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Review and update of mutations causing Waardenburg syndrome.
scientific article published on April 2010
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scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
20127975
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20127975%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
review article
1 reference
stated in
Europe PubMed Central
title
Review and update of mutations causing Waardenburg syndrome
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
20127975
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20127975%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
author
Veronique Pingault
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
20127975
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20127975%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
Nadège Bondurand
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6
1 reference
stated in
Europe PubMed Central
PubMed ID
20127975
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20127975%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
Sandrine Marlin
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5
object named as
Sandrine Marlin
1 reference
stated in
Europe PubMed Central
PubMed ID
20127975
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20127975%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
author name string
Dorothée Ente
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2
1 reference
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Europe PubMed Central
PubMed ID
20127975
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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20127975%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
Florence Dastot-Le Moal
series ordinal
3
1 reference
stated in
Europe PubMed Central
PubMed ID
20127975
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20127975%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
Michel Goossens
series ordinal
4
1 reference
stated in
Europe PubMed Central
PubMed ID
20127975
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20127975%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
publication date
1 April 2010
1 reference
stated in
Europe PubMed Central
PubMed ID
20127975
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20127975%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
published in
Human Mutation
1 reference
stated in
Europe PubMed Central
PubMed ID
20127975
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20127975%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
volume
31
1 reference
stated in
Europe PubMed Central
PubMed ID
20127975
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20127975%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
issue
4
1 reference
stated in
Europe PubMed Central
PubMed ID
20127975
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20127975%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
page(s)
391-406
1 reference
stated in
Europe PubMed Central
PubMed ID
20127975
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20127975%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
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PAX3 gene structure, alternative splicing and evolution
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Interaction of endothelin-3 with endothelin-B receptor is essential for development of epidermal melanocytes and enteric neurons
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MITF and cell proliferation: the role of alternative splice forms
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A novel mutation in the endothelin B receptor gene in a patient with Shah-Waardenburg syndrome and Down syndrome
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Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4
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A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies
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Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome
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Sox10 promotes the survival of cochlear progenitors during the establishment of the organ of Corti
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A splice junction mutation in PAX3 causes Waardenburg syndrome in a South African family
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Analysis of SOX10 mutations identified in Waardenburg-Hirschsprung patients: Differential effects on target gene regulation
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Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism
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Subnuclear localization and mobility are key indicators of PAX3 dysfunction in Waardenburg syndrome
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Waardenburg I syndrome: a clinical and genetic study of two large Brazilian kindreds, and literature review
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Correlation between Waardenburg syndrome phenotype and genotype in a population of individuals with identified PAX3 mutations.
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7 January 2021
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Characteristic defects in neural crest cell-specific Galphaq/Galpha11- and Galpha12/Galpha13-deficient mice
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7 January 2021
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Targeting of endothelin receptor-B to the neural crest
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7 January 2021
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inferred from DOI database lookup
A zebrafish model for Waardenburg syndrome type IV reveals diverse roles for Sox10 in the otic vesicle
1 reference
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Crossref
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7 January 2021
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Mutation of the endothelin-3 gene in the Waardenburg-Hirschsprung disease (Shah-Waardenburg syndrome)
1 reference
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Crossref
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https://api.crossref.org/works/10.1002%2FHUMU.21211
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7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular characterization of a novel human endothelin receptor splice variant
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7 January 2021
based on heuristic
inferred from DOI database lookup
Transcriptional regulation of mitfa accounts for the sox10 requirement in zebrafish melanophore development.
