Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for human Hirschsprung … - Full text - MIT Libraries
B Herbarth, V Pingault, N Bondurand, K Kuhlbrodt, … - Genetics, 1998 - dx.doi.org
... Dom mouse is caused by mutation of the gene encoding the Sry-related transcription ...
Genet Home page D. Lang and JA Epstein Sox10 and Pax3 physically interact to ...
Cited by 95 - Web Search - pnas.org - pubmedcentral.nih.gov - ncbi.nlm.nih.gov - all 5 versions »

Pax3 is required for enteric ganglia formation and functions with Sox10 to modulate expression of c- … - Full text - MIT Libraries
D Lang, F Chen, R Milewski, J Li, MM Lu, JA … - J. Clin. Invest, 2000 - jci.org
... Mutation of the Sry-related Sox10 gene in Dominant megacolon, a mouse model for
human ... Epistatic relationship between Waardenburg syndrome genes MITF and PAX3. ...
Cited by 29 - Web Search - jci.org - pubmedcentral.nih.gov - uphs.upenn.edu - all 7 versions »

Pax3 and the splotch mutations: structure, function, and relationship to teratogenesis, including …
AF Machado, LJ Martin, MD Collins - Curr. Pharm. Design, 2001 - ingentaconnect.com
... 751 Pax3 and the Splotch Mutations: Structure, Function, and Relationship to ... Page
3. Pax3 and the Splotch Mutations Current Pharmaceutical Design, 2001, Vol. ...
Cited by 7 - Web Search - bentham.org - bentham.org - ncbi.nlm.nih.gov - Get it from MIT Libraries

Getting your Pax straight: Pax proteins in development and disease
N Chi, JA Epstein - Trends Genet, 2002 - instruct.uwo.ca
... Sox10 is a member of the high mobility group (HMG) of transcription factors that
includes sex-determining-region-y (Sry). Pax3 and Sox10 also collaborate to ...
Cited by 54 - View as HTML - Web Search - ncbi.nlm.nih.gov - Get it from MIT Libraries

Hereditary deafness: lessons for developmental studies and genetic diagnosis - Full text - MIT Libraries
AP Read - Eur J Pediatr, 2000 - springerlink.com
... It is noteworthy that three of the ®ve identi®ed genes encode transcription
factors namely PAX3, MITF and SRY box gene 10 (SOX10). ...
Cited by 2 - Web Search - springerlink.com - ncbi.nlm.nih.gov

True hermaphroditism with partial duplication of chromosome 22 and withoutSRY - Full text - MIT Libraries
KA Aleck, L Argueso, J Stone, JG Hackel, RP … - American Journal of Medical Genetics, 1999 - doi.wiley.com
... the PAX3 gene as a DNA control. Absence of these bands indicated the absence of
Y chromosomal material, including a large portion of the testis-determining SRY ...
Cited by 12 - Web Search - doi.wiley.com - ncbi.nlm.nih.gov

Regulation of the Microphthalmia-associated Transcription Factor Gene by the Waardenburg Syndrome … - Full text - MIT Libraries
C Verastegui, K Bille, JP Ortonne, R Ballotti - J Biol Chem, 2000 - jbc.org
... in the gene encoding the transcription factor Pax3, which regulates MITF expression.
Recently, mutations in SOX10, a gene encoding a SRY-related transcription ...
Cited by 33 - Web Search - jbc.org - ncbi.nlm.nih.gov

Transcription factor hierarchy in Waardenburg syndrome: regulation of MITF expression by SOX 10 and … - Full text - MIT Libraries
SB Potterf, M Furumura, KJ Dunn, H Arnheiter, WJ … - Human Genetics, 2000 - springerlink.com
... factors: SOX10 (WSIV OMIM 277580), MITF (WSIIa OMIM 193510), and PAX3 (WSI OMIM
193500 and WSIII OMIM 148820). SOX10 is a member of the SRY (sex-determining ...
Cited by 60 - Web Search - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Computational analysis of composite regulatory elements - Full text - MIT Libraries
P Qiu, W Ding, Y Jiang, JR Greene, L Wang - Mammalian Genome, 2002 - springerlink.com
... 88.4 PAX3 WHN 37.4 ELK1 HSF2 22.4 ATF XBP1 306.2 CREB HNF1 87.4 ETS2 IRF1 36.9 GATA2
MZF1 22.3 BRN2 FREAC7 303.1 FREAC7 GATA 85.5 ATF USF 36.9 NFAT SRY 22.0 ...
Cited by 10 - Web Search - ncbi.nlm.nih.gov

