(Q39478251)

12 September 2017

title

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

1 reference

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

volume

32

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12 September 2017

issue

12

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12 September 2017

page(s)

1436-1449

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Hirschsprung disease, associated syndromes and genetics: a review

12 September 2017

cites work

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

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

21 January 2018

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Human SRY inhibits beta-catenin-mediated transcription

21 January 2018

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

21 January 2018

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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

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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

Fatcat ID

1 reference

Fatcat

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

mapped directly with Wikidata item

24 November 2022

based on heuristic

1 reference