(Q34609365)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10790403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

title

Genomic, transcriptional and mutational analysis of the mouse microphthalmia locus (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10790403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference

J H Hallsson

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10790403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

J Favor

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10790403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

C Hodgkinson

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10790403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

T Glaser

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10790403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

M L Lamoreux

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10790403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

R Magnúsdóttir

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10790403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

G J Gunnarsson

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10790403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

H O Sweet

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10790403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

N G Copeland

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10790403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

N A Jenkins

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10790403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

E Steingrímsson

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10790403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

language of work or name

English

0 references

publication date

1 May 2000

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10790403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

number of pages

10

1 reference

inferred from page(s)

published in

Genetics

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10790403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

volume

155

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10790403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

issue

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10790403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

page(s)

291-300

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10790403%20AND%20SRC:MED&resulttype=core&format=json

Identification of a novel isoform of microphthalmia-associated transcription factor that is enriched in retinal pigment epithelium

6 November 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

Mutation of the MITF gene in albinism-deafness syndrome (Tietz syndrome).

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

Molecular cloning of cDNA encoding a human TFEC isoform, a newly identified transcriptional regulator

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

A rare branch-point mutation is associated with missplicing of fibrillin-2 in a large family with congenital contractural arachnodactyly.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

A natural classification of the basic helix-loop-helix class of transcription factors

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

The semidominant Mi(b) mutation identifies a role for the HLH domain in DNA binding in addition to its role in protein dimerization

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

Mouse USF1 gene cloning: comparative organization within the c-myc gene family.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

The exon sequence TAGG can inhibit splicing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

The recessive phenotype displayed by a dominant negative microphthalmia-associated transcription factor mutant is a result of impaired nucleation potential

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

The mutational spectrum in Waardenburg syndrome.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

Recognition by Max of its cognate DNA through a dimeric b/HLH/Z domain

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

Alternative mRNA forms and open reading frames of the max gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

A helix-loop-helix transcription factor-like gene is located at the mi locus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

Structure and function of the b/HLH/Z domain of USF

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

Identification of casein kinase II phosphorylation sites in Max: effects on DNA-binding kinetics of Max homo- and Myc/Max heterodimers

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

Melanocyte-specific expression of the human tyrosinase promoter: activation by the microphthalmia gene product and role of the initiator.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

Molecular basis of mouse microphthalmia (mi) mutations helps explain their developmental and phenotypic consequences.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

Organization, distribution, and stability of endogenous ecotropic murine leukemia virus DNA sequences in chromosomes of Mus musculus

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

Structure and expression of the human L-myc gene reveal a complex pattern of alternative mRNA processing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

The protein Id: a negative regulator of helix-loop-helix DNA binding proteins

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

A Dominant Negative form of Transcription Activator mTFE3 Created by Differential Splicing

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

An L1 element intronic insertion in the black-eyed white (Mitf[mi-bw]) gene: the loss of a single Mitf isoform responsible for the pigmentary defect and inner ear deafness.

7 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

Mutations at the mouse microphthalmia locus are associated with defects in a gene encoding a novel basic-helix-loop-helix-zipper protein

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.

26 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1461060

Microphthalmia cloudy-eye (mi(ce)): a new murine allele

26 October 2018

1 reference

12 December 2020

MAP kinase links the transcription factor Microphthalmia to c-Kit signalling in melanocytes

1 reference

12 December 2020

Mitfmi-enu122 is a missense mutation in the HLH dimerization domain

1 reference

12 December 2020

A big gene linked to small eyes encodes multiple Mitf isoforms: many promoters make light work

1 reference

12 December 2020

A new allele of microphthalmia induced in the mouse: microphthalmia--defective iris (midi)

1 reference

12 December 2020

microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:10790403%20AND%20SRC:MED&resulttype=core&format=json

6 November 2019

1 reference