Neurofibromin Deficiency in Mice Causes Exencephaly and Is a Modifier for Splotch Neural Tube … - Full text - MIT Libraries
M Lakkis, JA Golden, KS O’Shea, JA Epstein - Developmental Biology, 1999 - uphs.upenn.edu
... tube defects in Splotch. © 1999 Academic Press Key Words: exencephaly;
spina bifida; Nf1; Pax3; dorsal root ganglia. INTRODUCTION ...
Cited by 13 - Web Search - ingentaconnect.com - ncbi.nlm.nih.gov - all 5 versions »

[CITATION] Pax3 recognizes a sequence within the 3'UTR of the murine neurofibromatosis gene Nf1
JA Epstein, J Cai, RM Maas - Circulation, 1994
Cited by 1 - Web Search - Get it from MIT Libraries

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

Pax3 is required for cardiac neural crest migration in the mouse: evidence from the splotch (Sp2H) … - Full text - MIT Libraries
SJ Conway, DJ Henderson, AJ Copp - Development, 1997 - dev.biologists.org
... In this paper we demonstrate, using RT-PCR and in situ hybridi- sation, that Pax3
expression can serve as a marker of cardiac neural crest cells in the mouse ...
Cited by 83 - Web Search - dev.biologists.org - wwwlib.bionet.nsc.ru - ncbi.nlm.nih.gov

NF1 tumor suppressor gene function: narrowing the GAP - Full text - MIT Libraries
K Cichowski, T Jacks - Cell, 2001 - microarray1.princeton.edu
... Press Review NF1 Tumor Suppressor Gene Function: Narrowing the GAP disease ... 1998).
NF1 is a dominantly inherited genetic disease. Be- Karen ...
Cited by 63 - View as HTML - Web Search - ncbi.nlm.nih.gov

Gene expression profiling of cultured human NF1 heterozygous (NF1) melanocytes reveals … - Full text - MIT Libraries
J Boucneau, S De Schepper, M Vuylsteke, P Van … - Pigment Cell Research, 2005 - blackwell-synergy.com
... involved in normal melanocyte development, such as PAX3 (Galibert et ... neurocutaneous
autosomal dominant disease, Neurofibromatosis type 1 (NF1) is characterized ...
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Nf 1 has an essential role in endothelial cells - Full text - MIT Libraries
AD Gitler, Y Zhu, FA Ismat, MM Lu, Y Yamauchi, LF … - Nature Genetics, 2003 - nature.com
... Ablation of NF1 function in neurons induces abnormal development of cerebral cortex
and reactive gliosis in ... PubMed | ChemPort |; Epstein, J. Pax3, neural crest ...
Cited by 21 - Web Search - nature.com - ncbi.nlm.nih.gov

Cre-constructing the heart - Full text - MIT Libraries
P Ruiz-Lozano, KR Chien - Nature Genetics, 2003 - nature.com
... Pax3 Neural crest Nf1 None (current issue) Rxra None Wnt-1 Neural crest Catnb
Craniofacial defects Outflow tract defects Nf1 None (current issue) Rxra None ...
Cited by 3 - Web Search - nature.com - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Molecular genetics and cytogenetics of sarcomas
RP Kruzelock, MF Hansen - Hematol Oncol Clin North Am, 1995 - ncbi.nlm.nih.gov
... Syndrome. Gene Symbols: ERG; FKHR; FL1; NF1; PAX3; RB1; c-myc; mdm2; p53. Grant
Support: CA-53318/CA/NCI. PMID: 7649940 [PubMed - indexed for MEDLINE]
Cited by 8 - Web Search - Get it from MIT Libraries

Neural Crest Migration and Mouse Models of Congenital Heart Disease
AD GITLER, CB BROWN, L KOCHILAS, J LI, JA EPSTEIN - Cold Spring Harbor Symposia on Quantitative Biology, 2002 - dx.doi.org
... NF1 tumor suppressor gene function: Narrowing the GAP. Cell 104: 593. Conway S.,
Henderson D., and Copp A. 1997. Pax3 is required for cardiac neural crest ...
Cited by 2 - Web Search - cshl-symposium.org - cshl-symposium.org - ncbi.nlm.nih.gov - all 5 versions » - Get it from MIT Libraries

