Recent advances in molecular genetics of glaucoma. (Q35584898)

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21 December 2019

review article

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title

Recent advances in molecular genetics of glaucoma (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:14619973%20AND%20SRC:MED&resulttype=core&format=json

21 December 2019

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21 December 2019

Arijit Mukhopadhyay

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21 December 2019

Moulinath Acharya

series ordinal

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21 December 2019

publication date

1 November 2003

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Molecular and Cellular Biochemistry

21 December 2019

published in

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21 December 2019

volume

253

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21 December 2019

issue

1-2

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21 December 2019

page(s)

223-231

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Promoter mutations of myocilin gene in Japanese patients with open angle glaucoma including normal tension glaucoma

21 December 2019

cites work

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12 December 2020

Recent advances in molecular genetics of glaucomas

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12 December 2020

Primary infantile glaucoma (congenital glaucoma)

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12 December 2020

Founder effect in GLC1A-linked familial open-angle glaucoma in Northern France.

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12 December 2020

Mutations in MYOC gene of Indian primary open angle glaucoma patients.

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12 December 2020

Association of a single nucleotide polymorphism in the TIGR/MYOCILIN gene promoter with the severity of primary open-angle glaucoma.

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12 December 2020

A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.

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12 December 2020

Myocilin mutation 1109 C>T (Pro 370 Leu) is the most common gene defect causing early onset primary open angle glaucoma

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12 December 2020

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

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12 December 2020

GLC1F, a new primary open-angle glaucoma locus, maps to 7q35-q36

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12 December 2020

Molecular genetics of primary congenital glaucoma in Brazil

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12 December 2020

Autosomal dominant nanophthalmos (NNO1) with high hyperopia and angle-closure glaucoma maps to chromosome 11

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12 December 2020

A third locus (GLC1D) for adult-onset primary open-angle glaucoma maps to the 8q23 region

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12 December 2020

Multiple CYP1B1 mutations and incomplete penetrance in an inbred population segregating primary congenital glaucoma suggest frequent de novo events and a dominant modifier locus.

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12 December 2020

A cellular assay distinguishes normal and mutant TIGR/myocilin protein

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12 December 2020

Dominant and digenic mutations in the peripherin/RDS and ROM1 genes in retinitis pigmentosa

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12 December 2020

Linkage of autosomal dominant iris hypoplasia to the region of the Rieger syndrome locus (4q25)

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12 December 2020

Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene

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12 December 2020

Apolipoprotein E-promoter single-nucleotide polymorphisms affect the phenotype of primary open-angle glaucoma and demonstrate interaction with the myocilin gene

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12 December 2020

Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma

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12 December 2020

Chromosomal duplication involving the forkhead transcription factor gene FOXC1 causes iris hypoplasia and glaucoma

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12 December 2020

Adult-onset primary open-angle glaucoma caused by mutations in optineurin

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12 December 2020

Metabolic interference and the + - heterozygote. a hypothetical form of simple inheritance which is neither dominant nor recessive

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12 December 2020

Therapeutical and genetical aspects of congenital glaucomas

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12 December 2020

Identification of a gene that causes primary open angle glaucoma.

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12 December 2020

The secreted glycoprotein Noelin-1 promotes neurogenesis in Xenopus

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12 December 2020

Interaction of an Adenovirus E3 14.7-Kilodalton Protein with a Novel Tumor Necrosis Factor Alpha-Inducible Cellular Protein Containing Leucine Zipper Domains

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12 December 2020

Did myocilin evolve from two different primordial proteins?

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12 December 2020

Mapping a gene for adult-onset primary open-angle glaucoma to chromosome 3q.

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12 December 2020

Genetic modifiers of vision and hearing

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12 December 2020

Novel trabecular meshwork inducible glucocorticoid response mutation in an eight-generation juvenile-onset primary open-angle glaucoma pedigree

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12 December 2020

Genetic heterogeneity of congenital glaucoma

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12 December 2020

Structural alignments of P450s and extrapolations to the unknown

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12 December 2020

Molecular genetics of primary congenital glaucoma

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12 December 2020

A gene responsible for the pigment dispersion syndrome maps to chromosome 7q35-q36

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12 December 2020

A second locus for Rieger syndrome maps to chromosome 13q14

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12 December 2020

Molecular basis of open-angle glaucoma in Italy

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12 December 2020

Epidemiology and genetics of primary congenital glaucoma in Slovakia. Description of a form of primary congenital glaucoma in gypsies with autosomal-recessive inheritance and complete penetrance.

