Results 61 to 70 of about 13,128 (181)
Advanced Science, EarlyView.xx xx. ABSTRACT Autism Spectrum Disorder (ASD) is a neurodevelopmental condition characterized by disrupted neuronal circuit maturation. Emerging evidence implicates microglial function and mitochondrial regulation as contributors to ASD‐associated biology, yet the mechanisms linking these processes to neuronal development remain poorly defined ...
Sydney P. Sterben +4 more
wiley +1 more source
Finding directionality and gene-disease predictions in disease associations [PDF]
, 2015 Understanding the underlying molecular mechanisms in human diseases is important for diagnosis and treatment of complex conditions and has traditionally been done by establishing associations between disorder-genes and their associated diseases.
Garcia-Albornoz, Manuel +1 more
core +1 more source
Advanced Science, EarlyView.Ectodermal tissue excised from Xenopus embryos self‐organizes into a three‐dimensional mucociliary organoid. Here, we generate a neural variant, termed neurobot, by implanting neural precursor cells. Neurobots develop mature neurons, adopt distinct morphologies, exhibit more complex motility, and respond differentially to neuroactive compounds. Imaging
Haleh Fotowat +6 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
Frontiers in Genetics, 2022 Background: Androgen insensitivity syndrome (AIS) is an X-linked recessive hereditary disease caused due to a reduced or absent function of the androgen receptor (AR) protein encoded by the AR gene (OMIM-Gene# 313,700).
Xiaojing He +9 more
doaj +1 more source
Analysis of Uncharacterized mKiaa1211 Expression during Mouse Development and Cardiovascular Morphogenesis [PDF]
, 2019 Mammalian Kiaa1211 and Kiaa1211-like are a homologous pair of uncharacterized, highly conserved genes cloned from fetal and adult brain cDNA libraries.
Conway, Simon J. +3 more
core +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The 1,4,5‐trisphosphate receptor type 1 (ITPR1) gene encodes an endoplasmic reticulum calcium release channel, in which loss‐of‐function mutations have been associated with spinocerebellar ataxias and related neurological phenotypes. Only one gain‐of‐function mutation in the highly conserved suppressor domain of ITPR1 has been previously ...
Emilie T. Théberge +9 more
wiley +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
Biology, 2022 The increasing incorporation of omics technologies into biomedical research and translational medicine presents challenges to end users of the large and complex datasets that are generated by these methods.
Joshua D. Breidenbach +3 more
doaj +1 more source
High-resolution mapping of cancer cell networks using co-functional interactions. [PDF]
, 2018 Powerful new technologies for perturbing genetic elements have recently expanded the study of genetic interactions in model systems ranging from yeast to human cell lines.
Boyle, Evan A +2 more
core +1 more source