From insect eye to vertebrate muscle: redeployment of a regulatory network - Full text - MIT Libraries
F Relaix, M Buckingham - Development, 1999 - dx.doi.org
... which is expressed in fast muscle fibers, in which particular NF1 isoforms are ... Pax3
(and Pax7) (for review, see Tajbakhsh and Buckingham 1999 ) is expressed in ...
Cited by 44 - Web Search - genesdev.org - genesdev.org - ncbi.nlm.nih.gov - all 5 versions »

Molecular diagnosis and gene therapy in musculoskeletal tumors - Full text - MIT Libraries
A Uchida, M Seto, N Hashimoto, N Araki - J Orthop Sci, 2000 - springerlink.com
... rhabdomyosarcoma Rb Osteosarcoma, MFH, liposarcoma, mesenchymoma NF1 Neurofibromatosis,
melanoma ... Clear cell sarcoma SYT-SSX Synovial sarcoma PAX3-FKHR Alveolar ...
Cited by 3 - Web Search - ncbi.nlm.nih.gov

Isolation and chromosomal assignment of canine genomic BAC clones representing 25 cancer-related … - Full text - MIT Libraries
R Thomas, W Bridge, K Benke, M Breen, F Alert - Cytogenetic and Genome Research, 2003 - content.karger.com
... FES, FOS, NF1, MDM2, RAF1, RB1, ERBB2), or with existing DNA or mRNA sequence for
the canine gene where those data are available (MYB, SAS, PAX3, KIT, BRCA1 ...
Cited by 1 - Web Search - dx.doi.org - karger.com - ncbi.nlm.nih.gov - all 5 versions »

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
... CEBP CHOP 559.1 CREB PAX3 125.3 GATA1 PBX1 46.3 AP2 MYCMAX 24.8 ATF WHN 546.3 CEBPA
HLF 124.0 MZF1 NFKAPPAB 46.0 CREL MZF1 24.7 NF1 NFY 490.5 Oct-1 TCF11 123.3 ...
Cited by 10 - Web Search - ncbi.nlm.nih.gov

Rescue of neural tube defects in Pax-3-deficient embryos by p 53 loss of function: implications for … - Full text - MIT Libraries
L Pani, M Horal, MR Loeken - Genes & Development, 2002 - genesdev.org
... 125; gender was determined by using primers to the Zfy and Nf1 genes (Sah et al ...
Rearrangement of the PAX3 paired box gene in the paediatric solid tumor alveolar ...
Cited by 26 - Web Search - pubmedcentral.nih.gov - dx.doi.org - ncbi.nlm.nih.gov - all 5 versions »

Neurofibromin modulation of ras activity is required for normal endocardial-mesenchymal … - Full text - MIT Libraries
MM Lakkis, JA Epstein - Development, 1998 - dev.biologists.org
... Von Recklinghausen or Type I neurofibromatosis is caused by mutations in the NF1
gene that encodes neurofibromin and NF1 is considered a tumor suppresser gene. ...
Cited by 55 - Web Search - uphs.upenn.edu - dev.biologists.org - ncbi.nlm.nih.gov

Mouse Mutants and Cardiac Development - Full text - MIT Libraries
NMII Cardiogenesis - Circulation Research, 1996 - circresaha.org
... which signal transduction pathways are regulated by NF1 in the neural crest lineage
and how such pathways intersect with nuclear factors like Pax3 and the Hox ...
Web Search - circres.ahajournals.org - circresaha.org - circres.ahajournals.org

Transcriptional regulation of cardiac development: implications for congenital heart disease and … - Full text - MIT Libraries
JA Epstein, CA Buck - Pediatr Res, 2000 - pedresearch.org
... 2000 Cardiovascular malformations and other cardiac abnormalities in neurofibromatosis
1 (NF1). ... Abstract/Free Full Text]; Epstein JA 1996 Pax3, neural crest and ...
Cited by 19 - Web Search - pedresearch.org - ncbi.nlm.nih.gov

Development Gone Awry - Full text - MIT Libraries
CH Disease - Circulation Research, 2004 - circresaha.org
... 34 Nf1 cardiac defects are due to a primary role for neurofibromin in
endocardial cells, and Pax3 functions in neural crest. Hence ...
Cached - Web Search - circres.ahajournals.org - ahavj.ahajournals.org - uphs.upenn.edu - all 8 versions »

ORIGINAL ARTICLE Fiber-type specific and position-dependent expression of a transgene in limb … - Full text - MIT Libraries
F Spitz, L Benbacer, JC Sabourin, M Salminen, F … - Differentiation, 2002 - blackwell-synergy.com
... of fast glycolytic fibers exist, in which the requirement of the NF1 activity for ...
Shen, C. (1999) Msx1 antagonizes the myogenic activity of Pax3 in migrating ...
Cited by 1 - Web Search - ncbi.nlm.nih.gov

