Primary congenital glaucoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
CYP1B1 Gene and Phenotypic Correlation in Patients From Northeastern Brazil With Primary Congenital Glaucoma.
|
30520782 |
2019 |
Primary congenital glaucoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Direct sequencing of the CYP1B1 gene revealed a novel 3' splice acceptor site causative variant segregating in an autosomal recessive manner in a large consanguineous family with four PCG-affected individuals.
|
30270463 |
2019 |
Primary congenital glaucoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
CYP1B1 mutations could be considered as a prognostic factor for surgery in primary congenital glaucoma.
|
31024815 |
2019 |
Primary congenital glaucoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This study is the first report of a homozygous CYP1B1 whole gene deletion due to paternal uniparental isodisomy of chromosome 2 as a cause of PCG.
|
31251480 |
2019 |
Primary congenital glaucoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Similar analysis will be helpful in understanding of the biological role of CYP1B1 and the effect of mutations on the regulatory and enzymatic functions of CYP1B1 that result in PCG.
|
28386709 |
2018 |
Primary congenital glaucoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our findings could be useful in improving treatment strategy of PCG associated with CYP1B1 mutations.
|
28448622 |
2017 |
Primary congenital glaucoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Three distinct levels interact sequentially to produce PCG: (i) genetic mutations mainly affecting the CYP1B1 gene, (ii) absence or dysregulation of a morphogen, and (iii) trabecular meshwork pathological changes either in patterning or remodeling.
|
28730218 |
2017 |
Primary congenital glaucoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Overall, our data suggest that interaction of TEK and CYP1B1 contributes to PCG pathogenesis and argue that TEK-CYP1B1 may perform overlapping as well as distinct functions in manifesting the disease etiology.
|
28620713 |
2017 |
Primary congenital glaucoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
CYP1B1 Mutations in Individuals With Primary Congenital Glaucoma and Residing in Denmark.
|
27820421 |
2016 |
Primary congenital glaucoma
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
These results confirm the pathogenicity of the analysed missense CYP1B1 variants and further support the concept that either absent or very low CYP1B1 activity levels are the primary molecular defect involved in PCG pathogenesis.
|
27060699 |
2016 |
Primary congenital glaucoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This clinical case reveals the etiological relationship between CYP1B1 mutations and PCG.
|
25836661 |
2016 |
Primary congenital glaucoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
DNA sequencing analysis of the CYP1B1 gene was used to screen 21 children with PCG followed on Paediatric Ophthalmology and Medical Genetics consultations at D. Estefânia's Hospital (Centro Hospitalar de Lisboa Central, Portugal).
|
25952714 |
2016 |
Primary congenital glaucoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
Screening of the LTBP2 gene in 214 Chinese sporadic CYP1B1-negative patients with primary congenital glaucoma.
|
27293371 |
2016 |
Primary congenital glaucoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Patients with unilateral or bilateral PCG diagnosed at the American University of Beirut Medical Center and their first-degree relatives (parents and siblings) were screened for CYP1B1 and MYOC mutations.
|
24940937 |
2016 |
Primary congenital glaucoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A clinical and molecular genetic study was performed on a cohort of 17 patients with PCG and known CYP1B1 mutation profile including 10 subjects with and 7 cases without mutations.
|
25580891 |
2016 |
Primary congenital glaucoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In this study, we assessed the relationship between PCG and FOXC1 variants by Sanger sequencing the proximal promoter and transcribed sequence of FOXC1 from a cohort of 133 PCG families with no known CYP1B1 or MYOC mutations.
|
26220699 |
2016 |
Primary congenital glaucoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in CYP1B1 result in primary congenital glaucoma (PCG) by an autosomal recessive mode of inheritance while it acts as a modifier locus for primary open angle glaucoma (POAG).
|
27243976 |
2016 |
Primary congenital glaucoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
The fact that this dysmorphic girl is Saudi Arabian and has CYP1B1-negative primary congenital glaucoma suggests that her glaucoma phenotype is related to her de novo copy number variation.
|
24911043 |
2016 |
Primary congenital glaucoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
CYP1B1 mutations are the cause of disease in a notable fraction of primary congenital glaucoma (PCG) patients and in a smaller fraction of primary open angle glaucoma (POAG) patients.
|
26982174 |
2016 |
Primary congenital glaucoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
This is the first study to report on CYP1B1 CNV in PCG cases.
|
25750510 |
2015 |
Primary congenital glaucoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Genotype-phenotype correlations was undertaken on clinically well characterized PCG cases from India (n=301) and Brazil (n=150) to assess the contributions of CYP1B1 mutation on a set of demographic and clinical parameters.
|
25978063 |
2015 |
Primary congenital glaucoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the CYP1B1 gene in PCG and POAG patients.
|
25091052 |
2015 |
Primary congenital glaucoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Multivariate analysis revealed that, after adjustment of the parameters that showed significant differences in univariate analyses, corneal diameter was the main factor explaining the severity of PCG only in the double CYP1B1 null allele carriers.
|
25826643 |
2015 |
Primary congenital glaucoma
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Our findings advance the understanding of the effects of CYP1B1 mutations in TM development and primary congenital glaucoma, as well as suggest a link between TM morphologic alterations and increased intraocular pressure.
|
24879660 |
2015 |
Primary congenital glaucoma
|
0.500 |
Biomarker
|
disease |
BEFREE |
To understand the CYP1B1 mediated etiopathology of PCG and pathomechanism of various cancers, it is important to carry out its functional studies.
|
25329831 |
2014 |