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7 Sarfarazi M, Child A, Stoilova D, Brice G, Desai T, Trifan OC, et al.: Localization of the fourth locus (GLC1E) for adult onset primary open angle glaucoma to the 10p15-p14 Region. Am J Hum Genet 1998, 62:641-652. Classic linkage study in a single large British pedigree with strong support for linkage (lod score 10). Phenotype resembles NTG; therefore the gene residing at this locus should ultimately provide important insight into factors mediating visual field loss in POAG.
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Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21
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10 Stoilov I, Akarsu AN, Sarfarazi M: Identification of three different truncating mutations in cytochrome P4501B1 (CYP1B1) as the principal cause of primary congenital glaucoma (buphthalmos) in families linked to the GLC3A locus on chromosome 2p21. Hum Mol Genet 1997, 6:641-647. First description of mutations in the CYP1B1 gene underlying PCG. Functional studies of the mechanism by which cytochrome P4501B1 causes glaucoma will be of interest.
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11 Bejjani BA, Lewis RA, Tomey KF, Anderson KL, Dueker DK, Jabak M, et al.: Mutations in CYP1B1, the gene for cytochrome P4501B1, are the predominant cause of primary congenital glaucoma in Saudi Arabia. Am J Hum Genet 1998, 62:325-333. Confirmed the importance of CYP1B1 in PCG in a second population. Interesting observations of variable expressivity of this phenotype in homozygotes. A small number of mutations accounted for all except one family studied, thus indicating potential benefit for screening in this population.
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12 Akarsu AN, Turacli ME, Aktan SG, Barsoum-Homsy M, Chevrette L, Sayli BS, Sarfarazi M. A second locus (GLC3B) for primary congenital glaucoma (buphthalmos) maps to the 1p36 region. Hum Mol Genet 1996,5:1199-1203.
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16 Alward WLM, Semina EV, Kalenak JW, Heon E, Sheth BP, Stone EM, Murray JC: Autosomal dominant iris hypoplasia is caused by a mutation in the Rieger syndrome (RIEG/PITX2) gene. Am J Ophthalmol 1998, 125:98-100. Indicated that a PITX2 mutation causes dominantly inherited iris hypoplasia without other ocular or systemic features of Rieger syndrome.
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A second locus for Rieger syndrome maps to chromosome 13q14
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21 Mirzayans F, Mears AJ, Guo SW, Pearce WG, Walter MA: Identification of the human chromosomal region containing the iridogoniodysgenesis anomaly locus by genomic-mismatch scanning. Am J Hum Genet 1997, 61:111-119. Describes use of an alternative to classic linkage studies to rapidly suggest linkage of this phenotype to 6p25. This methodology may prove useful for localization of further glaucoma genes.
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30 Polansky JR, Nguyen TD: The TIGR gene, pathogenic mechanisms, and other recent advances in glaucoma genetics. Curr Opin Ophthalmol 1998, 9:15-23. Review of TIGR gene properties and putative role in HTM. Models are proposed for involvement in outflow obstruction and glaucoma.
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Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma
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Richards, J.E.1
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39
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A novel Asp380Ala mutation in the GLC1 A/myocilin gene in a family with juvenile onset primary open angle glaucoma
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39 Kennan AM, Mansergh FC, Fingert JH, Clark T, Ayuso C, Kenna PF, et al.: A novel Asp380Ala mutation in the GLC1 A/myocilin gene in a family with juvenile onset primary open angle glaucoma. J Med Genet 1998, 35:957-960.
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Kennan, A.M.1
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Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma
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40 Allingham RR, Wiggs JL, De la Paz MA, Vollrath D, Tallett DA, Broomer B, et al.: Gln368STOP myocilin mutation in families with late-onset primary open-angle glaucoma. Invest Ophthalmol Vis Scsi 1998, 39:2288-2295. The Gln368STOP myocilin mutation was found in three of 29 familial adult-on-set POAG pedigrees, thus confirming the importance of this mutation in North America.
