Mutations in FOXC2 (MFH-1), a forkhead family transcription factor, are responsible for the … - Full text - MIT Libraries
J Fang, SL Dagenais, RP Erickson, MF Arlt, MW … - Am J Hum Genet, 2000 - journals.uchicago.edu
... SOX9 inactivation from breakpoints as far as 850 kb away from the gene has been
observed. ... (1998) was caused by in- activation of FOXC1, as a result of a ...
Cited by 90 - Web Search - journals.uchicago.edu - 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
... Axenfeld anomaly 601090 601090 6p25 FOXC1 Forkhead, Drosophila, homolog-like 7 ...
Campomelic dysplasia 114290 114290 17q24.3-q25.1 SOX9 SRY-box 9 ...
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Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, … - Full text - MIT Libraries
RV Jamieson, R Perveen, B Kerr, M Carette, J … - Human Molecular Genetics, 2002 - hmg.oupjournals.org
... distances of 1 Mb from the affected gene have been described for SOX9 in both ... At
least three missense mutations in the DNA-binding domains of FOXC1 and PITX2 ...
Cited by 34 - Web Search - hmg.oupjournals.org - ingentaconnect.com - ncbi.nlm.nih.gov - all 5 versions »

The genetic and molecular basis of congenital eye defects - Full text - MIT Libraries
J Graw - Nature Reviews Genetics, 2003 - nature.com
... BM, Huang, W., de Crombrugghe, B., Ayala, AG & Czerniak, B. Sox9, a master ... A spectrum
of FOXC1 mutations suggests gene dosage as a mechanism for developmental ...
Cited by 16 - Web Search - nature.com - ncbi.nlm.nih.gov

Deletions Involving Long-Range Conserved Nongenic Sequences Upstream and Downstream of FOXL2 as a … - Full text - MIT Libraries
D Beysen, J Raes, BP Leroy, A Lucassen, JRW Yates, … - Am. J. Hum. Genet, 2005 - journals.uchicago.edu
... by the occurrence of chromosomal rearrangements (translocations) upstream (FOXC1)
and downstream ... CNG1 and CNG2; and for embryonic gonadal regulator SOX9 in CNG3 ...
Web Search - bioinformatics.psb.ugent.be - ncbi.nlm.nih.gov

Long-Range Control of Gene Expression: Emerging Mechanisms and Disruption in Disease - Full text - MIT Libraries
DA Kleinjan, V van Heyningen - The American Journal of Human Genetics, 2005 - journals.uchicago.edu
... 1999). Despite the large distance, this patient could well represent another FOXC1
position-effect case. ... SOX9 Campomelic Dysplasia (CD) and Sex Determination. ...
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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
... Foxc2 (Mfh1) helix transcription (Foxc1 ª/ª and factor Foxc1 π/ª ; Foxc2
π/ª ) ... Campomelic Dysplasia SOX9 dysplasia, hydronephrosis ...
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Twist is required for patterning the cranial nerves and maintaining the viability of mesodermal … - Full text - MIT Libraries
MS Ota, DAF Loebel, MP O'Rourke, N Wong, B Tsoi, … - Developmental Dynamics, 2004 - doi.wiley.com
... In wild- type embryos, Sox10 is down-regu- lated and Sox9 and Gsc are up-reg- ulated
in the postmigratory NCCs in the branchial arches, but this ... 2C,D), Foxc1/ ...
Cited by 1 - Web Search - 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
... Transcription factors: BF2 [28], EMX2 [29], EYA1 [30,31], hepatocyte nuclear
factors (HNF) [32], FOXc1 and FOXc2 [33], HOXa11 and ...
Cited by 8 - Web Search - ncbi.nlm.nih.gov