Results 11 to 20 of about 769,507 (169)

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

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

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

Thousands of Qatari genomes inform human migration history and improve imputation of Arab haplotypes

Nature Communications, 2021
Arab populations are relatively understudied, especially their genetic architecture and historical relationship with early founders of the ancient Near East.
Rozaimi Mohamad Razali, Juan Rodriguez-Flores, Mohammadmersad Ghorbani, Haroon Naeem, Waleed Aamer, Elbay Aliyev, Ali Jubran, Qatar Genome Program Research Consortium, Andrew G. Clark, Khalid A. Fakhro, Younes Mokrab   +10 more
doaj   +1 more source

Case Report: Identification of a Novel Heterozygous Missense Mutation in COL4A3 Gene Causing Variable Phenotypes in an Autosomal-Dominant Alport Syndrome Family

Frontiers in Genetics, 2022
Alport syndrome (AS) is a genetic kidney disease of basement membrane collagen disorder accounting for approximately 2% of ESRD patients. Next-generation and whole-exome sequencing methods are increasingly frequently used as an efficient tool not only ...
Yanglin Hu, Wei Li, Lulu Tian, Shuai Fu, Yonglong Min, Jia Liu, Fei Xiong   +6 more
doaj   +1 more source

Genetics of Spontaneous Intracerebral Hemorrhage: Risk and Outcome

Frontiers in Neuroscience, 2022
Spontaneous intracerebral hemorrhage (ICH) is a common fatal event without an effective therapy. Of note, some familial aggregation and inherited tendency is found in ICH and heritability estimates indicate that genetic variations contribute ...
Hongxiu Guo, Mingfeng You, Jiehong Wu, Anqi Chen, Yan Wan, Xinmei Gu, Senwei Tan, Yating Xu, Quanwei He, Bo Hu   +9 more
doaj   +1 more source

Human Genetics to Identify Therapeutic Targets for NAFLD: Challenges and Opportunities

Frontiers in Endocrinology, 2021
Non-alcoholic fatty liver disease (NAFLD) is a continuous progression of pathophysiologic stages that is challenging to diagnose due to its inherent heterogeneity and poor standardization across a wide variety of diagnostic measures.
Xiaomi Du, Xiaomi Du, Natalie DeForest, Natalie DeForest, Amit R. Majithia   +4 more
doaj   +1 more source

Flanking heterozygosity influences the relative probability of different base substitutions in humans [PDF]

Royal Society Open Science, 2019
Understanding when, where and which mutations are mostly likely to occur impacts many areas of evolutionary biology, from genetic diseases to phylogenetic reconstruction.
William Amos
doaj   +1 more source

Whole-Genome Sequencing and Genomic Variant Analysis of Kazakh Individuals

Frontiers in Genetics, 2022
Kazakhstan, the ninth-largest country in the world, is located along the Great Silk Road and connects Europe with Asia. Historically, its territory has been inhabited by nomadic tribes, and modern-day Kazakhstan is a multiethnic country with a dominant ...
Ulykbek Kairov, Askhat Molkenov, Aigul Sharip, Saule Rakhimova, Madina Seidualy, Arang Rhie, Ulan Kozhamkulov, Maxat Zhabagin, Jong-Il Kim, Joseph H. Lee, Joseph D. Terwilliger, Jeong-Sun Seo, Zhaxybay Zhumadilov, Zhaxybay Zhumadilov, Ainur Akilzhanova   +14 more
doaj   +1 more source