Associated Papers
A novel pathogenic DICER1 gene variant is associated with hereditary multinodular goiter in an Argentine family as evidenced by clinical, biochemical and molecular genetic analysis.
Targovnik HM et al.
Endocrine, 2025
A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome.
Chimienti R et al.
Diabetologia, 2025
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
Combined MITOchondrial-NUCLEAR (MITO-NUCLEAR) Analysis for Mitochondrial Diseases Diagnosis: Validation and Implementation of a One-Step NGS Method.
Barretta F et al.
Genes, 2023
Evaluation of Type 2 Diabetes Risk Variants (Alleles) in the Pashtun Ethnic Population of Pakistan.
Jan A et al.
Journal of the Asean Federation of Endocrine Societies, 2023
A novel splice site variant c.1183 + 1 G > C in DFNA5 causing autosomal dominant nonsyndromic hearing loss in a Chinese family.
Li Q et al.
Bmc Medical Genomics, 2022
A novel missense variant in CEACAM16 gene causes autosomal dominant nonsyndromic hearing loss.
Zhang D et al.
Annals of Human Genetics, 2022
Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.
Bateman NW et al.
Iscience, 2022
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1.
Gong Y et al.
Bmc Endocrine Disorders, 2021
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
Whole exome sequencing reveals novel candidate gene variants for MODY.
Yalçın Çapan Ö et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
Characterization of an induced pluripotent stem cell line (IMBPASi001-A) derived from fibroblasts of a patient affected by Wolfram Syndrome.
Grzela DP et al.
Stem Cell Research, 2020
Discovery of 318 new risk loci for type 2 diabetes and related vascular outcomes among 1.4 million participants in a multi-ancestry meta-analysis.
Vujkovic M et al.
Nature Genetics, 2020
Deciphering genetic signatures by whole exome sequencing in a case of co-prevalence of severe renal hypouricemia and diabetes with impaired insulin secretion.
Sekiya M et al.
Bmc Medical Genetics, 2020
Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing.
Li S et al.
Bmc Medical Genetics, 2019
Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.
Flannick J et al.
Nature, 2019
CALCA and TRPV1 genes polymorphisms are related to a good outcome in female chronic migraine patients treated with OnabotulinumtoxinA.
Moreno-Mayordomo R et al.
The Journal of Headache and Pain, 2019
Identification of novel compound heterozygous SPG7 mutations-related hereditary spastic paraplegia in a Chinese family: a case report.
Zhang X et al.
Bmc Neurology, 2018
Identification of a missense variant in the WFS1 gene that causes a mild form of Wolfram syndrome and is associated with risk for type 2 diabetes in Ashkenazi Jewish individuals.
Bansal V et al.
Diabetologia, 2018
Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes.
Mahajan A et al.
Nature Genetics, 2018
Functional annotation of sixty-five type-2 diabetes risk SNPs and its application in risk prediction.
Wu Y et al.
Scientific Reports, 2017
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
WFS1 mutations in hearing-impaired children.
Häkli S et al.
International Journal of Audiology, 2014
Calcium efflux from the endoplasmic reticulum leads to β-cell death.
Hara T et al.
Endocrinology, 2014
Wolfram syndrome in the Japanese population; molecular analysis of WFS1 gene and characterization of clinical features.
Matsunaga K et al.
Plos One, 2014
A low-frequency GLIS3 variant associated with resistance to Japanese type 1 diabetes.
Awata T et al.
Biochemical and Biophysical Research Communications, 2013
WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims.
Kytövuori L et al.
Journal of Human Genetics, 2013
Identification of homozygous WFS1 mutations (p.Asp211Asn, p.Gln486*) causing severe Wolfram syndrome and first report of male fertility.
Haghighi A et al.
European Journal of Human Genetics : Ejhg, 2013
Clinical and molecular genetic analysis of a new mutation in children with Wolfram syndrome: a case report.
Xu Q et al.
Molecular Medicine Reports, 2013
The lessons of early-onset monogenic diabetes for the understanding of diabetes pathogenesis.
Vaxillaire M et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2012
Novel mutations of wolframin: a report with a look at the protein structure.
Alimadadi A et al.
Clinical Genetics, 2011
Monogenic diabetes in the young, pharmacogenetics and relevance to multifactorial forms of type 2 diabetes.
Vaxillaire M et al.
Endocrine Reviews, 2008
Replication of the association between variants in WFS1 and risk of type 2 diabetes in European populations.
Franks PW et al.
Diabetologia, 2008
Testing of diabetes-associated WFS1 polymorphisms in the Diabetes Prevention Program.
Florez JC et al.
Diabetologia, 2008
Common variants in WFS1 confer risk of type 2 diabetes.
Sandhu MS et al.
Nature Genetics, 2007
Two families with nonsyndromic low-frequency hearing loss harbor novel mutations in Wolfram syndrome gene 1.
Gürtler N et al.
Journal of Molecular Medicine (berlin, Germany), 2005
Polymorphisms in wolframin (WFS1) gene are possibly related to increased risk for mood disorders.
Koido K et al.
The International Journal of Neuropsychopharmacology, 2005
Evidence for linkage on chromosome 4p16.1 in Type 1 diabetes Danish families and complete mutation scanning of the WFS1 (Wolframin) gene.
Larsen ZM et al.
Diabetic Medicine : a Journal of the British Diabetic Association, 2004
Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.
Cryns K et al.
Human Mutation, 2003
Association studies of genetic variation in the WFS1 gene and type 2 diabetes in U.K. populations.
Minton JA et al.
Diabetes, 2002