Results 51 to 60 of about 1,321,379 (303)

Twelve New Genomic Loci Associated With Bone Mineral Density

Frontiers in Endocrinology, 2020
Aiming to identify more genomic loci associated with bone mineral density (BMD), we conducted a joint association analysis of 2 genome-wide association study (GWAS) by the integrative association method multi-trait analysis of GWAS (MTAG).
Lu Liu, Min Zhao, Zonggang Xie, Ju Liu, Hui-Ping Peng, Y. Pei, Hong-Peng Sun, Lei Zhang   +7 more
semanticscholar   +1 more source

Management of pediatric keratoconus - Evolving role of corneal collagen cross-linking: An update

Indian Journal of Ophthalmology, 2013
Pediatric keratoconus demonstrates several distinctive management issues in comparison with adult keratoconus with respect to under-diagnosis, poor compliance and modifications in treatment patterns.
Vardhaman P Kankariya, George D Kymionis, Vasilios F Diakonis, Sonia H Yoo   +3 more
doaj   +1 more source

Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status

Nature Communications, 2019
Eosinophilic granulomatosis with polyangiitis (EGPA) is a rare inflammatory disease of unknown cause. 30% of patients have anti-neutrophil cytoplasmic antibodies (ANCA) specific for myeloperoxidase (MPO). Here, we describe a genome-wide association study
P. Lyons, J. Peters, F. Alberici, J. Liley, R. Coulson, W. Astle, C. Baldini, F. Bonatti, M. Cid, H. Elding, G. Emmi, J. Epplen, L. Guillevin, D. Jayne, T. Jiang, I. Gunnarsson, P. Lamprecht, S. Leslie, M. Little, D. Martorana, F. Moosig, T. Neumann, Sophie Ohlsson, S. Quickert, G. Ramirez, B. Rewerska, G. Schett, R. Sinico, W. Szczeklik, V. Tesar, Damjan Vukcevic, B. Terrier, R. Watts, A. Vaglio, J. Holle, C. Wallace, Kenneth G. C. Smith   +36 more
semanticscholar   +1 more source

Multi-tissue neocortical transcriptome-wide association study implicates 8 genes across 6 genomic loci in Alzheimer’s disease

Genome Medicine, 2020
Alzheimer’s disease (AD) is an incurable neurodegenerative disease currently affecting 1.75% of the US population, with projected growth to 3.46% by 2050.
Jake Gockley, Kelsey S. Montgomery, William L. Poehlman, Jesse C. Wiley, Yue Liu, E. Gerasimov, Anna K. Greenwood, S. Sieberts, A. Wingo, T. Wingo, L. Mangravite, Benjamin A. Logsdon   +11 more
semanticscholar   +1 more source

Keratoconus: A biomechanical perspective on loss of corneal stiffness

Indian Journal of Ophthalmology, 2013
Keratoconus (KC) is progressive disease of corneal thinning, steepening and collagen degradation. Biomechanics of the cornea is maintained by the intricate collagen network, which is responsible for its unique shape and function.
Abhijit Sinha Roy, Rohit Shetty, Mathew Kurian Kummelil   +2 more
doaj   +1 more source

Prioritization of Copy Number Variation Loci Associated with Autism from AutDB-An Integrative Multi-Study Genetic Database. [PDF]

PLoS ONE, 2013
Copy number variants (CNVs) are thought to play an important role in the predisposition to autism spectrum disorder (ASD). However, their relatively low frequency and widespread genomic distribution complicates their accurate characterization and ...
Idan Menashe, Eric C Larsen, Sharmila Banerjee-Basu   +2 more
doaj   +1 more source

GWAS Identifies 44 Independent Associated Genomic Loci for Self-Reported Adult Hearing Difficulty in UK Biobank.

American Journal of Human Genetics, 2019
Age-related hearing impairment (ARHI) is the most common sensory impairment in the aging population; a third of individuals are affected by disabling hearing loss by the age of 65.
Helena R. R. Wells, M. Freidin, Fatin N. Zainul Abidin, A. Payton, P. Dawes, K. Munro, C. Morton, David R. Moore, S. Dawson, F. Williams   +9 more
semanticscholar   +1 more source

Genomic loci susceptible to systematic sequencing bias in clinical whole genomes [PDF]

Genome Research, 2019
Abstract Accurate massively parallel sequencing (MPS) of genetic variants is key to many areas of science and medicine, such as cataloguing population genetic variation and diagnosing genetic diseases. Certain genomic positions can be prone to higher rates of systematic sequencing and alignment bias that limit accuracy, resulting in ...
Freeman, TM, Wang, D, Harris, J, Hackett, JM, Halai, D, Hamblin, A, Henderson, S, Holman, JE, Hubbard, TJP, Ibanez, K, Jackson, R, Jones, LJ, Kasperaviciute, D, Kayikci, M, Lahnstein, L, Lawson, K, Leigh, SEA, Leong, IUS, McDonagh, EM, Moutsianas, L, Mueller, M, Murugaesu, N, Need, AC, Odhams, CA, Patch, C, Perez-Gil, D, Polychronopoulos, D, Pullinger, J, Rahim, T, Rendon, A, Riesgo-Ferreiro, P, Rogers, T, Ryten, M, Savage, K, Sawant, K, Scott, RH, Siddiq, A, Sieghart, A, Smedley, D, Smith, KR, Sosinsky, A, Spooner, W, Stevens, HE, Stuckey, A, Sultana, R, Thomas, ERA, Thompson, SR, Tregidgo, C, Tucci, A, Walsh, E, Watters, SA, Welland, MJ, Williams, E, Witkowska, K, Wood, SM, Zarowiecki, M, Consortium, GER, Genomics England Research Consortium   +57 more
openaire   +5 more sources

Intrastromal corneal ring segments for management of keratoconus

Indian Journal of Ophthalmology, 2013
Keratoconus is a progressive corneal ectasia, which can be managed both by conservative measures like glasses or contact lenses in non-progressive cases or surgical procedures like collagen crosslinking (CXL) with or without adjuvant measures like ...
Sri Ganesh, Rohit Shetty, Sharon D′Souza, Sarika Ramachandran, Mathew Kurian   +4 more
doaj   +1 more source

Collagen cross linking: Current perspectives

Indian Journal of Ophthalmology, 2013
Keratoconus is a common ectatic disorder occurring in more than 1 in 1,000 individuals. The condition typically starts in adolescence and early adulthood. It is a disease with an uncertain cause and its progression is unpredictable, but in extreme cases,
Srinivas K Rao
doaj   +1 more source