LRRK2 Loss‐of‐Function Variants: When Less Is More
Sign Up to like & getrecommendations! Published in 2020 at "Movement Disorders"
DOI: 10.1002/mds.28291
Abstract: Gain-of-function variants in leucine-rich repeat kinase 2 (LRRK2) are the most common monogenic cause of Parkinson’s disease (PD), albeit with incomplete penetrance, indicating that reduction of LRRK2 kinase activity is a reasonable therapeutic strategy for… read more here.
Keywords: lof variants; lrrk2 lof; function variants; lrrk2 ... See more keywords
Exome sequencing and characterization of 49,960 individuals in the UK Biobank
Sign Up to like & getrecommendations! Published in 2020 at "Nature"
DOI: 10.1038/s41586-020-2853-0
Abstract: The UK Biobank is a prospective study of 502,543 individuals, combining extensive phenotypic and genotypic data with streamlined access for researchers around the world 1 . Here we describe the release of exome-sequence data for the… read more here.
Keywords: sequencing characterization; exome sequencing; lof variants; characterization 960 ... See more keywords
Association of KMT2C/D loss‐of‐function variants with response to immune checkpoint blockades in colorectal cancer
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DOI: 10.1111/cas.15716
Abstract: Immune checkpoint inhibitors (ICIs) have become important treatment strategies, yet responses vary among patients and predictive biomarkers are urgently needed. Mutations in KMT2C and KMT2D lead to increased levels of genomic instability. Therefore, we aimed… read more here.
Keywords: lof variants; kmt2c lof; colorectal cancer; association ... See more keywords
Variants in HNRNPH1 are associated with high myopia in humans and ocular coloboma in zebrafish
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DOI: 10.1111/cge.14213
Abstract: High myopia is one of the most common causes for blindness due to its associated complications. Genetic factor has been considered as the major cause for early‐onset high myopia (eoHM), but exact genetic defects for… read more here.
Keywords: high myopia; ocular coloboma; lof variants; hnrnph1 associated ... See more keywords
The frequency of CYP2C19 loss-of-function variants in patients with non-cardioembolic ischemic stroke or transient ischemic attack in the Dutch population.
Sign Up to like & getrecommendations! Published in 2023 at "Cerebrovascular diseases"
DOI: 10.1159/000529892
Abstract: INTRODUCTION The CYP2C19 enzyme converts clopidogrel into an active metabolite. Carriers of CYP2C19 loss-of-function (LOF) variants with a history of ischemic stroke or transient ischemic attack (TIA) using clopidogrel may have a higher risk of… read more here.
Keywords: cyp2c19 lof; lof variants; stroke; stroke tia ... See more keywords
Distinguishing Loss-of-Function and Gain-of-Function SCN8A Variants Using a Random Forest Classification Model Trained on Clinical Features
Sign Up to like & getrecommendations! Published in 2023 at "Neurology: Genetics"
DOI: 10.1212/nxg.0000000000200060
Abstract: Background and Objectives Pathogenic variants at the voltage-gated sodium channel gene, SCN8A, are associated with a wide spectrum of clinical disease outcomes. A critical challenge for neurologists is to determine whether patients carry gain-of-function (GOF)… read more here.
Keywords: function; gain function; loss function; lof variants ... See more keywords