Results 101 to 110 of about 34,778 (266)
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT SHOX gene haploinsufficiency is associated with Léri‐Weill dyschondrosteosis (LWD) or idiopathic short stature (ISS) and could be caused by the structural and point mutations in the coding region and by the deletions in SHOX gene regulatory sequences. The role of the duplications in regulatory sequences is ambivalent.
Valeriia Kopytko +3 more
wiley +1 more source
Identification of a small RNA containing the trypanosome spliced leader: a donor of shared 5' sequences of trypanosomatid mRNAs? [PDF]
, 1984 The 35 nucleotide spliced leader (SL) sequence is found on the 5' end of numerous trypanosome mRNAs, yet the tandemly organized reiteration units encoding this leader are not detectably linked to any of these structural genes. Here we report the presence
Agabian, N +4 more
core
Annals of Neurology, EarlyView.Objective Mutations in TARDBP (encoding TDP‐43) are associated with the neurodegenerative disease amyotrophic lateral sclerosis (ALS) and include familial missense mutations where there are a lack of models and mechanisms examining how they are pathogenic.
Ziyaan A. Harji +10 more
wiley +1 more source
Annals of Neurology, EarlyView.Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell +3 more
wiley +1 more source
Mucin Glycoprotein Nanoparticles Enable a Selective Antisense Therapy for Oncogenic MicroRNAs
Advanced NanoBiomed Research, EarlyView.Mucin glycoproteins are turned into nanoparticles by employing synthetic DNA strands, which have a dual function: they stabilize the nanoparticles and act as binding sites for intracellular miRNA‐21. Thus, upon internalization into tumor cells, these mucin nanoparticles can deplete miRNA‐21 from the cytosol, which induces apoptosis in vitro and in vivo.
Ceren Kimna +9 more
wiley +1 more source
Evidence that neuronal G-protein-gated inwardly rectifying K+ channels are activated by Gβγ subunits and function as heteromultimers [PDF]
, 1995 Guanine nucleotide-binding proteins (G proteins) activate K+ conductances in cardiac atrial cells to slow heart rate and in neurons to decrease excitability. cDNAs encoding three isoforms of a G-protein-coupled, inwardly rectifying K+ channel (GIRK) have
Davidson, Norman +2 more
core
Applications in Plant Sciences, EarlyView.Abstract Premise Detecting clear tissue‐ and organ‐specific patterns of gene expression is key to understanding the genetic mechanisms that control plant development. In situ hybridization (ISH) of mRNA is one of the most precise, yet most challenging approaches to gene expression assays.
Brooklyn M. Anaya +3 more
wiley +1 more source
Transposable Elements, Inflammation, and Neurological Disease. [PDF]
, 2019 Transposable Elements (TE) are mobile DNA elements that can replicate and insert themselves into different locations within the host genome. Their propensity to self-propagate has a myriad of consequences and yet their biological significance is not well-
Macia, Angela +2 more
core
The Role of miRNAs in Chicken Immune Regulation and Prospects for Disease‐Resistant Breeding
Animal Research and One Health, EarlyView.A schematic workflow illustrating the screening of disease‐resistant miRNAs and the generation of miRNA‐based disease‐resistant chickens via PGC‐mediated germline genome editing. ABSTRACT MicroRNAs (miRNAs) are emerging as pivotal regulators of the immune system, playing a decisive role in shaping disease resistance in chicken.
Qiangzhou Wang +10 more
wiley +1 more source