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12 December 2020

Localization of the fourth locus (GLC1E) for adult-onset primary open-angle glaucoma to the 10p15-p14 region

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12 December 2020

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A)

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12 December 2020

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

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12 December 2020

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12 December 2020

Novel mutations in the TIGR gene in early and late onset open angle glaucoma

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12 December 2020

Observations on the Development of the Anterior Chamber Angle with Reference to the Pathogenesis of Congenital Glaucomas

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12 December 2020

Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma

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12 December 2020

Identification of a new ‘TIGR’ mutation in a family with juvenile-onset primary open angle glaucoma

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12 December 2020

Myocilin and glaucoma: A TIGR by the tail?

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12 December 2020

Characterization of the mouse Myoc/Tigr gene.

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12 December 2020

Characterization and comparison of the human and mouse GLC1A glaucoma genes

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12 December 2020

Mutations in the TIGR Gene in Familial Primary Open-Angle Glaucoma in Japan

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12 December 2020

Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea

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12 December 2020

Analysis of myocilin mutations in 1703 glaucoma patients from five different populations

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12 December 2020

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

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12 December 2020

Prevalence of mutations in TIGR/Myocilin in patients with adult and juvenile primary open-angle glaucoma

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12 December 2020

Congenital glaucoma and its inheritance

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12 December 2020

Triallelic inheritance in Bardet-Biedl syndrome, a Mendelian recessive disorder

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12 December 2020

Optimedin: a novel olfactomedin-related protein that interacts with myocilin

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12 December 2020

Recurrent Mutations in a Single Exon Encoding the Evolutionarily Conserved Olfactomedin-Homology Domain of TIGR in Familial Open-Angle Glaucoma

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12 December 2020

Analysis of myocilin gene mutations in Japanese patients with normal tension glaucoma and primary open-angle glaucoma.

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12 December 2020

A second locus (GLC3B) for primary congenital glaucoma (Buphthalmos) maps to the 1p36 region

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12 December 2020

Distribution of p53 codon 72 polymorphism in Indian primary open angle glaucoma patients

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12 December 2020

Olfactomedin: purification, characterization, and localization of a novel olfactory glycoprotein

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12 December 2020

A major marker for normal tension glaucoma: association with polymorphisms in the OPA1 gene

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12 December 2020

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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12 December 2020

Number of people with glaucoma worldwide

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12 December 2020

Genetic basis of glaucoma

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12 December 2020

Blindness in the Indian state of Andhra Pradesh

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12 December 2020

Novel cytochrome P4501B1 (CYP1B1) gene mutations in Japanese patients with primary congenital glaucoma

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12 December 2020

Phorbol esters and cytokines regulate the expression of the NEMO-related protein, a molecule involved in a NF-kappa B-independent pathway

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12 December 2020

Importance of the proline-rich region following signal-anchor sequence in the formation of correct conformation of microsomal cytochrome P-450s

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12 December 2020

Investigating the association between OPA1 polymorphisms and glaucoma: comparison between normal tension and high tension primary open angle glaucoma

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12 December 2020

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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12 December 2020

Homozygotes carrying an autosomal dominant TIGR mutation do not manifest glaucoma

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12 December 2020

Phenotypic heterogeneity of CYP1B1: mutations in a patient with Peters' anomaly

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12 December 2020

Population genetical aspects of primary congenital glaucoma. I. Incidence, prevalence, gene frequency, and age of onset

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12 December 2020

Different structural requirements at specific proline residue positions in the conserved proline-rich region of cytochrome P450 2C2

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12 December 2020

ProMod and Swiss-Model: Internet-based tools for automated comparative protein modelling

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12 December 2020

Assignment of a locus (GLC3A) for primary congenital glaucoma (Buphthalmos) to 2p21 and evidence for genetic heterogeneity

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12 December 2020

12(R)-hydroxyicosatetraenoic acid: a cytochrome-P450-dependent arachidonate metabolite that inhibits Na+,K+-ATPase in the cornea

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12 December 2020

Identification of novel mutations causing familial primary congenital glaucoma in Indian pedigrees

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12 December 2020

Genetic linkage of familial open angle glaucoma to chromosome 1q21–q31

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12 December 2020

Gene structure and properties of TIGR, an olfactomedin-related glycoprotein cloned from glucocorticoid-induced trabecular meshwork cells

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12 December 2020

Distributions of p53 codon 72 polymorphism in primary open angle glaucoma

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12 December 2020

Localization of a locus (GLC1B) for adult-onset primary open angle glaucoma to the 2cen-q13 region

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12 December 2020