Whole exome sequence analysis of Peters anomaly (Q35395210)

8 August 2017

title

Whole exome sequence analysis of Peters anomaly (English)

1 reference

8 August 2017

Elena V Semina

1 reference

8 August 2017

Alex V Levin

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8 August 2017

Eric Weh

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8 August 2017

Linda M Reis

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8 August 2017

Hannah C Happ

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8 August 2017

Patricia G Wheeler

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8 August 2017

Karen L David

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8 August 2017

Erin Carney

1 reference

8 August 2017

Brad Angle

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8 August 2017

Natalie Hauser

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8 August 2017

publication date

3 September 2014

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8 August 2017

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8 August 2017

volume

133

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8 August 2017

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8 August 2017

page(s)

1497-1511

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Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia

8 August 2017

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A novel Norrie disease pseudoglioma gene mutation, c.-1_2delAAT, responsible for Norrie disease in a Chinese family

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Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes

27 July 2018

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Ion transport function of SLC4A11 in corneal endothelium

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Exome sequencing identifies mutations in the gene TTC7A in French-Canadian cases with hereditary multiple intestinal atresia

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27 July 2018

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27 July 2018

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A novel nonsense mutation in the NDP gene in a Chinese family with Norrie disease.

27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators

27 July 2018

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Post-translational modification of thrombospondin type-1 repeats in ADAMTS-like 1/punctin-1 by C-mannosylation of tryptophan

27 July 2018

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Signaling "cross-talk" is integrated by transcription factors in the development of the anterior segment in the eye.

27 July 2018

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Heparan sulfate deficiency leads to Peters anomaly in mice by disturbing neural crest TGF-beta2 signaling

27 July 2018

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FGF-regulated BMP signaling is required for eyelid closure and to specify conjunctival epithelial cell fate

27 July 2018

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27 July 2018

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27 July 2018

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O-fucosylation is required for ADAMTS13 secretion

27 July 2018

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27 July 2018

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Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy

27 July 2018

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Foxe3 is required for morphogenesis and differentiation of the anterior segment of the eye and is sensitive to Pax6 gene dosage

27 July 2018

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Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome

27 July 2018

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Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4395516

Mutations in sodium-borate cotransporter SLC4A11 cause recessive congenital hereditary endothelial dystrophy (CHED2).

27 July 2018

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Filamin A: phenotypic diversity

27 July 2018

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FOXC1 transcriptional regulatory activity is impaired by PBX1 in a filamin A-mediated manner

27 July 2018

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Functions of heparan sulfate proteoglycans in cell signaling during development

27 July 2018

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Cited2 controls left-right patterning and heart development through a Nodal-Pitx2c pathway

27 July 2018

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Activator protein 2alpha associates with adenomatous polyposis coli/beta-catenin and Inhibits beta-catenin/T-cell factor transcriptional activity in colorectal cancer cells

27 July 2018

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Transcription Factors Pax6 and AP-2alpha Interact To Coordinate Corneal Epithelial Repair by Controlling Expression of Matrix Metalloproteinase Gelatinase B

27 July 2018

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

27 July 2018

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Missense mutations in the DNA-binding region and termination codon in PAX6.

27 July 2018

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The Peters' plus syndrome: a review

27 July 2018

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Identification of differentially expressed genes in mouse Pax6 heterozygous lenses.

27 July 2018

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Foxe3 haploinsufficiency in mice: a model for Peters' anomaly

27 July 2018

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Histopathological examination of two cases of anterior staphyloma associated with Peters' anomaly and persistent hyperplastic primary vitreous

27 July 2018

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27 July 2018

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27 July 2018

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Ocular and systemic features of Peters' anomaly.

27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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27 July 2018

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Transcription factor AP-2 essential for cranial closure and craniofacial development

27 July 2018

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Mutations at the PAX6 locus are found in heterogeneous anterior segment malformations including Peters' anomaly

27 July 2018

1 reference

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Probably Norrie's disease due to mutation. Two sporadic sibships of two males each, a necropsy of one case, and, given Norrie's disease, a calculation of the gene mutation frequency

27 July 2018

1 reference

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Syndecans as modulators and potential pharmacological targets in cancer progression

27 July 2018

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Signals from the lens and Foxc1 regulate the expression of key genes during the onset of corneal endothelial development.

26 September 2018

1 reference

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Pitx3 directly regulates Foxe3 during early lens development

26 September 2018

1 reference

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Mice with a targeted disruption of Slc4a11 model the progressive corneal changes of congenital hereditary endothelial dystrophy.

26 September 2018

1 reference

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dbNSFP v2.0: a database of human non-synonymous SNVs and their functional predictions and annotations

26 September 2018

1 reference

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X-linked CHARGE-like Abruzzo-Erickson syndrome and classic cleft palate with ankyloglossia result from TBX22 splicing mutations.

26 September 2018

1 reference

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Mitochondrial cytochrome c synthase: CP motifs are not necessary for heme attachment to apocytochrome c.

26 September 2018

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A biochemical framework for SLC4A11, the plasma membrane protein defective in corneal dystrophies

26 September 2018

1 reference

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Overview of the mutation spectrum in familial exudative vitreoretinopathy and Norrie disease with identification of 21 novel variants in FZD4, LRP5, and NDP.

26 September 2018

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Mutational analysis of two boys with the severe perinatally lethal Melnick-Needles syndrome.

26 September 2018

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SLC4A11 mutations in Fuchs endothelial corneal dystrophy.

26 September 2018

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26 September 2018

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Novel mutations in Norrie disease gene in Japanese patients with Norrie disease and familial exudative vitreoretinopathy

26 September 2018

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Zebrafish foxe3: roles in ocular lens morphogenesis through interaction with pitx3.

26 September 2018

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26 September 2018

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Cardiac malformations and midline skeletal defects in mice lacking filamin A.

26 September 2018

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Further support of the role of CYP1B1 in patients with Peters anomaly.

26 September 2018

1 reference

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Genotype-phenotype variations in five Spanish families with Norrie disease or X-linked FEVR.

26 September 2018

1 reference

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Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals

26 September 2018

1 reference

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Additional clinical and molecular analyses ofTFAP2Ain patients with the branchio-oculo-facial syndrome

26 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-014-1481-X

Segmentation and tracking of cytoskeletal filaments using open active contours

21 January 2018

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Crossref

https://api.crossref.org/works/10.1007%2FS00439-014-1481-X

Norrie disease: Extraocular clinical manifestations in 56 patients

21 January 2018

1 reference

Crossref

https://api.crossref.org/works/10.1007%2FS00439-014-1481-X

Bifid tongue, corneal clouding, and Dandy-Walker malformation in a male infant with otopalatodigital syndrome type 2

21 January 2018

1 reference

12 December 2020

Norrie's disease. A congenital progressive oculo-acoustico-cerebral degeneration

1 reference

12 December 2020

Pax6 heterozygous eyes show defects in chamber angle differentiation that are associated with a wide spectrum of other anterior eye segment abnormalities

1 reference

12 December 2020

Mutation analysis of B3GALTL in Peters Plus syndrome

1 reference

12 December 2020

A complexTFAP2Aallele is associated with branchio-oculo-facial syndrome and inner ear malformation in a deaf child

1 reference

12 December 2020

10.1007/S00439-014-1481-X

Identifiers

DOI

1 reference

release_m3qifl4g2jg5boaemzxcbdjsju

8 August 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/m3qifl4g2jg5boaemzxcbdjsju

24 November 2022

mapped directly with Wikidata item

PMC publication ID

4395516

1 reference

8 August 2017

1 reference