Human Genetics
Papers 12634
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#1Jacqueline Milet (University of Paris)
#2Anne Boland (Université Paris-Saclay)H-Index: 37
Last.Hervé Perdry (French Institute of Health and Medical Research)H-Index: 10
view all 14 authors...
Recent research efforts to identify genes involved in malaria susceptibility using genome-wide approaches have focused on severe malaria. Here, we present the first GWAS on non-severe malaria designed to identify genetic variants involved in innate immunity or innate resistance mechanisms. Our study was performed on two cohorts of infants from southern Benin (525 and 250 individuals used as discovery and replication cohorts, respectively) closely followed from birth to 18–24 months of age, with ...
#1Amke Caliebe (CAU: University of Kiel)H-Index: 21
#2Michael Nothnagel M (University of Cologne)H-Index: 36
#1Antonella De Lillo (University of Rome Tor Vergata)H-Index: 1
#2Flavio De Angelis (University of Rome Tor Vergata)H-Index: 7
Last.Renato Polimanti (Yale University)H-Index: 21
view all 8 authors...
Transthyretin (TTR) gene has a causal role in a hereditary form of amyloidosis (ATTRm) and is potentially involved in the risk of wild-type transthyretin amyloidosis (ATTRwt). To understand the genetics of ATTRm and ATTRwt, we conducted a phenome-wide association study of TTR gene in 361,194 participants of European descent testing coding and non-coding variants. Among the 382 clinically relevant phenotypes tested, TTR non-coding variants were associated with 26 phenotypic traits after multiple ...
#1Dennis J. Konczyk (Boston Children's Hospital)H-Index: 2
#2Jeremy A. Goss (Boston Children's Hospital)H-Index: 3
Last.Arin K. Greene (Boston Children's Hospital)H-Index: 35
view all 8 authors...
The majority of extracranial arteriovenous malformations (AVMs) are caused by somatic mutations in MAP2K1. We report a somatic HRAS mutation in a patient who has a facial AVM associated with subcutaneous adipose overgrowth. We performed whole exome sequencing on DNA from the affected tissue and found a HRAS mutation (p.Thr58_Ala59delinsValLeuAspVal). Mutant allelic frequency was 5% in whole tissue and 31% in isolated endothelial cells (ECs); the mutation was not present in blood DNA or non-ECs. ...
#1Kridsadakorn Chaichoompu (MPG: Max Planck Society)H-Index: 1
#2Fentaw Abegaz (University of Liège)H-Index: 6
Last.K. Van Steen (University of Liège)H-Index: 48
view all 7 authors...
Due to its long genetic evolutionary history, Africans exhibit more genetic variation than any other population in the world. Their genetic diversity further lends itself to subdivisions of Africans into groups of individuals with a genetic similarity of varying degrees of granularity. It remains challenging to detect fine-scale structure in a computationally efficient and meaningful way. In this paper, we present a proof-of-concept of a novel fine-scale population structure detection tool with ...
1 CitationsSource
#1Marjut Salokannel (UTU: University of Turku)
#2Heta Tarkkala (UH: University of Helsinki)H-Index: 2
Last.Karoliina Snell (UH: University of Helsinki)H-Index: 8
view all 3 authors...
Biobank operations started officially in Finland in 2013 when the Biobank Act defining and regulating biobank operations came into force. Since then, ten biobanks have been established and they have started to collect new prospective samples with broad consent. The main corpus of biobank samples, however, consists of approximately 10 million “legacy samples”. These are old diagnostic or research samples that were transferred to biobanks in accordance with the Biobank Act. The focus of this artic...
#1Dora Janeth Fonseca (Del Rosario University)H-Index: 10
Last.Paul Laissue (Del Rosario University)H-Index: 17
view all 11 authors...
Stevens–Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are rare severe cutaneous adverse reactions to drugs. Granulysin (GNLY) plays a key role in keratinocyte apoptosis during SJS/TEN pathophysiology. To determine if GNLY-encoding mutations might be related to the protein’s functional disturbances, contributing to SJS/TEN pathogenesis, we performed direct sequencing of GNLY’s coding region in a group of 19 Colombian SJS/TEN patients. A GNLY genetic screening was implemented in a gr...
#1Xiaofei LiH-Index: 1
#2Yongwei ZhouH-Index: 1
Last.Qining YangH-Index: 1
view all 7 authors...
Pluripotent stem cell (PSC) cultures form an integral part of biomedical and medical research due to their capacity to rapidly proliferate and differentiate into hundreds of highly specialized cell types. This makes them a highly useful tool in exploring human physiology and disease. Genomic editing of PSC cultures is an essential method of attaining answers to basic physiological functions, developing in vitro models of human disease, and exploring potential therapeutic strategies and the ident...
#1Stéphanie MoisanH-Index: 1
#2Anaïs Le Nabec (French Institute of Health and Medical Research)
Last.Claude FérecH-Index: 63
view all 5 authors...
Although most disease-causing variants are within coding region of genes, it is now well established that cis-acting regulatory sequences, depending on 3D-chromatin organization, are required for temporal and spatial control of gene expression. Disruptions of such regulatory elements and/or chromatin conformation are likely to play a critical role in human genetic disease. Hence, recurrent monoallelic cases, who present the most common hereditary type of nonsyndromic hearing loss (i.e., DFNB1), ...
#1Hongjie Chen (UW: University of Washington)
#2Gleb Kichaev (UCLA: University of California, Los Angeles)H-Index: 16
Last.Sara Lindstroem (UW: University of Washington)H-Index: 46
view all 9 authors...
Although genome-wide association studies (GWAS) have identified hundreds of risk loci for breast and prostate cancer, only a few studies have characterized the GWAS association signals across functional genomic annotations with a particular focus on single nucleotide polymorphisms (SNPs) located in DNA regulatory elements. In this study, we investigated the enrichment pattern of GWAS signals for breast and prostate cancer in genomic functional regions located in normal tissue and cancer cell lin...
Top fields of study
Molecular biology