Results 111 to 120 of about 68,407 (296)
Venlafaxine stabilizes axons of the neurons in depression model mice [PDF]
Objective To investigate whether the effects of venlafaxine on major depression disorder is associated with ankyrin G. Methods Breed Synapsin-Cre1 and Ankyrin3-floxed mice (Ank3 cKO mice). Ank3 cKO mice and wild type mice were randomly divided into model
SUI Jiaping, WEI Hui
doaj +1 more source
Capturing coevolutionary signals in repeat proteins [PDF]
The analysis of correlations of amino acid occurrences in globular proteins has led to the development of statistical tools that can identify native contacts -- portions of the chains that come to close distance in folded structural ensembles.
Espada, Rocío +4 more
core +5 more sources
De novo TANC2 stop‐loss variant associated with developmental impairment and drug‐resistant epilepsy
Epileptic Disorders, EarlyView.
Matthew A. Hintermayer, Kenneth A. Myers
wiley +1 more source
Defining AV2‐1 as a novel pharmacological probe to target human and rodent TRPV2
Abstract Background and Purpose Transient receptor potential vanilloid 2 (TRPV2) is a non‐selective cation channel implicated in immune cell functions. However, progress in understanding TRPV2 has been limited by a lack of potent and selective pharmacological tools, particularly those targeting the human variant. We aimed to identify and characterise a
Andrea Leipe +6 more
wiley +1 more source
Small cell lung cancer (SCLC) actively exports ATP through PANX1 channels, triggering P2RX7‐mediated autocrine signaling and promoting tumor proliferation. Inhibition of PANX1 or P2RX7 disrupts this loop and suppresses tumor growth. ABSTRACT Small cell lung cancer (SCLC) is an aggressive malignancy with a 5‐year survival rate of less than 7%.
Takeshi Tsuruda +2 more
wiley +1 more source
Multiplex ligation-dependent probe amplification (MLPA) analysis is an effective tool for the detection of novel intragenic PLA2G6 mutations: Implications for molecular diagnosis [PDF]
Phospholipase associated neurodegeneration (PLAN) comprises a heterogeneous group of autosomal recessive neurological disorders caused by mutations in the PLA2G6 gene. Direct gene sequencing detects 85% mutations in infantile neuroaxonal dystrophy.
Brady, Angela F +14 more
core +1 more source
ABSTRACT Context Placental calcium (Ca2+) transport is essential for foetal bone mineralisation and development, as well as for Ca2+ homoeostasis. Rare mutations in transient receptor potential vanilloid (TRPV) 6 of the infant cause insufficient maternal‐foetal Ca2+ transport through the placenta.
Teodora Grigore +6 more
wiley +1 more source
Intestinal spirochaetes of the genus Brachyspira share a partially conserved 26 kilobase genomic region with Enterococcus faecalis and Escherichia coli [PDF]
Anaerobic intestinal spirochaetes of the genus Brachyspira include both pathogenic and commensal species. The two best-studied members are the pathogenic species B. hyodysenteriae (the aetiological agent of swine dysentery) and B.
Bellgard, M.I. +5 more
core +3 more sources
PhenoScore, an AI framework integrating facial recognition and clinical phenotype data, accurately identifies pathogenic ANKRD11 missense variants associated with KBG syndrome (AUC 0.95). Validated against functional data, PhenoScore outperforms REVEL and complements AlphaMissense, providing objective phenotypic evidence to reduce variants of uncertain
Evi Andriessen +5 more
wiley +1 more source