Chromosomal assignment of 20 candidate genes for canine congenital sensorineural deafness by FISH … - Full text - MIT Libraries
SG Rak, C Dr&ouml gem&uuml ller, T Leeb, P Quignon … - Cytogenetic and Genome Research, 2003 - content.karger.com
... 3 [EDN3], endothe- lin receptor type B [EDNRB], microphthalmia-associated tran-
scription factor [MITF], paired box gene 3 [PAX3], SRY [sex determining region Y ...
Cited by 1 - Web Search - dx.doi.org - karger.com - ncbi.nlm.nih.gov - all 5 versions »

Genetics for the paediatric surgeon
AD Lander, AD Lander - Surgery, 2004 - extenza-eps.com
... In type I there is a mutation (PAX3 chromosome 2q). ... This localized the sex-determining
region (SRY gene) to the short arm of the Y chromosome. ...
Web Search - extenza-eps.com - dx.doi.org

A molecular analysis of the Yemenite deaf-blind hypopigmentation syndrome: SOX 10 dysfunction causes … - Full text - MIT Libraries
N Bondurand, K Kuhlbrodt, V Pingault, J Enderich, … - Human Molecular Genetics, 1999 - hmg.oupjournals.org
... Like type I WS, type III WS is caused by PAX3 mutations. ... recently, heterozygous
mutations in the gene coding for the transcription factor SOX10 (for SRY box 10 ...
Cited by 28 - Web Search - biochem.uni-erlangen.de - ingentaconnect.com - ncbi.nlm.nih.gov - all 6 versions »

Accelerated Publication
C Verastegui, K Bille, JP Ortonne, R Ballotti - jbc.org
... gene encoding the transcrip- tion factor Pax3, which regulates MITF expression.
Re- cently, mutations in SOX10, a gene encoding a SRY- related transcription ...
Web Search

Hypaxial Muscle Migration during Primary Myogenesis in Xenopus laevis - Full text - MIT Libraries
B Martin, RM Harland - Developmental Biology, 2001 - ingentaconnect.com
... These pax3-positive cells migrate ventrally, away from the somite, and undergo ... molecule
(NCAM), Xenopus kit related kinase (Xkrk1), and Xenopus SRY box 5 (sox5 ...
Cited by 6 - Web Search - ingentaconnect.com - ncbi.nlm.nih.gov

The genetic basis for skeletal diseases - Full text - MIT Libraries
E Zelzer, BR Olsen - Nature, 2003 - nature.com
... and campomelic dysplasia are caused by mutations in and around the SRY-related gene ...
Mansouri, A., Pla, P., Larue, L. & Gruss, P. Pax3 acts cell autonomously in ...
Cited by 21 - Web Search - nature.com - weizmann.ac.il - ncbi.nlm.nih.gov

Mapping a chromosomal locus for valproic acid-inducedexencephaly in mice - Full text - MIT Libraries
YW Lundberg, RM Cabrera, KA Greer, J Zhao, R Garg, … - Mammalian Genome, 2004 - springerlink.com
... Pax3 gene mutation in the Splotch mice (Epstein et al ... The gender of the N 1 fetuses
was determined by PCR by using a Y-Chr specific gene marker (SRY) (primer Sry ...
Cited by 1 - Web Search - ncbi.nlm.nih.gov

