Results 71 to 80 of about 142,271 (283)
A Novel Nonsense Mutation of POU4F3 Gene Causes Autosomal Dominant Hearing Loss
Neural Plasticity, 2016 POU4F3 gene encodes a transcription factor which plays an essential role in the maturation and maintenance of hair cells in cochlea and vestibular system.
Chi Zhang +8 more
doaj +1 more source
A truncation mutation in the L1CAM gene in a child with hydrocephalus
AIMS Molecular Science, 2021 Hydrocephalus is a neurodevelopmental, X-linked recessive disorder caused by mutations in the L1CAM gene. The L1CAM gene encodes for L1CAM protein which is essential for the nervous system development including adhesion between neurons, Myelination ...
Madhan Srinivasamurthy +2 more
doaj +1 more source
Genotype-phenotype correlation study in 364 osteogenesis imperfecta Italian patients [PDF]
, 2019 Osteogenesis imperfecta (OI) is a rare genetic disorder of the connective tissue and 90% of cases are due to dominant mutations in COL1A1 and COL1A2 genes.
Boarini, Manila +11 more
core +1 more source
Advanced Functional Materials, EarlyView.Lipid nanoparticles (LNPs) are optimized to co‐deliver Cas9‐encoding messenger RNA (mRNA), a single guide RNA (sgRNA) targeting the endogenous cystic fibrosis transmembrane conductance regulator (CFTR) gene, and homologous linear double‐stranded donor DNA (ldsDNA) templates encoding CFTR.
Ruth A. Foley +12 more
wiley +1 more source
Whole exome and targeted deep sequencing identify genome-wide allelic loss and frequent SETDB1 mutations in malignant pleural mesotheliomas. [PDF]
, 2016 Malignant pleural mesothelioma (MPM), a rare malignancy with a poor prognosis, is mainly caused by exposure to asbestos or other organic fibers, but the underlying genetic mechanism is not fully understood.
Fang, Li Tai +11 more
core +3 more sources
Advanced Healthcare Materials, EarlyView.This study characterizes the presence of microplastics in human normal gastric, para‐tumor, and gastric tumor tissue and confirms the association between microplastic exposure and lymph node metastasis in gastric cancer. This study explores the transcriptomic changes induced by microplastic exposure, laying the foundation for further investigation into
Liqiao Chen +13 more
wiley +1 more source
Novel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case report
BMC Pediatrics, 2023 Background Elastin-driven genetic diseases are a group of complex diseases driven by elastin protein insufficiency and dominant-negative production of aberrant protein, including supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa ...
Hua-yong Zhang, Min Xiao, Yong Zhang
doaj +1 more source
Suppressing nonsense--a surprising function for 5-azacytidine. [PDF]
, 2014 In this issue of EMBO Molecular Medicine, Bhuvanagiri et al report on a chemical means to convert molecular junk into gold. They identify a chemical inhibitor of a quality control pathway that is best known for its ability to clear cells of rubbish, but ...
Shao, Ada, Wilkinson, Miles F
core +2 more sources
Advanced Sensor Research, EarlyView.This Review focuses on assessing and providing perspective on the field of rationally‐designed optical sensors constructed with single‐walled carbon nanotubes. The literature is reviewed and evaluated for SWCNT‐based sensors constructed with biomolecular recognition elements, including proteins, peptides, and oligonucleotides, as well as their methods ...
Amelia K. Ryan +4 more
wiley +1 more source
Hepatology, EarlyView., 2022 A deleterious variant of FCHSD1 results in mTOR pathway overactivation and may cause porto‐sinusoidal vascular disorder (PSVD). The pedigree of the family demonstrated an autosomal dominant disease with variable expressivity. Whole‐genome sequencing and Sanger sequencing both validated the existence of the FCHSD1 variant and the heterozygosity of c ...
Jingxuan Shan +19 more
wiley +1 more source