Results 41 to 50 of about 1,085 (147)

RNA-Seq of Huntington's disease patient myeloid cells reveals innate transcriptional dysregulation associated with proinflammatory pathway activation [PDF]

, 2016
Innate immune activation beyond the central nervous system is emerging as a vital component of the pathogenesis of neurodegeneration. Huntington’s disease (HD) is a fatal neurodegenerative disorder caused by a CAG repeat expansion in the huntingtin gene.
Andre, Ralph, Hensman Moss, Davina J., Holmans, Peter, Jones, Lesley, Lo, Kitty K., Miller, James R. C., Plagnol, Vincent, Stone, Timothy C., Tabrizi, Sarah J., Träger, Ulrike   +9 more
core   +3 more sources

Analysis of exome data in a UK cohort of 603 patients with syndromic orofacial clefting identifies causal molecular pathways [PDF]

, 2023
Orofacial cleft (OC) is a common congenital anomaly in humans, which has lifelong implications for affected individuals. This disorder can be classified as syndromic or non-syndromic depending on the presence or absence of additional physical or ...
Kini, Usha, Newbury, Dianne F, Wilson, Kate   +2 more
core   +2 more sources

A robust prognostic signature for hormone-positive node-negative breast cancer [PDF]

, 2013
BACKGROUND: Systemic chemotherapy in the adjuvant setting can cure breast cancer in some patients that would otherwise recur with incurable, metastatic disease.
Collisson, Eric A, Enache, Oana M, Gray, Joe W, Griffith, Obi L, Heiser, Laura M, Pepin, Francois, Spellman, Paul T   +6 more
core   +2 more sources

Expression quantitative trait locus fine mapping of the 17q12-21 asthma locus in African American children: a genetic association and gene expression study. [PDF]

, 2022
Background: African ancestry is associated with a higher prevalence and greater severity of asthma than European ancestries, yet genetic studies of the most common locus associated with childhood-onset asthma, 17q12-21, in African Americans have been ...
Altman, Matthew C, Bacharier, Leonard B, Billheimer, Dean, Gern, James E, Gold, Diane R, Gress, Lisa, Hallmark, Brian, Hartert, Tina, Havstad, Suzanne, Hoepner, Lori, Hogarth, D Kyle, Jackson, Daniel J, Johnson, Christine C, Kattan, Meyer, Khurana Hershey, Gurjit K, Lemanske, Robert F, Levin, Albert M, Lynch, Susan V, Magnaye, Kevin M, Martinez, Fernando D, McKennan, Chris G, Mendonca, Eneida A, Miller, Rachel L, Naughton, Katherine A, Naureckas, Edward T, Nicolae, Dan L, O'Connor, George T, Ober, Carole, Ownby, Dennis, Rosasco, Mario G, Seroogy, Christine M, Stanhope, Catherine, Washington, Charles, Wegienka, Ganesa, White, Steven R, Wood, Robert A, Wright, Anne L, Zoratti, Edward M   +37 more
core   +1 more source

Translational analysis of moderate to severe asthma GWAS signals into candidate causal genes and their functional, tissue-dependent and disease-related associations [PDF]

, 2021
Asthma affects more than 300 million people globally and is both under diagnosed and under treated. The most recent and largest genome-wide association study investigating moderate to severe asthma to date was carried out in 2019 and identified 25 ...
Adcock, IM, Guo, Y, Hu, S, Portelli, MA, Rakkar, K, Sayers, I   +5 more
core   +1 more source

Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals [PDF]

, 2022
A large-scale GWAS provides insight on diabetes-dependent genetic effects on the glomerular filtration rate, a common metric to monitor kidney health in disease. Reduced glomerular filtration rate (GFR) can progress to kidney failure.
DiscovEHR MyCode Study, DiscovEHR MyCode Study, Kuokkanen, Mikko, LifeLines Cohort Study, LifeLines Cohort Study, Perola, Markus, Rasheed, Humaira, Salomaa, Veikko, Teumer, Alexander, VA Million Vet Program, VA Million Vet Program, Winkler, Thomas W.   +11 more
core   +4 more sources

Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report

BMC Pediatrics, 2019
Background Mutations in the PIGV, PIGO, PIGL, PIGY, PGAP2, PGAP3, and PIGW genes have recently been reported to cause hyperphosphatasia accompanied by mental retardation syndrome (HPMRS); the latter is an autosomal-recessive neurological disorder ...
Li’na Fu, Yan Liu, Yu Chen, Yi Yuan, Wei Wei   +4 more
doaj   +1 more source

Genetic landscape of multiple sclerosis susceptibility by leveraging multi-omics data [PDF]

, 2018
The main objective of the research studies presented in this thesis is to study the genetic variants and the expression of genes that relate to Multiple Sclerosis (MS).
James, Tojo
core   +1 more source

Genome-wide association study identifies novel recessive genetic variants for high TGs in an Arab population

Journal of Lipid Research, 2018
Abnormal blood lipid levels are influenced by genetic and lifestyle/dietary factors. Although many genetic variants associated with blood lipid traits have been identified in Europeans, similar data in Middle Eastern populations are limited. We performed
Prashantha Hebbar, Rasheeba Nizam, Motasem Melhem, Fadi Alkayal, Naser Elkum, Sumi Elsa John, Jaakko Tuomilehto, Osama Alsmadi, Thangavel Alphonse Thanaraj   +8 more
doaj   +1 more source

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome

Human Mutation, 2016
HPMRS or Mabry syndrome is a heterogeneous glycosylphosphatidylinositol (GPI) anchor deficiency that is caused by an impairment of synthesis or maturation of the GPI-anchor. The expressivity of the clinical features in HPMRS varies from severe syndromic forms with multiple organ malformations to mild nonsyndromic intellectual disability.
Knaus, A, Awaya, T, Helbig, I, Afawi, Z, Pendziwiat, M, Abu-Rachma, J, Thompson, MD, Cole, DE, Skinner, S, Annese, F, Canham, N, Schweiger, MR, Robinson, PN, Mundlos, S, Kinoshita, T, Munnich, A, Murakami, Y, Horn, D, Krawitz, PM   +18 more
openaire   +4 more sources