Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients (Q24309053)

regulation of transcription by RNA polymerase II

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

V Pingault

4

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Michael Wegner

object named as

M Wegner

7

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author name string

K Kuhlbrodt

1

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C Schmidt

2

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E Sock

3

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N Bondurand

5

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M Goossens

Journal of Biological Chemistry

6

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language of work or name

English

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publication date

4 September 1998

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language of work

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volume

273

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issue

36

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page(s)

23033-8

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Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung disease

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Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model

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SOX10 mutations in patients with Waardenburg-Hirschsprung disease

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Identification of the nuclear localization signal of the POU domain protein Tst-1/Oct6

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Cooperative function of POU proteins and SOX proteins in glial cells

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Definition of a consensus DNA binding site for SRY.

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Nuclear localization of the testis determining gene product SRY.

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

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Defects in cardiac outflow tract formation and pro-B-lymphocyte expansion in mice lacking Sox-4

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Genetic evidence equating SRY and the testis-determining factor

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

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A human XY female with a frame shift mutation in the candidate testis-determining gene SRY.

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

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Sry is a transcriptional activator

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SOX9 binds DNA, activates transcription, and coexpresses with type II collagen during chondrogenesis in the mouse

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Sex reversal by loss of the C-terminal transactivation domain of human SOX9

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Trans-activation and DNA-binding properties of the transcription factor, Sox-18

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High expression of the HMG box factor sox-13 in arterial walls during embryonic development

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Developmental-specific activity of the FGF-4 enhancer requires the synergistic action of Sox2 and Oct-3

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Identification of two Sox17 messenger RNA isoforms, with and without the high mobility group box region, and their differential expression in mouse spermatogenesis

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A gene that is related to SRY and is expressed in the testes encodes a leucine zipper-containing protein

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Functional interaction of beta-catenin with the transcription factor LEF-1

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XTcf-3 transcription factor mediates beta-catenin-induced axis formation in Xenopus embryos

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Architectural transcription factors

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Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations

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Involvement of SOX proteins in lens-specific activation of crystallin genes

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Sox10, a novel transcriptional modulator in glial cells

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