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GenomicsWhole Exome Sequencing of Permanent Neonatal Diabetes Patients
Whole Exome Sequencing of Permanent Neonatal Diabetes Patients
EGAS00001000047 | EGA
GenomicNext Generation Mendelian Genetics: Neonatal Diabetes

The NHGRI Next Generation Mendelian Genetics project uses exome resequencing to identify variants in unsolved Mendelian diseases.

Neonatal diabetes mellitus (ND) is a rare form of monogenic diabetes (90,000-260,000 live births) that is diagnosed in the first 6 months of life. The disease h...

phs000542 | dbGaP
GenomicsEGAS00001000047-sc-20130423 - samples
Whole Exome Sequencing of Permanent Neonatal Diabetes Patients
EGAD00001000382 | EGA
UnknownPermanent neonatal diabetes mellitus: prevalence and genetic diagnosis in the SEARCH for Diabetes in Youth Study.
Not available
S-EPMC4101463 | biostudies-literature
ProteomicsVitreous proteome of transgenic INSC94Y pigs compared to wild type
INSC94Y transgenic pigs serve as a valuable model for permanent neonatal diabetes mellitus. Through genetically engineered modifications in the insulin (INS) gene, this model presents with impaired insulin secretion, resulting elevated fasting blood-glucose levels (hyperglycemia) [1].One of the seve...
ORGANISM(S): Sus scrofa domesticus (domestic pig) 
2024-08-27 | PXD038198 | Pride
Quantitative label-free lc-ms/ms  diabetes mellitus  permanent neonatal diabetes  diabetic retinopathy  genetically modified pig  insc94y  porcine model  vitreous 
UnknownMutations in the ABCC8 gene encoding the SUR1 subunit of the KATP channel cause transient neonatal diabetes, permanent neonatal diabetes or permanent diabetes diagnosed outside the neonatal period.
Not available
S-EPMC7611803 | biostudies-literature
UnknownTrisomy 21 Is a Cause of Permanent Neonatal Diabetes That Is Autoimmune but Not HLA Associated.
Not available
S-EPMC6609990 | biostudies-literature
UnknownPermanent Neonatal Diabetes and Enteric Anendocrinosis Associated With Biallelic Mutations in NEUROG3.
Not available
S-EPMC3064109 | biostudies-literature
TranscriptomicsIntermittent neonatal hypoxia elicits the upregulation of inflammatory-related genes in the adult rat through long-lasting programming effects
The long-term effects of neonatal intermittent hypoxia (IH), an accepted model of apnea-induced hypoxia, are unclear. We have previously shown lasting “programming” effects on the HPA axis in adult rats exposed to neonatal IH. We hypothesized that neonatal rat exposure to IH will subsequently re...
ORGANISM(S): Rattus norvegicus 
2016-01-07 | E-GEOD-74145 | biostudies-arrayexpress
UnknownSeven mutations in the human insulin gene linked to permanent neonatal/infancy-onset diabetes mellitus.
Not available
S-EPMC2350430 | biostudies-literature
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