Tag: diseaseassociated

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Genetic Spectrum of EYS-associated Retinal Disease in a Large Japanese Cohort: Identification of Disease-associated Variants with Relatively High Allele Frequency

Newsemia
Yang, L; Fujinami, K; Ueno, S; Kuniyoshi, K; Hayashi, T; Kondo, M; Mizota, A; … JEGC study group, ; + view all Yang, L; Fujinami,...
Biology

MCC950/CRID3 potently targets the NACHT domain of wild-type NLRP3 but not disease-associated mutants for inflammasome inhibition

Newsemia
by Lieselotte Vande Walle, Irma B. Stowe, Pavel Šácha, Bettina L. Lee, Dieter Demon, Amelie Fossoul, Filip Van Hauwermeiren, Pedro H. V. Saavedra, Petr Šimon,...
Cardiology

Functional analysis of the congenital heart disease‑associated GATA4 H436Y mutation in vitro.

Newsemia
Related Articles Functional analysis of the congenital heart disease‑associated GATA4 H436Y mutation in vitro. Mol Med Rep. 2019 Jul 09;: Authors: Fang T, Zhu Y, Xu...
AI/ML

Discovery of a Novel Periodontal Disease-Associated Bacterium.

Newsemia
Related Articles Discovery of a Novel Periodontal Disease-Associated Bacterium. Microb Ecol. 2019 Jan;77(1):267-276 Authors: Torres PJ, Thompson J, McLean JS, Kelley ST, Edlund A Abstract...
AI/ML

Loss-of-huntingtin in medial and lateral ganglionic lineages differentially disrupts regional interneuron and projection neuron subtypes and promotes Huntington's disease-associated behavioral, cellular and pathological hallmarks.

Newsemia
Related Articles Loss-of-huntingtin in medial and lateral ganglionic lineages differentially disrupts regional interneuron and projection neuron subtypes and promotes Huntington’s disease-associated behavioral, cellular and pathological...

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