Foxe3 haploinsufficiency in mice: a model for Peters’ anomaly - Full text - MIT Libraries
M Ormestad, A Blixt, A Churchill, T Martinsson, S … - Invest Ophthalmol Vis Sci, 2002 - iovs.org
... 17 18 19 Both Pax6 and FOXC1 cause eye malformations, not only when the gene dosage
is decreased, but also when it is increased, 20 21 which further emphasizes ...
Cited by 12 - Web Search - iovs.org - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

A spectrum of FOXC1 mutations suggests gene dosage as a mechanism for developmental defects of the … - Full text - MIT Libraries
DY Nishimura, CC Searby, WL Alward, D Walton, JE … - Am. J. Hum. Genet, 2001 - journals.uchicago.edu
... carry multiple copies of PAX6 on a wild-type background were found to have
developmental abnormalities of the eye. Thus, similar studies with FOXC1 may prove ...
Cited by 44 - Web Search - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Anterior segment dysgenesis and the developmental glaucomas are complex traits - Full text - MIT Libraries
DB Gould, SW John - Human Molecular Genetics, 2002 - hmg.oupjournals.org
... As for Pax6 and Foxc1, even though homozygous mutants have very severe developmental
abnormalities or do not survive, heterozygotes may have ASD and IOP ...
Cited by 16 - Web Search - hmg.oupjournals.org - ingentaconnect.com - ncbi.nlm.nih.gov - all 5 versions »

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
... The extra copy of MAF may contribute to the more severe ocular phenotype as seen
with increased dosage effects of Pax6 and FOXC1 in the eye (49,50). ...
Cited by 34 - Web Search - hmg.oupjournals.org - ingentaconnect.com - ncbi.nlm.nih.gov - all 5 versions »

Haploinsufficient Bmp 4 ocular phenotypes include anterior segment dysgenesis with elevated … - Full text - MIT Libraries
B Chang, R Smith, M Peters, O Savinova, N Hawes, A … - BMC Genetics, 2001 - biomedcentral.com
... These genes include PITX2, PITX3, PAX6, FOXC1 (previously known as FKHL7 and FREAC3),
Foxc2 and FOXE3[4-9]. Activity levels for these transcription factors ...
Cited by 15 - Cached - Web Search - dx.doi.org - pubmedcentral.nih.gov - jbiol.com - all 11 versions »

Screening for mutations of Axenfeld–Rieger syndrome caused by FOXC1 gene in Japanese patients
C Kawase, K Kawase, T Taniguchi, K Sugiyama, T … - J Glaucoma, 2001 - glaucomajournal.com
... The two remaining ARS probands had no mutations on FOXC1, PITX2, CYP1B1 and
PAX6 genes. Pedigree 1: Frame-Shift Mutation 26-47ins22 TOP. ...
Cited by 7 - Web Search - glaucomajournal.com - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov - Get it from MIT Libraries

Chromosomal translocation in a family with ocular anomalies: indications for karyotype analysis - Full text - MIT Libraries
RV Jamieson, L Gaunt, D Donnai, GC Black, B Kerr, … - British Journal of Ophthalmology, 2003 - dx.doi.org
... frequently reported in the ophthalmic literature and contributions to identification
of several genes in human eye disease, including PAX6, FOXC1, PITX2, and ...
Cited by 2 - Web Search - bjo.bmjjournals.com - bjo.bmjjournals.com - ncbi.nlm.nih.gov

Pax6 heterozygous eyes show defects in chamber angle differentiation that are associated with a wide … - Full text - MIT Libraries
DC Baulmann, A Ohlmann, C Flugel-Koch, S Goswami, … - Mech. Dev, 2002 - biologie.uni-regensburg.de
... In addition to Pax6, a substantial number of transcription factors (Pitx2, Pitx3,
Foxc1, Foxe3, Lmx1b, Maf) has been identified to play a role for the proper ...
Cited by 13 - View as HTML - Web Search - ingentaconnect.com - ncbi.nlm.nih.gov - all 4 versions »

