KDM4A Erases the H3R17me2a Mark, Facilitating Chromosome Condensation
Advanced Science, EarlyView.This study reveals a reversible histone modification switch governing chromosome condensation during mitosis. PKCα‐activated KDM4A removes H3R17me2a, permitting Suv39h1‐driven H3K9me3 deposition. This epigenetic transition recruits the chromosomal passenger complex and triggers Aurora B‐dependent H3S10 phosphorylation, coordinating chromatin remodeling
Yena Cho +6 more
wiley +1 more source
Molecular Genetics & Genomic Medicine, 2020 Background Multiple sulfatase deficiency (MSD, MIM #272200) is an ultrarare congenital disorder caused by SUMF1 mutation and often misdiagnosed due to its complex clinical presentation.
Orna Staretz‐Chacham +7 more
doaj +1 more source
Global Burden Related to Nitrous Oxide Exposure in Medical and Recreational Settings: A Systematic Review and Individual Patient Data Meta-Analysis. [PDF]
, 2019 The risk of adverse effects of nitrous oxide (N2O) exposure is insufficiently recognized despite its widespread use. These effects are mainly reported through case reports. We conducted an individual patient data meta-analysis to assess the prevalence of
Filhine-Tresarrieu, Pierre +10 more
core +3 more sources
Advanced Science, EarlyView.Hepatocytes are subjected to increased membrane tension along with lipid accumulation. Loss of PIEZO1 exacerbates high‐fat diet‐induced MASLD in mice. Activation of PIEZO1 alleviates high‐fat diet‐induced MASLD in mice. PIEZO1 negatively regulates de novo lipogenesis through activation of CaMKK2‐AMPK pathway. ABSTRACT Liver is a central organ for lipid
Hui Chen +14 more
wiley +1 more source
Dopa-responsive dystonia and hyperprolactinaemia : a novel association in two sisters [PDF]
, 2007 Dopa-Responsive Dystonia (DRD) is a rare hereditary condition of childhood-onset dystonia which responds dramatically to treatment with levodopa. It was first described in 1971 as a "hereditary progressive basal ganglia disease with marked diurnal ...
Cachia, Mario J., Galea, Janabel
core
The case for early use of rapid whole-genome sequencing in management of critically ill infants: late diagnosis of Coffin-Siris syndrome in an infant with left congenital diaphragmatic hernia, congenital heart disease, and recurrent infections. [PDF]
, 2018 Congenital diaphragmatic hernia (CDH) results from incomplete formation of the diaphragm leading to herniation of abdominal organs into the thoracic cavity. CDH is associated with pulmonary hypoplasia, congenital heart disease, and pulmonary hypertension.
Campo, Miguel Del +7 more
core +2 more sources
Genetic Diagnosis and Discovery Enabled by Large Language Models
Advanced Science, EarlyView.We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu +25 more
wiley +1 more source
The congenital muscular dystrophies
Annals of the Child Neurology SocietyBackground Congenital muscular dystrophies (CMDs) are genetically and clinically heterogeneous inherited conditions. Onset is typically within the first year of life.
Haluk Topaloğlu, Bita Poorshiri
doaj +1 more source
Sedation in a Patient with Prader-Willi Syndrome: A Case Report
Haseki Tıp Bülteni, 2014 Prader-Willi syndrome (PWS) is a rare disorder characterized by hypotonia, growth retardation, characteristic face shape, hypogonadism, hyperphagia and related morbid obesity.
Hayrettin Daşkaya +3 more
doaj +1 more source
Loss-of-function mutations in Lysyl-tRNA synthetase cause various leukoencephalopathy phenotypes [PDF]
, 2019 Objective: To expand the clinical spectrum of lysyl-tRNA synthetase (KARS) gene–related diseases, which so far includes Charcot-Marie-Tooth disease, congenital visual impairment and microcephaly, and nonsyndromic hearing impairment.
Antonellis, Anthony +29 more
core +1 more source