Cytogenetics and the biologic basis of sarcomas
SX Skapek, CH Chui - Current Opinion in Oncology, 2000 - co-oncology.com
... S, et al.: Analysis of chromosomal imbalances in sporadic and NF1-associated peripheral ...
Fredericks WJ, Galili N, Mukhopadhyay S, et al.: The Pax3-FKHR fusion ...
Cited by 9 - Web Search - co-oncology.com - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov - Get it from MIT Libraries

Genetic and molecular abnormalities in tumors of the bone and soft tissues - Full text - MIT Libraries
GD Letson, CA Muro-Cacho - Cancer Control, 2001 - moffitt.usf.edu
... Alveolar rhabdomyosarcoma t(2;13)(q35;q14) PAX3-FKHR 39, 40 ... Neurofibromatosis type
1 (NF1) is an autosomal dominant disorder affecting 1 in 3,000 people and ...
Cited by 7 - View as HTML - Web Search - issoonline.com - issoonline.com - ncbi.nlm.nih.gov - all 5 versions »

Neural crest and cardiovascular patterning - Full text - MIT Libraries
ML Kirby, KL Waldo - Circ Res, 1995 - circresaha.org
... Pax3 recognizes a sequence within the 3'UTR of the murine neurofibromatosis
gene Nf1. Circulation. 1994;90(suppl I):I-635. Abstract. ...
Cited by 166 - Web Search - circres.ahajournals.org - circres.ahajournals.org - ncbi.nlm.nih.gov

Transgenic rescue of congenital heart disease and spina bifida in Splotch mice - Full text - MIT Libraries
J Li, KC Liu, F Jin, MM Lu, JA Epstein - Development, 1999 - dev.biologists.org
... characterized by pigmentation defects, deafness, and sometimes limb muscle
abnormalities, can be caused by dominant mutations in the PAX3 gene (Tassabehji ...
Cited by 38 - Web Search - hunterlab.med.tufts.edu - uphs.upenn.edu - ncbi.nlm.nih.gov - all 5 versions »

PlexinA2 and semaphorin signaling during cardiac neural crest development - Full text - MIT Libraries
CB Brown, L Feiner, MM Lu, J Li, X Ma, AL Webber, … - Development, 2001 - dev.biologists.org
... Examples include Pax3 (Epstein, 1996 ), Endothelin receptor A (Ednra; Yanagisawa
et al., 1998 ), Neurofibromatosis type 1 (Nf1; Brannan et al., 1994 ; Jacks et ...
Cited by 34 - Web Search - uphs.upenn.edu - dev.biologists.org - ncbi.nlm.nih.gov

REVIEW ARTICLES Transcriptional Regulation of Cardiac Development: Implications for Congenital Heart …
JA EPSTEIN, CA BUCK - PEDIATRIC RESEARCH, 2000 - uphs.upenn.edu
... Cardiovascular malformations and other cardiac abnormalities in neurofibro- matosis
1 (NF1). ... Epstein JA 1996 Pax3, neural crest and cardiovascular development. ...
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Pediatric Solid Tumors: Dose Intensity and Targeted Therapy
NKV Cheung - ishapd.org
... Rhabdomyosarcoma t(2;13)(q35;q14) PAX3-FKHR 95% t(1;13)(p36;q14) PAX7-FKHR 5% ... PNET,
glioma 17q11 NF1 327 kD stimulator of ras- neuroblastoma specific GTPase ...
View as HTML - Web Search - haem.nus.edu.sg

Table 2. Gene Mutations Demonstrating Cardiac Phenotypes
N Phenotype - ahavj.ahajournals.org
... Nf1 (neurofibromatosis 1), EC cushion defect, DORV, 32. ... Ntf3 (neurotrophin 3), PTA,
IAA, CT defects, 108. Pax3 (paired box gene 3), PTA, CT defects, 109. ...
Web Search

