Associated Papers
Juvenile-onset Systemic Lupus Erythematosus: Recent Advances in Pathogenesis and Treatment.
Natoli V et al.
Current Rheumatology Reports, 2025
Discriminating activating, deactivating and resistance variants in protein kinases.
Singh G et al.
Genome Medicine, 2025
Rare BLK, CEL, KLF11, PDX1, and PAX4 Gene Variants in Russian Patients with Monogenic Diabetes: Clinical and Molecular Characterization.
Khusainova RI et al.
Biomedicines, 2025
Gene Panel-Based Genotyping of 279 Turkish Maturity-Onset Diabetes of the Young Patients from Eastern Anatolia.
Yarali O et al.
Molecular Syndromology, 2025
A novel BLK heterozygous mutation (p.Met121lle) in maturity-onset diabetes mellitus: A case report and literature review.
Xu F et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2025
A series of reviews in familial cancer: genetic cancer risk in context variants of uncertain significance in MMR genes: which procedures should be followed?
Lucas MC et al.
Familial Cancer, 2025
Whole exome sequencing in patients with childhood-onset systemic lupus erythematosus: Results from a Croatian national study.
Sestan M et al.
Scandinavian Journal of Immunology, 2024
Co-inheritance of Rare Variants of Maturity-Onset Diabetes of the Young (MODY): A Case Report and Review of the Literature.
Alwithenani R et al.
Cureus, 2024
MODY Only Monogenic? A Narrative Review of the Novel Rare and Low-Penetrant Variants.
Hasballa I et al.
International Journal of Molecular Sciences, 2024
The Genetic Spectrum of Maturity-Onset Diabetes of the Young (MODY) in Qatar, a Population-Based Study.
Elashi AA et al.
International Journal of Molecular Sciences, 2022
Insights into the Genetics and Signaling Pathways in Maturity-Onset Diabetes of the Young.
Sousa M et al.
International Journal of Molecular Sciences, 2022
Maturity-Onset Diabetes of the Young: Mutations, Physiological Consequences, and Treatment Options.
Younis H et al.
Journal of Personalized Medicine, 2022
Next Generation Sequencing Analysis of MODY-X Patients: A Case Report Series.
Maltoni G et al.
Journal of Personalized Medicine, 2022
Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY.
Laver TW et al.
Diabetes, 2022
Precision Diagnosis of Maturity-Onset Diabetes of the Young with Next-Generation Sequencing: Findings from the MODY-IST Study in Adult Patients.
Aydogan HY et al.
Omics : a Journal of Integrative Biology, 2022
Low genetic confirmation rate in South Indian subjects with a clinical diagnosis of maturity-onset diabetes of the young (MODY) who underwent targeted next-generation sequencing for 13 genes.
Sampathkumar G et al.
Journal of Endocrinological Investigation, 2022
The Role of BANK1 in B Cell Signaling and Disease.
Gómez Hernández G et al.
Cells, 2021
Clinical features, complications and treatment of rarer forms of maturity-onset diabetes of the young (MODY) - A review.
Aarthy R et al.
Journal of Diabetes and Its Complications, 2021
Exploring a Region on Chromosome 8p23.1 Displaying Positive Selection Signals in Brazilian Admixed Populations: Additional Insights Into Predisposition to Obesity and Related Disorders.
Secolin R et al.
Frontiers in Genetics, 2021
Treatment Options for MODY Patients: A Systematic Review of Literature.
Delvecchio M et al.
Diabetes Therapy : Research, Treatment and Education of Diabetes and Related Disorders, 2020
Rare Tumor-Normal Matched Whole Exome Sequencing Identifies Novel Genomic Pathogenic Germline and Somatic Aberrations.
Sprissler R et al.
Cancers, 2020
A rare combination of MODY5 and duodenal atresia in a patient: a case report.
Du T et al.
Bmc Medical Genetics, 2020
Extensive disruption of protein interactions by genetic variants across the allele frequency spectrum in human populations.
Fragoza R et al.
Nature Communications, 2019
How Recent Advances in Genomics Improve Precision Diagnosis and Personalized Care of Maturity-Onset Diabetes of the Young.
Vaxillaire M et al.
Current Diabetes Reports, 2019
Functional rare and low frequency variants in BLK and BANK1 contribute to human lupus.
Jiang SH et al.
Nature Communications, 2019
Structural Biology Helps Interpret Variants of Uncertain Significance in Genes Causing Endocrine and Metabolic Disorders.
Ittisoponpisan S et al.
Journal of the Endocrine Society, 2018
Comprehensive genomic analysis identifies pathogenic variants in maturity-onset diabetes of the young (MODY) patients in South India.
Mohan V et al.
Bmc Medical Genetics, 2018
Genetic Testing of Maturity-Onset Diabetes of the Young Current Status and Future Perspectives.
Firdous P et al.
Frontiers in Endocrinology, 2018
The SLE variant Ala71Thr of BLK severely decreases protein abundance and binding to BANK1 through impairment of the SH3 domain function.
Díaz-Barreiro A et al.
Genes and Immunity, 2016
Maturity-onset diabetes of the young (MODY): an update.
Anık A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2015
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Many faces of monogenic diabetes.
Schwitzgebel VM
Journal of Diabetes Investigation, 2014
Reassessment of the putative role of BLK-p.A71T loss-of-function mutation in MODY and type 2 diabetes.
Bonnefond A et al.
Diabetologia, 2013
Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein.
Delgado-Vega AM et al.
Annals of the Rheumatic Diseases, 2012
Mutations at the BLK locus linked to maturity onset diabetes of the young and beta-cell dysfunction.
Borowiec M et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
Genetic Spectrum of Inherited Neuropathies in India.
Sharma S et al.
Annals of Indian Academy of Neurology, 0
Cytokine Profile in Patients With Maturity-onset Diabetes of the Young (MODY).
Diren A et al.
In Vivo (athens, Greece), 0