ArticlePloS one2017
Comprehensive Maturity Onset Diabetes of the Young (MODY) Gene Screening in Pregnant Women with Diabetes in India.
Article in PloS one, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 34 citations in OpenAlex.
- A rare homozygousBMJ open diabetes research & care · 2024Article
- Pancreatic agenesis and altered m6A methylation in the pancreas of PDX1-mutant cynomolgus macaques.Zoological research · 2024Article
- Evaluation of Evidence for Pathogenicity Demonstrates That BLK, KLF11, and PAX4 Should Not Be Included in Diagnostic Testing for MODY.Diabetes · 2022Article
- 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.Journal of endocrinological investigation · 2022Article
- First Japanese Family WithJournal of the Endocrine Society · 2022Article
- Identification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a country where diabetes is endemic.Scientific reports · 2021Article
- Contribution of nuclear and mitochondrial gene mutations in mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome.Journal of neurology · 2021Article
- Treatment Options for MODY Patients: A Systematic Review of Literature.Diabetes therapy : research, treatment and education of diabetes and related disorders · 2020Review
- Genetics and Pathophysiology of Maturity-onset Diabetes of the Young (MODY): A Review of Current Trends.Oman medical journal · 2020Review
- Elevated β-cell stress levels promote severe diabetes development in mice with MODY4.The Journal of endocrinology · 2020Article
- The first case of NEUROD1-MODY reported in Latin America.Molecular genetics & genomic medicine · 2019Observational
- Genetics of Monogenic Diabetes: Present Clinical Challenges.Current diabetes reports · 2018Review
- Article
- Our Experiences and Learnings in Diagnosing MODY from Non-Institutional-Based Diabetes Care Clinics.Indian journal of endocrinology and metabolismArticle
Corrections and comments
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Authors and funding
17 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Pregnant women with diabetes may have underlying beta cell dysfunction due to mutations/rare variants in genes associated with Maturity Onset Diabetes of the Young (MODY). MODY gene screening would reveal those women genetically predisposed and previously unrecognized with a monogenic form of diabetes for further clinical management, family screening and genetic counselling. However, there are minimal data available on MODY gene variants in pregnant women with diabetes from India. In this study, utilizing the Next generation sequencing (NGS) based protocol fifty subjects were screened for variants in a panel of thirteen MODY genes. Of these subjects 18% (9/50) were positive for definite or likely pathogenic or uncertain MODY variants. The majority of these variants was identified in subjects with autosomal dominant family history, of whom five were in women with pre-GDM and four with overt-GDM. The identified variants included one patient with HNF1A Ser3Cys, two PDX1 Glu224Lys, His94Gln, two NEUROD1 Glu59Gln, Phe318Ser, one INS Gly44Arg, one GCK, one ABCC8 Arg620Cys and one BLK Val418Met variants. In addition, three of the seven offspring screened were positive for the identified variant. These identified variants were further confirmed by Sanger sequencing. In conclusion, these findings in pregnant women with diabetes, imply that a proportion of GDM patients with autosomal dominant family history may have MODY. Further NGS based comprehensive studies with larger samples are required to confirm these finding.
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