Molecular bases of human kidney malformations - Full text - MIT Libraries
AS Woolf - Pediatric Nephrology, 1997 - springerlink.com
... The specific genes which are regulated by either the SOX9 or PAX2 transcription
factor proteins await dis- covery, but they are likely to include genes for ...
Cited by 2 - Web Search - ncbi.nlm.nih.gov

Requirements for FGF 3 and FGF 10 during inner ear formation - Full text - MIT Libraries
Y Alvarez, MT Alonso, V Vendrell, LC Zelarayan, P … - Development, 2003 - zmnh.uni-hamburg.de
... In the most affected embryos, the tiny vesicles formed also showed a dramatic reduction
or absence of otic marker genes, including Pax2, Dlx5 and Sox9 (Fig. ...
Cited by 15 - View as HTML - Web Search - dev.biologists.org - dev.biologists.org - ncbi.nlm.nih.gov - all 5 versions »

A zebrafish sox9 gene required for cartilage morphogenesis - Full text - MIT Libraries
YL Yan, CT Miller, RM Nissen, A Singer, D Liu, A … - Development, 2002 - dev.biologists.org
... DEVELOPMENT AND DISEASE. A zebrafish sox9 gene required for cartilage morphogenesis. ...
Sox9 may also participate in transcript splicing (Ohe et al., 2002 ). ...
Cited by 25 - Web Search - dev.biologists.org - ncbi.nlm.nih.gov

Zebrafish sox 9 b is an early neural crest marker - Full text - MIT Libraries
M Li, C Zhao, Y Wang, Z Zhao, A Meng - Development Genes and Evolution, 2002 - springerlink.com
... This implies that sox9 may be commonly involved in the formation and differentiation
of ... Lin for the zebrafish cDNA library, Stephen C. Ekker for pax2 cDNA, and ...
Cited by 15 - Web Search - ncbi.nlm.nih.gov

Anatomy of human nephrogenesis
AS WOOLF - adc.bmjjournals.com
... Mutations of the PAX2 gene in a family with optic nerve colobomas, renal anomalies ...
dysplasia are caused by mutations in and around the SRY-related gene SOX9. ...
Web Search - adc.bmjjournals.com

Anatomy of human nephrogenesis
AD Child - archdischild.com
... Mutations of the PAX2 gene in a family with optic nerve colobomas, renal anomalies ...
dysplasia are caused by mutations in and around the SRY-related gene SOX9. ...
Cached - 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
... A panel of 12 control genes (Sry, Sox9, Wnt4, Dhh, Oct4, Gata4, Pax2, Pax8, Dax1,
Amh, 17 -hydroxylase, 3ß-HSD) was also collected for inclusion on the ...
Cited by 38 - Web Search - hmg.oupjournals.org - hmg.oupjournals.org - ncbi.nlm.nih.gov - all 6 versions »

Fgf 3 and Fgf 8 dependent and independent transcription factors are required for otic placode … - Full text - MIT Libraries
D Liu, H Chu, L Maves, YL Yan, PA Morcos, JH … - Development, 2003 - dev.biologists.org
... Heterozygous Sox9 mutant mice show phenotypes similar to individuals with campomelic
dysplasia ... at the following dilutions in PBDTX with 2% NGS: -Pax2, 1:200 ...
Cited by 14 - Web Search - neuro.uoregon.edu - dev.biologists.org - ncbi.nlm.nih.gov

The paired homeobox gene Uncx4. 1 specifies pedicles, transverse processes and proximal ribs of the … - Full text - MIT Libraries
M Leitges, L Neidhardt, B Haenig, BG Herrmann, A … - Development, 2000 - dev.biologists.org
... Key words: Skeleton, Vertebra, Chondrogenesis, Somite, Sox9, Scleraxis, Pax1,
Pax9 SUMMARY ... further supported by the expression of Sox9. ...
Cited by 16 - Web Search - dev.biologists.org - ncbi.nlm.nih.gov

Development of the Mammalian Female Reproductive Tract - Full text - MIT Libraries
Y Yin, L Ma - Journal of Biochemistry, 2005 - jb.oxfordjournals.org
... mesoderm, Lim1, Pax2 and Wnt4 are abnormally expressed, whereas Pax2 expression
is ... A member 1 (Nr5a1, aka Sf1), SRY-box containing protein 9 (Sox9) and Wilms ...
Web Search - jb.oxfordjournals.org

