Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome (Q39478251)

12 September 2017

Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome (English)

1 reference

12 September 2017

Asma Chaoui

1

1 reference

12 September 2017

Yuli Watanabe

2

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12 September 2017

Renaud Touraine

3

1 reference

12 September 2017

Viviane Baral

4

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12 September 2017

Michel Goossens

5

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12 September 2017

Veronique Pingault

6

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12 September 2017

Nadege Bondurand

7

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12 September 2017

language of work or name

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19 September 2011

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12 September 2017

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12 September 2017

32

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12 September 2017

1436-1449

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12 September 2017

12

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Hirschsprung disease, associated syndromes and genetics: a review

12 September 2017

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

A SOX9 defect of calmodulin-dependent nuclear import in campomelic dysplasia/autosomal sex reversal

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Aplasia of cochlear nerves and olfactory bulbs in association with SOX10 mutation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Human SRY inhibits beta-catenin-mediated transcription

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

A molecular analysis of the yemenite deaf-blind hypopigmentation syndrome: SOX10 dysfunction causes different neurocristopathies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Pondering the promyelocytic leukemia protein (PML) puzzle: possible functions for PML nuclear bodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

The transcription factor Sox10 is a key regulator of peripheral glial development.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

21 January 2018

Orphan nuclear bodies

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Homeodomain revisited: a lesson from disease-causing mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Krox20 controls the transcription of its various targets in the developing hindbrain according to multiple modes.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

A novel macromolecular structure is a target of the promyelocyte-retinoic acid receptor oncoprotein

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Differential contributions of rare and common, coding and noncoding Ret mutations to multifactorial Hirschsprung disease liability

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Repression of SOX6 transcriptional activity by SUMO modification

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Factor required for mammalian spliceosome assembly is localized to discrete regions in the nucleus

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Having it both ways: Sox protein function between conservation and innovation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Defective importin beta recognition and nuclear import of the sex-determining factor SRY are associated with XY sex-reversing mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Paraspeckle protein p54nrb links Sox9-mediated transcription with RNA processing during chondrogenesis in mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Sox proteins and neural crest development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Direct interaction of Sox10 with the promoter of murine Dopachrome Tautomerase (Dct) and synergistic activation of Dct expression with Mitf

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Pairing SOX off: with partners in the regulation of embryonic development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Sorting out Sox10 functions in neural crest development

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

SOX-partner code for cell specification: Regulatory target selection and underlying molecular mechanisms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c-ret

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Control of cell fate and differentiation by Sry-related high-mobility-group box (Sox) transcription factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

SRY-directed DNA bending and human sex reversal: reassessment of a clinical mutation uncovers a global coupling between the HMG box and its tail

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Melanocyte-specific expression of dopachrome tautomerase is dependent on synergistic gene activation by the Sox10 and Mitf transcription factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Shuttling of SOX proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Nuclear bodies: multifaceted subdomains of the interchromatin space.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Nuclear bodies: random aggregates of sticky proteins or crucibles of macromolecular assembly?

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Genomic variation in multigenic traits: Hirschsprung disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Campomelic acampomelic dysplasia presenting with increased nuchal translucency in the first trimester

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

The importance of having your SOX on: role of SOX10 in the development of neural crest-derived melanocytes and glia

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Structural basis for SRY-dependent 46-X,Y sex reversal: modulation of DNA bending by a naturally occurring point mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

A direct role of SRY and SOX proteins in pre-mRNA splicing

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

The structure of Sox17 bound to DNA reveals a conserved bending topology but selective protein interaction platforms

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Protein zero gene expression is regulated by the glial transcription factor Sox10

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

The glial transcription factor Sox10 binds to DNA both as monomer and dimer with different functional consequences

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

SOX10 mutations in patients with Waardenburg-Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Review and update of mutations causing Waardenburg syndrome.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX10 and PAX3

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Nuclear localization of the testis determining gene product SRY.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Synergistic transcription activation by Maf and Sox and their subnuclear localization are disrupted by a mutation in Maf that causes cataract

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Sox10 is an active nucleocytoplasmic shuttle protein, and shuttling is crucial for Sox10-mediated transactivation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Crystal structure of a POU/HMG/DNA ternary complex suggests differential assembly of Oct4 and Sox2 on two enhancers

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

PIASy, a nuclear matrix-associated SUMO E3 ligase, represses LEF1 activity by sequestration into nuclear bodies

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Involvement of SOX10 in the pathogenesis of Hirschsprung disease: report of a truncating mutation in an isolated patient

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Expression of connexin47 in oligodendrocytes is regulated by the Sox10 transcription factor

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Boys, girls and shuttling of SRY and SOX9.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Heterozygous SOX9 mutations allowing for residual DNA-binding and transcriptional activation lead to the acampomelic variant of campomelic dysplasia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Terminal differentiation of myelin-forming oligodendrocytes depends on the transcription factor Sox10

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Two independent nuclear localization signals are present in the DNA-binding high-mobility group domains of SRY and SOX9.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Regulation of human SRY subcellular distribution by its acetylation/deacetylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Molecular basis of human 46X,Y sex reversal revealed from the three-dimensional solution structure of the human SRY-DNA complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

The high-mobility-group domain of Sox proteins interacts with DNA-binding domains of many transcription factors

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Polyalanine expansion mutations in the X-linked hypopituitarism gene SOX3 result in aggresome formation and impaired transactivation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Functional difference of the SOX10 mutant proteins responsible for the phenotypic variability in auditory-pigmentary disorders.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

SOX10, in combination with Sp1, regulates the endothelin receptor type B gene in human melanocyte lineage cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Spatiotemporal regulation of endothelin receptor-B by SOX10 in neural crest-derived enteric neuron precursors.

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

Segregation at three loci explains familial and population risk in Hirschsprung disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

inferred from DOI database lookup

7 January 2021

based on heuristic

The tyrosinase enhancer is activated by Sox10 and Mitf in mouse melanocytes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21583

inferred from DOI database lookup

7 January 2021

based on heuristic

Identifiers

DOI

10.1002/HUMU.21583

1 reference

release_gb2i24fzpbfavey2rs6dofs57a

12 September 2017

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/gb2i24fzpbfavey2rs6dofs57a

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference