Results 211 to 220 of about 40,337 (298)

Research status and trends of Piezo1 and brain: A bibliometric analysis

open access: yesNeuroprotection, EarlyView.
This graphical abstract illustrates the workflow and key findings of the bibliometric analysis of Piezo1 in brain research. The primary results were visually centered on a brain graphic highlighting the Piezo1 channel, and three converging research hotspots were identified: neurovascular regulation, calcium signaling, and neuroinflammation.
Yu Liu   +8 more
wiley   +1 more source

Functional reassessment of extended splice region variants in MYO7A with hearing loss and Usher syndrome

open access: yesThe Journal of Pathology, EarlyView.
Abstract MYO7A is a causal gene, underlying Usher syndrome type 1B (USH1B) and both autosomal recessive (DFNB2) and dominant (DFNA11) non‐syndromic hearing loss. Despite the large number of reported MYO7A variants (over 2,200), variants located in an extended splice region remain difficult to interpret and are often classified as variants of uncertain ...
Tao Shi   +5 more
wiley   +1 more source

Exome Sequencing in Prenatally Diagnosed Isolated Neural Tube Defects: A Subtype‐Specific Analysis

open access: yesPrenatal Diagnosis, EarlyView.
ABSTRACT Objective To explore potential genetic contributors across different subtypes of isolated neural tube defects (NTDs) ‐ acrania–exencephaly–anencephaly sequence (AEAS), spinal dysraphism, and encephalocele ‐ using exome sequencing (ES) in a prenatal cohort, with the goal of gaining insight into the molecular diversity underlying these distinct ...
Adi Botvinik   +9 more
wiley   +1 more source

Evolutionary tuning of an auditory transduction channel. [PDF]

open access: yesCurr Biol
Akyuz N   +7 more
europepmc   +1 more source

Jervell and Lange‐Nielsen Syndrome Related Clinical Genetics and Experimental Models

open access: yesPediatric Discovery, EarlyView.
ABSTRACT Jervell and Lange‐Nielsen syndrome (JLNS) is defined by electrocardiographic QT prolongation and sensorineural hearing loss, caused by homozygous or compound heterozygous variants in KCNQ1 and/or KCNE1. KCNQ1 encodes the alpha subunit Kv7.1 of the ion channels accountable for slow delayed rectifier potassium currents (IKs), whereas KCNE1 ...
Yafei Zhou   +3 more
wiley   +1 more source

Rehabilitation and return to activity after platelet‐rich plasma injections in chronic tendinopathies: Consensus from international experts

open access: yesPM&R, EarlyView.
Abstract Background The effectiveness of platelet‐rich plasma (PRP) injections in chronic tendinopathies remains debated. Although the product's characteristics play a role, the impact of postinjection recommendations remains poorly investigated. Objective To establish principles and guidelines for post‐PRP injection rehabilitation and return to ...
Vincent Gremeaux   +12 more
wiley   +1 more source

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