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Proteome-wide assessment of differential missense variant clustering in neurodevelopmental disorders and cancer.
Cell Genom
March 2025
Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA; Intellectual and Developmental Disabilities Research Center, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:
Prior studies examining genomic variants suggest that some proteins contribute to both neurodevelopmental disorders (NDDs) and cancer. While there are several potential etiologies, here, we hypothesize that missense variation in proteins occurs in different clustering patterns, resulting in distinct phenotypic outcomes. This concept was first explored in 1D protein space and expanded using 3D protein structure models.
View Article and Find Full Text PDFA de novo missense variant Ser219Pro in PPP2R1A leads to macrocephaly in Houge-Janssens syndrome type 2.
Clin Dysmorphol
February 2025
Child Neurology Department, Instituto Roosevelt, Bogotá, Colombia.
Rare MTNR1B variants causing diminished MT2 signalling associate with elevated HbA levels but not with type 2 diabetes.
Diabetologia
March 2025
Novo Nordisk Foundation Center for Basic Metabolic Research, Faculty of Health and Medical Sciences, University of Copenhagen, Copenhagen, Denmark.
Aims/hypothesis: An intronic variant (rs10830963) in MTNR1B (encoding the melatonin receptor type 2 [MT2]) has been shown to strongly associate with impaired glucose regulation and elevated type 2 diabetes prevalence. However, MTNR1B missense variants have shown conflicting results on type 2 diabetes. Thus, we aimed to gain further insights into the impact of MTNR1B coding variants on type 2 diabetes prevalence and related phenotypes.
View Article and Find Full Text PDFIntegrating epidemiology and genomics data to estimate the prevalence of acquired cysteine drug targets in the U.S. cancer patient population.
Pharmacogenomics J
March 2025
Yale School of Medicine, New Haven, CT, 06510, USA.
Reliable estimates for the number of cancer patients with a specific mutation can help quantify the size of the population that could potentially benefit from a targeted therapy. We adapt our previously developed approach for estimating gene-level mutation abundances to estimate mutation-specific (e.g.
View Article and Find Full Text PDFAdvances in Understanding the Molecular Dynamics of Autosomal Dominant Auditory Neuropathy: Unveiling a Novel DIAPH3 Gene Variant Associated With Sensorineural Hearing Loss and Bilateral Vestibular Aqueduct Enlargement.
J Audiol Otol
March 2025
Immunopathology and Cancer Biomarkers Unit, Centro di Riferimento Oncologico di Aviano (CRO), IRCCS, Aviano, Italy.
Auditory neuropathy is characterized by abnormal neural conduction in the auditory pathway despite normal outer hair cell function, exhibiting substantial genetic heterogeneity and phenotypic variability. We report the case of a 29-year-old male patient with hearing loss, bilateral enlargement of the vestibular aqueduct (EVA), and vestibular system dysfunction. Based on these features, which are tipically indicative of Pendred syndrome, a molecular investigation including the SLC26A4 gene was performed.
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