(Q47948567)

English

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

scientific article published in August 1999

In more languages

default for all languages

No label defined

No description defined

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10400990

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 (English)

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10400990

1 reference

based on heuristic

inferred from title

author name string

Yajima I

1

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10400990

Sato S

2

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10400990

Kimura T

3

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10400990

Yasumoto K

4

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10400990

Shibahara S

5

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10400990

Goding CR

6

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10400990

Yamamoto H

7

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10400990

publication date

1 August 1999

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10400990

Human Molecular Genetics

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10400990

8

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10400990

8

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10400990

1431-1441

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10400990

Waardenburg syndrome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

Functional analysis of microphthalmia-associated transcription factor in pigment cell-specific transcription of the human tyrosinase family genes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

Targeting the microphthalmia basic helix-loop-helix-leucine zipper transcription factor to a subset of E-box elements in vitro and in vivo

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

The mutational spectrum in Waardenburg syndrome.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

Insight into the microphthalmia gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

Gene control of mammalian pigmentary differentiation. I. Clonal origin of melanocytes

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

Dysgenesis of melanocytes and cochlear dysfunction in mutant microphthalmia (mi) mice

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

An actively retrotransposing, novel subfamily of mouse L1 elements

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

Dysfunction of the Orleans reeler gene arising from exon skipping due to transposition of a full-length copy of an active L1 sequence into the skipped exon

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

Glycine receptor beta-subunit gene mutation in spastic mouse associated with LINE-1 element insertion.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

Mutation at the anophthalmic white locus in Syrian hamsters: haploinsufficiency in the Mitf gene mimics human Waardenburg syndrome type 2.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

Aberrant pre-mRNA maturation is caused by LINE insertions into introns of the white gene of Drosophila melanogaster

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

Identification of a melanocyte-type promoter of the microphthalmia-associated transcription factor gene

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

Epistatic relationship between Waardenburg syndrome genes MITF and PAX3

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

Mutations in microphthalmia, the mouse homolog of the human deafness gene MITF, affect neuroepithelial and neural crest-derived melanocytes differently.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

Lineage-specific signaling in melanocytes. C-kit stimulation recruits p300/CBP to microphthalmia

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

The impact of L1 retrotransposons on the human genome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

Haemophilia A resulting from de novo insertion of L1 sequences represents a novel mechanism for mutation in man.

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

Insertional mutation by transposable element, L1, in the DMD gene results in X-linked dilated cardiomyopathy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

Insertion of a 5' truncated L1 element into the 3' end of exon 44 of the dystrophin gene resulted in skipping of the exon during splicing in a case of Duchenne muscular dystrophy

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

Rapid amplification of a retrotransposon subfamily is evolving the mouse genome

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

Ascidian tyrosinase gene: its unique structure and expression in the developing brain

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

The retinal pigmented epithelium is required for development and maintenance of the mouse neural retina

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F8.8.1431

21 January 2018

Identifiers

10.1093/HMG/8.8.1431

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10400990

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

7 February 2018

http://europepmc.org/abstract/MED/10400990

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q47948567&oldid=2176651406"