Associated Papers
Whole-exome sequencing in children with dyslexia implicates rare variants in CLDN3 and ion channel genes.
Marianski K et al.
Human Genetics, 2025
41442065 (PubMed )
Supplement: 439_2025_2796_MOESM4_ESM.xlsx › ST2
Pathogenic variation in insulin resistance genes is common in polycystic ovary syndrome (PCOS): a strategy for causal gene discovery using whole-exome sequencing (WES) in complex traits.
Bauer R et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
40832409 (PubMed )
Supplement: media-1.xlsx › S4_-_Variants_Identified
Rare MTNR1B variants causing diminished MT2 signalling associate with elevated HbA1c levels but not with type 2 diabetes.
Sørensen KV et al.
Diabetologia, 2025
Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.
Dembic M et al.
Molecular Genetics and Genomics : Mgg, 2023
36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_variants
Structural Elements Directing G Proteins and β-Arrestin Interactions with the Human Melatonin Type 2 Receptor Revealed by Natural Variants.
Plouffe B et al.
Acs Pharmacology & Translational Science, 2022
Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.
Akhavanfard S et al.
Nature Communications, 2020
32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM23_ESM.xlsx › Supplementary_Data_20
Genetic variants affecting equivalent protein family positions reflect human diversity.
Raimondi F et al.
Scientific Reports, 2017
28986545 (PubMed )
Supplement: 41598_2017_12971_MOESM2_ESM.xlsx › S5b
Patients with genetically heterogeneous synchronous colorectal cancer carry rare damaging germline mutations in immune-related genes.
Cereda M et al.
Nature Communications, 2016
27377421 (PubMed )
Supplement: ncomms12072-s6.xlsx › Supplementary_Data_5
Minireview: Toward the establishment of a link between melatonin and glucose homeostasis: association of melatonin MT2 receptor variants with type 2 diabetes.
Karamitri A et al.
Molecular Endocrinology (baltimore, Md.), 2013
Rare MTNR1B variants impairing melatonin receptor 1B function contribute to type 2 diabetes.
Bonnefond A et al.
Nature Genetics, 2012
MTNR1B G24E variant associates With BMI and fasting plasma glucose in the general population in studies of 22,142 Europeans.
Andersson EA et al.
Diabetes, 2010
[Involvement of melatonin MT2 receptor mutants in type 2 diabetes development].
Karamitri A et al.
Medecine Sciences : M/s, 0
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