BMC Genetics - Full text - MIT Libraries
B Chang, RS Smith, M Peters, OV Savinova, NL Hawes … - BMC Genetics, 2001 - biomedcentral.com
... These genes include PITX2, PITX3, PAX6, FOXC1 (previously known as FKHL7 and FREAC3),
Foxc2 and FOXE3 [4–9]. Activity levels for these transcription factors ...
View as HTML - Web Search - bmc.ub.uni-potsdam.de

Molecular basis of Peters anomaly in Saudi Arabia Deepak P. Edward Ali Al Rajhi 2
RA Lewis, SA Curry, Z Wang, BA Bejjani - Ophthalmic Genetics, 2004 - dx.doi.org
... mutations. Mutations in possible genetic modifiers such as PAX6, PITX2, FOXC1,
and FOXE3 were excluded by sequence analysis. Perhaps ...
Web Search - taylorandfrancis.metapress.com

Molecular basis of Peters anomaly in Saudi Arabia
D Edward, AA Rajhi, RA Lewis, S Curry, Z Wang, B … - Ophthalmic Genetics, 2004 - ingentaconnect.com
... Five individuals were homozygous for G61E and one was homozygous for 143del10. No
mutations were identified in FOXC1 , PITX2 , PAX6 , or FOXE3 . ...
Web Search - ncbi.nlm.nih.gov - Get it from MIT Libraries

Introducing Michael A. Walter, the 2002 Recipient of the Cogan Award - Full text - MIT Libraries
IM MacDonald - Investigative Ophthalmology & Visual Science, 2003 - dx.doi.org
... Mutation of the PAX6 gene in patients with autosomal dominant keratitis. ... and
Sheffield’s independently showed that FKHL7, now renamed FOXC1, was mutated in ...
Web Search - iovs.org - iovs.org

A new phenotype of recessively inherited foveal hypoplasia and anterior segment dysgenesis maps to a … - Full text - MIT Libraries
B Pal, MD Mohamed, TJ Keen, GA Williams, JA … - Journal of Medical Genetics, 2004 - jmg.bmjjournals.com
... ASD phenotypes are genetically heterogeneous, 6 resulting from mutations in seven
different transcription factor genes (PAX6, PITX2, PITX3, FOXC1, FOXE3, LXM1B ...
Web Search - jmedgenet.com - dx.doi.org - ncbi.nlm.nih.gov - all 5 versions »

A novel syndrome of congenital lid and punctal anomalies, corneal and chorioretinal dystrophy Thomas …
M Hebert, IM MacDonald - Ophthalmic Genetics, 2003 - taylorandfrancis.metapress.com
... appear to represent a novel syndrome. Direct sequencing of PAX6 and the
DNA-binding domain of FOXC1 failed to detect a mutation. ...
Web Search

Molecular genetics of Axenfeld-Rieger malformations - Full text - MIT Libraries
MA Lines, K Kozlowski, MA Walter - Human Molecular Genetics, 2002 - hmg.oupjournals.org
... Other loci: PAX6 and MAF Prevalence studies of FOXC1 and PITX2 suggest that there
are likely other candidates, remaining to be cloned, that contribute to the ...
Cited by 15 - Web Search - hmg.oupjournals.org - ingentaconnect.com - ncbi.nlm.nih.gov - all 5 versions »

Ocular developmental abnormalities and glaucoma associated with interstitial 6p25 duplications and … - Full text - MIT Libraries
OJ Lehmann, ND Ebenezer, R Ekong, L Ocaka, AJ … - Invest Ophthalmol Vis Sci, 2002 - iovs.org
... It remains to be determined whether the pathogenicity of altered gene dosage, suggested
with FOXC1 and previously demonstrated with PAX6, 31 applies more ...
Cited by 14 - Web Search - iovs.org - ncbi.nlm.nih.gov

Genetic basis of glaucoma
D WuDunn, FB Wein, LA Levin, DS Greenfield, CA … - Curr Opin Ophthalmol, 2002 - co-ophthalmology.com
... a case of Rieger syndrome associated with a deletion in the PAX6 gene on ... cases of
Axenfeld-Rieger anomaly linked to 6p25 have mutations in FOXC1 (formerly FKHL7 ...
Cited by 20 - Web Search - co-ophthalmology.com - ncbi.nlm.nih.gov - Get it from MIT Libraries