1 reference
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Crossref
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7 January 2021
based on heuristic
inferred from DOI database lookup
splotch (Sp2H), a mutation affecting development of the mouse neural tube, shows a deletion within the paired homeodomain of Pax-3
1 reference
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7 January 2021
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SOX9 and SOX10 but not BRN2 are required for nestin expression in human melanoma cells
1 reference
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7 January 2021
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Reciprocal effect of Waardenburg syndrome mutations on DNA binding by the Pax-3 paired domain and homeodomain
1 reference
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Crossref
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7 January 2021
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Functional characterization of three mutations of the endothelin B receptor gene in patients with Hirschsprung's disease: evidence for selective loss of Gi coupling
1 reference
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7 January 2021
based on heuristic
inferred from DOI database lookup
Pax3 and Regulation of the Melanocyte-specific Tyrosinase-related Protein-1 Promoter
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
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7 January 2021
based on heuristic
inferred from DOI database lookup
Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease
1 reference
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7 January 2021
based on heuristic
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microphthalmia, a critical factor in melanocyte development, defines a discrete transcription factor family
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
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7 January 2021
based on heuristic
inferred from DOI database lookup
Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease
1 reference
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reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
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7 January 2021
based on heuristic
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Genomic analysis of the Microphthalmia locus and identification of the MITF-J/Mitf-J isoform
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
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7 January 2021
based on heuristic
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Auditory and vestibular findings in Waardenburg's type II syndrome.
1 reference
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7 January 2021
based on heuristic
inferred from DOI database lookup
A homozygous mutation in the endothelin-3 gene associated with a combined Waardenburg type 2 and Hirschsprung phenotype (Shah-Waardenburg syndrome)
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
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7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of two PAX3 mutations causing Waardenburg syndrome, one within the paired domain (M62V) and the other downstream of the homeodomain (Q282X)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
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7 January 2021
based on heuristic
inferred from DOI database lookup
A frameshift mutation in the gene for PAX3 in a girl with spina bifida and mild signs of Waardenburg syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
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7 January 2021
based on heuristic
inferred from DOI database lookup
Sox proteins and neural crest development
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
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7 January 2021
based on heuristic
inferred from DOI database lookup
Targeted and natural (piebald-lethal) mutations of endothelin-B receptor gene produce megacolon associated with spotted coat color in mice
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
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7 January 2021
based on heuristic
inferred from DOI database lookup
Interspecies difference in the regulation of melanocyte development by SOX10 and MITF.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
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7 January 2021
based on heuristic
inferred from DOI database lookup
Transcriptional and signaling regulation in neural crest stem cell-derived melanocyte development: do all roads lead to Mitf?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A gene for Waardenburg syndrome type 2 maps close to the human homologue of the microphthalmia gene at chromosome 3p12-p14.1.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
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7 January 2021
based on heuristic
inferred from DOI database lookup
Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations
1 reference
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reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
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7 January 2021
based on heuristic
inferred from DOI database lookup
Congenital hypomyelinating neuropathy, central dysmyelination, and Waardenburg-Hirschsprung disease: phenotypes linked by SOX10 mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
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7 January 2021
based on heuristic
inferred from DOI database lookup
Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
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7 January 2021
based on heuristic
inferred from DOI database lookup
SOX10 mutation in Waardenburg syndrome type II
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
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7 January 2021
based on heuristic
inferred from DOI database lookup
Tietz syndrome: unique phenotype specific to mutations of MITF nuclear localization signal.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
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7 January 2021
based on heuristic
inferred from DOI database lookup
Direct interaction of Sox10 with the promoter of murine Dopachrome Tautomerase (Dct) and synergistic activation of Dct expression with Mitf
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
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7 January 2021
based on heuristic
inferred from DOI database lookup
Early death of neural crest cells is responsible for total enteric aganglionosis in Sox10(Dom)/Sox10(Dom) mouse embryos
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
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7 January 2021
based on heuristic
inferred from DOI database lookup
Waardenburg syndrome with extended aganglionosis: report of 3 new cases
