Distinct cis-essential modules direct the time-space pattern of the Pax6 gene activity - Full text - MIT Libraries
B Kammandel, K Chowdhury, A Stoykova, S Aparicio, … - Dev. Biol, 1999 - fbmc.fcen.uba.ar
Distinct cis-Essential Modules Direct the Time– Space Pattern of the Pax6 Gene Activity ...
Key Words: Pax6; regulatory sequence; enhancer; transgenic mouse. ...
Cited by 66 - Web Search - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Activation of the human PAX6 gene through the exon 1 enhancer by transcription factors SEF and Sp1 - Full text - MIT Libraries
JB Zheng, YH Zhou, T Maity, WS Liao, GF Saunders - Nucleic Acids Res, 2001 - nar.oupjournals.org
... vitro and in vivo results show that the E1E-3 region is critical for PAX6 gene
expression. ... of E1E-3 matched the sequence of the zinc finger protein D-Sry-ß in ...
Cited by 4 - Web Search - pubmedcentral.nih.gov - ingentaconnect.com - ncbi.nlm.nih.gov - all 6 versions »

Lens-specific gene recruitment of zeta-crystallin through Pax6, Nrl-Maf, and brain suppressor sites - Full text - MIT Libraries
R Sharon-Friling, J Richardson, S Sperbeck, D Lee, … - Mol Cell Biol, 1998 - mcb.asm.org
... Indeed, transgenic-mouse experiments show that truncated promoters, containing Pax6
and MARE ... is similar to binding sites for HMG or Sox (SRY box) proteins ...
Cited by 22 - Web Search - pubmedcentral.nih.gov - mcb.asm.org - ncbi.nlm.nih.gov - all 5 versions »

Expression of the SRY-related HMG box protein SOX2 in human gastric carcinoma - Full text - MIT Libraries
XL Li, Y Eishi, YQ Bai, H Sakai, Y Akiyama, M Tani … - Int J Oncol, 2004 - 147.52.72.117
... by mutations in and around the SRY-related gene SOX9. Cell 79: 1111- 1120, 1994.
13. Kamachi Y, Uchikawa M, Tanouchi A, Sekido R and Kondoh H: Pax6 and SOX2 ...
Cited by 3 - View as HTML - Web Search - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Sex reversal by loss of the C–terminal transactivation domain of human SOX 9
P Suedbeck, ML Schmitz, PA Baeuerle, G Scherer - Nature Genetics, 1996 - nature.com
... The Sry-related gene Sox9 is expressed during chondrogenesis in mouse embryos. ... PAX6
gene dosage effect in a family with congenital cataracts, aniridia ...
Cited by 87 - Web Search - nature.com - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov - Get it from MIT Libraries

REGULATION TRANSCRIPTIONNELLE DU GENE SRY HUMAIN ET PORCIN PAR LE FACTEUR DE TRANSCRIPTION GATA-4.
F DE MEDECINE - theses.ulaval.ca
... RÉGULATION TRANSCRIPTIONNELLE DU GÈNE SRY HUMAIN ET PORCIN PAR LE FACTEUR DE ... 1.4
SRY : Structure protéique et régulation génique 1.4.1 La protéine SRY ...
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The one-to-four rule and paralogues of sex-determining genes - Full text - MIT Libraries
S Ohno - Cell. Mol. Life Sci, 1999 - springerlink.com
... Eyes formed at various ectopic sites where PAX6 was expressed [2]. Because of my ...
sex [3]. As it turned out, it is the Y-linked SRY transcription regulator gene ...
Cited by 16 - Web Search - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal(BOR) syndrome and …
S Abdelhak, V Kalatzis, R Heilig, S Compain, D … - Nature Genetics, 1997 - nature.com
... F., Pearce, WG, MacDonald, IM & Walter, MA Mutation of the PAX6 gene in ... and campomelic
dysplasia are caused by mutations in and around the SRY-Related Gene SOX9 ...
Cited by 144 - Web Search - nature.com - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov - Get it from MIT Libraries

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
... Kun J, Evans T, Gangadharan U, Greenfield A, Koopman P: The Sry-related gene ... Kamachi
Y, Uchikawa M, Tanouchi A, Sekido R, Kondoh H: Pax6 and •• SOX2 form a ...
Cited by 41 - View as HTML - Web Search - imb.uq.edu.au - ncbi.nlm.nih.gov - all 4 versions » - Get it from MIT Libraries