Forkhead Genes: Their Role andImpact on Ocular Developmental Diseases
Y Tamimi, T Murphy, M Walter - Current Genomics, 2004 - ingentaconnect.com
... These AR- associated genes FOXC1, PITX2, and PAX6 encodetranscription factors
and play important roles in embryonic development [25-27]. ...
Web Search

Functional analyses of two newly identified PITX 2 mutants reveal a novel molecular mechanism for … - Full text - MIT Libraries
M Priston, K Kozlowski, D Gill, K Letwin, Y Buys, … - Human Molecular Genetics, 2001 - hmg.oupjournals.org
... causing is supported by recent studies demonstrating that three copies (with presumably
increased amounts of protein activity) of FOXC1 and PAX6 also disrupt ...
Cited by 28 - Web Search - hmg.oupjournals.org - ingentaconnect.com - ncbi.nlm.nih.gov - all 6 versions »

The genetic and molecular basis of congenital eye defects - Full text - MIT Libraries
J Graw - Nature Reviews Genetics, 2003 - nature.com
... 32. Ashery-Padan, R. & Gruss, P. Pax6 lights-up the way for eye development ... A spectrum
of FOXC1 mutations suggests gene dosage as a mechanism for developmental ...
Cited by 16 - Web Search - nature.com - ncbi.nlm.nih.gov

Clinical Science Primary infantile glaucoma in an Australian population - Full text - MIT Libraries
JRMK FRCOphth, AG FRANZCO, JEE FRANZCO, JECDP … - Clinical & Experimental Ophthalmology, 2004 - blackwell-synergy.com
... and aniridia 23 . The genes PITX2, FOXC1 and PAX6 have been identified
as causes of these secondary glaucomas 24 . Syndromes with ...
Web Search

Fox's in development and disease
OJ Lehmann, JC Sowden, P Carlsson, T Jordan, SS … - Trends Genet, 2003 - urchin.earth.li
... by foregut development in Drosophila or mice (FoxA) or eyeless/Pax6 in formation ...
function observed with closely related forkhead genes such as Foxc1/Foxc2, or ...
Cited by 20 - View as HTML - Web Search - ingentaconnect.com - ncbi.nlm.nih.gov - all 5 versions » - Get it from MIT Libraries

A clinical and molecular genetic study of a rare dominantly inherited syndrome(MRCS) comprising of … - Full text - MIT Libraries
MA Reddy, PJ Francis, V Berry, K Bradshaw, RJ … - British Journal of Ophthalmology, 2003 - bjo.bmjjournals.com
... Some—for example PAX6 1 , CHX10, 2 and SIX3, 3 are associated with small eyes and
others, PITX2, 4 PITX3, 5 FOXC1, 6 FOXE3, 7 PAX6, 8 EYA1, 9 MAF, 10 and ...
Cited by 1 - Web Search - dx.doi.org - bjo.bmjjournals.com - ncbi.nlm.nih.gov

A major marker for normal tension glaucoma: association with polymorphisms in the OPA 1 gene - Full text - MIT Libraries
T Aung, L Ocaka, N Ebenezer, A Morris, M Krawczak, … - Human Genetics, 2002 - springerlink.com
... Since different mutations in the same gene may cause widely different phenotypes,
as illustrated in glaucoma by FOXC1, MYOC, PAX6 and PITX2, the similarities be ...
Cited by 23 - Web Search - ijp-online.com - ijp-online.com - ncbi.nlm.nih.gov - all 5 versions »

Novel identification of a four-base-pair deletion mutation in PITX2 in a Rieger syndrome family. - Full text - MIT Libraries
Y Wang, H Zhao, X Zhang, H Feng - J Dent Res, 2003 - jdr.iadrjournals.org
... Rieger syndrome is one of the most serious causes of tooth agenesis. Mutations in
the PITX2, FOXC1, and PAX6 genes have been associated with Rieger syndrome. ...
Web Search - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Original Article Familial iridogoniodysgenesis and skeletal anomalies: a probable new autosomal … - Full text - MIT Libraries
LX Rodriguez-Rojas, D Garcia-Cruz, R Mendoza- … - Clinical Genetics, 2004 - blackwell-synergy.com
... and it has been suggested that forkhead transcription factor (FKHL7 or FOXC1), a
gene ... other candidate genes that remain to be cloned, such as PAX6 paired-class ...
Web Search - ingentaconnect.com - ncbi.nlm.nih.gov

