Bilirubin Targeting WNK1 to Alleviate NLRP3‐Mediated Neuroinflammation
Advanced Science, EarlyView.At physiological concentrations, bilirubin binds to the kinase domain of WNK1, thereby augmenting its activity and facilitating the phosphorylation of downstream SPAK/OSR1. This phosphorylation inhibits KCC2 activity, leading to elevate intracellular chloride levels in neurons.
Linfei Mao +14 more
wiley +1 more source
Single Nucleotide Polymorphisms: A Deep Consideration of Protein Sequence Variation [PDF]
Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī YazdIntroduction: Human genome consists of the three billion base pairs that has about one percent of genetic variation from one person to another، which determines physical، psychological، and susceptibility to diseases. Among the types of genetic diversity,
Majid Marzban Sarnaghi +3 more
doaj
AAVR Expression is Essential for AAV Vector Transduction in Sensory Hair Cells
Advanced Science, EarlyView.Decreased sensitivity to AAV vector transduction in the outer hair cells (OHCs) of adult mice is primarily attributed to reduction of AAVR (Kiaa0319l; Au040320). Knockout of AAVR reduces AAV vector transduction efficiency in both inner hair cells (IHCs) and OHCs in neonatal mice.
Fan Wu +8 more
wiley +1 more source
Designer Exons Inform a Biophysical Model for Exon Definition
, 2013 Pre-mRNA molecules in humans contain mostly short internal exons flanked by long introns. To explain the removal of such introns, recognition of the exons instead of recognition of the introns has been proposed. This thesis studies this exon definition mechanism using a bottom-up approach.
openaire +3 more sources
Advanced Science, EarlyView.Wei et al. establish a hair cell‐specific conditional knockout mouse model (Atp6v1b2fl/fl;Atoh1Cre/+), and demonstrate the importance of Atp6v1b2 for hair cell through maintaining the survival of lysosomes. A single administration of AAV‐ie‐Eh3‐mAtp6v1b2 through scala media at P0‐P2 realizes function compensation and restores hearing and balance ...
Gege Wei +15 more
wiley +1 more source
Structural organization, expression, and functional characterization of the murine cytomegalovirus immediate-early gene 3. [PDF]
, 1992 We have previously defined ie3 as a coding region located downstream of the ie1 gene which gives rise to a 2.75-kb immediate-early (IE) transcript. Here we describe the structural organization of the ie3 gene, the amino acid sequence of the gene product,
Bühler, Bernhard +3 more
core +1 more source
Finnish type of low density lipoprotein receptor gene mutation (FH-Helsinki) deletes exons encoding the carboxy-terminal part of the receptor and creates an internalization-defective phenotype. [PDF]
, 1989 Katriina Aalto‐Setälä +3 more
openalex +1 more source
Advanced Science, EarlyView.Overview of the Genetic Deafness Commons (GDC), integrating data from the Chinese Deafness Genetics Consortium (CDGC) and 51 public databases. The GDC provides tools for variant search, functional predictions, and gene‐disease visualization, offering insights into 201 hearing loss genes and facilitating novel gene discovery and clinical applications ...
Hui Cheng +11 more
wiley +1 more source
Gene structure for the alpha 1 chain of a human short-chain collagen (type XIII) with alternatively spliced transcripts and translation termination codon at the 5' end of the last exon. [PDF]
, 1988 Liisa Tikka +4 more
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Advanced Science, EarlyView.This study shows that gene replacement therapy using the AAV2/Anc80L65 virus can successfully restore hearing and balance in Ush1c knockout mice. The treatment leads to lasting improvements in both auditory and vestibular functions, highlighting its potential as a therapeutic approach for genetic hearing loss and vestibular disorders in humans ...
Weinan Du +13 more
wiley +1 more source