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
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7 January 2021
based on heuristic
inferred from DOI database lookup
Waardenburg syndrome: a variant with neurological involvement.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
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7 January 2021
based on heuristic
inferred from DOI database lookup
Sorting out Sox10 functions in neural crest development
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
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7 January 2021
based on heuristic
inferred from DOI database lookup
SOX10 Maintains Multipotency and Inhibits Neuronal Differentiation of Neural Crest Stem Cells
1 reference
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https://api.crossref.org/works/10.1002%2FHUMU.21211
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7 January 2021
based on heuristic
inferred from DOI database lookup
Historical background and evidence for dominant inheritance of the Klein-Waardenburg syndrome (type III)
1 reference
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7 January 2021
based on heuristic
inferred from DOI database lookup
Novel mutation in PAX3 gene in Waardenburg syndrome accompanied by unilateral macular degeneration
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
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7 January 2021
based on heuristic
inferred from DOI database lookup
Pigmentation PAX-ways: the role of Pax3 in melanogenesis, melanocyte stem cell maintenance, and disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Pax3 functions at a nodal point in melanocyte stem cell differentiation
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel mutation in the MITF gene causes Waardenburg Syndrome Type 2
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Direct regulation of the Microphthalmia promoter by Sox10 links Waardenburg-Shah syndrome (WS4)-associated hypopigmentation and deafness to WS2.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Hearing loss and pigmentary disturbances in Waardenburg syndrome with reference to WS type II.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Waardenburg syndrome type II: phenotypic findings and diagnostic criteria
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Fluorescence in situ hybridization mapping of 25 markers on distal human chromosome 2q surrounding the human Waardenburg syndrome, type I (WS1) locus (PAX3 gene)
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Melanocyte-specific expression of dopachrome tautomerase is dependent on synergistic gene activation by the Sox10 and Mitf transcription factors
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Temporal bone abnormalities associated with hearing loss in Waardenburg syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Association of SOX10 with schizophrenia in the Japanese population
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of Sox8 as a modifier gene in a mouse model of Hirschsprung disease reveals underlying molecular defect
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mouse model of Waardenburg syndrome type IV resulting from an ENU-induced mutation in endothelin 3
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A mouse model of Waardenburg syndrome type 4 with a new spontaneous mutation of the endothelin-B receptor gene.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Regulation of murine TGFbeta2 by Pax3 during early embryonic development.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
EDNRB/EDN3 and Hirschsprung disease type II.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Waardenburg syndrome, Hirschsprung megacolon, and Marcus Gunn ptosis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The value of MLPA in Waardenburg syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel MITF splice site mutation in a family with Waardenburg syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Insight into the microphthalmia gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Three mutations in the paired homeodomain of PAX3 that cause Waardenburg syndrome type 1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A plus-one frameshift mutation in PAX3 alters the entire deduced amino acid sequence of the paired box in a Waardenburg syndrome type 1 (WS1) family
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
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
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expression and transcriptional activity of alternative splice variants of Mitf exon 6
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Endothelin-3 regulates neural crest cell proliferation and differentiation in the hindgut enteric nervous system.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A novel missense mutation in the PAX3 gene in a case of Waardenburg syndrome type I.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical findings in Japanese patients with Waardenburg syndrome type 2.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
One of the endothelin gene family, endothelin 3 gene, is expressed in the placenta
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genome-wide linkage identifies novel modifier loci of aganglionosis in the Sox10Dom model of Hirschsprung disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Temporal bone imaging findings in Waardenburg's syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sox10 haploinsufficiency affects maintenance of progenitor cells in a mouse model of Hirschsprung disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutational analysis of endothelin receptor b1 (rose) during neural crest and pigment pattern development in the zebrafish Danio rerio.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Discordant phenotype of two overlapping deletions involving the PAX3 gene in chromosome 2q35.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
SOX genes and neural progenitor identity
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
SOX10 mutations in patients with Waardenburg-Hirschsprung disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A heterozygous endothelin 3 mutation in Waardenburg-Hirschsprung disease: is there a dosage effect of EDN3/EDNRB gene mutations on neurocristopathy phenotypes?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A missense mutation of the endothelin-B receptor gene in multigenic Hirschsprung's disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identity-by-descent and association mapping of a recessive gene for Hirschsprung disease on human chromosome 13q22
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Waardenburg syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Deletion of the SLUG (SNAI2) gene results in human piebaldism
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