Myelin deficiencies in both the central and the peripheral nervous systems associated with aSOX 10 … - Full text - MIT Libraries
K Inoue, Y Tanabe, JR Lupski - Annals of Neurology, 1999 - doi.wiley.com
... and PAX3 (paired-box), but less is known in the CNS where at least OCT6, Brn-1
(brain) and Brn-2 are involved. 1–3 Recently, SOX10, a member of the SOX (SRY- ...
Cited by 40 - Web Search - doi.wiley.com - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Transcriptional control in myelinating glia: The basic recipe - Full text - MIT Libraries
M Wegner - Glia, 2000 - doi.wiley.com
... Pax3 NC, Pre, Em, ProM Nk-type Gtx POU Tst-1 (Pre, Em), ProM Brn-1 Brn-2 Zink-finger
C2HC MyTI C2H2 rKr1 rKr2 Krox-20 (Em, ProM) Krox-24 Pre HMG-domain Sry-box ...
Cited by 19 - Web Search - doi.wiley.com - biochem.uni-erlangen.de - ncbi.nlm.nih.gov

Matching SOX: partner proteins and co-factors of the SOX family of transcriptional regulators
M Wilson, P Koopman - Curr Opin Genet Dev, 2002 - imb.uq.edu.au
... 44] SOX10 Pax3 N/D c-ret Neural crest [52,53] ... 24 ] SRY Androgen receptor
HMG N/D Sertoli cells / Wolffian duct [26] (not-coexpressed) ...
Cited by 41 - View as HTML - Web Search - imb.uq.edu.au - ncbi.nlm.nih.gov - all 4 versions » - Get it from MIT Libraries

EDNRB/EDN 3 and Hirschsprung Disease Type II - Full text - MIT Libraries
AS Mccallion, A Chakravarti - Pigment Cell Research, 2001 - ingentaconnect.com
... endothelin 3 (pre-protein form of EDN3); ECE1, endothelin converting enzyme 1; EDNRB,
endothelin type-B recep- tor; PAX3, paired box gene 3; SOX10, sry-box 10 ...
Cited by 15 - Web Search - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

C/EBP-Induction by gp130 Signaling
AK Kamaraju, S Adjalley, P Zhang, J Chebath, M … - jbc.org
... to a glial phenotype (9). Development of melanocytic lineage from the neural crest
is controlled to a large extent by transcription factors Pax3, SRY-box Sox10 ...
Web Search

Sox18 mutations in the ragged mouse alleles ragged-like and opossum - Full text - MIT Libraries
K James, B Hosking, J Gardner, GE Muscat, P … - Genesis, 2003 - doi.wiley.com
... Genetic evidence equating SRY and the male sex determining gene. ... Interaction among
SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. ...
Cited by 1 - Web Search - ncbi.nlm.nih.gov

Sox 10 and Pax 3 physically interact to mediate activation of a conserved c-RET enhancer - Full text - MIT Libraries
D Lang, JA Epstein - Human Molecular Genetics, 2003 - hmg.oupjournals.org
... Chen, F., Milewski, R., Li, J., Lu, MM and Epstein, JA (2000) Pax3 is required ... Lemort,
N., Goossens, M. and Wegner, M. (1998) Mutation of the Sry-related Sox10 ...
Cited by 7 - Web Search - uphs.upenn.edu - ingentaconnect.com - ncbi.nlm.nih.gov - all 6 versions »

Interaction among SOX 10, PAX 3 and MITF, three genes altered in Waardenburg syndrome - Full text - MIT Libraries
N Bondurand, V Pingault, DE Goerich, N Lemort, E … - Human Molecular Genetics, 2000 - hmg.oupjournals.org
... 21 Galibert, MD, Yavuzer, U., Dexter, TJ and Goding, CR (1999) Pax3 and regulation
of ... N., Goossens, M. and Wegner, M. (1998) Mutation of the Sry-related Sox10 ...
Cited by 58 - Web Search - hmg.oupjournals.org - ncbi.nlm.nih.gov

