glaucoma/proline

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[A preliminary study on gene mutation and its function in a large family (GZ.1 pedigree) with open-angle glaucoma].

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Přihlášení Registrace

OBJECTIVE To determine the causative mutation of myocilin gene and to investigate its pathogenic function in a large Chinese pedigree (GZ.1) with familial open-angle glaucoma. METHODS Genome-wide scanning was performed and the Lod scores were calculated. Candidate gene was amplified and screened for

Distributions of p53 codon 72 polymorphism in primary open angle glaucoma.

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Přihlášení Registrace

BACKGROUND Glaucomatous neuropathy is a type of cell death by apoptosis. The p53 gene is one of the regulatory genes of apoptosis. Recently, p53 codon 72 polymorphism has been extensively studied to determine the risk factors responsible for many diseases. In the p53 gene, a single base change from

[Regulation of reparative processes in glaucoma surgery by collalysin].

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Přihlášení Registrace

Collalysin, a proteolytic enzyme, selectively acting on the young connective tissue, is suggested to be used as part of the complex of measures to prevent excessive cicatrization after antiglaucoma surgery. Rabbit experiments with 3H proline confirm the efficacy of the new drug; a more manifest

TIGR gene in primary open-angle glaucoma and steroid-induced glaucoma.

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To identify TIGR gene mutation in two Korean pedigrees of primary open-angle glaucoma (POAG), and in 25 steroid-induced glaucoma patients, TIGR gene assay was performed. Genomic DNA was extracted from peripheral blood and the TIGR gene was amplified by polymerase chain reaction (PCR). The PCR

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

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Přihlášení Registrace

OBJECTIVE Glaucoma is a complex neurodegenerative disorder of the eye. Primary Open Angle Glaucoma (POAG) is the most common type, accounting for over half of the total cases. Recently, a significant difference in the distribution of the codon 72 polymorphism of the tumor suppressor gene p53 between

[Gene screening as the forewarning measure to predict glaucoma].

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OBJECTIVE To investigate the effect of gene screening on forewarning and monitoring of familial open-angle glaucoma pedigree. METHODS Comprehensive ophthalmic examinations were performed in all available family members. The genomic DNA was extracted from peripheral blood. The myocilin gene was

Presymptomatic genetic diagnosis for consulters from a large Chinese family with juvenile open angle glaucoma.

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Přihlášení Registrace

OBJECTIVE To provide genetic counseling and presymptomatic diagnosis to family members by investigating the genetic cause of a large primary juvenile open angle glaucoma (JOAG) pedigree with an autosomal dominant pattern. METHODS Ocular examinations were performed on all members of the pedigree in

Molecular analysis of the CYP1B1 gene: identification of novel truncating mutations in patients with primary congenital glaucoma.

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Přihlášení Registrace

BACKGROUND Mutations and polymorphisms have been identified in the CYP1B1 gene; while mutations that affect the conserved core structures of cytochrome P4501B1 result in primary congenital glaucoma (PCG), mutations in other regions hold the potential to define differences in estrogen metabolism. In

Changes in the content and composition of collagen in the glaucomatous eye--basis for a new hypothesis for the genesis of chronic open angle glaucoma--a preliminary report.

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Přihlášení Registrace

The pressure theory is still predominant in explaining the pathophysiology of the chronic open angle glaucoma. An insufficient drainage system resulting in an increased intraocular pressure is the basis for this theory. The pressure will exert an effect upon the optic disc which either directly on

c.194 A>C (Q65P) mutation in the LMX1B gene in patients with nail-patella syndrome associated with glaucoma.

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Přihlášení Registrace

OBJECTIVE To report the clinical, ophthalmic, extraophthalmic, and genetic characteristics of nail-patella syndrome (NPS) in a Chilean family and to investigate the expressivity of open angle glaucoma (OAG) and ocular hypertension (OHT) in the family members. METHODS Five family members affected

Ser341Pro MYOC gene mutation in a family with primary open-angle glaucoma.

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Přihlášení Registrace

Glaucoma is known to induce visual impairment and blindness. The aim of the present study was to determine the clinical and genetic findings of a family with primary open-angle glaucoma (POAG). A family diagnosed with glaucoma was examined clinically and followed up for five years. Genomic DNA was

TP53 codon 72 polymorphism and the risk of glaucoma in a north Indian cohort: A genetic association study.

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Přihlášení Registrace

BACKGROUND The TP53 codon 72 Proline-Arginine polymorphism (TP53 P72R) is the most widely studied candidate among those evaluated for a putative association between impaired apoptosis and glaucoma. Considering the earlier findings about enhanced apoptotic potential by the Arg variant of TP53 P72R

Morphological evaluation of the conjunctiva and the trabecular meshwork incubated with Proline-3H.

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Přihlášení Registrace

It is well known that the trabecular meshwork is a complex structure in the shape of collagen and like-elastic fibers dipped in amorfous matrix. Previous researches have been showed that in the glaucoma disease there is a sclerosis in the lamellae of the trabecular meshwork and an increase in

Association between p53 codon 72 (Arg72Pro) polymorphism and primary open-angle glaucoma in Iranian patients.

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Přihlášení Registrace

Glaucomatous neuropathy is a type of cell death due to apoptosis. The p53 gene is one of the regulatory genes of apoptosis. Recently, the association between the p53 gene encoding for proline at codon 72 and primary open-angle glaucoma (POAG) has been studied in some ethnic groups. This study is the

Proteomic profiling of inflammatory signaling molecules in the tears of patients on chronic glaucoma medication.

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Přihlášení Registrace

OBJECTIVE To identify the tear proteins associated with the long-term use of glaucoma medication by using proteomic analysis and to compare these proteins to those previously reported in primary dry eye disease. METHODS Eighteen patients treated with topical antiglaucoma medications and 10 normal

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