Second Israeli-German Bi-National Conference Current Concepts in Pediatric Oncology and Hematology
O Session - Monatsschrift Kinderheilkunde, 2002 - springerlink.com
Page 1. Abstracts | Monatsschrift Kinderheilkunde 10•2002 1278 Topic 1:
Stem cell therapy in malignant and non-malignant diseases ...
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Paediatrische Onkologie
P Onkologie - Monatsschrift Kinderheilkunde, 2002 - springerlink.com
... Ektope Expression 17q21 HER2 (ERBB2) Osteosarkom 2q35/1p36 PAX3/7 Rhabdomyosarkom,
emb. ... 11q13 WT1/2 Nephroblastom 17q11 NF1 Neurofibrosarkom 22q12 NF2 Meningeom ...
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Tissue culture methods to study neurological disorders: Establishment of immortalized Schwann cells … - Full text - MIT Libraries
K Watabe, T Sakamoto, Y Kawazoe, M Michikawa, K … - Neuropathology, 2003 - ingentaconnect.com
... 5¢-TCATCTCACCTTGC TCCTGC-3¢; pMC1neopAR, 5¢-TATGTCCTGATAGCG GTCCG-3¢); NF1 17 (NF31a ...
protein (MAL/ MVP17/VIP17); (ii) transcription factors: Pax3, Krox-20 ...
Cited by 2 - Web Search - ncbi.nlm.nih.gov

Satellite Meeting and Evening Session Reports - Full text - MIT Libraries
J Nagoya - Pigment Cell Res, 2000 - ingentaconnect.com
... National Institutes of Health, USA Comparison of the Roles of Pax3 and Mitf ... isoforms
of SCF) with transgenic or knockout mice, including an Nf1 knockout, which ...
Web Search

NEUROSCIENCE
V Semaphorin, N Neuropilin, V Semaphorin, N … - woongbee.com
... Neurulation requires the expression of Pax3, a paired box gene expressed
exclusively during embryogenesis. 13 Pax3 regulates neural ...
View as HTML - Web Search - rndsystems.com - rndsystems.com

Gene-targeting approaches in the study of cellular processes involved in growth or differentiation
KS Gen YAMADA, ET STUART - Eur. J. Biochem, 1994 - blackwell-synergy.com
... NF1 -/-mice show many developmental abnormali- ties in heart and neural crest ... to
be involved in three mouse mutants, undulated (Paxl), splotch (Pax3) and small ...
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122 SARCOMAS OF NONOSSEOUS TISSUES
PWT Pisters, B O’Sullivan, GD Demetri - cancer.org
... Common mutations in NF1 include trunca- tions, with loss of function, which lead
to uncontrolled ... and others) PNET Rhabdomyosarcoma t(2;13) or t(1;13) PAX3 (or 7 ...
View as HTML - Web Search

ROLE OF CARDIAC NEURAL CREST CELLS IN CARDIOVASCULAR DEVELOPMENT - Full text - MIT Libraries
TL Creazzo, RE Godt, L Leatherbury, SJ Conway, ML … - Annual Review of Physiology, 1998 - intl-med.annualreviews.org
... 19). The Splotch (Sp 2H ) mutant mouse contains a 32-base pair deletion
of the DNA-binding transcription factor Pax3 (19, 20). It ...
Cited by 81 - Web Search - intl-med.annualreviews.org - phyto.annualreviews.org - ncbi.nlm.nih.gov

A canine cancer-gene microarray for CGH analysis of tumors - Full text - MIT Libraries
R Thomas, H Fiegler, EA Ostrander, F Galibert, NP … - Cytogenetic and Genome Research, 2003 - content.karger.com
... 008 445 NF1 9q23 037 322 CFA 13 13q21.1–q21.2 ++ 066 202 CFA 31 31q12 ... 016 646
CFA 11 11q12.3–q13 045 671 CFA 14 14q14 074 453 PAX3 37q16–q17 ...
Cited by 5 - Web Search - dx.doi.org - karger.com - ncbi.nlm.nih.gov - all 5 versions »

Poster Presentations (PP001-PP100)
LTCAI Pigment, M Sugimoto, O Isolation, RE Mayer, … - blackwell-synergy.com
... ''Pax3 and Pax7 Proteins Expression Patterns in Early Trunk Neural Crest and ... Analysis
in Melanocytes, Keratinocytes and Fibroblasts Obtained from NF1 Cafe-Au ...
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High incidence of malformation syndromes in a series of 1, 073 children with cancer - Full text - MIT Libraries
JHM Merks, HN Caron, RCM Hennekam - American Journal of Medical Genetics Part A, 2005 - doi.wiley.com
... Chromosomal Rb Yes À Bunin e t a l. [1989] 302 N F I Germ cell tumor A D NF1 Pending
À Groot-Loonen et al. [ 1988] 1,073 NF I MPNST AD Deletion 17q11.2 Y es ...
Web Search - ncbi.nlm.nih.gov