Sex determination and differentiation - Full text - MIT Libraries
DT MacLaughlin, PK Donahoe - N Engl J Med, 2004 - nejm.org
... family member; PAX2 paired box homeotic gene; SF-1 the gene for steroidogenic factor
1; SRY sex-determining region of the Y chromosome; SOX9 SRY homeobox 9; Wnt ...
Cited by 15 - View as HTML - Web Search - uni-marburg.de - fiu.edu - ncbi.nlm.nih.gov - all 7 versions »

Frontiers in Fetal Health
OFT SOCIETIES - sickkids.on.ca
Page 1. Anne L. Pastuszak, BSc, MSc, PhD(c), Editor Volume 2, Number 1/2,
January/February, 2000 What’s Inside International Federation ...
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The malformed kidney: disruption of glomerular and tubular development - Full text - MIT Libraries
TD Piscione, ND Rosenblum - Clinical Genetics, 1999 - blackwell-synergy.com
... 1C). Mutations in SOX9 are found in Campomelic dysplasia (OMIM #114290), a skeletal
malformation syndrome exhibiting, in addition to ... The Pax2 homeodomain gene ...
Cited by 7 - Web Search - ncbi.nlm.nih.gov

GATA TRANSCRIPTION FACTORS IN THE DEVELOPMENT AND TUMORS OF THE ADRENAL CORTEX
S Kiiveri, B Helsinki - ethesis.helsinki.fi
... explained in the text are as follows: MC2R, ACTH receptor; SRY, testis-determining
factor encoded on the Y chromosome; SOX9, SRY- box gene; PAX2, paired-box ...
View as HTML - Web Search - ethesis.helsinki.fi

Mammalian sex determination: a molecular drama - Full text - MIT Libraries
A Swain, R Lovell-Badge - Development, 1999 - genesdev.org
... 1995 ). Both Lim1 and Pax2 are thought to have essential functions during the very
early phases of kidney ... A candidate for this type of downstream gene is Sox9. ...
Cited by 134 - Web Search - mcb.berkeley.edu - mne.uni-karlsruhe.de - npb.ucdavis.edu - all 7 versions »

[CITATION] Sex Determination and Differentiation
G Cells
... family member; PAX2 paired box homeotic gene; SF-1 the gene for steroidogenic factor
1; SRY sex-determining region of the Y chromosome; SOX9 SRY homeobox 9; Wnt ...
Web Search - nejm.org - nejm.org - click.nejm.org - all 4 versions »

Genetic Control of Sexual Differentiation in Humans
VB Chernykh, LF Kurilo - RUSSIAN JOURNAL OF GENETICS, 2001 - springerlink.com
... to produce a network of interdependent regulatory signals [1]. For instance, although
the AMH gene in Sertoli cells is regulated by the SOX9 gene, the ...
Web Search - kluweronline.com - ingentaconnect.com

The genetic and molecular basis of congenital eye defects - Full text - MIT Libraries
J Graw - Nature Reviews Genetics, 2003 - nature.com
... Wehrli, BM, Huang, W., de Crombrugghe, B., Ayala, AG & Czerniak, B. Sox9, a master
regulator of chondrogenesis, distinguishes mesenchymal chondrosarcoma from ...
Cited by 16 - Web Search - nature.com - ncbi.nlm.nih.gov

Normal and abnormal development of the urogenital tract
PM Cuckow, P Nyirady, PJD Winyard - Prenatal Diagnosis, 2001 - doi.wiley.com
... renal syndrome (EYA1) (Abdelhak et al., 1997) Campomelic dysplasia (SOX9) (Bell
et al ... 1997; Ferrante et al., 2001) Renal-coloboma syndrome (PAX2) (Sanyanusin et ...
Cited by 2 - Web Search - doi.wiley.com - ncbi.nlm.nih.gov - Get it from MIT Libraries

F rontiers in Fetal Health
HG Mutations, P Developmental - sickkids.on.ca
... after outgrowth and is associated with downregulation of the ureteric bud
differentiation markers, RET, PAX2 and LIM1 and ... The SOX9 transcription factor gene. ...
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Pax1 and Pax9 synergistically regulate vertebral column development - Full text - MIT Libraries
H Peters, B Wilm, N Sakai, K Imai, R Maas, R … - Development, 1999 - dev.biologists.org
... 5. In the somites, a segmented expression pattern of Sox9 is detectable in ... Functional
redundancy has recently been identified for Pax2 and Pax5, two paralogous ...
Cited by 36 - Web Search - dev.biologists.org - ncbi.nlm.nih.gov

