Category Ranking
98%
Total Visits
921
Avg Visit Duration
2 minutes
Citations
20
Article Abstract
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1001/jamaoncol.2022.3779 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Novel Grm6 Variant in a no b-wave (nob) Mouse Model: Phenotype Characterization and Gene Therapy.
Invest Ophthalmol Vis Sci
September 2025
Department of Ophthalmology, Edward S. Harkness Eye Institute, Vagelos College of Physicians and Surgeons, Columbia University Irving Medical Center, Columbia University, New York, New York, United States.
Purpose: To characterize a no b-wave (nob) mouse model of congenital stationary night blindness (CSNB) caused by a Grm6 variant that disrupts photoreceptor-to-bipolar cell signaling. Additionally, we aim to evaluate the efficacy of gene therapy in restoring visual function.
Methods: The nob mouse was generated through selective breeding to regenerate the nob phenotype.
Polygenic scores in Familial breast cancer cases with and without pathogenic variants and the risk of contralateral breast cancer.
Breast Cancer Res
September 2025
Department of Immunology, Genetics and Pathology, Uppsala University, Uppsala, Sweden.
Background: Polygenic risk scores (PRS) are not yet standard in clinical risk assessments for familial breast cancer in Sweden. This study evaluated the distribution and impact of an established PRS (PRS) in women undergoing clinical sequencing for hereditary breast cancer.
Findings: We integrated PRS into a hereditary breast cancer gene panel used in clinical practice and calculated scores for 262 women.
Evaluating the Effectiveness of an Educational Awareness Program Through Knowledge Change: A Cross-Sectional Study Promoting Breast Awareness.
Cureus
August 2025
Department of Nursing Science, Hirosaki University Graduate School of Health Sciences, Hirosaki, JPN.
Objective In 2020, breast cancer was the most commonly diagnosed cancer among women in Japan. Its incidence begins to rise in the late twenties and reaches a first peak in the late forties. Therefore, fostering sustainable preventive health behaviors from a younger age is crucial.
View Article and Find Full Text PDFAssessment of the Relationship of Cationic Trypsinogen (PRSS1) Gene Polymorphism with Prediabetes and Type 2 Diabetes in the Bangladeshi Population.
Indian J Endocrinol Metab
August 2025
Research and Publication Division, EuGEF Research Foundation, Chattogram, Bangladesh.
Introduction: Cationic trypsinogen () gene mutation is responsible for hereditary pancreatitis (HP) with clinical outcomes like abdominal pain, diabetes mellitus and pancreatic cancer. The present study aims to screen () gene polymorphism in the Bangladeshi population, categorized as normal glucose tolerant (NGT), prediabetes (PD) and type 2 diabetes (T2D).
Methods: Blood was collected from the study subjects with overnight fasting (8-10 h), and 2 h after 75 g glucose intake orally.
Quantifying evidence for phenotypic specificity (PP4) for syndromic phenotypes: Large-scale integration of rare germline FH variants from diagnostic laboratory testing for HLRCC (Hereditary Leiomyomatosis and Renal Cell Cancer) and renal cancer.
Genet Med
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:
Purpose: Hereditary Leiomyomatosis and Renal Cell Cancer (HLRCC) is a rare cancer susceptibility syndrome exclusively attributable to pathogenic variants in FH (HGNC:3700). This paper quantitatively weights the phenotypic context (PP4/PS4) of such very rare variants in FH.
Methods: We collated clinical diagnostic testing data on germline FH variants from 387 individuals with HLRCC and 1,780 individuals with renal cancer, and compared the frequency of 'very rare' variants in each phenotypic cohort against 562,295 population controls.