Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly (Q22004175)

6 July 2017

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

1 reference

6 July 2017

0 references

1 reference

GOA release 2020-03-11

eye development

1 reference

GOA release 2020-03-11

Forkhead box C1

1 reference

GOA release 2020-03-11

8

B Koop

B

Koop

1 reference

6 July 2017

Mears AJ

1

A J

Mears

1 reference

6 July 2017

Jordan T

2

T

Jordan

1 reference

6 July 2017

Mirzayans F

3

F

Mirzayans

1 reference

6 July 2017

Dubois S

4

S

Dubois

1 reference

6 July 2017

Kume T

5

T

Kume

1 reference

6 July 2017

Parlee M

6

M

Parlee

1 reference

6 July 2017

Ritch R

7

R

Ritch

1 reference

6 July 2017

Kuo WL

9

W L

Kuo

1 reference

6 July 2017

Collins C

10

C

Collins

1 reference

6 July 2017

Marshall J

11

J

Marshall

1 reference

6 July 2017

Gould DB

12

D B

Gould

1 reference

6 July 2017

Pearce W

13

W

Pearce

1 reference

6 July 2017

Carlsson P

14

P

Carlsson

1 reference

6 July 2017

Enerbäck S

15

S

Enerbäck

1 reference

6 July 2017

Morissette J

16

J

Morissette

1 reference

6 July 2017

Bhattacharya S

17

S

Bhattacharya

1 reference

6 July 2017

Hogan B

18

B

Hogan

1 reference

6 July 2017

Raymond V

19

V

Raymond

1 reference

6 July 2017

Walter MA

20

M A

Walter

1 reference

6 July 2017

language of work or name

English

0 references

publication date

1 November 1998

1 reference

American Journal of Human Genetics

6 July 2017

1 reference

6 July 2017

63

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6 July 2017

5

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6 July 2017

1316-1328

1 reference

Familial glaucoma iridogoniodysplasia maps to a 6p25 region implicated in primary congenital glaucoma and iridogoniodysgenesis anomaly

6 July 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

Autosomal dominant Axenfeld-Rieger anomaly maps to 6p25

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (Buphthalmos) in families linked to the GLC3A locus on chromosome 2p21

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

Autosomal dominant iridogoniodysgenesis anomaly maps to 6p25

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12)

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

A second locus for Rieger syndrome maps to chromosome 13q14

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

DNA-binding properties and secondary structural model of the hepatocyte nuclear factor 3/fork head domain

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

The retroviral oncogene qin belongs to the transcription factor family that includes the homeotic gene fork head

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

New member of the winged-helix protein family disrupted in mouse and rat nude mutations

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

Analysis of hepatocyte nuclear factor-3 beta protein domains required for transcriptional activation and nuclear targeting

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

Cloning and stable maintenance of 300-kilobase-pair fragments of human DNA in Escherichia coli using an F-factor-based vector

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

Co-crystal structure of the HNF-3/fork head DNA-recognition motif resembles histone H5

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

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

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

Construction and characterization of a human bacterial artificial chromosome library

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

PAX6 mutations in aniridia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

Identification of nine tissue-specific transcription factors of the hepatocyte nuclear factor 3/forkhead DNA-binding-domain family

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

Cloning and characterization of the t(X;11) breakpoint from a leukemic cell line identify a new member of the forkhead gene family

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

Genomic structure, evolutionary conservation and aniridia mutations in the human PAX6 gene

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

The human PAX6 gene is mutated in two patients with aniridia

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

The winged-helix transcription factor HNF-3 beta is required for notochord development in the mouse embryo

19 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

HNF-3 beta is essential for node and notochord formation in mouse development

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

Identification of the human chromosomal region containing the iridogoniodysgenesis anomaly locus by genomic-mismatch scanning

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

Identification of a gene that causes primary open angle glaucoma.

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

Five years on the wings of fork head

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

Number of people with glaucoma worldwide

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

HNF-3 beta as a regulator of floor plate development

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

Fusion of a fork head domain gene to PAX3 in the solid tumour alveolar rhabdomyosarcoma

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

Familial hypoplasia of the iris stroma associated with glaucoma

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

The homeotic gene fork head encodes a nuclear protein and is expressed in the terminal regions of the Drosophila embryo

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

Partial deletion of chromosome 6p: autopsy findings in a premature infant and review of the literature

12 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

Ring chromosome 6: variability in phenotypic expression

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

Control of gut development by fork head and cell signaling molecules in Drosophila.

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

Fusion of PAX3 to a member of the forkhead family of transcription factors in human alveolar rhabdomyosarcoma.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

Molecular genetics of the glaucomas: mapping of the first five "GLC" loci.

30 May 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

Sonic hedgehog is an endodermal signal inducing Bmp-4 and Hox genes during induction and regionalization of the chick hindgut.

29 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1377542

Dominant goniodysgenesis with late congenital glaucoma. A re-examination of Berg's pedigree

29 November 2018

1 reference

12 December 2020

Autosomal dominant iridogoniodysgenesis: genetic features

1 reference

12 December 2020

Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity

1 reference

12 December 2020

Fine mapping of the gene for autosomal dominant juvenile-onset glaucoma with iridogoniodysgenesis in 6p25-tel

1 reference

12 December 2020

Aniridia, congenital glaucoma, and hydrocephalus in a male infant with ring chromosome 6

1 reference

12 December 2020

Neural crest origin of trabecular meshwork cells and other structures of the anterior chamber

1 reference

12 December 2020

Distal deletion of the short arm of chromosome 6

1 reference

12 December 2020

ERBLICHES JUGENDLICHES GLAUKOM

1 reference

Crossref

https://api.crossref.org/works/10.1086%2F302109

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1086/302109

1 reference

6 July 2017

1 reference

6 July 2017

1 reference