Results 101 to 110 of about 10,288,978 (312)

Extremely low-coverage whole genome sequencing in South Asians captures population genomics information

BMC Genomics, 2017
Background The cost of Whole Genome Sequencing (WGS) has decreased tremendously in recent years due to advances in next-generation sequencing technologies.
Navin Rustagi, Anbo Zhou, W. Scott Watkins, Erika Gedvilaite, Shuoguo Wang, Naveen Ramesh, Donna Muzny, Richard A. Gibbs, Lynn B. Jorde, Fuli Yu, Jinchuan Xing   +10 more
doaj   +1 more source

Organ‐specific redox imbalances in spinal muscular atrophy mice are partially rescued by SMN antisense oligonucleotides

FEBS Letters, EarlyView.
We identified a systemic, progressive loss of protein S‐glutathionylation—detected by nonreducing western blotting—alongside dysregulation of glutathione‐cycle enzymes in both neuronal and peripheral tissues of Taiwanese SMA mice. These alterations were partially rescued by SMN antisense oligonucleotide therapy, revealing persistent redox imbalance as ...
Sofia Vrettou, Brunhilde Wirth
wiley   +1 more source

Deficiency in DNAH12 causes male infertility by impairing DNAH1 and DNALI1 recruitment in humans and mice

eLife
Asthenoteratozoospermia, a prevalent cause of male infertility, lacks a well-defined etiology. DNAH12 is a special dynein featured by the absence of a microtubule-binding domain, however, its functions in spermatogenesis remain largely unknown.
Menglei Yang, Hafiz Muhammad Jafar Hussain, Manan Khan, Zubair Muhammad, Jianteng Zhou, Ao Ma, Xiongheng Huang, Jingwei Ye, Min Chen, Aoran Zhi, Tao Liu, Ranjha Khan, Ali Asim, Wasim Shah, Aurang Zeb, Nisar Ahmad, Huan Zhang, Bo Xu, Hui Ma, Qinghua Shi, Baolu Shi   +20 more
doaj   +1 more source

The Human Gene Mutation Database: building a comprehensive mutation repository for clinical and molecular genetics, diagnostic testing and personalized genomic medicine

Human Genetics, 2013
The Human Gene Mutation Database (HGMD®) is a comprehensive collection of germline mutations in nuclear genes that underlie, or are associated with, human inherited disease.
P. Stenson, M. Mort, E. Ball, Katy Shaw, A. Phillips, D. Cooper   +5 more
semanticscholar   +1 more source

Mechanisms of IgE‐mediated food allergy and the role of allergen‐specific B cells

FEBS Letters, EarlyView.
Food allergy arises when allergen‐specific B cells preferentially produce immunoglobulin E (IgE) antibodies against harmless foods. This article explains the mechanisms driving IgE‐mediated reactions, highlights the central role of these B cells, and discusses how natural tolerance (NT) and oral immunotherapy (OIT) can reshape allergic immune responses.
Juan‐Felipe López, Özge Yilmaz Ardicli, Mübeccel Akdis   +2 more
wiley   +1 more source

HUMAN GENETICS [PDF]

Annual Review of Genetics, 1970
openaire   +4 more sources

Transferrin receptor 1‐mediated iron uptake supports thermogenic activation in human cervical‐derived adipocytes

FEBS Letters, EarlyView.
In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai, Mizuki Seo, Gyath Karadsheh, Fachrur Rizal Mahendra, Máté Á Demény, Ferenc Győry, János András Mótyán, László Fésüs, Endre Kristóf, Rini Arianti   +9 more
wiley   +1 more source

History of medical genetics in South Africa

Journal of the Colleges of Medicine of South Africa
No abstract available.
Jennifer G. Kromberg, Grietje de Jong
doaj   +1 more source

The planar cell polarity protein Vangl2 interacts with the PDZ‐domains of Scribble but not with a unique PDZ‐like domain in Inturned

FEBS Letters, EarlyView.
Structural and biochemical characterisations show that the planar cell polarity (PCP) protein Inturned harbours a unique PDZ‐like domain that does not bind canonical PDZ‐binding motifs (PBMs) like that of another PCP protein Vangl2. In contrast, the apical‐basal polarity protein Scribble contains four PDZ domains that bind Vangl2, but one PDZ domain ...
Stephan Wilmes, Jan Brysch, Carmen Gelze, Lilli Meier, Daniel Kümmel   +4 more
wiley   +1 more source

Tau acetylation at K331 has limited impact on tau pathology in vivo

FEBS Letters, EarlyView.
We mapped tau post‐translational modifications in humanized MAPT knock‐in mice and in amyloid‐bearing double knock‐in mice. Acetylation within the repeat domain, particularly around K331, showed modest increases under amyloid pathology. To test functional relevance, we generated MAPTK331Q knock‐in mice.
Shoko Hashimoto, Yukio Matsuba, Mika Takahashi, Takaomi C. Saido   +3 more
wiley   +1 more source