SLUG (SNAI2) deletions in patients with Waardenburg disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel mutation of Endothelin-B receptor gene in Waardenburg-Hirschsprung disease.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Epistatic connections between microphthalmia-associated transcription factor and endothelin signaling in Waardenburg syndrome and other pigmentary disorders
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cytogenetic mapping of a novel locus for type II Waardenburg syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
White forelock, pigmentary disorder of irides, and long segment Hirschsprung disease: Possible variant of Waardenburg syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel mutations of SOX10 suggest a dominant negative role in Waardenburg-Shah syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Autosomal dominant inheritance of Klein-Waardenburg syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The temporal requirement for endothelin receptor-B signalling during neural crest development
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Tietz syndrome (hypopigmentation/deafness) caused by mutation of MITF
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Three novel PAX3 mutations observed in patients with Waardenburg syndrome type 1
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identification of a novel mutation in the paired domain of PAX3 in an Iranian family with waardenburg syndrome type I
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Interactions between Sox10, Edn3 and Ednrb during enteric nervous system and melanocyte development.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Melanocytes and the microphthalmia transcription factor network
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mouse models for four types of Waardenburg syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Cloning of MITF, the human homolog of the mouse microphthalmia gene and assignment to chromosome 3p14.1-p12.3.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The recessive phenotype displayed by a dominant negative microphthalmia-associated transcription factor mutant is a result of impaired nucleation potential
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Ser298 of MITF, a mutation site in Waardenburg syndrome type 2, is a phosphorylation site with functional significance
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel mutations of the endothelin B receptor gene in patients with Hirschsprung's disease and their characterization
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
PAX3 gene structure and mutations: close analogies between Waardenburg syndrome and the Splotch mouse.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The mutational spectrum in Waardenburg syndrome.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Waardenburg syndrome type 2 caused by mutations in the human microphthalmia (MITF) gene.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Waardenburg's syndrome patients have mutations in the human homologue of the Pax-3 paired box gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Mutations in the PAX3 gene causing Waardenburg syndrome type 1 and type 2
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Intestinal aganglionosis associated with the Waardenburg syndrome: report of two cases and review of the literature
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Novel endothelin B receptor transcripts with the potential of generating a new receptor
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Clinical variability of Waardenburg-Shah syndrome in patients with proximal 13q deletion syndrome including the endothelin-B receptor locus
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
ABCD syndrome is caused by a homozygous mutation in the EDNRB gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Shah-Waardenburg syndrome and PCWH associated with SOX10 mutations: a case report and review of the literature
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
The C-terminal subdomain makes an important contribution to the DNA binding activity of the Pax-3 paired domain
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
An alternative splicing event in the Pax-3 paired domain identifies the linker region as a key determinant of paired domain DNA-binding activity.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Pax genes in embryogenesis and oncogenesis
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Epistatic relationship between Waardenburg syndrome genes MITF and PAX3
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Expression of the Sox10 gene during mouse inner ear development.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
From head to toes: the multiple facets of Sox proteins
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Secrets to a healthy Sox life: lessons for melanocytes
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
From stem cells to neurons and glia: a Soxist's view of neural development
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Two different PAX3 gene mutations causing Waardenburg syndrome type I
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
In Situ Hybridization applied to Waardenburg Syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Crystal structure of a paired domain-DNA complex at 2.5 A resolution reveals structural basis for Pax developmental mutations
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Microphthalmia-associated transcription factor as a regulator for melanocyte-specific transcription of the human tyrosinase gene
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Functional difference of the SOX10 mutant proteins responsible for the phenotypic variability in auditory-pigmentary disorders.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
SOX10, in combination with Sp1, regulates the endothelin receptor type B gene in human melanocyte lineage cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Significance of novel endothelin-B receptor gene polymorphisms in Hirschsprung's disease: predominance of a novel variant (561C/T) in patients with co-existing Down's syndrome
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Spatiotemporal regulation of endothelin receptor-B by SOX10 in neural crest-derived enteric neuron precursors.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1002%2FHUMU.21211
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Identifiers
DOI
10.1002/HUMU.21211
1 reference
stated in
Europe PubMed Central
PubMed ID
20127975
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20127975%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
PubMed ID
20127975
1 reference
stated in
Europe PubMed Central
PubMed ID
20127975
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:20127975%20AND%20SRC:MED&resulttype=core&format=json
retrieved
17 January 2020
ResearchGate publication ID
229561683
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