Genetic pleiotropy of ERCC6 loss-of-function and deleterious missense variants links retinal dystrophy, arrhythmia, and immunodeficiency in diverse ancestries. [PDF]
Hum Mutat, 2021 Forrest IS +11 more
europepmc +1 more source
World Journal of Otorhinolaryngology - Head and Neck Surgery, EarlyView.ABSTRACT Objective Obstructive sleep apnea (OSA) is associated with neurocognitive impairment, but its causal relationship with personality traits remains poorly understood. This study investigates the association and causality between OSA and personality using both cohort and genetic data.
Jian‐Hong Liao +4 more
wiley +1 more source
Integrated Multi‐Omics Analysis Reveals the Genetic Basis of Phenotypic Variation in Tibetan Sheep
Integrative Zoology, EarlyView.SNaPshot‐validated GWAS results demonstrated significant correlations between candidate single nucleotide polymorphisms (SNPs) and body size traits in Tibetan sheep. Concurrently, hematoxylin and eosin staining, alongside muscle fiber analysis, confirmed pronounced morphological differences in muscle tissue between sheep of varying conformation.
Dehui Liu +16 more
wiley +1 more source
Translational PsychiatryGenetic contributions to human cortical structure manifest pervasive pleiotropy. This pleiotropy may be harnessed to identify unique genetically-informed parcellations of the cortex that are neurobiologically distinct from functional, cytoarchitectural ...
Rajendra A. Morey +18 more
doaj +1 more source
Genetic pleiotropy and the shared pathological features of corticobasal degeneration and progressive supranuclear palsy: a case report and a review of the literature. [PDF]
Neurocase, 2021 Rini J +8 more
europepmc +1 more source
Addiction, EarlyView.Abstract Background and aims Cannabis is the most widely used illicit drug worldwide and is often co‐used with tobacco, the leading cause of preventable death. Although cannabis and tobacco have distinct neurobiological actions, their associations with brain volumes are unclear.
Katherine Sawyer +16 more
wiley +1 more source
Amyotrophic lateral sclerosis is over-represented in two Huntington's disease brain bank cohorts: further evidence to support genetic pleiotropy of pathogenic HTT gene expansion. [PDF]
Acta Neuropathol, 2022 Hickman RA +5 more
europepmc +1 more source
The potential for biased signalling in the P2Y receptor family of GPCRs
British Journal of Pharmacology, EarlyView.The purinergic receptor family is primarily activated by nucleotides, and contains members of both the G protein coupled‐receptor (GPCR) superfamily (P1 and P2Y) and ligand‐gated ion channels (P2X). The P2Y receptors are widely expressed in the human body, and given the ubiquitous nature of nucleotides, purinergic signalling is involved with a plethora
Claudia M. Sisk +2 more
wiley +1 more source
British Journal of Pharmacology, EarlyView.Obesity is a chronic, relapsing, multisystem disease in which cardiometabolic risk arises from excess adiposity and progressive dysfunction of peripheral organs, ultimately disrupting endocrine and metabolic crosstalk among tissues. Within this network, sulphur‐based biology, centred on hydrogen sulphide and related reactive sulphur species, has ...
Martina Smimmo +4 more
wiley +1 more source
Macrophage Lipid Homeostasis Drives IVDD via a Senescence‐Dependent Impairment of Efferocytosis
Cell Proliferation, EarlyView.Intervertebral disc degeneration (IVDD) has been a leading cause of low back pain and lacks disease‐modifying therapies. Although dysregulated disc lipid metabolism is implicated, its impact on the immune microenvironment, particularly macrophages, remains unknown.
Jinyu Wang +12 more
wiley +1 more source