Results 151 to 160 of about 2,074,887 (343)

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 more
wiley   +1 more source

Adhesion of retinal cells to gold surfaces by biomimetic molecules

open access: yesFrontiers in Cell and Developmental Biology
BackgroundNeural cell-electrode coupling is crucial for effective neural and retinal prostheses. Enhancing this coupling can be achieved through surface modification and geometrical design to increase neuron-electrode proximity.
Gal Shpun   +11 more
doaj   +1 more source

A Novel Splice Variant in ERGIC1 Causes Arthrogryposis Multiplex Congenita—Characterization Using Urine‐Derived Cells

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis multiplex congenita (AMC) is defined as the presence of joint contractures affecting at least two body regions at birth. Three different ERGIC1 variants have been reported in individuals with AMC. Here, we report on a 16‐year‐old male with a homozygous ERGIC1 c.250+1G>A variant that was classified as a variant of uncertain ...
Lauren Kerr   +7 more
wiley   +1 more source

Cancer therapy‐induced ototoxicity: Current challenges and emerging management strategies

open access: yesAnimal Models and Experimental Medicine, EarlyView.
This review comprehensively examines the key risk factors for cancer therapy‐induced ototoxicity, including cumulative drug dose, genetic susceptibility, and combined treatment regimens. It highlights current challenges in ototoxicity monitoring, such as insufficient timeliness and limited clinical adoption, and advocates for standardized auditory ...
Yuqi Huang   +4 more
wiley   +1 more source

Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak

open access: yesAnimal Research and One Health, EarlyView.
Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan   +15 more
wiley   +1 more source

Marine silicon for biomedical sustainability

open access: yesBMEMat, EarlyView.
Schematic illustrating marine silicon for biomedical engineering. Abstract Despite momentous divergence from oceanic origin, human beings and marine organisms exhibit elemental homology through silicon utilization. Notably, silicon serves as a critical constituent in multiple biomedical processes.
Yahui Han   +3 more
wiley   +1 more source

Exploring Control Mechanism of Motoneuron Pools for the Forearm Antagonist Synergistic Muscles

open access: yesIEEE Transactions on Neural Systems and Rehabilitation Engineering
The EMG-based neural control strategy provides technical support and innovative methodologies for the precise control and natural movement of hand prostheses.
Haoran Ren, Xinyu Jiang, Chenyun Dai
doaj   +1 more source

Patient preferences for next generation neural prostheses to restore bladder function [PDF]

open access: bronze, 2010
Patricia Sanders   +3 more
openalex   +1 more source

Implant‐related orofacial pain managed with implant apicoectomy: A case report

open access: yesClinical Advances in Periodontics, EarlyView.
Abstract Background In recent years, the use of implants has emerged as a widely accepted method for the replacement of missing teeth. Although rare, chronic pain associated with implant placement has been reported in the literature. Conversely, apicoectomy, the removal of the apical portion has been integrated into the implantology field in cases with
Oscar Durán‐Garnica   +4 more
wiley   +1 more source

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