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Invest Ophthalmol Vis Scsi
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Allingham, R.R.1
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Prevalence of mutations in TIGR/myocilin in patients with adult and juvenile primary open-angle glaucoma
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41 Wiggs JL, Allingham RR, Vollrath D, Jones KH, De la Paz M, Kern J, et al.: Prevalence of mutations in TIGR/myocilin in patients with adult and juvenile primary open-angle glaucoma. Am J Hum Genet 1998, 63:1549-1552. GLC1A mutations were found in two of 25 small JOAG pedigrees (compared with five of eight French JOAG pedigrees reported by Adam et al., Hum Mol Genet 1997, 6:2091-2097), and five of 127 adult-onset POAG pedigrees. Suggests JOAG is genetically heterogeneous.
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Am J Hum Genet
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Important phenotypic variability of the Lys423Glu mutation in the TIGR gene within a huge GLC1A-linked glaucoma family
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42 Dubois S, Morissette J, Winstall E, Hladky E, Falardeau P, Bergeron J, et al.: Important phenotypic variability of the Lys423Glu mutation in the TIGR gene within a huge GLC1A-linked glaucoma family [abstract]. Am J Soc Hum Genet 1997, 61:A331.
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Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome 1q (GLC1A) in a French family
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43 Meyer A, Bechetoille A, Valtot F, Dupont de Dinechin S, Adam MF, Belmouden A, et al.: Age-dependent penetrance and mapping of the locus for juvenile and early-onset open-angle glaucoma on chromosome 1q (GLC1A) in a French family. Hum Genet 1996, 98:567-571.
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Founder effect in GLC1A-linked familial open-angle glaucoma in Northern France
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44 Brezin AP, Adam MF, Belmouden A, Lureau MA, Chaventre A, Copin B, et al.: Founder effect in GLC1A-linked familial open-angle glaucoma in Northern France. Am J Med Genet 1998, 76:438-445. Six families found to be part of one very large founded pedigree with the N480K myocilin mutation. Total of 72 affected individuals with wide range of severity. Study will prove useful for unravelling other genetic and environmental factors involved in GLC1A glaucoma severity.
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Am J Med Genet
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45
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Juvenile open angle glaucoma: Fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis
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45 Michels-Rautenstrauss K, Mardin CY, Budde WM, Liehr T, Polansky JR, Nguyen TD, et al.: Juvenile open angle glaucoma: fine mapping of the TIGR gene to 1q24.3-q25.2 and mutation analysis. Hum Genet 1998, 102:103-106.
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Hum Genet
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Michels-Rautenstrauss, K.1
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Nguyen, T.D.6
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46
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Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells
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46 Nguyen TD, Chen P, Huang WD, Chen H, Johnson D, Polansky JR: Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells. J Biol Chem 1998, 273:6341-6350. Sequence data presented including 5 kb upstream of gene. Induction profiles in HTM and organ culture eyes. Authors propose that extracellular production of TIGR plays a role in outflow facility, but they cannot exclude intracellular roles also.
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J Biol Chem
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Nguyen, T.D.1
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47
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Localization of the stress proteins B-crystallin and trabecular meshwork inducible glucocorticoid response protein in normal and glaucomatous trabecular meshwork
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47 Lutjen-Drecoll E, May CA, Polansky JR, Johnson DH, Bloemendal H, Nguyen TD: Localization of the stress proteins B-crystallin and trabecular meshwork inducible glucocorticoid response protein in normal and glaucomatous trabecular meshwork. Invest Ophthalmol Vis Sci 1998, 39:517-525. This study indicated wider distribution and more intense staining of TIGR protein in the trabecular meshwork of glaucomatous eyes as compared with nonglaucomatous eyes. Subjects with POAG, pseudoexfoliation syndrome, NTG, and age-matched normal controls were examined. May indicate a role for TIGR in glaucoma cases not due to GLC1 mutation.
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Invest Ophthalmol Vis Sci
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Lutjen-Drecoll, E.1
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48
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Tonography in a primary open angle glaucoma (POAG) pedigree linking to GLC1A
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48 Wilkinson CH, Wong TL, Devereux C, Storey I, McCartney PJ, Cooper RL, et al.: Tonography in a primary open angle glaucoma (POAG) pedigree linking to GLC1A [abstract]. Invest Ophthalmol Vis Sci 1998, 38:S1055. This study in a single large pedigree with Thr377Met mutation with age of onset in the fourth decade of life indicates that outflow facility is reduced in mutation carriers and that this predates the onset of ocular hypertension, disk lesions, and glaucomatous field loss.
