Is the distribution of dermal neurofibromas in neurofibromatosis type 1 (NF1) related to the pattern …
A et Biotech - john-libbey-eurotext.fr
... X, Lenard HG, Lazaro C. Schwann cells harbor the somatic NF1 mutation in ... dependent
sex determination in the american alligator: AMH precedes SOX9 expression. ...
Cached - Web Search

Essential role of Sox9 in the pathway that controls formation of cardiac valves and septa - Full text - MIT Libraries
H Akiyama, MC Chaboissier, RR Behringer, DH … - Proc Natl Acad Sci US A, 2004 - pubmedcentral.nih.gov
... 21, 22), Neuregulin (31), ErbB3 (25), type 1 neurofibromatosis (Nf1) (15), PDGFRa
(29 ... The analysis of Sox9-deficient embryos indicates that the processes of ...
Cited by 3 - Web Search - uphs.upenn.edu - dx.doi.org - pnas.org - all 6 versions »

Highly conserved proximal promoter element harboring paired Sox9-binding sites contributes to the … - Full text - MIT Libraries
O Rentsendorj, A Nagy, I Sinko, A Daraba, E Barta, … - Biochem J, 2005 - biochemj.org
Page 1. Highly conserved proximal promoter element harboring paired Sox9- ...
In addition, some of the Sox proteins (eg Sox9) have a ...
View as HTML - Web Search - biochemj.org - 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
... Gene expression profiling of cultured human NF1 heterozygous (NF1 +/ ) melanocytes
reveals downregulation of a transcriptional cis-regulatory network mediating ...
Web Search - ingentaconnect.com

Involvement of a palindromic chromosome 22-specific low-copy repeat in a constitutional t (X; 22)(q … - Full text - MIT Libraries
P Debeer, R Mols, C Huysmans, K Devriendt, WJM Van … - Clinical Genetics, 2002 - ingentaconnect.com
... Precise localization of NF1-17q11.2 by balanced trans- location. ... dysplasia translocation
breakpoints are scattered over 1 Mb proximal to SOX9: evidence for an ...
Cited by 5 - Web Search - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Topoisomerase-II Is Upregulated in Malignant Peripheral Nerve Sheath Tumors and Associated With … - Full text - MIT Libraries
RI Skotheim, A Kallioniemi, B Bjerkhagen, F … - Journal of Clinical Oncology, 2003 - folk.uio.no
... numbers of chromosome arm 17q, distal to the NF1 gene, was seen in 63%. ... AP2B1 FLJ10458
TADA2L TOP2A MGC45562 JUP FKBP10 VMP1 MRC2 HAN11 DDX5 SOX9 TIMP2 PYCR1 ...
Cited by 3 - View as HTML - Web Search - dx.doi.org - ncbi.nlm.nih.gov

Short Report Involvement of a palindromic chromosome 22-specific low-copy repeat in a constitutional … - Full text - MIT Libraries
P Debeer, R Mols, C Huysmans, K Devriendt, WJM Van … - Clinical Genetics, 2002 - blackwell-synergy.com
... breakpoint in the present patient maps in the non-AT rich palindromic NF1-like sequence ...
up to 1 Mb away from the target gene have been described for SOX9 and SHH ...
Web Search

Identification of Potential Modifiers of Runx 2/Cbfa 1 Activity in C 2 C 12 Cells in Response to …
K Gu, L Zhang, T Jin, RB Rutherford - Cells Tissues Organs, 2004 - content.karger.com
... Type II collagen is cartilage spe- cific and Sox9 binds its promoter region, inducing ...
NF1-A and FosB seem to bind Cbfa1 promoter region [Zambotti et al., 2002 ...
Cited by 2 - Web Search - dx.doi.org - karger.com - ncbi.nlm.nih.gov - all 5 versions » - Get it from MIT Libraries

Mutations in human diseases: nature and consequences
SE Antonarakis - Emery and Rimoin's Principles and Practice of Medical …, 1996 - jax.org
... NF1 gene in neurofibromatosis. ... gene DeKok et al HumMolGenet 5:1229,96; Campomelic
dysplasia and translocation breakpoints over 1 Mb proximal to SOX9 Pfeifer et ...
Cited by 1 - View as HTML - Web Search