Developmental genetics of the female reproductive tract in mammals - Full text - MIT Libraries
A Kobayashi, RR Behringer - Nature Reviews Genetics, 2003 - nature.com
... Neubuser, A. & Busslinger, M. Nephric lineage specification by Pax2 and Pax8 ... Direct
interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates ...
Cited by 8 - Web Search - nature.com - 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
... campomelic dysplasia are caused by mutations in and around the SRY-Related Gene
SOX9. ... Mutation of the PAX2 gene in a family with optic nerve colobomas, renal ...
Cited by 144 - Web Search - nature.com - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov - Get it from MIT Libraries

Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial … - Full text - MIT Libraries
EB Tagliarini, JG Assumpcao, MR Scolfaro, MP de … - Braz J Med Biol Res, 2005 - scielo.br
... with several zinc finger mutant WT1s (D396N included) with either SOX9 or SF1 ... of
the mature glomerulus function, by repressing or activating PAX2 expression (37 ...
Cited by 1 - Cached - Web Search - scielo.br - ncbi.nlm.nih.gov

Genetic causes of hearing loss
FPM Cremers - Curr. Opin. Neurol, 1999 - co-neurology.com
... cells, where it possibly fits into a morphogenetic cascade containing Pax2, Pax8
and WT‐1 ... to join a growing group of genes, such as PAX6, GLI3, SOX9 and Sonic ...
Cited by 4 - Web Search - co-neurology.com - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov - Get it from MIT Libraries

The battle of the sexes - Full text - MIT Libraries
B Capel - Mech Dev, 2000 - note.cellbio.duke.edu
... myoid cell; Cell migration; Vascular formation; Proliferation; Sox9; Mis; Wt1 ... tubules,
and surrounding mesenchyme, including Wt1, Pax2, and several Wnt genes. ...
Cited by 75 - View as HTML - Web Search - frontiers-in-genetics.org - ingentaconnect.com - ncbi.nlm.nih.gov - all 6 versions »

Renal agenesis in mice homozygous for a gene trap mutation in the gene encoding heparan sulfate 2- … - Full text - MIT Libraries
SL Bullock, JM Fletcher, RS Beddington, VA Wilson - Genes Dev, 1998 - genesdev.org
... apparently normal levels of expression within the ureter of markers such as Sox9
(Fig. ... suggests that it is required downstream of genes such as Wt1, Pax2, c-ret ...
Cited by 144 - Web Search - genesdev.org - med.uio.no - pubmedcentral.nih.gov - all 8 versions »

Establishment and characterization of conditionally immortalized cells from the mouse urogenital … - Full text - MIT Libraries
B Capel, JR Hawkins, E Hirst, D Kioussis, R Lovell … - J Cell Sci, 1996 - jcs.biologists.org
... 1991), Pax2 (Dressler and Douglass, 1991), Hoxd-4 and Hoxd-8 (Izpisua-Belmonte et
al., 1990, 1991), and more recently, Lim1 (Barnes et al., 1994), Sox9 (Wright ...
Cited by 13 - Web Search - jcs.biologists.org - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Groucho corepressor proteins regulate otic vesicle outgrowth - Full text - MIT Libraries
B Bajoghli, N Aghaallaei, T Czerny - Developmental Dynamics, 2005 - doi.wiley.com
... Pax8 a member of Pax2/5/8 family is one of the earliest markers of preotic development,
first detectable at late gastrulation in zebrafish (Pfeffer et al., 1998 ...
Web Search - ncbi.nlm.nih.gov

Mutations in SRY and WT1 genes required for gonadal development are not responsible for XY partial … - Full text - MIT Libraries
JG Assumpcao, MR Scolfaro, MP de Mello, AT Maciel- … - Braz J Med Biol Res, 2005 - scielo.br
... with several zinc finger mutant WT1s (D396N included) with either SOX9 or SF1 ... the
ma- ture glomerulus function, by repressing or activating PAX2 expression (37 ...
View as HTML - Web Search - scielo.br

