(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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0 references

Frank W Rozsa

15

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David A. Mackey

object named as

David A Mackey

6

0 references

Michael Boehnke

20

object named as

Michael Boehnke

1 reference

31 July 2017

Charles M Krafchak

1

1 reference

31 July 2017

Hemant Pawar

2

1 reference

31 July 2017

Sayoko E Moroi

3

1 reference

31 July 2017

Alan Sugar

4

1 reference

31 July 2017

Paul R Lichter

5

1 reference

31 July 2017

Shahzad Mian

7

1 reference

31 July 2017

Theresa Nairus

8

1 reference

31 July 2017

Victor Elner

9

1 reference

31 July 2017

Miriam T Schteingart

10

1 reference

31 July 2017

Catherine A Downs

11

1 reference

31 July 2017

Theresa Guckian Kijek

12

1 reference

31 July 2017

Jenae M Johnson

13

1 reference

31 July 2017

Edward H Trager

14

1 reference

31 July 2017

Md Nawajes Ali Mandal

16

1 reference

31 July 2017

Michael P Epstein

17

1 reference

31 July 2017

Douglas Vollrath

18

1 reference

31 July 2017

Radha Ayyagari

19

1 reference

31 July 2017

Julia E Richards

21

1 reference

31 July 2017

language of work or name

English

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publication date

14 September 2005

1 reference

American Journal of Human Genetics

31 July 2017

1 reference

31 July 2017

77

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31 July 2017

5

1 reference

31 July 2017

694-708

1 reference

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