Nature genetics, 2001-01, Vol.27 (1), p.18-20
2001
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- Autor(en) / Beteiligte
- Titel
- X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome is the human equivalent of mouse scurfy
- Ist Teil von
- Nature genetics, 2001-01, Vol.27 (1), p.18-20
- Ort / Verlag
- London: Nature Publishing Group
- Erscheinungsjahr
- 2001
- Quelle
- MEDLINE
- Beschreibungen/Notizen
- To determine whether human X-linked neonatal diabetes mellitus, enteropathy and endocrinopathy syndrome (IPEX; MIM 304930) is the genetic equivalent of the scurfy (sf) mouse, we sequenced the human ortholog (FOXP3) of the gene mutated in scurfy mice (Foxp3), in IPEX patients. We found four non-polymorphic mutations. Each mutation affects the forkhead/winged-helix domain of the scurfin protein, indicating that the mutations may disrupt critical DNA interactions.
- Sprache
- Englisch
- Identifikatoren
- ISSN: 1061-4036eISSN: 1546-1718DOI: 10.1038/83707Titel-ID: cdi_proquest_miscellaneous_877600061
- Format
- –
- Schlagworte
- Amino Acid Sequence, Anemia, Animal Diseases - genetics, Animals, Autoimmune diseases, Biological and medical sciences, Birth defects, Complex syndromes, Complications and side effects, Deoxyribonucleic acid, Diabetes, Diabetes Mellitus - congenital, Diabetes Mellitus - genetics, Diagnosis, Disease Models, Animal, DNA, DNA Mutational Analysis, DNA-Binding Proteins - chemistry, DNA-Binding Proteins - genetics, DNA-Binding Proteins - metabolism, endocrinopathy, enteropathy, Forkhead Transcription Factors, FOXP3 gene, Gene mutations, Genetic aspects, Genetic disorders, Genetic Linkage - genetics, Genetics, Humans, Infant, Newborn, Medical genetics, Medical sciences, Mice, Mice, Mutant Strains, Molecular Sequence Data, Mutation, Mutation - genetics, Polyendocrinopathies, Autoimmune - genetics, Protein-Losing Enteropathies - genetics, Publishing, Risk factors, scurfin protein, scurfy syndrome, Sequence Alignment, Syndrome, Thrombocytopenia, X Chromosome - genetics