Invertebrates may not be so different after all
D Zarkower - Novartis Found Symp, 2002 - doi.wiley.com
... Xenopus the onset of Pax2 and Pax8 expression is swapped. Something like this could
happen in the chick, with Sox8 or Sox10 being expressed earlier than Sox9. ...
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Wnt-4 regulation by the Wilms' tumour suppressor gene, WT 1 - Full text - MIT Libraries
EUH Sim, A Smith, E Szilagi, F Rae, P Ioannou, MH … - Oncogene, 2002 - nature.com
... A B C D E F G H Bactin Pax2 Pax 8 p53 p21 GATA 1 GATA 2 Sox9 Sox11 EGR-1 c-myb
c-myc N-myc FosB c fos B jun C jun D jun WT1 RRM WT1 ZF VHL ...
Cited by 11 - Web Search - nature.com - ncbi.nlm.nih.gov

Zebrafish as a model for hearing and deafness - Full text - MIT Libraries
TT Whitfield - Journal of Neurobiology, 2002 - doi.wiley.com
... no isthmus (noi) pax2.1 Lun and Brand, 1998 Riley et al., 1999 ... Pax2 1neu (Favor
et al., 1996); tar- geted disruption (Torres et al., 1996) ...
Cited by 11 - Web Search - ncbi.nlm.nih.gov

Exploring the etiology of haploinsufficiency - Full text - MIT Libraries
RA Veitia - BioEssays, 2002 - doi.wiley.com
... (26) It is also known that SF1 and SOX9 cooperate to ... has beenproposed that the same
phenomenon could underlie HI of other PAX genes like PAX1, PAX2, PAX3, PAX6 ...
Cited by 31 - Web Search - doi.wiley.com - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Molecular Mechanisms of Human Embryogenesis: Developmental Pathogenesis of Renal Tract Malformations - Full text - MIT Libraries
AS Woolf, PJD Winyard - Pediatric and Developmental Pathology, 2002 - springerlink.com
... Page 5. HOXd11 [34,35], LIM1 [36], LMX1B [37], N- MYC [38], PAX2 [39], POD1 [40],
and WT1 [41]. ... PAX2 a,c Small or absent kidneys Torres et al., 1995 [39] ...
Cited by 8 - Web Search - ncbi.nlm.nih.gov

PAX 6 in sensory development - Full text - MIT Libraries
V van Heyningen, KA Williamson - Human Molecular Genetics, 2002 - hmg.oupjournals.org
... of mammalian eye territories by reciprocal transcriptional repression of Pax2 and
Pax6 ... Overbeek, PA (2000) A transgenic insertion upstream of sox9 is associated ...
Cited by 30 - Web Search - hmg.oupjournals.org - ingentaconnect.com - ncbi.nlm.nih.gov - all 6 versions »

MENDELIAN AND NON-MENDELIAN GENETICS
XL INHERITANCE, XL RECESSIVE - bol.ucla.edu
... mut absence of the iris (aniridia) c. COLOBOMA-RENAL SYNDROME – PAX2 2. SONIC ... of
testis) gene that is inhibited by SRY Other autosomal genes – SOX9 on 17q ...
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Minimal phenotype of mice homozygous for a null mutation in the forkhead/winged helix gene, Mf2 - Full text - MIT Libraries
T Kume, K Deng, BL Hogan - Mol. Cell. Biol, 2000 - mcb.asm.org
... 1999. Sox9 is required for cartilage formation. Nat. ... 1990. Pax2, a new murine
paired-box-containing gene and its expression in the developing excretory system. ...
Cited by 15 - Web Search - pubmedcentral.nih.gov - mcb.asm.org - ncbi.nlm.nih.gov

Monoallelic expression of Pax5: a paradigm for the haploinsufficiency of mammalian Pax genes
SL Nutt, M Busslinger - Biol. Chem, 1999 - degruyter.com
... Pax1 nd Undulated Pax2 Renal-coloboma Krd syndrome Pax3 Waardenburg syndrome Splotch
Pax6 Aniridia Small eye Peters’ anomaly Pax8 Hypothyroidism nd ...
Cited by 17 - Web Search - extenza-eps.com - degruyter.de - ncbi.nlm.nih.gov - all 9 versions » - Get it from MIT Libraries