A novel syndrome of congenital lid and punctal anomalies, corneal and chorioretinal dystrophy
TKM Lee, M Hebert, IM MacDonald - Ophthalmic Genetics, 2003 - ingentaconnect.com
... Direct sequencing of PAX6 and the DNA-binding domain of FOXC1 failed to detect
a mutation. Articles that cite this article? Language: Unknown. ...
Web Search - extenza-eps.com - ncbi.nlm.nih.gov - szp.swets.nl - all 6 versions » - Get it from MIT Libraries

Complex Genetics of Glaucoma Susceptibility - Full text - MIT Libraries
RT Libby, DB Gould, MG Anderson, SWM John - Annual Review of Genomics and Human Genetics, 2005 - arjournals.annualreviews.org
... with ASD mutations develop glaucoma (6). To date, most human ASD genes that associate
with glaucoma en- code transcription factors (eg, PAX6, FOXC1, PITX2). ...
Cited by 2 - Web Search - ncbi.nlm.nih.gov

The mouse anterior chamber angle and trabecular meshwork develop without cell death - Full text - MIT Libraries
R Smith, A Zabaleta, O Savinova, S John - BMC Developmental Biology, 2001 - biomedcentral.com
... For general anterior segment development, this is supported by the observations
that genetic deficiency of transcription factors such as PAX6, PITX2, FOXC1 [44 ...
Cited by 23 - Cached - Web Search - dx.doi.org - pubmedcentral.nih.gov - citebase.eprints.org - all 7 versions »

Axenfeld-Rieger malformation and distinctive facial features: Clues to a recognizable 6 p 25 … - Full text - MIT Libraries
K Maclean, J Smith, LS Heaps, N Chia, R Williams, … - American Journal of Medical Genetics Part A, 2005 - doi.wiley.com
... et al., 1996] and FOXC1 at 6p25 [Nishimura et al., 1998] have been proven to cause
the phenotype. There is one report of AR syndrome with a PAX6 deletion (11p13 ...
Web Search - ncbi.nlm.nih.gov

Chromosomal Abnormalities and Glaucoma: A Case of Congenital Glaucoma with Trisomy 8q22-Qter/ …
AC Cohn, LS Kearns, R Savarirayan, J Ryan, JE … - Ophthalmic Genetics, 2005 - taylorandfrancis.metapress.com
... and FOXC1, 23,24 were identified by mapping rearrangement breakpoints in glaucoma
patients, in addition to the PAX6 gene in aniridia which is also frequently ...
Web Search - ingentaconnect.com - ncbi.nlm.nih.gov - Get it from MIT Libraries

Anterior segment development relevant to glaucoma
DB Gould, RS Smith, SW John - Int. J. Dev. Biol, 2004 - ijdb.ehu.es
... Similar to PAX6, normal development is very sensitive to FOXC1 dosage and both
duplications or deletions can cause ASD (Kume et al., 1998, Lehmann et al., 2000 ...
Cited by 4 - View as HTML - Web Search - ncbi.nlm.nih.gov - Get it from MIT Libraries

Targeted disruption of the myocilin gene (Myoc) suggests that human glaucoma-causing mutations are … - Full text - MIT Libraries
BS Kim, OV Savinova, MV Reedy, J Martin, Y Lun, L … - Mol Cell Biol, 2001 - mcb.asm.org
... For example, LMX1B, FOXC1, PITX2, and PAX6 encode transcription factors necessary
for normal development of the eye and the anterior segment, and mutations in ...
Cited by 33 - Web Search - pubmedcentral.nih.gov - dx.doi.org - ncbi.nlm.nih.gov - all 5 versions »

