Results 61 to 70 of about 851,678 (251)

A Common Variant in CLDN14 is Associated with Primary Biliary Cirrhosis and Bone Mineral Density. [PDF]

open access: yes, 2016
Primary biliary cirrhosis (PBC), a chronic autoimmune liver disease, has been associated with increased incidence of osteoporosis. Intriguingly, two PBC susceptibility loci identified through genome-wide association studies are also involved in bone ...
Bian, Zhaolian   +18 more
core   +2 more sources

Structural biology of ferritin nanocages

open access: yesFEBS Letters, EarlyView.
Ferritin is a conserved iron‐storage protein that sequesters iron as a ferric mineral core within a nanocage, protecting cells from oxidative damage and maintaining iron homeostasis. This review discusses ferritin biology, structure, and function, and highlights recent cryo‐EM studies revealing mechanisms of ferritinophagy, cellular iron uptake, and ...
Eloise Mastrangelo, Flavio Di Pisa
wiley   +1 more source

Phenotype-specific association of the TGFBR3 locus with nonsyndromic cryptorchidism [PDF]

open access: yes, 2015
PURPOSE: Based on a genome-wide association study of testicular dysgenesis syndrome showing a possible association with TGFBR3, we analyzed data from a larger, phenotypically restricted cryptorchidism population for potential replication of this signal.
Abrams, D   +18 more
core   +1 more source

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

open access: yesFEBS 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   +3 more
wiley   +1 more source

A genome-wide interaction study of thyroid-stimulating hormone levels and particulate matter exposure among Koreans

open access: yesGenes and Environment
Background Although the associations between air pollution exposure and thyroid function have been reported, the interactive effects of the genes involved remain unknown. Therefore, we aimed to identify candidate genetic loci involved in thyroid function
Young Jun Park   +8 more
doaj   +1 more source

Statistical methods to detect pleiotropy in human complex traits [PDF]

open access: yesOpen Biology, 2017
In recent years pleiotropy, the phenomenon of one genetic locus influencing several traits, has become a widely researched field in human genetics. With the increasing availability of genome-wide association study summary statistics, as well as the ...
Sophie Hackinger, Eleftheria Zeggini
doaj   +1 more source

Genome-wide association study for calving performance using high-density genotypes in dairy and beef cattle [PDF]

open access: yes, 2015
peer-reviewedBackground Calving difficulty and perinatal mortality are prevalent in modern-day cattle production systems. It is well-established that there is a genetic component to both traits, yet little is known about their underlying genomic ...
Berry, Donagh   +4 more
core   +3 more sources

Diversity and complexity in neural organoids

open access: yesFEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

Genetic susceptibility to feline infectious peritonitis in Birman cats. [PDF]

open access: yes, 2013
Genetic factors are presumed to influence the incidence of feline infectious peritonitis (FIP), especially among pedigreed cats. However, proof for the existence of such factors has been limited and mainly anecdotal.
Golovko, Lyudmila   +5 more
core   +1 more source

Fetal Brain Tumor Harboring a Unique ROCK1::BRAF Fusion

open access: yes
Pediatric Blood &Cancer, EarlyView.
Marllon Cindra Sant'Ana   +8 more
wiley   +1 more source

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