Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity. (Q51857876)

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10 February 2020

title

Digenic inheritance of mutations in FOXC1 and PITX2 : correlating transcription factor function and Axenfeld-Rieger disease severity (English)

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10 February 2020

8

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2

Lily Islam

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10 February 2020

7

Ken K Nischal

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10 February 2020

1

Daniel Kelberman

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10 February 2020

author name string

Susan E Holder

3

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10 February 2020

Thomas S Jacques

4

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Patrick Calvas

5

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Raoul C Hennekam

6

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10 February 2020

publication date

8 September 2011

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10 February 2020

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10 February 2020

volume

32

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issue

10

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10 February 2020

page(s)

1144-1152

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A method and server for predicting damaging missense mutations

10 February 2020

cites work

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Multifunctional role of the Pitx2 homeodomain protein C-terminal tail

21 January 2018

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Reduced human and murine corneal thickness in an Axenfeld-Rieger syndrome subtype.

21 January 2018

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Functional interactions between FOXC1 and PITX2 underlie the sensitivity to FOXC1 gene dose in Axenfeld-Rieger syndrome and anterior segment dysgenesis

21 January 2018

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FOXC1 is required for cell viability and resistance to oxidative stress in the eye through the transcriptional regulation of FOXO1A

21 January 2018

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Differential regulation of gene expression by PITX2 isoforms

21 January 2018

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Expanding the spectrum of FOXC1 and PITX2 mutations and copy number changes in patients with anterior segment malformations.

21 January 2018

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Analysis of mutations of the PITX2 transcription factor found in patients with Axenfeld-Rieger syndrome.

21 January 2018

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Inherited PAX6, NF1 and OTX2 mutations in a child with microphthalmia and aniridia.

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PITX2 regulates procollagen lysyl hydroxylase (PLOD) gene expression: implications for the pathology of Rieger syndrome

21 January 2018

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A family with Axenfeld-Rieger syndrome and Peters Anomaly caused by a point mutation (Phe112Ser) in the FOXC1 gene

21 January 2018

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A novel homeobox mutation in the PITX2 gene in a family with Axenfeld-Rieger syndrome associated with brain, ocular, and dental phenotypes.

21 January 2018

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A review of anterior segment dysgeneses.

21 January 2018

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Variation in residual PITX2 activity underlies the phenotypic spectrum of anterior segment developmental disorders.

21 January 2018

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Fox's in development and disease

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The I.M.A.G.E. Consortium: an integrated molecular analysis of genomes and their expression

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Common genetic variants near the Brittle Cornea Syndrome locus ZNF469 influence the blinding disease risk factor central corneal thickness

21 January 2018

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Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

21 January 2018

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Nonsense-mediated mRNA decay in mammals

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Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly

21 January 2018

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Multiple hits during early embryonic development: digenic diseases and holoprosencephaly

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A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the anterior chamber of the eye

21 January 2018

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The forkhead transcription factor gene FKHL7 is responsible for glaucoma phenotypes which map to 6p25

21 January 2018

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Analyses of the effects that disease-causing missense mutations have on the structure and function of the winged-helix protein FOXC1

21 January 2018

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Structural and functional analyses of disease-causing missense mutations in the forkhead domain of FOXC1

21 January 2018

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Essential structural and functional determinants within the forkhead domain of FOXC1

21 January 2018

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Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome

21 January 2018

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Molecular and developmental mechanisms of anterior segment dysgenesis.

21 January 2018

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Genotype-phenotype correlations in Axenfeld-Rieger malformation and glaucoma patients with FOXC1 and PITX2 mutations.

21 January 2018

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Axenfeld-Rieger syndrome and spectrum of PITX2 and FOXC1 mutations

21 January 2018

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Anterior chamber cleavage syndrome. A stepladder classification.

21 January 2018

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A small deletion of 16q23.1-->16q24.2 [del(16)(q23.1q24.2).ish del(16)(q23.1q24.2)(D16S395+, D16S348-, P5432+)] in a boy with iris coloboma and minor anomalies.

21 January 2018

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Mutations in the lysyl hydroxylase 1 gene that result in enzyme deficiency and the clinical phenotype of Ehlers-Danlos syndrome type VI.

21 January 2018

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Cytogenetically invisible microdeletions involving PITX2 in Rieger syndrome

21 January 2018

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A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI

21 January 2018

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inferred from DOI database lookup

7 January 2021

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Identifiers

DOI

10.1002/HUMU.21550

1 reference

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10 February 2020

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