A forkhead gene, FoxE3, is essential for lens epithelial proliferation and closure of the lens … - Full text - MIT Libraries
A Blixt, M Mahlapuu, M Aitola, M Pelto-Huikko, S … - Genes Dev, 2000 - genesdev.org
... Furuta and Hogan 1998 ) and heterozygous loss of function of PAX6 is responsible ...
Deletion of, or mutations in, the human forkhead gene FOXC1 (previously known ...
Cited by 35 - Web Search - genesdev.org - pubmedcentral.nih.gov - ncbi.nlm.nih.gov - all 6 versions »

FOXP2 in focus: what can genes tell us about speech and language - Full text - MIT Libraries
GF Marcus, SE Fisher - Trends Cogn. Sci, 2003 - ai.mit.edu
... Trends Genet. 15, 371–377 24 Simpson, TI and Price, DJ (2002) Pax6; a pleiotropic
player in development. ... (2001) A spectrum of FOXC1 mutations suggests gene ...
Cited by 16 - View as HTML - Web Search - cogpsy.skku.ac.kr - big.cs.uiuc.edu - library.ibp.ac.cn - all 10 versions »

Ophthalmic genetics/inherited eye disease.
TL Young - Current Opinion in Ophthalmology, 2003 - co-ophthalmology.com
... Nishimura DY, Searby CC, Alwards LM, et al.: A spectrum of FOXC1 mutations suggests ...
Baulmann D, Ohlman A, Flugel-Koch C, et al.: Pax6 heterozygous eyes show ...
Web Search - co-ophthalmology.com - ncbi.nlm.nih.gov - Get it from MIT Libraries

Anterior eye development and ocular mesenchyme: new insights from mouse models and human diseases - Full text - MIT Libraries
A Cvekl, ER Tamm - BioEssays, 2004 - doi.wiley.com
... a characteristic response to added TGF-b, which is not observed in cells from Foxc1
null mouse embryos. (31) Molecular mechanisms of Pax6 haploinsufficiency It ...
Cited by 3 - Web Search - biologie.uni-regensburg.de - ncbi.nlm.nih.gov

Genetic correlations among texture characteristics in the human iris. - Full text - MIT Libraries
M Larsson, NL Pedersen - Mol Vis, 2004 - molvis.org
... iris texture characteristics are different alleles of Pax6 and its downstream target
genes [3], COX-1, COX-2, VEGF, Ezrin, IR 185/OPTC, FKHL7/FOXC1, FOXC2, TIGR ...
Cached - Web Search - ncbi.nlm.nih.gov

Genetic Basis of Hypothalamic-Pituitary Hypogonadism
FP Pralong - content.karger.com
... Gene Anterior pituitary Human Mouse HESX-1 + + PROP-1/df + + FOXC1 + +
Pax6 – + Pitx1 – + POUF1/Pit1 + + LIF – + Egr1 – + ...
Web Search - content.karger.com

Haploinsufficiency of the transcription factors FOXC 1 and FOXC 2 results in aberrant ocular … - Full text - MIT Libraries
RS Smith, A Zabaleta, T Kume, OV Savinova, SH … - Human Molecular Genetics, 2000 - hmg.oupjournals.org
... genes including CYP1B1 (46), PITX2 (34), PITX3 (47), Lmx1b (37) and PAX6 (48) cause ...
by these genes overlap or interact with each other or with FOXC1- and FOXC2 ...
Cited by 62 - Web Search - hmg.oupjournals.org - ingentaconnect.com - ncbi.nlm.nih.gov - all 5 versions »

Functional interactions between alternatively spliced forms of Pax 6 in crystallin gene regulation … - Full text - MIT Libraries
BK Chauhan, Y Yang, K Cveklova, A Cvekl - Nucleic Acids Research, 2004 - pubmedcentral.nih.gov
... A significant proportion of genes encoding transcription factors (eg FOXC1, PAX2,
PAX3, PAX6, PITX2, PITX3, SIX6 and TBX1) are dosage-sensitive (3,32,53–56). ...
Cited by 2 - Web Search - nar.oxfordjournals.org - nar.oupjournals.org - ingentaconnect.com - all 7 versions »