Screening for dysmorphological abnormalities--a powerful tool to isolate new mouse mutants - Full text - MIT Libraries
H Fuchs, K Schughart, E Wolf, R Balling, M Hrab& x … - Mammalian Genome, 2000 - springerlink.com
... 1991; Davis and Cowell 1994), while mutations of the Pax3 gene result in neural
tube ... 1992), and mutations of the Sry gene cause sex reversal in mouse and human ...
Cited by 9 - Web Search

Sexually dimorphic expression of protease nexin-1 and vanin-1 in the developing mouse gonad prior to … - Full text - MIT Libraries
S Grimmond, N Van Hateren, P Siggers, R Arkell, R … - Human Molecular Genetics, 2000 - hmg.oxfordjournals.org
... P., Camerino, G. and Lovell-Badge, R. (1998) Dax1 antagonizes Sry action in ... detect
activation of a myogenic transcription program by the PAX3–FKHR fusion ...
Cited by 38 - Web Search - hmg.oupjournals.org - hmg.oupjournals.org - ncbi.nlm.nih.gov - all 6 versions »

MENDELIAN AND NON-MENDELIAN GENETICS
XL INHERITANCE, XL RECESSIVE - bol.ucla.edu
... PAX3 mut = autosomal dominant hearing loss and pigment abnormalities b. PAX6 EYE ...
subsequent to gonadal development The Y chromosome has an SRY (sex determining ...
View as HTML - Web Search

Sox10, un modulateur de la transcription implique dans la maladie de Hirschsprung
I Tableau - medecine/sciences, 1998 - ist.inserm.fr
... avec le domaine HMG (high-mobility group) du facteur de détermination sexuelle SRY
[19]. ... SOX10 est aussi capable de moduler la fonction de PAX3 et de KROX-20 ...
View as HTML - Web Search

Transcription factors in dysmorphology - Full text - MIT Libraries
D Lacombe - Clinical Genetics, 1999 - blackwell-synergy.com
... 3T3 leads to transformation; for instance, a chimaeric gene involving PAX3 was seen
in ... and autosomal sex reversal caused by mutations in an SRY-related gene. ...
Web Search - ncbi.nlm.nih.gov

Sox10, a novel transcriptional modulator in glial cells - Full text - MIT Libraries
K Kuhlbrodt, B Herbarth, E Sock, I Hermans- … - J. Neurosci, 1998 - jneurosci.org
... similarity to the high-mobility group domain of the sex determining factor SRY. ...
Interestingly, Sox10 also modulated the function of Pax3 and Krox-20, two other ...
Cited by 159 - Web Search - jneurosci.org - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Online Mendelian Inheritance in Man(OMIM) as a knowledgebase for human developmental disorders - Full text - MIT Libraries
S Boyadjiev, E Jabs - Clinical Genetics, 2000 - blackwell-synergy.com
... Mutation of the Sry-related Sox10 gene in dominant megacolon, a mouse ... B, Tachibana
M. Epistatic relationship between Waardenburg syndrome genes MITF and PAX3 . ...
Cited by 6 - Web Search - ingentaconnect.com - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Spotlight on Spotted Mice: A Review of White Spotting Mouse Mutants and Associated Human … - Full text - MIT Libraries
LL Baxter, L Hou, SK Loftus, WJ Pavan - Pigment Cell Research, 2004 - ingentaconnect.com
... patterns arising from mutation of the genes MITF, EDNRB, KIT, KITL, EDN3, PAX3,
SOX10, all ... Sox10 (Sry-like HMB box 10) is a member of the high mobility group ...
Cited by 1 - Web Search - ncbi.nlm.nih.gov

Review: Pigment Gene Focus Spotlight on Spotted Mice: A Review of White Spotting Mouse Mutants and … - Full text - MIT Libraries
LL Baxter, L Hou, SK Loftus, WJ Pavan - Pigment Cell Research, 2004 - blackwell-synergy.com
... patterns arising from mutation of the genes MITF, EDNRB, KIT, KITL, EDN3, PAX3,
SOX10, all ... Sox10 (Sry-like HMB box 10) is a member of the high mobility group ...
Web Search

