Results 1 to 10 of about 262,173 (350)

Genetics of Plasminogen Activator Inhibitor-1 (PAI-1) in a Ghanaian Population. [PDF]

PLoS ONE, 2015
Plasminogen activator inhibitor 1 (PAI-1), a major modulator of the fibrinolytic system, is an important factor in cardiovascular disease (CVD) susceptibility and severity.
Marquitta J White, Nuri M Kodaman, Reed H Harder, Folkert W Asselbergs, Douglas E Vaughan, Nancy J Brown, Jason H Moore, Scott M Williams   +7 more
doaj   +3 more sources

Decreased IL-17–producing TH cells as a diagnostic marker for STAT signaling–related primary immunodeficiencies [PDF]

Journal of Allergy and Clinical Immunology: Global
Background: Certain primary immunodeficiencies present with decreased TH17 counts, including signal transducer and activator of transcription 3 (STAT3)- and dedicator of cytokinesis 8 (DOCK8)-linked hyper-IgE syndrome (HIES) and STAT1-linked chronic ...
Emese Molnár, MD, PhD, Gábor Kovács, MD, Fariba Tahami, MSc, Hajnalka Andrikovics, MD, PhD, Siobhan Burns, MD, PhD, Sofia Grigoriadou, MD, PhD, Matthew Buckland, MD, PhD, Kimberly Gilmour, PhD   +7 more
doaj   +2 more sources

CRISPR-Cas9 Technology for the Creation of Biological Avatars Capable of Modeling and Treating Pathologies: From Discovery to the Latest Improvements

Cells, 2022
This is a spectacular moment for genetics to evolve in genome editing, which encompasses the precise alteration of the cellular DNA sequences within various species. One of the most fascinating genome-editing technologies currently available is Clustered
Ali Nasrallah, Eric Sulpice, Farah Kobaisi, Xavier Gidrol, Walid Rachidi   +4 more
doaj   +1 more source

Targeted mutagenesis in the malaria mosquito using TALE nucleases. [PDF]

PLoS ONE, 2013
Anopheles gambiae, the main mosquito vector of human malaria, is a challenging organism to manipulate genetically. As a consequence, reverse genetics studies in this disease vector have been largely limited to RNA interference experiments.
Andrea L Smidler, Olivier Terenzi, Julien Soichot, Elena A Levashina, Eric Marois   +4 more
doaj   +1 more source

Recent advances in genetically modified large-animal models of human diseases

BIO Integration, 2022
Large-animal models show greater advantages than rodents in recapitulating human genetic diseases, primarily because of their higher similarity to humans in terms of anatomy, physiology and genetics.
Jing Zhang, Xiaoyue Sun, Chunwei Cao
doaj   +1 more source

KATP channel mutations in congenital hyperinsulinism: Progress and challenges towards mechanism-based therapies

Frontiers in Endocrinology, 2023
Congenital hyperinsulinism (CHI) is the most common cause of persistent hypoglycemia in infancy/childhood and is a serious condition associated with severe recurrent attacks of hypoglycemia due to dysregulated insulin secretion.
Assmaa ElSheikh, Assmaa ElSheikh, Show-Ling Shyng   +2 more
doaj   +1 more source

The dawn of active genetics [PDF]

BioEssays, 2015
On December 18, 2014, a yellow female fly quietly emerged from her pupal case. What made her unique was that she had only one parent carrying a mutant allele of this classic recessive locus.
Valentino M, Gantz, Ethan, Bier
openaire   +2 more sources

PRMT5 Cooperates with pICln to Function as a Master Epigenetic Activator of DNA Double-Strand Break Repair Genes

iScience, 2020
Summary: DNA double-strand break (DSB) repair is critical for cell survival and genome integrity. Upon recognition of DSBs, repair proteins are transiently upregulated to facilitate repair through homologous recombination (HR) or non-homologous end ...
Jake L. Owens, Elena Beketova, Sheng Liu, Samantha L. Tinsley, Andrew M. Asberry, Xuehong Deng, Jiaoti Huang, Chenglong Li, Jun Wan, Chang-Deng Hu   +9 more
doaj   +1 more source

Genetics of plasma paroxonase activity [PDF]

Journal of Medical Genetics, 1982
Complex segregation analysis of plasma paroxonase activity gives evidence for a major locus with incomplete dominance (d = 0·70) causing high activity plus a background of multifactorial inheritance (heritability = 0·09).
L, Iselius, D A, Evans, J R, Playfer
openaire   +2 more sources

The Genetic Activity Profile Database [PDF]

Environmental Health Perspectives, 1991
A graphic approach termed a Genetic Activity Profile (GAP) has been developed to display a matrix of data on the genetic and related effects of selected chemical agents. The profiles provide a visual overview of the quantitative (doses) and qualitative (test results) data for each chemical.
M D, Waters, H F, Stack, N E, Garrett, M A, Jackson   +3 more
openaire   +3 more sources