REFERENCES:
Akula, M., Park, J.W., West-Mays,
J.A. (2019). Relationship between neural crest cell specification and
rare ocular diseases. J. Neurosci. Res., 97(1), 7-15.
Aldinger, K.A., Lehmann, O.J., Hudgins, L.(2009).FOXC1 is required for
normal cerebellar development and is a major contributor to chromosome
6q25.3Dandy-Walker malformation. Nat Genet,41 (9) : 1037-1042.
Berry, F.B., Saleem, R.A.,Walter, M.A.(2007).FOXC1 tanscriptional
regulation is mediated by N -and C-terminal activationdomains and
contains a phyophorylated transcriptional inhibitory domain. Biol
Chem,277( 12) : 10292-10297.
Chrystal, P.W.,Walter, M.A.(2019).Aniridia and Axenfeld-Rieger Syndrome:
Clinical presentations, molecular genetics and current/emerging
therapies.Exp. Eye Res., 189: 107815.
Chanda, B.,Asai-Coakwell, M.,Ye, M.,Mungall, A.J., Barrow, M., Dobyns,
W.B.,…Lehmann, O.J.(2008).A novel mechanistic spectrum underlies
glaucoma-associated chromosome 6p25 copy number variation. Hum Mol
Genet,17(22): 3446-3458.
Deml, B., Reis, L.M., Maheshwari, M., Griffis, C., Bick, D., & Semina,
E.V. .(2014). Whole exome analysis identifies
dominant\\r,
col4a1\\r, mutations in patients with
complex ocular phenotypes involving microphthalmia.Clinical Genetics,
86(5), 475-481.
D’Haene, B.,Meire, F., Claerhout,
I., Kroes, H. Y., Plomp, A., Arens , Y.H.,…De Baere ,
E.(2011).Expanding the Spectrum of FOXC1 and PITX2 Mutations and Copy
Number Changes in Patients with Anterior Segment Malformations.
Investigative Ophthalmology & Visual Science 52: 324‐333.
Descipio, C.,Schneider, L., Young, T. L.,
Wasserman,
N., Yaeger,
D., Lu,
F.,…
Krantz,
I.D.(2005).Subtelomeric deletions of chromosome 6p: molecular and
cytogenetic characterization of three new cases with phenotypic overlap
with Ritscher-Schinzel (3C) syndrome. Am J Med Genet A, 134A(1): 3-11.
Gauthier, A.C.,Wiggs
J.L.(2020).Childhood glaucoma genes and phenotypes: Focus on FOXC1
mutations causing anterior segment dysgenesis and hearing loss.Exp. Eye
Res., 190: 107893.
Gokce, G. , Oren, N. C. , &
Ozgonul, C.(2015). Axenfeld-rieger syndrome associated with severe
maxillofacial and skeletal anomalies. Journal of Oral & Maxillofacial
Pathology, 19(1), 109.
Golson, M.L., Kaestner, K.H.(2016). Fox transcription factors: From
development to disease[J]. Development,143(24):4558-4570.
Ito, Y. A., Walter, M.A.(2014).Genomics and anterior segment dysgenesis:
a review.Clinical & Experimental Ophthalmology, 42(1):13-24.
Lehmann, O.J., Sowden, J.C., Carlsson, P., Jordan, T., Bhattacharya,
S.S.(2003). Fox’s in development and disease.Trends in Genetics, 19(6),
339-344.
Le, Caignec.C.,De, Mas.P.,Vincent, M.C.,Bocéno, M.,,Bourrouillou,
G., Rival,
J.M., David,
A.(2005).Subtelomeric 6p deletion: clinical, FISH, and array CGH
characterization of two cases. Am J Med Genet A,132A(2): 175-180.
Lehmann, O.J., Ebenezer, N.D., Jordan, T., Fox, M., Ocaka, L., Payne,
A.,…Bhattacharya, S.S.(2000). Chromosomal duplication involving
the forkhead transcription factor gene FOXC1 causes iris hypoplasia and
glaucoma. Am J Hum Genet, 67(5): 1129-1135.