Complementation of melanocyte development in SOX 10 mutant neural crest using lineage-directed gene … - Full text - MIT Libraries
L Hou, SK Loftus, A Incao, A Chen, WJ Pavan - Developmental Dynamics, 2004 - doi.wiley.com
... vectors to facilitate cloning, transgenic mouse lines were generated that express
TVA in SOX10- expressing NC stem cells under the control of the Pax3 promoter ...
Cited by 1 - Web Search - ncbi.nlm.nih.gov

Microphthalmia-Associated Transcription Factor(MITF) is Required but is Not Sufficient to Induce the … - Full text - MIT Libraries
C Gaggioli, R Busca, P Abbe, JP Ortonne, R … - Pigment Cell Research, 2003 - ingentaconnect.com
... 1; MITF, microphthalmia-associated transcription factor; PAX3, a paired homeodomain
transcription factor; SOX10, sex-dertermining(SRY) related transcription ...
Cited by 11 - Web Search - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Sox genes and cancer - Full text - MIT Libraries
C Dong, D Wilhelm, P Koopman, F Alert - Cytogenetic and Genome Research, 2004 - content.karger.com
... Sock E, Le Caignec C, Wegner M, Goossens M: Interaction among SOX10, PAX3 and MITF ...
A: A conserved family of genes related to the testis determining gene, SRY. ...
Cited by 1 - Web Search - dx.doi.org - karger.com - ncbi.nlm.nih.gov - all 5 versions »

Exploring the etiology of haploinsufficiency - Full text - MIT Libraries
RA Veitia - BioEssays, 2002 - doi.wiley.com
... (5) Simple HI of SOX10, an SRY-related factor ... Sex determination in man: WT1 SF1,
SOX9 Melanocyte development: PAX3, SOX10, MITF Myocardial development: TBX5 ...
Cited by 31 - Web Search - doi.wiley.com - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Status of the Human Malformation Map: 2002
JC CAREY, DH VISKOCHIL - American Journal of Medical Genetics (Semin. Med. Genet.), 2002 - doi.wiley.com
... Bruck syndrome 259458 259450 17p12 BRKS Telopeptide lysyl hydroxylase, bone-specific
Campomelic dysplasia 114290 114290 17q24.3-q25.1 SOX9 SRY-box 9 ...
Web Search - ncbi.nlm.nih.gov - Get it from MIT Libraries

Recent advances in the understanding of syndromic forms of hearing loss
TB Friedman, JM Schultz, T Ben-Yosef, SP Pryor, A … - Ear and Hearing, 2003 - ear-hearing.com
... Deafness-Hand syndrome (Asher et al., 1996) (Table 1). PAX3 encodes a ... be caused by
heterozygous mutations in SOX10, encoding the transcription factor SRY-box 10 ...
Cited by 6 - Web Search - ear-hearing.com

Nomenclature for Identified Pigmentation Genes in the Mouse - Full text - MIT Libraries
S JORDAN, F BEERMANN - Pigment Cell Research, 2000 - dx.doi.org
... pa (pallid) Pallidin Pax 3 Splotch Pax 3 Sp (splotch) Pax3 transcription factor ...
Transcriptional activator SRY box-containing Sox 10 Dom gene 10 megacolon ...
Cited by 7 - Web Search - ingentaconnect.com - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Turn to the worm
J Ahringer - Curr. Opin. Genet. Dev, 1997 - welc.cam.ac.uk
... SRY (LO8063) DMD (Ml 8533) ATM (U26455) WT7 (X51 630) PKD2 (U50928) CYf27 (M26856)
WASP (Ul2707) APC (M74088) FRDA (U43747) PAX3 (UO2309) RP3 (X97668) NF7 ...
Cited by 18 - View as HTML - Web Search - gurdon.cam.ac.uk - ingentaconnect.com - ncbi.nlm.nih.gov - all 5 versions » - Get it from MIT Libraries

