Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells (Q34106677)

31 July 2017

Mutations in TCF8 cause posterior polymorphous corneal dystrophy and ectopic expression of COL4A3 by corneal endothelial cells (English)

1 reference

posterior polymorphous corneal dystrophy

31 July 2017

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Frank W Rozsa

15

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David A. Mackey

object named as

David A Mackey

6

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Michael Boehnke

20

object named as

Michael Boehnke

1 reference

31 July 2017

Charles M Krafchak

1

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31 July 2017

Hemant Pawar

2

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31 July 2017

Sayoko E Moroi

3

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31 July 2017

Alan Sugar

4

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31 July 2017

Paul R Lichter

5

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31 July 2017

Shahzad Mian

7

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31 July 2017

Theresa Nairus

8

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31 July 2017

Victor Elner

9

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31 July 2017

Miriam T Schteingart

10

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31 July 2017

Catherine A Downs

11

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31 July 2017

Theresa Guckian Kijek

12

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31 July 2017

Jenae M Johnson

13

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31 July 2017

Edward H Trager

14

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31 July 2017

Md Nawajes Ali Mandal

16

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31 July 2017

Michael P Epstein

17

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31 July 2017

Douglas Vollrath

18

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31 July 2017

Radha Ayyagari

19

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31 July 2017

Julia E Richards

21

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31 July 2017

language of work or name

English

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publication date

14 September 2005

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American Journal of Human Genetics

31 July 2017

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31 July 2017

77

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31 July 2017

694-708

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31 July 2017

5

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A locus for posterior polymorphous corneal dystrophy (PPCD3) maps to chromosome 10

31 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

The unified theory of hernia formation

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

WNT7a induces E-cadherin in lung cancer cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Clinicopathologic correlation and genetic analysis in a case of posterior polymorphous corneal dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Cell-specific phosphorylation of Zfhep transcription factor

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

VSX1: a gene for posterior polymorphous dystrophy and keratoconus

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Missense mutations in COL8A2, the gene encoding the alpha2 chain of type VIII collagen, cause two forms of corneal endothelial dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Evidence for a function of CtBP in epithelial gene regulation and anoikis

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

EMBOSS: the European Molecular Biology Open Software Suite

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Localization of the gene for autosomal recessive congenital hereditary endothelial dystrophy (CHED2) to chromosome 20 by homozygosity mapping

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Consed: a graphical tool for sequence finishing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Base-calling of automated sequencer traces using phred. II. Error probabilities

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Alport syndrome. A review of the ocular manifestations

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

DeltaEF1, a zinc finger and homeodomain transcription factor, is required for skeleton patterning in multiple lineages

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Improved splice site detection in Genie

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

PolyPhred: automating the detection and genotyping of single nucleotide substitutions using fluorescence-based resequencing

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Impairment of T cell development in deltaEF1 mutant mice

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Splice site prediction in Arabidopsis thaliana pre-mRNA by combining local and global sequence information

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Linkage of congenital hereditary endothelial dystrophy to chromosome 20.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Expression of E- or P-cadherin is not sufficient to modify the morphology and the tumorigenic behavior of murine spindle carcinoma cells. Possible involvement of plakoglobin

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Identification of mutations in the alpha 3(IV) and alpha 4(IV) collagen genes in autosomal recessive Alport syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Mutations in the type IV collagen alpha 3 (COL4A3) gene in autosomal recessive Alport syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Paired box mutations in familial and sporadic aniridia predicts truncated aniridia proteins

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Increases in type III collagen gene expression and protein synthesis in patients with inguinal hernias

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

DNA binding through distinct domains of zinc-finger-homeodomain protein AREB6 has different effects on gene transcription

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

E1a induces the expression of epithelial characteristics

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

The basement membrane of bovine corneal endothelial cells in culture with beta-aminopropionitrile: biosynthesis of hexagonal lattices composed of a 160 nm dumbbell-shaped structure

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Congenital endothelial corneal dystrophy. Clinical, pathological, and genetic study

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Identification of mutations in the COL4A5 collagen gene in Alport syndrome

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Prediction of human mRNA donor and acceptor sites from the DNA sequence.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Identification of a Zinc Finger Protein that Inhibits IL-2 Gene Expression

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

The role of the basement membrane in differential expression of keratin proteins in epithelial cells

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

The Clinical Spectrum of Posterior Polymorphous Dystrophy

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

HEREDITARY FAMILIAL CONGENITAL HAEMORRHAGIC NEPHRITIS.

5 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Concomitant diseases in primary joint hypermobility syndrome

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Somatic and germline mosaicism in sporadic early-onset Alzheimer's disease.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Characterization of mouse orthologue of ELOVL4: genomic organization and spatial and temporal expression.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Germline and gonosomal mosaicism in the ATR-X syndrome.

28 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1271382

Epithelialization of the corneal endothelium in posterior polymorphous dystrophy

28 October 2018

1 reference

12 December 2020

Immunoelectronmicroscopic localization of extracellular matrix components produced by bovine corneal endothelial cells in vitro

1 reference

12 December 2020

Detection of germline mosaicism in two Duchenne muscular dystrophy families using polymorphic dinucleotide (CA)n repeat loci within the dystrophin gene

1 reference

12 December 2020

Electron microscopy of posterior polymorphous degeneration

1 reference

12 December 2020

Germline mosaicism resulting in the transmission of severe hemophilia B from a grandfather with a mild deficiency

1 reference

12 December 2020

Nonsense mutations and diminished mRNA levels

1 reference

12 December 2020

De novo mutations in sporadic deletional Duchenne muscular dystrophy (DMD) cases

1 reference

12 December 2020

Linkage of posterior polymorphous corneal dystrophy to 20q11

1 reference

12 December 2020

delta Ef1 binds to a far upstream sequence of the mouse pro-alpha 1(I) collagen gene and represses its expression in osteoblasts

1 reference

12 December 2020

Pediatric hernias and hydroceles

1 reference

12 December 2020

Detection of germinal mosaicism in a DMD family

1 reference

12 December 2020

Identifiers

DOI

10.1086/497348

1 reference

31 July 2017

1 reference

31 July 2017

1 reference