Results 31 to 40 of about 596 (125)
A standardized nomenclature for mammalian histone genes
Epigenetics & Chromatin, 2022 Histones have a long history of research in a wide range of species, leaving a legacy of complex nomenclature in the literature. Community-led discussions at the EMBO Workshop on Histone Variants in 2011 resulted in agreement amongst experts on a revised
Ruth L. Seal +9 more
doaj +1 more source
JCPP Advances, EarlyView.Abstract Background Attention‐deficit/hyperactivity disorder (ADHD) and language/reading difficulties frequently co‐occur. The extent of shared genetic architecture remains incompletely defined. We investigated genome‐wide overlap between ADHD and four core skills: word reading, nonword reading, spelling, and phoneme awareness.
Jinzhu Zhao +5 more
wiley +1 more source
Stem Cell Research, 2017 Fibroblasts from a female patient carrying a heterozygous variation in GTP cyclohydrolase 1 (GCH1; OMIM: 600225; HGNC: 4193; c.235_240del/p.(L79_S80del)), the rate-limiting enzyme of tetrahydrobiopterin (BH4) synthesis, were reprogrammed to iPSCs using ...
Sabine Jung-Klawitter +4 more
doaj +1 more source
SkinDB: A Curated Resource for Dermatological Data Warehousing and Bioinformatics Exploration
Med Research, EarlyView.SkinDB is an open‐access transcriptomic database integrating 220 datasets and 11,283 samples across six major skin diseases. Its code‐free interface supports cross‐disease analyses, visualizations, and data downloads for dermatological research. ABSTRACT Dermatology lacks a centralized analysis‐ready transcriptomic resource, leaving publicly available ...
Haoxue Zhang +8 more
wiley +1 more source
, 2021 Gene summary from 21Q1 Rows: 42,423 Columns: 15 $ approved_symbol "INS", "TNF", "IL6", "TP53", "CD4", "AKT1", "CRP", "VEGFA", "EGFR", "NFK… $ approved_name "Insulin", "Tumor necrosis factor", "Interleukin 6", "Tumor
Hirschey, Matthew D
core +1 more source
JACC: Case ReportsMultifocal ectopic Purkinje-related premature contraction (MEPPC) is an autosomal dominant SCN5A channelopathy characterized by frequent multiform premature ventricular contractions originating from the His-Purkinje system.
Hisham Ahamed, MD, DM, Arun Gopi, MD, DM
doaj +1 more source
Revealing topics and their evolution in biomedical literature using Bio-DTM: a case study of ginseng
Chinese Medicine, 2017 Background Valuable scientific results on biomedicine are very rich, but they are widely scattered in the literature. Topic modeling enables researchers to discover themes from an unstructured collection of documents without any prior annotations or ...
Qian Chen +5 more
doaj +1 more source
Medicinal Research Reviews, EarlyView.ABSTRACT The Nav1.5 channel, a major isoform of voltage‐gated sodium ion channel, is mainly found in ventricular cardiomyocytes, playing a key role in generating essential cardiac action potentials for normal heart rhythms. Mutations in Nav1.5 have been associated with severe heart conditions such as long QT syndrome, Brugada syndrome, cardiac ...
Arkapravo Chattopadhyay +3 more
wiley +1 more source
Expanding the genetics and phenotypes of ocular congenital cranial dysinnervation disorders. [PDF]
PURPOSE: This study aimed to identify genetic etiologies and genotype/phenotype associations for unsolved ocular congenital cranial dysinnervation disorders (oCCDDs).
Zhao, Xuefang +39 more
core +2 more sources
Fractura de la articulación del codo infantil : manejo conservador vs quirúrgico del HGNC en el período 2021. [PDF]
, 2023 Introducción: La fractura de la articulación del codo es una lesión común en la infancia debido a la naturaleza activa de los niños, ya sea en casa, la escuela, el campo de juegos o cualquier otro momento.
Insuasti Hidalgo, Esteban Andrés +1 more
core +1 more source