Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Weitwinkelglaukom 1A

Das Weitwinkelglaukom 1A ist eine autosomal dominante Erkrankung, die durch Mutationen im MYOC-Gen ausgelöst wird.

Gliederung

Weitwinkelglaukom 1
Weitwinkelglaukom 1A
MYOC
Weitwinkelglaukom 1B
Weitwinkelglaukom 1C
Weitwinkelglaukom 1D
Weitwinkelglaukom 1E
Weitwinkelglaukom 1F
Weitwinkelglaukom 1G
Weitwinkelglaukom 1H
Weitwinkelglaukom 1I
Weitwinkelglaukom 1J
Weitwinkelglaukom 1K
Weitwinkelglaukom 1L
Weitwinkelglaukom 1M
Weitwinkelglaukom 1N
Weitwinkelglaukom 1O
Weitwinkelglaukom 1P

Referenzen:

1.

Zillig M et al. (2005) Overexpression and properties of wild-type and Tyr437His mutated myocilin in the eyes of transgenic mice.

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2.

Yoon SJ et al. (1999) Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea.

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3.

Craig JE et al. (2001) Evidence for genetic heterogeneity within eight glaucoma families, with the GLC1A Gln368STOP mutation being an important phenotypic modifier.

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4.

Wiggs JL et al. (2001) Molecular and clinical evaluation of a patient hemizygous for TIGR/MYOC.

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5.

CROMBIE AL et al. (1964) HEREDITARY GLAUCOMA OCCURRENCE IN FIVE GENERATIONS OF AN EDINBURGH FAMILY.

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6.

None (1965) THE INHERITANCE OF GLAUCOMA. A PEDIGREE OF FAMILIAL GLAUCOMA.

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7.

Sripriya S et al. (2004) Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients.

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8.

Wiggs JL et al. (2004) A genomewide scan identifies novel early-onset primary open-angle glaucoma loci on 9q22 and 20p12.

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9.

Gould DB et al. (2004) Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma.

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10.

Vincent AL et al. (2002) Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.

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11.

Baird PN et al. (2005) Evidence for a novel glaucoma locus at chromosome 3p21-22.

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12.

Gould DB et al. (2006) Mutant myocilin nonsecretion in vivo is not sufficient to cause glaucoma.

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13.

Hewitt AW et al. (2007) The optic nerve head in myocilin glaucoma.

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14.

Shepard AR et al. (2007) Glaucoma-causing myocilin mutants require the Peroxisomal targeting signal-1 receptor (PTS1R) to elevate intraocular pressure.

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15.

Wirtz MK et al. (2007) Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma.

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16.

Bhattacharjee A et al. (2007) Myocilin variants in Indian patients with open-angle glaucoma.

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17.

Kwon YH et al. (2009) Primary open-angle glaucoma.

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18.

Brézin AP et al. (1997) Genetic heterogeneity of primary open angle glaucoma and ocular hypertension: linkage to GLC1A associated with an increased risk of severe glaucomatous optic neuropathy.

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19.

Alward WL et al. (1998) Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

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20.

Lotufo D et al. (1989) Juvenile glaucoma, race, and refraction.

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21.

Graff C et al. (1995) Confirmation of linkage to 1q21-31 in a Danish autosomal dominant juvenile-onset glaucoma family and evidence of genetic heterogeneity.

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22.

Morissette J et al. (1995) A common gene for juvenile and adult-onset primary open-angle glaucomas confined on chromosome 1q.

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23.

Wiggs JL et al. (1994) Genetic linkage of autosomal dominant juvenile glaucoma to 1q21-q31 in three affected pedigrees.

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24.

Richards JE et al. (1994) Mapping of a gene for autosomal dominant juvenile-onset open-angle glaucoma to chromosome Iq.

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25.

Johnson AT et al. (1993) Clinical features and linkage analysis of a family with autosomal dominant juvenile glaucoma.

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26.

Sheffield VC et al. (1993) Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31.

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27.

Wiggs JL et al. (1996) The distinction between juvenile and adult-onset primary open-angle glaucoma.

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28.

Johnson AT et al. (1996) Clinical phenotype of juvenile-onset primary open-angle glaucoma linked to chromosome 1q.

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29.

Richards JE et al. (1996) Probable exclusion of GLC1A as a candidate glaucoma gene in a family with middle-age-onset primary open-angle glaucoma.

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30.

None (1996) Number of people with glaucoma worldwide.

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31.

Stone EM et al. (1997) Identification of a gene that causes primary open angle glaucoma.

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32.

Wiggs JL et al. (1995) Clinical features of five pedigrees genetically linked to the juvenile glaucoma locus on chromosome 1q21-q31.

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33.

Belmouden A et al. (1997) Recombinational and physical mapping of the locus for primary open-angle glaucoma (GLC1A) on chromosome 1q23-q25.

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34.

None (1998) The search for glaucoma genes--implications for pathogenesis and disease detection.

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35.

OMIM.ORG article

Omim 137750 external link
Update: 14. August 2020
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