Position effect in human genetic disease - Full text - MIT Libraries
D Kleinjan, V van Heyningen - Human Molecular Genetics, 1998 - dx.doi.org
... Reference. PAX6, Aniridia, 125 kb, 3[prime], 30. SOX9, Campomelic displasia, 850
kb, 5[prime], 46. ... 71. SRY, Sex reversal, 3 kb, 5[prime]/3[prime], 54,55. ...
Cited by 118 - Web Search - hmg.oupjournals.org - ingentaconnect.com - ncbi.nlm.nih.gov - all 6 versions »

The joys of reverse biology.
P Child, F Chromosomes, M Cloning, TS Genes, H … - Nat Genet, 1993 - ncbi.nlm.nih.gov
... Repetitive Sequences, Nucleic Acid; Sequence Homology*. Gene Symbols: BRCA1;
FMR-1; NF1; PAX6; PMP-22; Pit-1; SRY; Skn-1; WT1. PMID: 8099840 [PubMed - indexed ...
Web Search - Get it from MIT Libraries

Cloning and mapping of platypus SOX 2 and SOX 14: Insights into SOX group B evolution - Full text - MIT Libraries
PJ Kirby, PD Waters, M Delbridge, M Svartman, AN … - Cytogenetic and Genome Research, 2002 - content.karger.com
... It forms complexes with protein partners such as PAX6 and Oct-3, which contain ... Of
these, SOX3 (the ancestor of the Y chromosome-borne SRY) maps separately on ...
Cited by 4 - Web Search - dx.doi.org - karger.com - ncbi.nlm.nih.gov - all 5 versions »

Sox1 directly regulates the gamma-crystallin genes and is essential for lens development in mice - Full text - MIT Libraries
S Nishiguchi, H Wood, H Kondoh, R Lovell-Badge, V … - Genes Dev, 1998 - genesdev.org
... by mutations in an SRY related gene. Nature 372: 525-530[Medline]. Glaser, T., L.
Jepeal, JG Edwards, SR Young, J. Favor, and RL Maas. 1994. PAX6 gene dosage ...
Cited by 100 - Web Search - genesdev.org - pubmedcentral.nih.gov - ncbi.nlm.nih.gov - all 5 versions »

Reorganization of the sex-determining pathway with the evolution of placentation - Full text - MIT Libraries
U Wolf - Human Genetics, 1999 - springerlink.com
... Mol Life Sci 55:857–863 Graves JAM (1998) Interactions between SRY and SOX ... Complete
sequencing of the Fugu WAGR region from WT1 to PAX6: dramatic compaction ...
Cited by 6 - Web Search - ncbi.nlm.nih.gov

Getting your Pax straight: Pax proteins in development and disease
N Chi, JA Epstein - Trends Genet, 2002 - instruct.uwo.ca
... PAX6 X X X CNS, eye, pancreas 11p13 Aniridia, cataracts ... of the high mobility group
(HMG) of transcription factors that includes sex-determining-region-y (Sry). ...
Cited by 54 - View as HTML - Web Search - ncbi.nlm.nih.gov - Get it from MIT Libraries

Involvement of Sox1, 2 and 3 in the early and subsequent molecular events of lens induction - Full text - MIT Libraries
Y Kamachi, M Uchikawa, J Collignon, R Lovell-Badge … - Development, 1998 - dev.biologists.org
... factors having DNA-binding HMG domains similar to that of Sry (Gubbay et al ... 3 expression
is induced in the lateral head ectoderm already expressing Pax6 by the ...
Cited by 92 - Web Search - dev.biologists.org - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Crystal structure of a POU/HMG/DNA ternary complex suggests differential assembly of Oct 4 and Sox 2 … - Full text - MIT Libraries
A Remenyi, K Lins, LJ Nissen, R Reinbold, HR … - Genes & Development, 2003 - genesdev.org
... with another unrelated transcription factor on a late-embryonic-stage-specific enhancer
(Pax6/Sox2 on ... with other HMG domains from HMG-D, Lef-1, and Sry with an ...
Cited by 13 - Web Search - ucsf.edu - embl-hamburg.de - dx.doi.org - all 11 versions »

Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map … - Full text - MIT Libraries
J Wirth, T Wagner, J Meyer, RA Pfeiffer, HU Tietze … - Hum. Genet, 1996 - springerlink.com
... J, Sea- wright A, Hastie N, Heyningen V van (1992) The human PAX6 gene is ... and campomelic
dysplasia are caused by mutations in and around the SRY-related gene ...
Cited by 38 - Web Search - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Role of Wilms tumor 1 (WT1) in the transcriptional regulation of the Mullerian-inhibiting substance … - Full text - MIT Libraries
A Hossain, GF Saunders - Biol Reprod, 2003 - bioone.org
... This mutant behaves similarly in the activation of the SRY promoter [21] . ... As a negative
control, PCR was done using the Pax6-specific primers to show that WT1 ...
Cited by 7 - Web Search - biolreprod.org - biolreprod.org - ncbi.nlm.nih.gov - all 6 versions »

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
... For example, a mutation in the Pax6 gene is responsible for eye defects in the mouse ...
1992), and mutations of the Sry gene cause sex reversal in mouse and human ...
Cited by 9 - Web Search

Tyrosine phosphorylation sites on FRS2 {alpha} responsible for Shp2 recruitment are critical for … - Full text - MIT Libraries
N Gotoh, M Ito, S Yamamoto, I Yoshino, N Song, Y … - Proc Natl Acad Sci US A, 2004 - pnas.org
... In addition, Pax6 remains in the central presumptive retina. ... Interestingly, Bmp4
is required for up-regulation of the Sry family transcription factor Sox2 in ...
Web Search - pubmedcentral.nih.gov - dx.doi.org - ncbi.nlm.nih.gov - all 5 versions »

Sox9, a novel pancreatic marker in Xenopus
YH Lee, JP Saint-Jeannet - Int. J. Dev. Biol, 2003 - ijdb.ehu.es
... and other published studies, as follow: Pdx1 (Wright et al., 1988), Pax6, NeuroD,
Islet1 ... and autosomal sex reversal caused by mutations in an SRY-related gene. ...
Cited by 2 - View as HTML - Web Search - ijdb.ehu.es - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov - Get it from MIT Libraries

Evolving eyes.
RD FERNALD - Int. J. Dev. Biol, 2004 - stanford.edu
... six domain, OTX1-orthodenticle homologue 1, PAX2-paired box gene 2, pax6-paired
domain ... fold homeobox, so-sine oculus homeodomain/six domain, SOX2-SRY-box with ...
View as HTML - Web Search - ncbi.nlm.nih.gov - Get it from MIT Libraries

Screening for mammalian neural genes via fluorescence-activated cell sorter purification of neural …
J Aubert, MP Stavridis, S Tweedie, M O'Reilly, K … - Proceedings of the National Academy of Sciences - pnas.org
... P5D5 1.65 CB968104 Sox11, SRY-box-containing gene 11* ... Genes known to be restricted
to neural progenitors populations such as Ngn2 and Pax6 (23) displayed a ...
Cited by 13 - Web Search - pubmedcentral.nih.gov - dx.doi.org - intl.pnas.org - all 6 versions » - Get it from MIT Libraries

Eyes: Variety, Development and Evolution - Full text - MIT Libraries
F Alert, RG Northcutt, C San Diego, MS Northcutt, … - Brain, Behavior and Evolution, 2004 - content.karger.com
... domain; OTX1, orthodenticle homologue 1; PAX2, paired box gene 2; pax6, paired domain ...
fold homeobox; so, sine oculus homeodomain/six domain; SOX2, SRY, box with ...
Web Search - dx.doi.org - content.karger.com - karger.com

Full Text View - Full text - MIT Libraries
A Hossain, GF Saunders - Biology of Reproduction - bioone.org
... This mutant behaves similarly in the activation of the SRY promoter [21]. ... As a negative
control, PCR was done using the Pax6-specific primers to show that WT1 ...
Web Search - dx.doi.org

GENE INTERACTIONS IN GONADAL DEVELOPMENT - Full text - MIT Libraries
KL Parker, A Schedl, BP Schimmer - Annual Review of Physiology, 1999 - physiol.annualreviews.org
... is identifying the genes that act upstream and downstream of SRY in sex ... several genes,
including WT1 (45, 46, 47) and the transcription factor PAX6 (48), which ...
Cited by 51 - Web Search - physiol.annualreviews.org - d.umn.edu - ncbi.nlm.nih.gov

Transcription factors in dysmorphology - Full text - MIT Libraries
D Lacombe - Clinical Genetics, 1999 - blackwell-synergy.com
... PAX6 mutations have also been described with different eye malformations, such as
Peter's ... and autosomal sex reversal caused by mutations in an SRY-related gene ...
Web Search - ncbi.nlm.nih.gov

