Efficacy of Acoramidis in Wild-Type and Variant Transthyretin Amyloid Cardiomyopathy: Results From ATTRibute-CM and Its Open-Label Extension.
Sign Up to like & getrecommendations! Published in 2025 at "JAMA cardiology"
DOI: 10.1001/jamacardio.2025.4477
Abstract: This study evaluates the efficacy of acoramidis in transthyretin amyloid cardiomyopathy with wild-type, transthyretin amyloid cardiomyopathy with variant, and variant subgroups (p.Val142Ile and non-p.Val142Ile). read more here.
Keywords: variant; amyloid cardiomyopathy; efficacy acoramidis; wild type ... See more keywords
Portable Breath-Based Volatile Organic Compound Monitoring for the Detection of COVID-19 During the Circulation of the SARS-CoV-2 Delta Variant and the Transition to the SARS-CoV-2 Omicron Variant
Sign Up to like & getrecommendations! Published in 2023 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2023.0982
Abstract: Key Points Question Can volatile organic compounds (VOCs) in exhaled breath provide diagnostic information on COVID-19 disease and SARS-CoV-2 variants? Findings In this diagnostic study with 167 participants, 4 VOC biomarkers were found to distinguish… read more here.
Keywords: omicron variant; breath; variant; covid ... See more keywords
Identification of an RSPH4A Founder Variant and Newborn Screening for Primary Ciliary Dyskinesia
Sign Up to like & getrecommendations! Published in 2025 at "JAMA Network Open"
DOI: 10.1001/jamanetworkopen.2025.30551
Abstract: This cross-sectional study estimates the prevalence of an RSPH4A variant identified in Puerto Rico in an effort to evaluate the feasibility of targeted newborn screening for primary ciliary dyskinesia (PCD). read more here.
Keywords: newborn screening; ciliary dyskinesia; rsph4a; screening primary ... See more keywords
In vivo evidence for glycyl radical insertion into a catalytically inactive variant of pyruvate formate‐lyase
Sign Up to like & getrecommendations! Published in 2025 at "Febs Letters"
DOI: 10.1002/1873-3468.70075
Abstract: The dimeric glycyl radical enzyme pyruvate formate‐lyase (PflB; formate acetyltransferase 1) cleaves pyruvate with hypothetical half‐site reactivity to formate and acetyl‐CoA. The radical introduced onto residue G734 of PflB is transiently transferred to C419 of… read more here.
Keywords: formate lyase; variant; formate; glycyl radical ... See more keywords
An Engineered Alcohol Oxidase for the Oxidation of Primary Alcohols
Sign Up to like & getrecommendations! Published in 2019 at "ChemBioChem"
DOI: 10.1002/cbic.201800556
Abstract: Structure‐guided directed evolution of choline oxidase has been carried out by using the oxidation of hexan‐1‐ol to hexanal as the target reaction. A six‐amino‐acid variant was identified with a 20‐fold increased kcat compared to that… read more here.
Keywords: oxidase; engineered alcohol; oxidation; alcohol oxidase ... See more keywords
A Novel Homozygous TBC1D2B Variant Disrupts Functional Domains and Suggests Impaired Rab‐GTPase Regulation in Neurodevelopmental Disorder
Sign Up to like & getrecommendations! Published in 2025 at "Developmental Neurobiology"
DOI: 10.1002/dneu.22998
Abstract: Recent reports have linked biallelic loss‐of‐function variants in the TBC1D2B gene to neurodevelopmental disorder with seizures and gingival overgrowth (NEDSGO) (OMIM 619323), a rare condition characterized by seizures and gingival hyperplasia. However, due to the… read more here.
Keywords: variant; disorder; functional domains; neurodevelopmental disorder ... See more keywords
Augmented neutralization of SARS‐CoV‐2 Omicron variant by boost vaccination and monoclonal antibodies
Sign Up to like & getrecommendations! Published in 2022 at "European Journal of Immunology"
DOI: 10.1002/eji.202249841
Abstract: Effective vaccines and monoclonal antibodies have been developed against coronavirus disease 2019 (COVID‐19) caused by severe acute respiratory syndrome coronavirus 2 (SARS‐CoV‐2). However, the appearance of virus variants with higher transmissibility and pathogenicity is a… read more here.
Keywords: omicron variant; omicron; vaccination; variant ... See more keywords
Integrating external controls in case–control studies improves power for rare‐variant tests
Sign Up to like & getrecommendations! Published in 2022 at "Genetic Epidemiology"
DOI: 10.1002/gepi.22444
Abstract: Large‐scale sequencing and genotyping data provide an opportunity to integrate external samples as controls to improve power of association tests. However, due to the systematic differences between genotyped samples from different studies, naively aggregating the… read more here.
Keywords: rare variant; power; external controls; variant ... See more keywords
Equivalent missense variant in the FOXP2 and FOXP1 transcription factors causes distinct neurodevelopmental disorders
Sign Up to like & getrecommendations! Published in 2017 at "Human Mutation"
DOI: 10.1002/humu.23303
Abstract: The closely related paralogues FOXP2 and FOXP1 encode transcription factors with shared functions in the development of many tissues, including the brain. However, while mutations in FOXP2 lead to a speech/language disorder characterized by childhood… read more here.
Keywords: transcription factors; variant; foxp2 foxp1;
The BRCA2 c.68‐7T > A variant is not pathogenic: A model for clinical calibration of spliceogenicity
Sign Up to like & getrecommendations! Published in 2018 at "Human Mutation"
DOI: 10.1002/humu.23411
Abstract: Although the spliceogenic nature of the BRCA2 c.68‐7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study, we accurately quantified by real‐time PCR and digital PCR (dPCR), the… read more here.
Keywords: cancer risk; brca2 variant; brca2; variant ... See more keywords
Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24235
Abstract: Biallelic loss of function variants in TRIP11 encoding for the Golgi microtubule‐associated protein 210 (GMAP‐210) causes the lethal chondrodysplasia achondrogenesis type 1A (ACG1A). Loss of TRIP11 activity has been shown to impair Golgi structure, vesicular… read more here.
Keywords: 5457 81t; deep intronic; variant 5457; variant ... See more keywords