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Invest Ophthalmol Vis Sci
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Wilkinson, C.H.1
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49
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Characterization and comparison of the human and mouse GLC1A glaucoma genes
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49 Fingert JH, Ying L, Swiderski RE, Nystuen AM, Arbour NC, Alward WL, et al.: Characterization and comparison of the human and mouse GLC1A glaucoma genes. Genome Res 1998, 8:377-384. Indicates 82% homology between sequence of human and mouse GLC1A genes. Thorough data on expression profiles indicating more widespread extraocular expression than previously known.
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Genome Res
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Fingert, J.H.1
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50
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0032515345
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Genomic organization of the human myocilin gene (MYOC) responsible for primary open angle glaucoma (GLC1A)
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50 Kubota R, Kudoh J, Mashima Y, Asakawa S, Minoshima S, Hejtmancik JF, et al.: Genomic organization of the human myocilin gene (MYOC) responsible for primary open angle glaucoma (GLC1A). Biochem Biophys Res Commun 1998, 242:396-400. In addition to genomic sequence and organization data, MYOC mutations were excluded in 12 Usher syndrome type I patients. Expression of MYOC was shown in retina and ciliated cells of cochlea, making it a candidate for this condition.
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Biochem Biophys Res Commun
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52
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Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma
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52 Morissette J, Clepet C, Moisan S, DuBois S, Winstall E, Vermeeren D, et al.: Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma [letter]. Nat Genet 1998, 19:319-321. Interesting study of large pedigree with K423E mutation in which a consanguineous union between two affected heterozygotes produced four as yet unaffected homozygotes. Shows value of natural mutations for future insight into pos-sible binding activities of the protein.
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Nat Genet
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Morissette, J.1
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53
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53 Adderrahim H, Jaramillo-Babb VL, Zhou Z, Vollrath D: Characterization of the murine TIGR/myocilin gene. Mamm Genome 1998, 9:673-675.
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Cosegregation of open-angle glaucoma and the nail-patella syndrome
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54 Lichter PR, Richards JE, Downs CA, Stringham HM, Boehnke M, Farley FA: Cosegregation of open-angle glaucoma and the nail-patella syndrome. Am J Ophthalmol 1997, 124:506-515. Association of nail-patella syndrome and open-angle glaucoma pedigrees ascertained originally for familial POAG.
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Lichter, P.R.1
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55
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Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome
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55 Vollrath D, Jaramillo-Babb VL, Clough MV, McIntosh I, Scott KM, Lichter PR, Richards JE: Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail-patella syndrome. Hum Mol Genet 1998, 7:1091-1098. Mutations are described in four families with nail-patella syndrome and open-angle glaucoma, suggesting that loss-of-function mutations in this gene may be responsible for both nail-patella syndrome and the glaucoma.
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Hum Mol Genet
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Vollrath, D.1
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56
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A gene responsible for the pigment dispersion syndrome maps to chromosome 7q35-q36
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56 Andersen JS, Pralea AM, DelBono EA, Haines JL, Gorin MB, Schuman JS, et al.: A gene responsible for the pigment dispersion syndrome maps to chromosome 7q35-q36. Arch Ophthalmol 1997, 115:384-388.
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57 Andersen JS, Parrish R, Greenfield D, Del Bono EA, Haines JL, Wiggs JL: A second locus for the pigment dispersion syndrome and pigmentary glaucoma [abstract]. Am J Hum Genet 1998, 63:A279.
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Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence for genetic heterogeneity
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58 Sarfarazi M, Akarsu AN, Hossain A, Turacli ME, Aktan SG, Barsoum-Homsy M, et al.: Assignment of a locus (GLC3A) for primary congenital glaucoma (buphthalmos) to 2p21 and evidence for genetic heterogeneity. Genomics 1995, 30:171-177.