The human gene for gammaS-crystallin: alternative transcripts and expressed sequences from the first … - Full text - MIT Libraries
G Wistow, L Sardarian, W Gan, MK Wyatt - Mol Vis, 2000 - molvis.org
... MARE (also at about -200 bp) that acts synergistically with Pax6 for high ... Another
group of transcription factors, the SOX (SRY-box) proteins, are also important ...
Cited by 9 - View as HTML - Web Search - ncbi.nlm.nih.gov

Identifying Genes for Male Sex Determination in Humans - Full text - MIT Libraries
C ANALYSIS - JOURNAL OF EXPERIMENTAL ZOOLOGY, 2001 - doi.wiley.com
... to a gene that encoded a 509-amino acid polypeptide with an SRY homology domain. ...
the contiguous gene syndrome hypothesis with the identification of PAX6 as the ...
Web Search - doi.wiley.com

Status of the Human Malformation Map: 2002
JC CAREY, DH VISKOCHIL - American Journal of Medical Genetics (Semin. Med. Genet.), 2002 - doi.wiley.com
... S19 Aniridia 106210 106210 11p13 PAX6 Paired box homeotic gene-6 ... specific
Campomelic dysplasia 114290 114290 17q24.3-q25.1 SOX9 SRY-box 9 ...
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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 ... Here,
we present expression patterns for the transcription factors PAX6, PAX3 and ...
Web Search - blackwell-synergy.com - journals.cambridge.org - blackwell-synergy.com

Toward understanding the functions of the two highly related Sox 5 and Sox 6 genes - Full text - MIT Libraries
V Lefebvre - Journal of Bone and Mineral Metabolism, 2002 - springerlink.com
... Oct3 in embryonic stem cells and with Pax6 in the devel- oping lens [5,6]. In ... in
vivo have been deter- mined for only a few members so far: Sry, Sox1, Sox4 ...
Cited by 6 - Web Search - ncbi.nlm.nih.gov

Sox2 expression in human stomach adenocarcinomas with gastric and gastric-and-intestinal-mixed … - Full text - MIT Libraries
T Tsukamoto, T Mizoshita, M Mihara, H Tanaka, Y … - Histopathology, 2005 - blackwell-synergy.com
... gene, a member of the transcription factor family containing an Sry-like high ... In
early development, Pax6, Sox2 and Six3 are expressed in head ectoderm, while L ...
Cited by 2 - Web Search - ncbi.nlm.nih.gov

The remarkable ubiquity of DM domain factors as regulators of sexual phenotype: ancestry or aptitude … - Full text - MIT Libraries
J Hodgkin - Development, 2002 - dx.doi.org
... The data so far suggest that DMY plays a role analogous to SRY in mammals ... A similar
argument has existed for some time over the role of the Pax6 gene family in ...
Web Search - genesdev.org - genesdev.org - ncbi.nlm.nih.gov - all 5 versions »

Eyes: Variety, Development and Evolution - Full text - MIT Libraries
RD Fernald - Brain Behavior and Evolution, 2004 - content.karger.com
... domain; OTX1, orthodenticle homologue 1; PAX2, paired box gene 2; pax6, paired domain ...
fold homeobox; so, sine oculus homeodomain/six domain; SOX2, SRY, box with ...
Web Search - stanford.edu - gurdon.cam.ac.uk - ncbi.nlm.nih.gov - all 5 versions »

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

Sex determination and differentiation - Full text - MIT Libraries
DT MacLaughlin, PK Donahoe - N Engl J Med, 2004 - nejm.org
... at the same time or before the urogenital ridge produces the SRY that will ... the proximity
of WT1 on chromosome 11p13 to the paired box homeotic (PAX6) gene and ...
Cited by 15 - View as HTML - Web Search - uni-marburg.de - fiu.edu - ncbi.nlm.nih.gov - all 7 versions »

[CITATION] Sex Determination and Differentiation
G Cells
... at the same time or before the urogenital ridge produces the SRY that will ... the proximity
of WT1 on chromosome 11p13 to the paired box homeotic (PAX6) gene and ...
Web Search - nejm.org - nejm.org - click.nejm.org - all 4 versions »

