang,1 Chang-Xin Li1 1Department of Neurology, Headache Center, The First Hospital of Shanxi Medical University, Taiyuan, People’s Republic of China; 2Center for Medical Genetics &
Xu SY, Li HJ, Li S, Ren QQ, Liang JL, Li CX   +5 more
doaj  

Proteome-Wide Genetic Investigation of Large Artery Stiffness

JACC: Basic to Translational Science
Summary: The molecular mechanisms contributing to large artery stiffness (LAS) are not fully understood. The aim of this study was to investigate the association between circulating plasma proteins and LAS using complementary proteomic and genomic ...
Marie-Joe Dib, PhD, Joe David Azzo, MD, Lei Zhao, MD, PhD, Oday Salman, MD, Sushrima Gan, PhD, Marc L. De Buyzere, MSc, Tim De Meyer, PhD, Christina Ebert, PhD, Kushan Gunawardhana, PhD, Laura Liu, PhD, David Gordon, PhD, Dietmar Seiffert, MD, PhD, Chang Ching-Pin, MD, PhD, Payman Zamani, MD, MTR, Jordana B. Cohen, MD, MSCE, Bianca Pourmussa, BA, Seavmeiyin Kun, BA, Dipender Gill, MD, PhD, Stephen Burgess, PhD, Vanessa van Empel, MD, A. Mark Richards, MD, PhD, Jaclyn Dennis, PhD, Ali Javaheri, MD, PhD, Douglas L. Mann, MD, Thomas P. Cappola, MD, ScM, Ernst Rietzschel, MD, PhD, Julio A. Chirinos, MD, PhD   +26 more
doaj   +1 more source

Genetics and Age-Related Macular Degeneration: A Practical Review for Clinicians

Frontiers in Bioscience-Scholar
Age-related macular degeneration (AMD) is a multifactorial genetic disease, with at least 52 identifiable associated gene variants at 34 loci, including variants in complement factor H (CFH) and age-related maculopathy susceptibility 2/high-temperature ...
Julia Nguyen, Milam A. Brantley, Jr., Stephen G Schwartz   +2 more
doaj   +1 more source

Genetic Insights into Age-Related Macular Degeneration

Biomedicines
One of the major causes of vision impairment among elderly people in developed nations is age-related macular degeneration (AMD). The distinctive features of AMD are the accumulation of extracellular deposits called drusen and the gradual deterioration ...
Bhumika, Nalini S. Bora, Puran S. Bora
doaj   +1 more source