患有睑裂狭小-上睑下垂-内眦赘皮综合征的印度家庭中的FOXL2突变 - Suppr

FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome.

作者信息

Nallathambi Jeyabalan, Neethirajan Guruswamy, Usha Kim, Jitendra Jethani, De Baere Elfride, Sundaresan Periasamy

机构信息

Department of Genetics, Dr G.Venkataswamy Eye Research Institute, Aravind Medical Research Foundation, Aravind Eye Hospital, Madurai 625 020, India.

出版信息

J Genet. 2007 Aug;86(2):165-8. doi: 10.1007/s12041-007-0021-z.

DOI:10.1007/s12041-007-0021-z

PMID:17968144

Abstract

摘要

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本文引用的文献

A novel polyalanine expansion in FOXL2: the first evidence for a recessive form of the blepharophimosis syndrome (BPES) associated with ovarian dysfunction.

Hum Genet. 2007 Mar;121(1):107-12. doi: 10.1007/s00439-006-0276-0. Epub 2006 Nov 7.

Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.

Am J Hum Genet. 2005 Aug;77(2):205-18. doi: 10.1086/432083. Epub 2005 Jun 16.

A recurrent polyalanine expansion in the transcription factor FOXL2 induces extensive nuclear and cytoplasmic protein aggregation.

J Med Genet. 2004 Dec;41(12):932-6. doi: 10.1136/jmg.2004.024356.

Genetic analysis of a five generation Indian family with BPES: a novel missense mutation (p.Y215C).

Mol Vis. 2004 Jul 9;10:445-9.

Structure, evolution and expression of the FOXL2 transcription unit.

Cytogenet Genome Res. 2003;101(3-4):206-11. doi: 10.1159/000074338.

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation.

Am J Hum Genet. 2003 Feb;72(2):478-87. doi: 10.1086/346118. Epub 2003 Jan 14.

The putative forkhead transcription factor FOXL2 is mutated in blepharophimosis/ptosis/epicanthus inversus syndrome.

Nat Genet. 2001 Feb;27(2):159-66. doi: 10.1038/84781.

Nonsense-mediated mRNA decay in health and disease.

Hum Mol Genet. 1999;8(10):1893-900. doi: 10.1093/hmg/8.10.1893.

The blepharophimosis, ptosis, and epicanthus inversus syndrome: delineation of two types.

Am J Hum Genet. 1983 Sep;35(5):1020-7.

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FOXL2 mutations in Indian families with blepharophimosis-ptosis-epicanthus inversus syndrome.

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