Array CGH detection of a cryptic deletion in a complex chromosome rearrangement - Full text - MIT Libraries
C Rosenberg, J Knijnenburg, ML Chauffaille, D … - Human Genetics, 2005 - springerlink.com
... instrumental in the mapping of several disease genes, such as, DMD, NF1 and mesomelic ...
2002) A cryptic deletion of 2q35 including part of the PAX3 gene detected ...
Web Search - ncbi.nlm.nih.gov

The Molecular Basis of Vascular Disorders - Full text - MIT Libraries
JA Towbin, B Casey, J Belmont - The American Journal of Human Genetics, 1999 - journals.uchicago.edu
... a subset of Pax3-deficient mice have similar defects (Belmont 1998). Additional
mutations in the transcription factors Rxr and Sox4 and in the Nf1 gene give ...
Cited by 12 - Web Search - 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
... eg PAX genes), growth factors and signaling molecules (Sonic hedgehog), ligands
(FGFR1-3), signal transduction pathway genes (NF1), extracellular matrix ...
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The Genodermatoses: Candidate Diseases for Gene Therapy - Full text - MIT Libraries
J Uitto, L Pulkkinen - Human Gene Therapy, 2000 - dx.doi.org
... (2000) Pigmentation disorders Waardenburg syndrome PAX3 Nordlund et al. (1998) ... (1996)
Neurofibromatosis NF1, NF2 Wallace et al. (1991); Rouleau et al. (1993) ...
Cited by 16 - Web Search - liebertonline.com - liebertonline.com - ncbi.nlm.nih.gov

The Role of Kit-Ligand in Melanocyte Development and Epidermal Homeostasis - Full text - MIT Libraries
B Wehrle-Haller - Pigment Cell Research, 2003 - blackwell-synergy.com
... megacolon, Sox10 Dom ) (58, 59) or Pax3 (Splotch, Pax3 Sp ) (60 ... In these neurofibromin1
(Nf1) knockout mice, melanocyte precursors are immortalized, resulting ...
Cited by 11 - Web Search - ingentaconnect.com - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Malformations of the Craniofacial Region: Evolutionary, Embryonic, Genetic, and Clinical …
M MICHAEL COHEN JR - American Journal of Medical Genetics (Semin. Med. Genet.), 2002 - doi.wiley.com
... Waardenburg syndrome, type 1 2q37 PAX3 Waardenburg syndrome, type 2 3p12-p14 MITF ...
Mucopolysaccharidosis IVA 16q24.3 GALNS Neurofibromatosis, type 1 17q11.2 NF1 ...
Cited by 12 - Web Search - ncbi.nlm.nih.gov - Get it from MIT Libraries

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 ...
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BMC Bioinformatics - Full text - MIT Libraries
SD Mooney, TE Klein - BMC Bioinformatics, 2002 - biomedcentral.com
... ATP7A 0.62 GALE 0.75 NAGA 1.01 SLC2A2 0.58 ATP7B 0.36 GALK1 1.18 NF1 1.05
SLC3A1 0.89 ... CAV3 0.70 GP1BA 1.08 PAX3 0.86 TGFBI 0.55 ...
View as HTML - Web Search - bmc.ub.uni-potsdam.de - gdrs-intranet.ath.cx - smi-web.stanford.edu - all 6 versions »

Pigmented (melanotic) neurofibroma. Report of an unusual case with immunohistochemical, … - Full text - MIT Libraries
C Kuhnen, P Herter, C Soimaru, HH Homann, G Johnen - Pathol Res Pract, 2002 - ingentaconnect.com
... genes upstream in the transcriptional hierarchy, eg SOX10 and PAX3, should be ... in
cultured epidermal melanocytes from patients with neurofibromatosis 1 (NF1). ...
Web Search - ncbi.nlm.nih.gov

TUMEURS DE LA VERGE
ICE ET, IPAR HPV - urofrance.org
... Neurofibromatose de Autosomique 17q11.2 (NF1) Taches café au lait, neurofibromes,
OMIM 162200 ... fusion des gènes PAX3 (2q35) et FKHR (13q14) dans le premier cas ...
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Direct Interaction of Sox10 with the Promoter of Murine Dopachrome - Full text - MIT Libraries
Z JIAO, R MOLLAAGHABABA, WJ PAVAN, A ANTONELLIS, … - PIGMENT CELL RES, 2004 - ingentaconnect.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 ...
Cited by 5 - Web Search - ncbi.nlm.nih.gov