Results 71 to 80 of about 879,135 (289)
Biallelic loss‐of‐function variants in
Clinical Genetics, 2017 DOCK3 encodes the dedicator of cytokinesis 3 protein, a member of the DOCK180 family of proteins that are characterized by guanine‐nucleotide exchange factor activity. DOCK3 is expressed exclusively in the central nervous system and plays an important role in axonal outgrowth and cytoskeleton reorganization.
K.L. Helbig +4 more
openaire +2 more sources
External physical and biochemical stimulation to enhance skeletal muscle bioengineering [PDF]
, 2015 Cell based muscle tissue engineering carries the potential to revert the functional loss of muscle tissue caused by disease and trauma. Although muscle tissue can be bioengineered using various precursor cells, major limitations still remain.; In the ...
Handschin, Christoph +5 more
core +1 more source
, 2023 Phelan-McDermid syndrome (PMS) is a syndromic form of Autism Spectrum Disorders (ASD) classified as a rare genetic neurodevelopmental disorder featuring global developmental delay, absent or delayed speech, ASD-like behaviour and neonatal skeletal muscle
Sarah Jesse (120792) +6 more
core +1 more source
Advanced Science, EarlyView.Sepsis disrupts immune‐cell rhythms and weakens bacterial clearance. Biomimetic nanovesicles combining erythrocyte and inflammation‐activated macrophage membranes deliver siNR1D1 to dysfunctional macrophages, restoring the NR1D1–IGF2BP2–V‐ATPase pathway, circadian regulation, phagolysosomal acidification, and antimicrobial defense.
Lang Chen +13 more
wiley +1 more source
Indirect Estimates of Jaw Muscle Tension in Children With Suspected Hypertonia, Children With Suspected Hypotonia, and Matched Controls [PDF]
Journal of Speech, Language, and Hearing Research, 2013 PurposeIn this study, the authors compared indirect estimates of jaw-muscle tension in children with suspected muscle-tone abnormalities with age- and gender-matched controls.MethodJaw movement and muscle activation were measured in children (ages 3 years, 11 months, to 10 years) with suspected muscle-tone abnormalities (Down syndrome or spastic ...
Kathryn P, Connaghan +1 more
openaire +2 more sources
An Injectable, Self‐Expanding Hemostatic Foam for Field‐Compatible Postpartum Hemorrhage Management
Advanced Science, EarlyView.Postpartum hemorrhage is the leading cause of maternal death worldwide, yet many treatments are hard to use outside well‐equipped hospitals. This work introduces an easy‐to‐use device that rapidly delivers a degradable foam into the uterus. The foam stops bleeding through pressure and clotting support, offering a practical option for low‐resource ...
Charlotte Meyer +12 more
wiley +1 more source
, 2023 Phelan-McDermid syndrome (PMS) is a syndromic form of Autism Spectrum Disorders (ASD) classified as a rare genetic neurodevelopmental disorder featuring global developmental delay, absent or delayed speech, ASD-like behaviour and neonatal skeletal muscle
Sarah Jesse (120792) +6 more
core +1 more source
Advanced Science, EarlyView.Lactate accumulation after SCI promotes H4K12la lactylation, which upregulates NDUFS7, triggering mitochondrial RET and ROS, enforcing pro‐inflammatory microglial polarization. MM@mPTC, a biomimetic nanotherapeutic, degrades LDHA in activated microglia, reducing H4K12la lactylation and blocking RET, thus curbing ROS, fostering a reparative phenotype ...
Chenglong Hong +13 more
wiley +1 more source
, 2023 Phelan-McDermid syndrome (PMS) is a syndromic form of Autism Spectrum Disorders (ASD) classified as a rare genetic neurodevelopmental disorder featuring global developmental delay, absent or delayed speech, ASD-like behaviour and neonatal skeletal muscle
Sarah Jesse (120792) +6 more
core +1 more source
Expanded Phenotype Associated With an Intronic PPP1R12A Variant: A Case Report and Literature Review
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Autosomal dominant PPP1R12A‐related genitourinary and/or brain malformation syndrome is a recently described multisystem disorder caused by loss‐of‐function variants in the protein phosphatase 1 regulatory subunit 12a (PPP1R12A) gene. To date, 22 affected individuals have been reported with variable brain malformations and genitourinary ...
Emily M. Bland +4 more
wiley +1 more source