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59
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Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1
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59 Stoilov I, Akarsu AN, Alozie I, Child A, Barsoum-Homsy M, Turacli ME, et al.: Sequence analysis and homology modeling suggest that primary congenital glaucoma on 2p21 results from mutations disrupting either the hinge region or the conserved core structures of cytochrome P4501B1. Am J Hum Genet 1998, 62:573-584. Sixteen mutations found in 22 families from Turkey, the United States, Canada, and the United Kingdom. Expression data are presented confirming expression in the anterior uveal tract as well as in many extraocular tissues. The authors speculate about possible roles for this gene in PCG.
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Am J Hum Genet
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Stoilov, I.1
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Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4
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60 Murray JC, Bennett SR, Kwitek AE, Small KW, Schinzel A, Alward WL, et al.: Linkage of Rieger syndrome to the region of the epidermal growth factor gene on chromosome 4. Nat Genet 1992, 2:46-49.
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The molecular basis of Rieger syndrome: Analysis of Pitx2 homeodomain protein activities
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61 Amendt BA, Sutherland LB, Semina EV, Russo AF: The molecular basis of Rieger syndrome: analysis of Pitx2 homeodomain protein activities. J Biol Chem 1998, 273:20066-20072. Indicates that PITX2 DNA binding capabilities are modulated by another protein of a similar class (Pit-1). Also showed failure of mutant PITX2 to transactivate reporter genes, thus providing supportive evidence for the molecular basis of Rieger syndrome.
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J Biol Chem
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Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene
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62 Flomen RH, Vatcheva R, Gorman PA, Baptista PR, Groet J, Barisic I, et al.: Construction and analysis of a sequence-ready map in 4q25: Rieger syndrome can be caused by haploinsufficiency of RIEG, but also by chromosome breaks approximately 90 kb upstream of this gene. Genomics 1998, 47:409-413. Study of two naturally occurring mutations implying that haploinsufficiency of PITX2 may cause Rieger syndrome. The rearrangement with an intact RIEG1 is of interest as it is reminiscent of the findings of Nishimura et al. (Nat Genet 1998, 19:140-147).
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Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12)
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63 Larsson C, Hellqvist M, Pierrou S, White I, Enerback S, Carlsson P: Chromosomal localization of six human forkhead genes, freac-1 (FKHL5), -3 (FKHL7), -4 (FKHL8), -5 (FKHL9), -6 (FKHL10), and -8 (FKHL12). Genomics 1995, 30:464-469.
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Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly
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64 Mears AJ, Jordan T, Mirzayans F, DuBois S, Kume T, Parlee M, et al.: Mutations of the forkhead/winged-helix gene, FKHL7, in patients with Axenfeld-Rieger anomaly. Am J Hum Genet 1998, 63:1316-1328. Thorough analysis of FKHL7 sequence in families known to link to IRID1 at 6p25 and in 16 sporadic patients with anterior segment abnormalities. Three mutations were found, thus suggesting genetic heterogeneity at the IRID1 locus. Expression studies are also presented.
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Am J Hum Genet
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65 Kume T, Deng KY, Winfrey V, Gould DB, Walter MA, Hogan BL: The forkhead/winged helix gene Mf1 is disrupted in the pleiotropic mouse mutation congenital hydrocephalus. Cell 1998, 93:985-996. Ocular findings in homozygous Mf1 -knockout mice (FKHL7 is the human homologue) include iris hypoplasia. This supports the causative association between FKHL7 mutations and anterior segment dysgenesis in humans.
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Cell
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Predictive DNA testing for glaucoma with the GLC1A gene: Experience with a large Australian family
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66 Mackey DA, Craig JE, McNaught AI, Wilkinson CH, Healey DL, Rait JL, et al.: Predictive DNA testing for glaucoma with the GLC1A gene: experience with a large Australian family [abstract]. Invest Ophthalmol Vis Sci 1998, 39:S31.
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Invest Ophthalmol Vis Sci
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Introduction of DNA into the rat and primate trabecular meshwork by fusogenic liposomes
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67 Hangai M, Tanihara H, Honda Y, Kaneda Y: Introduction of DNA into the rat and primate trabecular meshwork by fusogenic liposomes. Invest Ophthalmol Vis Sci 1998, 39:509-516.
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