The molecular control of renal branching morphogenesis: current knowledge and emerging insights - Full text - MIT Libraries
TD Piscione, ND Rosenblum, C Boudreau-Lariviere, R … - Differentiation, 2002 - ingentaconnect.com
... Campomelic Dysplasia SOX9 dysplasia, hydronephrosis (Wagner et al., 1994; Houston
et al., 1998) Renal-Coloboma syndrome PAX2 unilateral agenesis, hypoplasia ...
Cited by 15 - Web Search - ingentaconnect.com - 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
... Mutations in SOX9 causes campomelic dysplasia and autosomal XY sex reversal, mutations
in ... However genes such as pax2, sox3 and gbx2 that are commonly used as ...
Web Search - blackwell-synergy.com - journals.cambridge.org - blackwell-synergy.com

Derivation and Comparative Assessment of Retinal Pigment Epithelium from Human Embryonic Stem Cells …
I Klimanskaya, J Hipp, KA Rezai, M West, A Atala, … - Cloning & Stem Cells, 2004 - dx.doi.org
... activators normally required for the eye development, including rx/rax, chx10/
vsx-2/alx, ots-1, otx-2, six3/optx, six6/optx2, mitf, and pax6/pax2 (Baumer et al ...
Cited by 3 - Web Search - liebertonline.com - bu.edu - liebertpub.com - all 10 versions »

A statistical analysis of the TRANSFAC database.
GB Fogel, DG Weekes, G Varga, ER Dow, AM Craven, … - Biosystems, 2005 - natural-selection.com
... 4 binding sites PAX4 04 Pax-4 binding sites PAX6 01 Pax-6 PU1 B Pu.1 (Pu120)
Ets-like transcription factor identified in lymphoid B-cells S8 01 S8 SOX9 B1 SOX ...
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From placode to polarization: new tunes in inner ear development - Full text - MIT Libraries
KF Barald, MW Kelley - Development, 2004 - dev.biologists.org
... More recently, the importance of both Dlx genes and sox9 in otic ... Furthermore, expression
of four different early placodal markers (Pax8, Pax2, Dlx5 and Gbx2 ...
Cited by 4 - Web Search - dev.biologists.org - ncbi.nlm.nih.gov

Emx2 developmental expression in the primordia of the reproductive and excretory systems - Full text - MIT Libraries
F Lucchini, M Fumi, A Forabosco - Anat Embryol, 1997 - springerlink.com
... 1994), Sox9 (Foster et al. ... Proc Natl Acad Sci USA 89:1179–1183 Dressler GR, Deutsch
U, Chowdhury K, Nornes HO, Gruss P (1990) Pax2, a new murine paired-box ...
Cited by 8 - Web Search - ncbi.nlm.nih.gov

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
... In addition, PAX2/ 5/8 binding sites are required for the correct initiation of ...
regulating the expression of genes such as Sox1, Sox2, and Sox9 are scattered ...
Cited by 4 - Web Search - ncbi.nlm.nih.gov

A pair of Sox: distinct and overlapping functions of zebrafish sox 9 co-orthologs in craniofacial … - Full text - MIT Libraries
YL Yan, J Willoughby, D Liu, JG Crump, C Wilson, … - Development, 2005 - dev.biologists.org
... Antibody to Pax2, an otic placode marker (Puschel et al., 1992 ), failed to ... shown),
suggesting that the otic placode does not form in sox9-deficient zebrafish. ...
Web Search - neuro.uoregon.edu - dev.biologists.org - ncbi.nlm.nih.gov

Genetic interactions underlying otic placode induction and formation - Full text - MIT Libraries
KS Solomon, SJ Kwak, A Fritz - Developmental Dynamics, 2004 - doi.wiley.com
... The pax2/5/8 family of tran- scription factors are among the first genes expressed
within the otic pri- mordia (Krauss et al., 1991; Pfeffer et al., 1998), but ...
Web Search - 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 ...
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Multiple Roles of SOX2, an HMG-Box Transcription Factor in Avian Neural Crest Development
Y Wakamatsu, Y Endo, N Osumi, JA Weston - Key words, 2004 - doi.wiley.com
Page 1. ARTICLE Multiple Roles of SOX2, an HMG-Box Transcription Factor in Avian
Neural Crest Development Yoshio Wakamatsu, 1,2 * Yukinori ...
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