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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
7
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pubmed:dateCreated |
2007-6-28
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pubmed:abstractText |
Neonatal diabetes is a rare disease characterized by hyperglycaemia within the first 3 months of life and requiring insulin treatment; it can either be transient (TNDM) or permanent (PNDM). Alterations at band 6q24 and heterozygous activating mutations in KCNJ11, the gene encoding the pore-forming subunit of the KATP channel, can cause neonatal diabetes. Aims We screened the 6q24 region, KCNJ11, GCK, FOXP3 and IPF1 genes for mutations in families with PNDM or TNDM to establish a phenotype-genotype correlation.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jul
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pubmed:issn |
0742-3071
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pubmed:author |
pubmed-author:AragonésAA,
pubmed-author:BarrioRR,
pubmed-author:BilbaoJ RJR,
pubmed-author:CarlésCC,
pubmed-author:CastanoLL,
pubmed-author:EstalellaII,
pubmed-author:Fernández-RebolloEE,
pubmed-author:FernándezCC,
pubmed-author:FernándezJ MJM,
pubmed-author:GastaldoEE,
pubmed-author:GiraltPP,
pubmed-author:Gomez VidaJ MJM,
pubmed-author:GutiérrezAA,
pubmed-author:López SigueroJ PJP,
pubmed-author:LuzuriagaCC,
pubmed-author:Martínez-AedoM JMJ,
pubmed-author:MuñozMM,
pubmed-author:Pérez de NanclaresGG,
pubmed-author:PrietoJJ,
pubmed-author:RiceEE,
pubmed-author:RodrigoJJ,
pubmed-author:VargasFF
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pubmed:issnType |
Print
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pubmed:volume |
24
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
707-13
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pubmed:meshHeading |
pubmed-meshheading:17490422-DNA Mutational Analysis,
pubmed-meshheading:17490422-Diabetes Mellitus,
pubmed-meshheading:17490422-Female,
pubmed-meshheading:17490422-Genetic Markers,
pubmed-meshheading:17490422-Genetic Predisposition to Disease,
pubmed-meshheading:17490422-Humans,
pubmed-meshheading:17490422-Hyperglycemia,
pubmed-meshheading:17490422-Infant,
pubmed-meshheading:17490422-Infant, Newborn,
pubmed-meshheading:17490422-Male,
pubmed-meshheading:17490422-Mutation, Missense,
pubmed-meshheading:17490422-Pedigree,
pubmed-meshheading:17490422-Polymerase Chain Reaction,
pubmed-meshheading:17490422-Potassium Channels, Inwardly Rectifying,
pubmed-meshheading:17490422-Risk Factors,
pubmed-meshheading:17490422-Spain
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pubmed:year |
2007
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pubmed:articleTitle |
The majority of cases of neonatal diabetes in Spain can be explained by known genetic abnormalities.
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pubmed:affiliation |
Endocrinology and Diabetes Research Group, Hospital de Cruces, Barakaldo, Basque Country, Spain.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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