D ysmorphologie et genes du developpement
SLG References - medecine/sciences, 1996 - ist.inserm.fr
... ce du phénotype murin a permis d’identifier des mutations de PAX3 dans le ... famille
SOX (SOX 9) qui jus- tement est apparenté au gène SRY intervenant dans ...
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Effect of arsenite, maternal age, and embryonic sex on spina bifida, exencephaly, and resorption …
LJ Martin, AF Machado, MA Loza, GE Mao, GS Lee, DN … - Birth Defects Research Part A Clinical and Molecular …, 2003 - doi.wiley.com
... administration of arsenite because the homozygotes pre- sumably have no functional
Pax3. ... SRY primers (Kunieda et al., 1992) were used to identify the presence ...
Cited by 1 - Web Search - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov - Get it from MIT Libraries

Identical mutations and phenotypic variation - Full text - MIT Libraries
U Wolf - Human Genetics, 1997 - springerlink.com
... PAX3 2q35-q37 Deletion of nt 916 Paired box Waardenburg syndromes 3 ... SOX9 17q24.3-
Frameshift after SRY-related Campomelic dysplasia Two unrelated Kwok et al. ...
Cited by 54 - Web Search - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Domains of Brn-2 that mediate homodimerization and interaction with general and melanocytic … - Full text - MIT Libraries
DJ Smit, AG Smith, PG Parsons, GEO Muscat, RA … - European Journal of Biochemistry, 2000 - content.febsjournal.org
... N., Goossens, M. & Wegner, M. (1998) Mutation of the Sry-related Sox10 ... M. (1998)
Epistatic relationship between Waardenburg syndrome genes MITF and PAX3. Nat. ...
Cited by 5 - Cached - Web Search - ejbiochem.org - blackwell-synergy.com - ingentaconnect.com - all 7 versions »

Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth … - Full text - MIT Libraries
N Bondurand, M Girard, V Pingault, N Lemort, O … - Human Molecular Genetics, 2001 - hmg.oupjournals.org
... can be explained by its role as a modulator of expression of various target genes,
in cooperation with different cofactors, such as PAX3, POU3F1 and EGR2 (3 ...
Cited by 23 - Web Search - hmg.oupjournals.org - ingentaconnect.com - ncbi.nlm.nih.gov - all 6 versions »

Original Research Article Microphthalmia-Associated Transcription Factor (MITF) is Required but is … - Full text - MIT Libraries
C Gaggioli, R Busca, P Abbe, JP Ortonne, R … - Pigment Cell Research, 2003 - blackwell-synergy.com
... determining (SRY) related transcription factor has been shown to stimulate DCT promoter
activity (9). Transcription of Tyrp1 seems to be stimulated by PAX3, a ...
Web Search

Original Research Article Direct Interaction of Sox10 with the Promoter of Murine Dopachrome … - Full text - MIT Libraries
Z Jiao, R Mollaaghababa, WJ Pavan, A Antonellis, … - Pigment Cell Research, 2004 - blackwell-synergy.com
... 14), suggests that Dct might be a prime regulatory target of transcription factors
expressed early in melanocyte development, such as Mitf, Pax3, and Sox10 ...
Web Search

Transcriptional regulation of cardiac development: implications for congenital heart disease and … - Full text - MIT Libraries
JA Epstein, CA Buck - Pediatr Res, 2000 - pedresearch.org
... Transcriptional regulators such as NFATc, the Sry-related homeobox gene Sox4, and
the ... 4). In mice, mutations in the paired-box-containing gene Pax3 result in ...
Cited by 19 - Web Search - pedresearch.org - ncbi.nlm.nih.gov

1 Embed in an iodinated polymer: a new paradigm for histology via backscattered electron imaging. By … - Full text - MIT Libraries
D Dyn - J. Anat, 2001 - journals.cambridge.org
... Sox (Sry-related box) genes belong to a transcription factor family, which ... we present
expression patterns for the transcription factors PAX6, PAX3 and OTX2 ...
Web Search - blackwell-synergy.com - journals.cambridge.org - blackwell-synergy.com