FOXL2 inactivation by a translocation 171 kb away: analysis of 500 kb of chromosome 3 for candidate long-range regulatory sequences (Q28256126)

7

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Manuela Uda

2

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Laura Crisponi

1

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Antonio Cao

8

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Manila Deiana

3

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Giuseppe Pilia

9

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author name string

Angela Loi

4

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Ramaiah Nagaraja

5

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Francesca Chiappe

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

6

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language of work or name

English

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publication date

May 2004

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published in

Genomics

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volume

83

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issue

5

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page(s)

757-64

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cites work

1 reference

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Spectrum of FOXL2 gene mutations in blepharophimosis-ptosis-epicanthus inversus (BPES) families demonstrates a genotype--phenotype correlation

7 January 2021

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

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Mutations in FOXL2 underlying BPES (types 1 and 2) in Colombian families

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Closing in on the BPES gene on 3q23: mapping of a de Novo reciprocal translocation t(3;4)(q23;p15.2) breakpoint within a 45-kb cosmid and mapping of three candidate genes, RBP1, RBP2, and beta'-COP, distal to the breakpoint

7 January 2021

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Refinement of a translocation breakpoint associated with blepharophimosis-ptosis-epicanthus inversus syndrome to a 280-kb interval at chromosome 3q23.

7 January 2021

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Molecular Cytogenetic Evaluation in a Patient with a Translocation (3;21) Associated with Blepharophimosis, Ptosis, Epicanthus Inversus Syndrome (BPES)

7 January 2021

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Blepharophimosis sequence and diaphragmatic hernia associated with interstitial deletion of chromosome 3 (46,XY,del(3)(q21q23)).

7 January 2021

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Fine mapping suggests that the goat Polled Intersex Syndrome and the human Blepharophimosis Ptosis Epicanthus Syndrome map to a 100-kb homologous region.

7 January 2021

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A 11.7-kb deletion triggers intersexuality and polledness in goats

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Evolution and expression of FOXL2

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Genomic strategies to identify mammalian regulatory sequences

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MatInd and MatInspector: new fast and versatile tools for detection of consensus matches in nucleotide sequence data

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Cloning and characterization of seven human forkhead proteins: binding site specificity and DNA bending

7 January 2021

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The small subunit of the mammalian mitochondrial ribosome. Identification of the full complement of ribosomal proteins present

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Isolation of DAP3, a novel mediator of interferon-gamma-induced cell death

7 January 2021

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Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES.

7 January 2021

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Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the hereditary lymphedema-distichiasis syndrome

7 January 2021

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Aniridia-associated translocations, DNase hypersensitivity, sequence comparison and transgenic analysis redefine the functional domain of PAX6.

7 January 2021

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Controlling the double helix

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Multiple genetic loci within 11p15 defined by Beckwith-Wiedemann syndrome rearrangement breakpoints and subchromosomal transferable fragments

7 January 2021

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Beckwith-Wiedemann syndrome demonstrates a role for epigenetic control of normal development

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A bipartite sequence element associated with matrix/scaffold attachment regions

7 January 2021

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Detection of polymorphisms of human DNA by gel electrophoresis as single-strand conformation polymorphisms

7 January 2021

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Active conservation of noncoding sequences revealed by three-way species comparisons

7 January 2021

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Multiple sequence alignment with the Clustal series of programs

7 January 2021

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