Evolving eyes.
RD FERNALD - Int. J. Dev. Biol, 2004 - stanford.edu
... paired domain, eya-eyes absent, eyg-eye gone homeodomain, FOXC1-forkhead box ... domain,
OTX1-orthodenticle homologue 1, PAX2-paired box gene 2, pax6-paired domain ...
View as HTML - Web Search - ncbi.nlm.nih.gov - Get it from MIT Libraries

Inherited corneal disease: the evolving molecular, genetic and imaging revolution - Full text - MIT Libraries
ALV FRANZCO, DVPMA MRCOphth, CNJMGPD FRCOphth - Clinical & Experimental Ophthalmology, 2005 - blackwell-synergy.com
... An example is Peter's anomaly, with mutations demonstrated in the eye
development genes PAX6, 60 PITX2, 61 FOXC1, 62 and CYP1B1. ...
Web Search

Genetic Regulation of Branching Morphogenesis: Lessons Learned from Loss-of-Function Phenotypes
CTD BRANCHING - PEDIATRIC RESEARCH, 2003 - pedresearch.org
... Thus, PAX2 and EYA1 working in opposition to FOXC1 may control the number and ... The
spatial expression of Pax6 is restricted to mesenchyme during the early bud ...
Web Search - Get it from MIT Libraries

Molecular characterization of a familial translocation implicates disruption of HDAC9 and possible … - Full text - MIT Libraries
D David, J Cardoso, B Marques, R Marques, ED Silva … - Genomics, 2003 - insarj.pt
... Among these are null phenotypes for Pax6, Foxe3, and Pitx3, heterozygosity for Foxc1,
and reduced Pitx2 func- tion, and now, most interestingly, loss of Tgf 2. ...
Cited by 4 - View as HTML - Web Search - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov

Novel ENU-induced eye mutations in the mouse: models for human eye disease - Full text - MIT Libraries
C Thaung, K West, BJ Clark, L McKie, JE Morgan, K … - Human Molecular Genetics, 2002 - hmg.oupjournals.org
... one mutation of two such genes, Pax6 and Mitf, suggesting that the screen was effective.
However, we did not find mutations that map close to Foxc1, Foxc2 or ...
Cited by 19 - Web Search - hmg.oupjournals.org - ingentaconnect.com - ncbi.nlm.nih.gov - all 5 versions »

Status of the Human Malformation Map: 2002
JC CAREY, DH VISKOCHIL - American Journal of Medical Genetics (Semin. Med. Genet.), 2002 - doi.wiley.com
... Aniridia 106210 106210 11p13 PAX6 Paired box homeotic gene-6 ... Axenfeld anomaly
601090 601090 6p25 FOXC1 Forkhead, Drosophila, homolog-like 7 ...
Web Search - ncbi.nlm.nih.gov - Get it from MIT Libraries

A Molecular Perspective on Corneal Dystrophies
AL Vincent, D Rootman, FL Munier, E Heon - Dev Ophthalmol, 2003 - content.karger.com
... An example is Peters’ anomaly for which mutations are identified in the eye development
genes such as PAX6 [48], PITX2 [49], FOXC1 [50] and CYP1B1 [51]. ...
Web Search - content.karger.com - ncbi.nlm.nih.gov - ncbi.nlm.nih.gov - 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
... paired domain; eya, eyes absent; eyg, eye gone homeodomain; FOXC1, forkhead box ... OTX1,
orthodenticle homologue 1; PAX2, paired box gene 2; pax6, paired domain ...
Web Search - dx.doi.org - content.karger.com - karger.com

Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX 3 gene - Full text - MIT Libraries
PKF Addison, V Berry, ACW Ionides, PJ Francis, SS … - British Journal of Ophthalmology, 2005 - bjophthalmol.com
... Missense mutations in the most ancient residues of the PAX6 paired domain ...
Haploinsufficiency of the transcription factors FOXC1 and FOXC2 results in aberrant ...
Cached - Web Search - bjo.bmjjournals.com - dx.doi.org - jmedgenet.com - all 9 versions »