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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2001-2-22
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pubmed:databankReference |
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pubmed:abstractText |
In type I blepharophimosis/ptosis/epicanthus inversus syndrome (BPES), eyelid abnormalities are associated with ovarian failure. Type II BPES shows only the eyelid defects, but both types map to chromosome 3q23. We have positionally cloned a novel, putative winged helix/forkhead transcription factor gene, FOXL2, that is mutated to produce truncated proteins in type I families and larger proteins in type II. Consistent with an involvement in those tissues, FOXL2 is selectively expressed in the mesenchyme of developing mouse eyelids and in adult ovarian follicles; in adult humans, it appears predominantly in the ovary. FOXL2 represents a candidate gene for the polled/intersex syndrome XX sex-reversal goat.
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pubmed:commentsCorrections |
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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 |
Feb
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pubmed:issn |
1061-4036
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pubmed:author |
pubmed-author:AmatiPP,
pubmed-author:BiscegliaLL,
pubmed-author:BonneauDD,
pubmed-author:CauGG,
pubmed-author:ChiappeFF,
pubmed-author:CrisponiLL,
pubmed-author:DeianaMM,
pubmed-author:GaspariniPP,
pubmed-author:Lienhardt-RoussieAA,
pubmed-author:LowSS,
pubmed-author:MarzellaRR,
pubmed-author:NagarajaRR,
pubmed-author:NicolinoMM,
pubmed-author:NivelonAA,
pubmed-author:PiliaGG,
pubmed-author:PorcuSS,
pubmed-author:RistaldiM SMS,
pubmed-author:RocchiMM,
pubmed-author:SchlessingerDD,
pubmed-author:UdaMM,
pubmed-author:VerloesAA,
pubmed-author:ZelanteLL
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pubmed:issnType |
Print
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pubmed:volume |
27
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
159-66
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:11175783-Abnormalities, Multiple,
pubmed-meshheading:11175783-Adult,
pubmed-meshheading:11175783-Amino Acid Sequence,
pubmed-meshheading:11175783-Animals,
pubmed-meshheading:11175783-Base Sequence,
pubmed-meshheading:11175783-Blepharophimosis,
pubmed-meshheading:11175783-Blepharoptosis,
pubmed-meshheading:11175783-Child,
pubmed-meshheading:11175783-Chromosome Segregation,
pubmed-meshheading:11175783-Chromosomes, Human, Pair 3,
pubmed-meshheading:11175783-Codon, Nonsense,
pubmed-meshheading:11175783-DNA-Binding Proteins,
pubmed-meshheading:11175783-Eyelid Diseases,
pubmed-meshheading:11175783-Eyelids,
pubmed-meshheading:11175783-Female,
pubmed-meshheading:11175783-Forkhead Transcription Factors,
pubmed-meshheading:11175783-Gene Duplication,
pubmed-meshheading:11175783-Humans,
pubmed-meshheading:11175783-Male,
pubmed-meshheading:11175783-Mice,
pubmed-meshheading:11175783-Molecular Sequence Data,
pubmed-meshheading:11175783-Mutation,
pubmed-meshheading:11175783-Nose Diseases,
pubmed-meshheading:11175783-Ovary,
pubmed-meshheading:11175783-Pedigree,
pubmed-meshheading:11175783-Proton-Translocating ATPases,
pubmed-meshheading:11175783-Sequence Homology, Amino Acid,
pubmed-meshheading:11175783-Syndrome,
pubmed-meshheading:11175783-Transcription Factors
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pubmed:year |
2001
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pubmed:articleTitle |
The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.
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pubmed:affiliation |
Istituto di Ricerca sulle Talassemie ed Anemie Mediterranee CNR, and Dipartimento di Scienze Biomediche e Biotecnologie, Ospedale Regionale per le Microcitemie, Università degli Studi di Cagliari, Cagliari, Italy.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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