Control of RUNX 2 isoform expression: The role of promoters and enhancers - Full text - MIT Libraries
M Stock, F Otto - Journal of Cellular Biochemistry, 2005 - doi.wiley.com
... Interestingly Sox9 was decreased in Runx2 overexpressing C3H10T1/2 embryonic fibro-
blasts [Stock et al., 2004 ... It contains binding sites for AP1 and NF1 factors ...
Web Search - ncbi.nlm.nih.gov

Sox21 promotes the progression of vertebrate neurogenesis - Full text - MIT Libraries
M Sandberg, M Kaellstroem, J Muhr - Nature Neuroscience, 2005 - nature.com
... Furthermore, cells expressing the definitive neuronal markers 6, 20 NeuN, Tuj1 or
NF1, or the interneuron marker 21 Lim2, were generally Sox21-negative (Fig. ...
Web Search - nature.com

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
... Neurofibromatosis, type 1 17q11.2 NF1 Tricho-dento-osseous syndrome 17q21 DLX3
Osteogenesis imperfecta 17q21.31-q22.05 COL1A1 Campomelic dysplasia 17q24.3 SOX9 ...
Cited by 12 - Web Search - ncbi.nlm.nih.gov - Get it from MIT Libraries

Cloning of translocation breakpoints associated with Shwachman syndrome and identification of a … - Full text - MIT Libraries
S Ikegawa, M Masuno, Y Kumano, A Okawa, M Isomura, … - Clinical Genetics, 1999 - blackwell-synergy.com
... occurring more than 100 kb distant from the SOX9 gene has ... Bernheim A, Danglot G.
Emergence and scattering of multiple neurofibromatosis (NF1)-related sequences ...
Cited by 7 - 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
... Sonic hedgehog), ligands (FGFR1-3), signal transduction pathway genes (NF1),
extracellular matrix ... Campomelic dysplasia 114290 114290 17q24.3-q25.1 SOX9 SRY-box ...
Web Search - ncbi.nlm.nih.gov - Get it from MIT Libraries

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 ... CACNA1F 0.31 GJB3 0.98 OCRL 0.62 SOX9 0.17 ...
View as HTML - Web Search - bmc.ub.uni-potsdam.de - gdrs-intranet.ath.cx - smi-web.stanford.edu - all 6 versions »

Identical mutations and phenotypic variation - Full text - MIT Libraries
U Wolf - Human Genetics, 1997 - springerlink.com
... and III 4 families SOX9 17q24.3- Frameshift after SRY-related Campomelic
dysplasia Two unrelated Kwok et al. 1995 q25.1 codon 368 ...
Cited by 54 - Web Search - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Developmental Biology: Frontiers for Clinical Genetics Fishing for new genes in skin biology: impact … - Full text - MIT Libraries
M Tadin-Strapps, D Warburton, JC Salas-Alanis, LD … - Clinical Genetics, 2004 - blackwell-synergy.com
... 5. Wallace MR, Marchuk DA, Andersen LB. Type 1 neurofibromatosis gene:
identification of a large transcript disrupted in three NF1 patients. ...
Web Search - ncbi.nlm.nih.gov

Recent innovations in tissue-specific gene modifications in the mouse
Y Furuta, RR Behringer - Birth Defects Research Part C Embryo Today Reviews, 2005 - doi.wiley.com
Page 1. Recent Innovations in Tissue-Specific Gene Modifications in the Mouse
Yasuhide Furuta and Richard R. Behringer* INTRODUCTION ...
Web Search - ncbi.nlm.nih.gov - Get it from MIT Libraries

A statistical analysis of the TRANSFAC database.
GB Fogel, DG Weekes, G Varga, ER Dow, AM Craven, … - Biosystems, 2005 - natural-selection.com
... 2 MINI20 B Muscle initiator sequence-20 MUSCLE INI B Muscle initiator NF1 Q6 Nuclear ...
transcription factor identified in lymphoid B-cells S8 01 S8 SOX9 B1 SOX ...
View as HTML - Web Search - ncbi.nlm.nih.gov - Get it from MIT Libraries

SF-1 a key player in the development and differentiation of steroidogenic tissues - Full text - MIT Libraries
P Val, AM Lefrancois-Martinez, G Veyssiere, A … - Nuclear Receptor, 2003 - dx.doi.org
... borne SRY gene. SRY activation in turn triggers expression of SOX9 which
stimulates MIS transcription in Sertoli cells. This hormone ...
Cited by 11 - Web Search - pubmedcentral.nih.gov - nuclear-receptor.com - citebase.eprints.org - all 9 versions »