SOX2 functions to maintain neural progenitor identity - Full text - MIT Libraries
V Graham, J Khudyakov, P Ellis, L Pevny, N Center - Neuron, 2003 - healthsystem.virginia.edu
... conse- regionalized progenitors (PAX6 and PAX7) (Bellefroid et quences ... cycle.
ized progenitors that express PAX6 (Figure 1I) and PAX7 This ...
Cited by 39 - View as HTML - Web Search - bio.unc.edu - ingentaconnect.com - all 6 versions »

Expression of Sox3 throughout the developing central nervous system is dependent on the combined … - Full text - MIT Libraries
S Brunelli, ES Casey, D Bell, R Harland, R Lovell- … - Genesis, 2003 - doi.wiley.com
... domains similar to that of the mammalian testis determining factor SRY (Gubbay et ...
the ventricular zone, marked by the expression of SOX3 itself, PAX6, and BrdU ...
Cited by 4 - Web Search - ncbi.nlm.nih.gov

The human gene for gS-crystallin: Alternative transcripts and expressed sequences from the first …
G Wistow, L Sardarian, W Gan, MK Wyatt - molvis.org
... MARE (also at about -200 bp) that acts synergistically with Pax6 for high ... Another
group of transcription factors, the SOX (SRY-box) proteins, are also important ...
Cached - Web Search

Insertions, substitutions, and the origin of microsatellites - Full text - MIT Libraries
Y ZHU, JE STRASSMANN, DC QUELLER - Genetical Research, 2000 - journals.cambridge.org
... 24 CFTR GGATATATatATTC Yes (4) White et al. (1990) 25 PAX6 TACTgaGATCCA Yes (1)
Jordan et al. (1992) ... (1997) 20 SRY TTgtagGTAGCT Yes (1) Foster et al. (1994) ...
Cited by 9 - Web Search - ruf.rice.edu - dx.doi.org - ncbi.nlm.nih.gov - all 5 versions »

Sequential activation of transcription factors in lens induction - Full text - MIT Libraries
H Ogino, K Yasuda - Development Growth and Differentiation, 2000 - blackwell-synergy.com
... explants induces ectopic Lens1 expression, but Lens1 misexpression does not activate
Pax6. ... The Sox family encodes a group of Sry-related transcription factors ...
Cited by 25 - Web Search - ingentaconnect.com - ncbi.nlm.nih.gov

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, may be responsible for the Waarden ...
22, 23, 24, 28, 29, 30, 31 Altered stoichiometry (haploimbalance)PAX6? 34 ...
Cited by 31 - Web Search - doi.wiley.com - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Turn to the worm
J Ahringer - Curr. Opin. Genet. Dev, 1997 - welc.cam.ac.uk
... ALD (221876) KvLOT7 (U40990) DTD (U14528) //‘JCL (U44772) NF2 (L11353) PAX6 (M77844 ...
SRY (LO8063) DMD (Ml 8533) ATM (U26455) WT7 (X51 630) PKD2 (U50928) CYf27 ...
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

Recent advances in Wilms tumor genetics
JS Dome, MJ Coppes - Curr Opin Pediatr, 2002 - co-pediatrics.com
... in sporadic aniridia A comprehensive mutation screening procedure of PAX6 identifies
80 ... XX animals due to reduction in expression of the Sry male-determining ...
Cited by 26 - Web Search - co-pediatrics.com - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov - Get it from MIT Libraries

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 ... Two
independent and interactive DNA binding subdomains of the PAX6 paired domain ...
Cited by 29 - Web Search - jci.org - pubmedcentral.nih.gov - uphs.upenn.edu - all 7 versions »

Onset of Tlx-3 expression in the chick cerebellar cortex correlates with the morphological … - Full text - MIT Libraries
C LOGAN, C MILLAR, V BHARADIA, K ROULEAU - THE JOURNAL OF COMPARATIVE NEUROLOGY, 2002 - doi.wiley.com
... Notably, Pax6, a member of the paired domain family of transcription factors, is
also ... as the two related zinc finger genes, Zic1 and Zic3, the SRY-related gene ...
Web Search - ncbi.nlm.nih.gov

Ectopic eye development in Drosophila induced by directed dachshund expression - Full text - MIT Libraries
W Shen, G Mardon - Development, 1997 - dev.biologists.org
... The human Pax6 gene is mutated in two patients with Aniridia. Nature Genetics 1,
328-32. ... Male development of chromosomally female mice transgenic for Sry. ...
Cited by 87 - Web Search - dev.biologists.org - wwwlib.bionet.nsc.ru - ncbi.nlm.nih.gov