(Q24322489)

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Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I)

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scholarly article

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Mutations in the paired domain of the human PAX3 gene cause Klein-Waardenburg syndrome (WS-III) as well as Waardenburg syndrome type I (WS-I) (English)

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1 reference

GOA release 2020-03-11

animal organ morphogenesis

1 reference

GOA release 2020-03-11

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author name string

C F Hoth

1

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A Milunsky

2

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N Lipsky

3

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R Sheffer

4

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S K Clarren

5

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C T Baldwin

6

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language of work or name

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publication date

March 1993

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American Journal of Human Genetics

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52

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3

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455-62

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A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

19 March 2017

Conservation of the paired domain in metazoans and its structure in three isolated human genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

19 March 2017

Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

19 March 2017

DNA sequencing with chain-terminating inhibitors

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

19 March 2017

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

19 March 2017

Analysis of the accuracy and implications of simple methods for predicting the secondary structure of globular proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

19 March 2017

Autosomal dominant inheritance of Klein-Waardenburg syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

19 March 2017

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

19 March 2017

Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

19 March 2017

Waardenburg syndrome associated with meningomyelocele

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

19 March 2017

A frameshift mutation in the HuP2 paired domain of the probable human homolog of murine Pax-3 is responsible for Waardenburg syndrome type 1 in an Indonesian family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

19 March 2017

The human PAX6 gene is mutated in two patients with aniridia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

19 March 2017

splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

19 March 2017

Mouse small eye results from mutations in a paired-like homeobox-containing gene

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

7 April 2017

DNA binding by proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

27 September 2017

Illegitimate transcription: transcription of any gene in any cell type

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

27 September 2017

Assignment of the locus for Waardenburg syndrome type I to human chromosome 2q37 and possible homology to the Splotch mouse

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

27 September 2017

Mouse and hamster mutants as models for Waardenburg syndromes in humans

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

27 September 2017

Pax-3, a novel murine DNA binding protein expressed during early neurogenesis.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

27 September 2017

The molecular basis of the undulated/Pax-1 mutation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

27 September 2017

Waardenburg I syndrome: a clinical and genetic study of two large Brazilian kindreds, and literature review

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

27 September 2017

Direct detection of dystrophin gene rearrangements by analysis of dystrophin mRNA in peripheral blood lymphocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

27 September 2017

Heterozygous mutation in the G+5 position of intron 33 of the pro-alpha 2(I) gene (COL1A2) that causes aberrant RNA splicing and lethal osteogenesis imperfecta. Use of carbodiimide methods that decrease the extent of DNA sequencing necessary to defi

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

27 September 2017

Heterogeneity in Waardenburg syndrome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

27 September 2017

Structure of two genes at the gooseberry locus related to the paired gene and their spatial expression during Drosophila embryogenesis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

30 May 2018

Conservation of a large protein domain in the segmentation gene paired and in functionally related genes of Drosophila.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

30 May 2018

Waardenburg syndrome type I in a child with de novo inversion (2)(q35q37.3).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

30 May 2018

Molecular characterization of a deletion encompassing the splotch mutation on mouse chromosome 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

30 May 2018

The murine paired box gene, Pax7, is expressed specifically during the development of the nervous and muscular system.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

30 May 2018

Low basal transcription of genes for tissue-specific collagens by fibroblasts and lymphoblastoid cells. Application to the characterization of a glycine 997 to serine substitution in alpha 1(II) collagen chains of a patient with spondyloepiphyseal d

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

30 May 2018

Pax: a murine multigene family of paired box-containing genes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

30 May 2018

Normal hearing in Splotch (Sp/+), the mouse homologue of Waardenburg syndrome type 1.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1682157

30 May 2018

Upper limb involvement in the Klein-Waardenburg syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

21 January 2018

The mutational spectrum in Waardenburg syndrome.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

21 January 2018

Waardenburg syndrome

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

21 January 2018

Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

21 January 2018

PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

21 January 2018

Epistatic relationship between Waardenburg syndrome genes MITF and PAX3

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

21 January 2018

Pax3 modulates expression of the c-Met receptor during limb muscle development

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

21 January 2018

Ectopic Pax-3 activates MyoD and Myf-5 expression in embryonic mesoderm and neural tissue

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

21 January 2018

Redefining the genetic hierarchies controlling skeletal myogenesis: Pax-3 and Myf-5 act upstream of MyoD.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

21 January 2018

undulated, a mutation affecting the development of the mouse skeleton, has a point mutation in the paired box of Pax 1

1 reference

https://pubmed.ncbi.nlm.nih.gov/8447316

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III)

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Possible homozygous Waardenburg syndrome in a fetus with exencephaly

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Congenital clasped thumb combined with Waardenburg syndrome in three generations of one family: an undescribed congenital anomalies complex

1 reference

https://api.crossref.org/works/10.1034%2FJ.1399-0004.2001.600408.X

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1034/J.1399-0004.2001.600408.X

1 reference

Consolidated OpenCitations Corpus – April 2017

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OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

reason for deprecated rank

incorrect identifier value

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