Nuclear Receptor - Full text - MIT Libraries
N Receptor - Nuclear Receptor, 2003 - gdrs-intranet.ath.cx
... gene. SRY activation in turn triggers expression of SOX9 which stimulates MIS
transcription in Sertoli cells. ... Sox9 and SF-1 are colocalized in somatic cells of ...
View as HTML - Web Search

DAX-1, an unusual orphan receptor at the crossroads of steroidogenic function and sexual … - Full text - MIT Libraries
E Lalli, P Sassone-Corsi - Mol Endocrinol, 2003 - mend.endojournals.org
... protein), and ubiquitous transcription factors NF1 (nuclear factor 1) and Sp1 ... McElreavey
K, Lindsay S, Robson S, Bullen P, Ostrer H, Wilson DI 2000 SRY, SOX9, ...
Cited by 11 - Web Search - mend.endojournals.org - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Nuclear Receptor - Full text - MIT Libraries
P Val, AM Lefrancois-Martinez, G Veyssiere, A … - Nuclear Receptor, 2003 - bmc.ub.uni-potsdam.de
... mice are shown. Molecular players in male sex (SRY, SOX9, SF-1, Dax-1) and
female sex determination (Wnt4, Dax-1) are shown. Dax-1 ...
Cited by 1 - View as HTML - Web Search

A field of myocardial-endocardial NFAT signaling underlies heart valve morphogenesis - Full text - MIT Libraries
CP Chang, JR Neilson, JH Bayle, JE Gestwicki, A … - Cell, 2004 - crablab.stanford.edu
Page 1. Cell, Vol. 118, 649–663, September 3, 2004, Copyright 2004 by
Cell Press A Field of Myocardial-Endocardial NFAT Signaling ...
Cited by 3 - View as HTML - Web Search - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Mutations in Human Genetic Diseases
SE Antonarakis, DN Cooper - Nature Encyclopedia of the Human Genome, 2003 - jax.org
Page 1. Mutations in Human Genetic Disease Stylianos E Antonarakis, University
of Geneva Medical School, Geneva, Switzerland David ...
Cited by 3 - View as HTML - Web Search

Conditional alleles in mice: Practical considerations for tissue-specific knockouts - Full text - MIT Libraries
KM Kwan - genesis, 2002 - doi.wiley.com
... c-Myc 15 (32.0) F de Alboran et al., 2001 Nf1 (neurofibromatosis type 1) 11
(46.1) ΠZhu et al., 2001 ... Sox9 11 (69.5) F Kist et al., 2002* ...
Cited by 27 - Web Search - tagc.univ-mrs.fr - biochem.wisc.edu - ncbi.nlm.nih.gov - all 6 versions »

31st EUROPEAN SYMPOSIUM ON CALCIFIED TISSUES Nice, France, 5-9 June 2004 PROGRAMME AND ABSTRACTS - Full text - MIT Libraries
P Overview, P Day-by-Day - Calcif Tissue Int, 2004 - springerlink.com
Page 1. 31st EUROPEAN SYMPOSIUM ON CALCIFIED TISSUES Nice, France, 5-9 June 2004
PROGRAMME AND ABSTRACTS Table of Contents Committees and Contact Information . ...
Web Search

Bases fisiologicas, moleculares, diagnosticas y terapeuticas del crecimiento
J Argente - seep.es
... pero aún se ignora su mecanismo patogénico Displasia campomélica (SOX9-factor de ...
Disregulación de la proliferación celular Mutaciones del gen NF1 17q11.2 ...
View as HTML - Web Search

REGULATION TRANSCRIPTIONNELLE DU GENE SRY HUMAIN ET PORCIN PAR LE FACTEUR DE TRANSCRIPTION GATA-4.
F DE MEDECINE - theses.ulaval.ca
... L’activité transcriptionnelle de Sox9 est aussi responsable en partie de la ... vMyb,
NF1, Oct1, Sp1 et SRY) sans toutefois de conservation au niveau de leur ...
View as HTML - Web Search

Proof of genetic heterogeneity in cardiac septal defects and in heterotaxy
F de Medecine - edoc.bib.ucl.ac.be
... N NFAT: nuclear factor of activated T-cells NFATc1: nuclear factor of activated
T-cells component 1 NF1: neurofibromin 1 NKX2-5: NK2 transcription factor ...
View as HTML - Web Search