Lehmann, O. J., Ebenezer,N. D., Ekong,R., Ocaka, L., Mungall, A.J.,
Fraser, S.,…Jordan, T.(2002).Ocular developmental abnormalities
and glaucoma associated with interstitial 6p25 duplications and
deletions. Invest Ophthalmol Vis Sci, 43(6): 1843-1849.
Motojima, M., Kume, T., Matsusaka,
T.(2017).Foxc1 and Foxc2 are necessary to maintain glomerular podocytes.
Experimental Cell Research,352(2):265-272.
Motojima, M., Tanimoto, S., Ohtsuka, M., Matsusaka,T., Kume, T., Abe,
K.(2016). Characterization of Kidney and Skeleton Phenotypes of Mice
Double Heterozygous for Foxc1 and Foxc2. Cells Tissues Organs (Print),
201(5), 380-9.
Nishimura, D.Y.,Swiderski, R.E.,Alward, W.L.
Searby,
C.C., Patil,
S.R., Bennet,
S.R.,…Sheffield,
V.C. (1998).The forkhead transcription factor gene FKHL7 is responsible
for glaucoma phenotypes which map to 6p25.Nat Genet, 19(2): 140-147.
Nishimura, D.Y.,Searby, C.C.,Alward, W.L., Walton, D., Craig , J.E.,
Mackey , D.A.,…Sheffield , V.C.et al.(2001). A spectrum of FOXC1
mutations suggests gene dosage as a mechanism for developmental defects
of the anterior chamber of the eye.Am J Hum Genet,68( 2) : 364-372.
Reis, L.M., Tyler, R.C., Volkmann Kloss, B. A. ,Schilter, K.F.,Levin,
A.V.,Lowry, R. B., …Semina, E.V.(2012).Pitx2 and foxc1 spectrum
of mutations in ocular syndromes. European Journal of Human
Genetics, 20(12), 1224-1233.
Sauer, A.,Speeg-Schatz, C.(2012).[Axenfeld-Rieger syndrome].Journal
Francais Dophtalmologie,35(5):392.
Seifi, M.,Walter,
M.A.(2018).Axenfeld-Rieger syndrome.Clin. Genet., 93(6): 1123-1130.
Seifi, M.,Walter, M.A.(2018). Accurate prediction of functional,
structural, and stability changes in PITX2 mutations using in silico
bioinformatics algorithms. PLoS ONE, 13(4), e0195971.
Saleem, R.A., Banerjee-Basu, S., Murphy, T.C., Baxevanis, A., & Walter,
M. A.(2004). Essential structural and functional determinants within the
forkhead domain of FOXC1.Nucleic Acids Research,32(14): 4182-93.
Seo, S., Chen, L.S., Liu, W,Z., Zhao, D.M., Schultz, K.M., Sasman, A.,
…Kume , T.(2017). Foxc1 and Foxc2 in the Neural Crest Are
Required for Ocular Anterior Segment Development. Invest. Ophthalmol.
Vis. Sci., 58(3), 1368-1377.
Strungaru, M.H., Dinu, I., Walter, M.A.(2007).Genotype-Phenotype
Correlations in Axenfeld-Rieger Malformation and Glaucoma Patients with
FOXC1 and PITX2 Mutations. Investigative Ophthalmology & Visual
Science,48(1):228-237.
Souzeau, E., Siggs, O.M., Zhou, T., Galanopoulos, A., Hodson, T.,
Taranath, D.,…Craig, J.E.(2017). Glaucoma spectrum and
age-related prevalence of individuals with FOXC1 and PITX2 variants.
Eur. J. Hum. Genet., 25(11), 1290.
Vande, P.P., Zazo, S.C., Patat, O., Bouneau, L., Vigouroux, A.,
Bourgeois, D., …Calvas, P.(2018). 4q25 microdeletion encompassing
PITX2: A patient presenting with tetralogy of Fallot and dental
anomalies without ocular features. Eur J Med Genet, 61(2), 72-78.
Zeynep, T., Daniella, B.(2009). Axenfeld-rieger syndrome and spectrum of
pitx2 and foxc1 mutations.European Journal of Human Genetics
Ejhg, 17(12), 1527-1539.