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PMID:15654336
| Citation |
Entesarian, M, Matsson, H, Klar, J, Bergendal, B, Olson, L, Arakaki, R, Hayashi, Y, Ohuchi, H, Falahat, B, Bolstad, AI, Jonsson, R, Wahren-Herlenius, M and Dahl, N (2005) Mutations in the gene encoding fibroblast growth factor 10 are associated with aplasia of lacrimal and salivary glands. Nat. Genet. 37:125-7 |
|---|---|
| Abstract |
Autosomal dominant aplasia of lacrimal and salivary glands (ALSG; OMIM 180920 and OMIM 103420) is a rare condition characterized by irritable eyes and dryness of the mouth. We mapped ALSG to 5p13.2-5q13.1, which coincides with the gene fibroblast growth factor 10 (FGF10). In two extended pedigrees, we identified heterozygous mutations in FGF10 in all individuals with ALSG. Fgf10(+/-) mice have a phenotype similar to ALSG, providing a model for this disorder. We suggest that haploinsufficiency for FGF10 during a crucial stage of development results in ALSG. |
| Links |
PubMed Online version:10.1038/ng1507 |
| Keywords |
Animals; Base Sequence; Chromosomes, Human, Pair 5; Fibroblast Growth Factor 10; Fibroblast Growth Factors/genetics; Genes, Dominant; Heterozygote; Humans; Lacrimal Apparatus/abnormalities; Mice; Molecular Sequence Data; Mutation; Pedigree; Salivary Glands/abnormalities |
| edit table |
Significance
Annotations
| Gene product | Qualifier | GO Term | Evidence Code | with/from | Aspect | Extension | Notes | Status |
|---|---|---|---|---|---|---|---|---|
|
acts_upstream_of_or_within |
GO:0007435: salivary gland morphogenesis |
ECO:0000315: mutant phenotype evidence used in manual assertion |
MGI:MGI:1859647 |
P |
|
Seeded From UniProt |
complete | |
|
acts_upstream_of_or_within |
GO:0032808: lacrimal gland development |
ECO:0000315: mutant phenotype evidence used in manual assertion |
MGI:MGI:1859647 |
P |
|
Seeded From UniProt |
complete | |
|
acts_upstream_of_or_within |
GO:0032808: lacrimal gland development |
ECO:0000315: mutant phenotype evidence used in manual assertion |
MGI:MGI:1859647 |
P |
results_in_development_of:(EMAPA:35463) |
Seeded From UniProt |
complete | |
|
acts_upstream_of_or_within |
GO:0007435: salivary gland morphogenesis |
ECO:0000315: mutant phenotype evidence used in manual assertion |
MGI:MGI:1859647 |
P |
has_participant:(EMAPA:18812) |
Seeded From UniProt |
complete | |
See also
References
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