Category Ranking

98%

Total Visits

921

Avg Visit Duration

2 minutes

Citations

20

Article Abstract

Download full-text PDF

Source
http://dx.doi.org/10.1111/age.13478DOI Listing

Publication Analysis

Top Keywords

allele frequencies
4
frequencies prlr
4
prlr truncating
4
truncating variants
4
variants heat-tolerant
4
heat-tolerant taurine
4
taurine cattle
4
cattle native
4
native latin
4
latin america
4

Similar Publications

Beyond their classical functions as redox cofactors, recent fundamental and clinical research has expanded our understanding of the diverse roles of nicotinamide adenine dinucleotide (NAD) and nicotinamide adenine dinucleotide phosphate (NADP) in signaling pathways, epigenetic regulation and energy homeostasis. Moreover, NAD and NADP influence numerous diseases as well as the processes of aging, and are emerging as targets for clinical intervention. Here, we summarize safety, bioavailability and efficacy data from NAD-related clinical trials, focusing on aging and neurodegenerative diseases.

View Article and Find Full Text PDF

Characterization of the extrinsic and intrinsic signatures and therapeutic vulnerability of small cell lung cancers.

Signal Transduct Target Ther

September 2025

State Key Laboratory of Molecular Oncology & Department of Medical Oncology & Department of Pathology, National Cancer Center/National Clinical Research Center for Cancer/Cancer Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.

Small-cell lung cancer (SCLC), an aggressive neuroendocrine tumor strongly associated with exposure to tobacco carcinogens, is characterized by early dissemination and dismal prognosis with a five-year overall survival of less than 7%. High-frequency gain-of-function mutations in oncogenes are rarely reported, and intratumor heterogeneity (ITH) remains to be determined in SCLC. Here, via multiomics analyses of 314 SCLCs, we found that the ASCL1/MKI67 and ASCL1/CRIP2 clusters accounted for 74.

View Article and Find Full Text PDF

Background: Nasopharyngeal carcinoma (NPC) pathogenesis is multi-factorial, involving synergistic interactions among genetic susceptibility, Epstein-Barr virus (EBV) infection, and environmental exposures. Notably, specific multi-generational families exhibit NPC incidence substantially exceeding both sporadic cases and general genetic susceptibility cohorts, demonstrating Mendelian inheritance patterns. This supports the hypothesis that high penetrance pathogenic variants dominate disease initiation and progression in familial NPC.

View Article and Find Full Text PDF

Availability of benign missense variant "truthsets" for validation of functional assays: Current status and a systematic approach.

Am J Hum Genet

September 2025

Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK; The Royal Marsden NHS Foundation Trust, Fulham Road, London, UK. Electronic address:

Multiplex assays of variant effect (MAVEs) provide promising new sources of functional evidence, potentially empowering improved classification of germline genomic variants, particularly rare missense variants, which are commonly assigned as variants of uncertain significance (VUSs). However, paradoxically, quantification of clinically applicable evidence strengths for MAVEs requires construction of "truthsets" comprising missense variants already robustly classified as pathogenic and benign. In this study, we demonstrate how benign truthset size is the primary driver of applicable functional evidence toward pathogenicity (PS3).

View Article and Find Full Text PDF

Mevalonate kinase deficiency in a familial Mediterranean fever endemic region: a single-center experience.

Turk J Pediatr

September 2025

Division of Pediatric Rheumatology, Department of Pediatrics, Cerrahpaşa Faculty of Medicine, İstanbul University-Cerrahpaşa, İstanbul, Türkiye.

Background: We aimed to document childhood onset mevalonate kinase deficiency (MKD) and to explore treatment responses and diagnostic challenges in regions endemic to familial Mediterranean fever (FMF).

Methods: This retrospective study included patients under 18 years of age, diagnosed with MKD and followed for at least six months at the pediatric rheumatology department of Istanbul University - Cerrahpaşa Medical Faculty between 2016 and 2024.

Results: Of 33 patients, 51.

View Article and Find Full Text PDF