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Literature DB >> 9345106

Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan.

Y Suzuki, S Shirato, F Taniguchi, K Ohara, K Nishimaki, S Ohta.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 1997 PMID： 9345106 PMCID： PMC1716051 DOI： 10.1086/301612

Source DB: PubMed Journal: Am J Hum Genet ISSN： 0002-9297 Impact factor: 11.025

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5 in total

Review 1. Number of people with glaucoma worldwide.

Authors: H A Quigley
Journal: Br J Ophthalmol Date: 1996-05 Impact factor: 4.638

Review 2. Molecular genetics of the glaucomas: mapping of the first five "GLC" loci.

Authors: V Raymond
Journal: Am J Hum Genet Date: 1997-02 Impact factor: 11.025

3. Cellular pharmacology and molecular biology of the trabecular meshwork inducible glucocorticoid response gene product.

Authors: J R Polansky; D J Fauss; P Chen; H Chen; E Lütjen-Drecoll; D Johnson; R M Kurtz; Z D Ma; E Bloom; T D Nguyen
Journal: Ophthalmologica Date: 1997 Impact factor: 3.250

4. A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping.

Authors: R Kubota; S Noda; Y Wang; S Minoshima; S Asakawa; J Kudoh; Y Mashima; Y Oguchi; N Shimizu
Journal: Genomics Date: 1997-05-01 Impact factor: 5.736

5. Identification of a gene that causes primary open angle glaucoma.

Authors: E M Stone; J H Fingert; W L Alward; T D Nguyen; J R Polansky; S L Sunden; D Nishimura; A F Clark; A Nystuen; B E Nichols; D A Mackey; R Ritch; J W Kalenak; E R Craven; V C Sheffield
Journal: Science Date: 1997-01-31 Impact factor: 47.728

5 in total

24 in total

1. Inherited, familial and sporadic primary open-angle glaucoma.

Authors: Gordon Gong; Sade Kosoko-Lasaki; Gleb Haynatzki; Henry T Lynch; Jane A Lynch; M Roy Wilson
Journal: J Natl Med Assoc Date: 2007-05 Impact factor: 1.798

Review 2. Glaucoma genetics.

Authors: Pratap Challa
Journal: Int Ophthalmol Clin Date: 2008

Review 3. Genetics of primary open angle glaucoma.

Authors: Mitsuko Takamoto; Makoto Araie
Journal: Jpn J Ophthalmol Date: 2013-11-21 Impact factor: 2.447

4. Rapid mutation detection by the transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma.

Authors: C J Cobb; G Scott; R J Swingler; S Wilson; J Ellis; C J MacEwen; W H I McLean
Journal: Br J Ophthalmol Date: 2002-02 Impact factor: 4.638

Mutations in the TIGR gene in familial primary open-angle glaucoma in Japan.

Review 1. Number of people with glaucoma worldwide.

Review 2. Molecular genetics of the glaucomas: mapping of the first five "GLC" loci.

3. Cellular pharmacology and molecular biology of the trabecular meshwork inducible glucocorticoid response gene product.

4. A novel myosin-like protein (myocilin) expressed in the connecting cilium of the photoreceptor: molecular cloning, tissue expression, and chromosomal mapping.

5. Identification of a gene that causes primary open angle glaucoma.

1. Inherited, familial and sporadic primary open-angle glaucoma.

Review 2. Glaucoma genetics.

Review 3. Genetics of primary open angle glaucoma.

4. Rapid mutation detection by the transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma.

5. Targeted Disruption of the Myocilin Gene (Myoc) Suggests that Human Glaucoma-Causing Mutations Are Gain of Function.

6. Low prevalence of MYOC mutations in UK primary open-angle glaucoma patients limits the utility of genetic testing.

7. Sequence analysis of MYOC and CYP1B1 in a Chinese pedigree of juvenile glaucoma with goniodysgenesis.

8. Clinical features associated with an Asp380His Myocilin mutation in a US family with primary open-angle glaucoma.

9. Pharmacogenetics of ophthalmic topical beta-blockers.

10. New mutation in the MYOC gene and its association with primary open-angle glaucoma in a Chinese family.