(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

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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

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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

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