Results 1 to 10 of about 1,645,712 (209)

Strengthening human genetics research in Africa: report of the 9th meeting of the African Society of Human Genetics in Dakar in May 2016. [PDF]

, 2017
The 9th meeting of the African Society of Human Genetics, in partnership with the Senegalese Cancer Research and Study Group and the Human Heredity and Health in Africa (H3Africa) Consortium, was held in Dakar, Senegal.
Cisse, A, Dem, A, Dieye, A, Diop, JPD, Diop, N, Faye, O, Gadji, M, Gaye, A, Guèye, MV, Guèye, PM, Hennig, BJ, Ka, S, Lopez Sall, P, Matovu, E, Ndiaye Diallo, R, Newport, M, Ramesar, RS, Ramsay, M, Rotimi, C, Sembene, M, Sylla Niang, M, Williams, SM, Wonkam, A   +22 more
core   +4 more sources

Human genetics seen through an evolutionary lens. [PDF]

Cell Genom, 2023
Ponting CP.
europepmc   +2 more sources

SHANK2 mutations impair apoptosis, proliferation and neurite outgrowth during early neuronal differentiation in SH-SY5Y cells

Scientific Reports, 2021
SHANK2 mutations have been identified in individuals with neurodevelopmental disorders, including intellectual disability and autism spectrum disorders (ASD).
Christine Unsicker, Flavia-Bianca Cristian, Manja von Hahn, Volker Eckstein, Gudrun A. Rappold, Simone Berkel   +5 more
doaj   +1 more source

Congenital aortic valve stenosis: from pathophysiology to molecular genetics and the need for novel therapeutics

Frontiers in Cardiovascular Medicine, 2023
Congenital aortic valve stenosis (AVS) is one of the most common valve anomalies and accounts for 3%–6% of cardiac malformations. As congenital AVS is often progressive, many patients, both children and adults, require transcatheter or surgical ...
Jun Yasuhara, Jun Yasuhara, Karlee Schultz, Amee M. Bigelow, Amee M. Bigelow, Vidu Garg, Vidu Garg, Vidu Garg, Vidu Garg   +8 more
doaj   +1 more source

Rewriting Human History and Empowering Indigenous Communities with Genome Editing Tools. [PDF]

, 2020
Appropriate empirical-based evidence and detailed theoretical considerations should be used for evolutionary explanations of phenotypic variation observed in the field of human population genetics (especially Indigenous populations). Investigators within
Fox, Keolu, Komor, Alexis C, Rallapalli, Kartik Lakshmi   +2 more
core   +2 more sources

Human Genetic Research in Pakistan: Challenges and Way forward

Life and Science, 2021
The 90s ushered in the era of molecular genetics in Pakistan. Our centuries’ old tradition of consanguineous marriages, resulting in the availability of large, inbred families with inherited disorders, proved to be a goldmine for geneticists, working to ...
Syed Muhammad Imran Majeed, Aisha Mohyuddin   +1 more
doaj   +1 more source

Cell-free DNA screening for sex chromosomal aneuploidies in 9985 pregnancies: Italian single experience

BMC Research Notes, 2020
Objective Non invasive prenatal testing (NIPT) using cell-free fetal DNA (cffDNA) has been widely accepted in recent years to detect common fetal autosomal chromosome aneuploidies and sex chromosome aneuploidies (SCAs).
Katia Margiotti, Anthony Cesta, Claudio Dello Russo, Antonella Cima, Maria Antonietta Barone, Antonella Viola, Davide Sparacino, Alvaro Mesoraca, Claudio Giorlandino   +8 more
doaj   +1 more source

Sex-specific differences in peripheral blood leukocyte transcriptional response to LPS are enriched for HLA region and X chromosome genes

Scientific Reports, 2021
Sex-specific differences in prevalence are well documented for many common, complex diseases, especially for immune-mediated diseases, yet the precise mechanisms through which factors associated with biological sex exert their effects throughout life are
Michelle M. Stein, Mitch Conery, Kevin M. Magnaye, Selene M. Clay, Christine Billstrand, Raluca Nicolae, Katherine Naughton, Carole Ober, Emma E. Thompson   +8 more
doaj   +1 more source

Mutation saturation for fitness effects at human CpG sites

eLife, 2021
Whole exome sequences have now been collected for millions of humans, with the related goals of identifying pathogenic mutations in patients and establishing reference repositories of data from unaffected individuals.
Ipsita Agarwal, Molly Przeworski
doaj   +1 more source

DecodeME: community recruitment for a large genetics study of myalgic encephalomyelitis / chronic fatigue syndrome

BMC Neurology, 2022
Background Myalgic encephalomyelitis / chronic fatigue syndrome (ME/CFS) is a common, long-term condition characterised by post-exertional malaise, often with fatigue that is not significantly relieved by rest.
Andy Devereux-Cooke, Sian Leary, Simon J. McGrath, Emma Northwood, Anna Redshaw, Charles Shepherd, Pippa Stacey, Claire Tripp, Jim Wilson, Margaret Mar, Danielle Boobyer, Sam Bromiley, Sonya Chowdhury, Claire Dransfield, Mohammed Almas, Øyvind Almelid, David Buchanan, Diana Garcia, John Ireland, Shona M. Kerr, Isabel Lewis, Ewan McDowall, Malgorzata Migdal, Phil Murray, David Perry, Chris P. Ponting, Veronique Vitart, Jareth C. Wolfe   +27 more
doaj   +1 more source