PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 31251480-6 2019 CONCLUSIONS: 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. pcg 155-158 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 60-66 33892047-15 2021 Biallelic CYP1B1 variants were reported in twice as many females as males with PCG (66.7% vs 33.3%, p=0.02). pcg 79-82 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 10-16 30270463-3 2019 Mutations in the CYP1B1 gene are commonly associated with PCG. pcg 58-61 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 17-23 30270463-6 2019 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. pcg 184-187 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 25-31 30270463-11 2019 Ten out of 38 families with PCG had the disease due to CYP1B1 mutations, suggesting CYP1B1 was contributing to PCG in these Pakistani patients. pcg 28-31 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 55-61 30270463-11 2019 Ten out of 38 families with PCG had the disease due to CYP1B1 mutations, suggesting CYP1B1 was contributing to PCG in these Pakistani patients. pcg 28-31 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 84-90 30270463-11 2019 Ten out of 38 families with PCG had the disease due to CYP1B1 mutations, suggesting CYP1B1 was contributing to PCG in these Pakistani patients. pcg 111-114 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 55-61 30270463-11 2019 Ten out of 38 families with PCG had the disease due to CYP1B1 mutations, suggesting CYP1B1 was contributing to PCG in these Pakistani patients. pcg 111-114 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 84-90 33745036-11 2021 CONCLUSION: The most common cause of PCG in our region is the CYP1B1 gene mutation, and the most frequent pathogenic variant is c.182G > A (p.Gly61Glu). pcg 37-40 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 62-68 30820150-7 2019 Results: Among the known loci, mutations in CYP1B1 and LTBP2 are the common causes of PCG. pcg 86-89 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 44-50 30820150-11 2019 A single mutation, p.(Arg390His), causes PCG in six (~43%) of the 14 CYP1B1 mutations harboring families, and thus, is the most common variant in this cohort. pcg 41-44 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 69-75 30662834-15 2019 This may help to better understand the role of CYP1B1 mutations in the development of PCG and its course of pathogenicity. pcg 86-89 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 47-53 28386709-7 2018 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. pcg 178-181 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 156-162 28730218-2 2017 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. pcg 55-58 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 103-109 29142762-3 2017 The aim of this study was to investigate the distribution of mutations in the cytochrome P450 1B1 gene ( CYP1B1 ) in patients with PCG among different populations around the world from 2011 until May 2016. pcg 131-134 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 78-97 29142762-3 2017 The aim of this study was to investigate the distribution of mutations in the cytochrome P450 1B1 gene ( CYP1B1 ) in patients with PCG among different populations around the world from 2011 until May 2016. pcg 131-134 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 105-111 29142762-6 2017 CYP1B1 mutations were assessed in 1,220 patients with PCG and identified in 41.6% of them. pcg 54-57 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 0-6 29142762-15 2017 These findings suggest that the ethnic differences and the geographical distribution of PCG give us a large CYP1B1 mutation pattern. pcg 88-91 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 108-114 28448622-2 2017 Here, we analyze for the first time the CYP1B1 genotype activity and the microscopic and clinical phenotypes in human PCG. pcg 118-121 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 40-46 28448622-5 2017 The main histological changes observed in the outflow pathway of patients with PCG and mutations in CYP1B1 were: i) underdeveloped collector channels and the Schlemm"s canal; ii) abnormal insertion of the ciliary muscle; iii) death of the trabecular endothelial cells. pcg 79-82 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 100-106 28448622-6 2017 Our findings could be useful in improving treatment strategy of PCG associated with CYP1B1 mutations. pcg 64-67 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 84-90 28549150-6 2017 Mutations in three genes (CYP1B1, LTBP2, TEK) have been reported in PCG patients. pcg 68-71 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 26-32 28620713-11 2017 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. pcg 76-79 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 54-60 28620713-11 2017 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. pcg 76-79 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 112-118 27777502-6 2016 Analysis of the family history in the CYP1B1-positive families revealed POAG in confirmed or presumed heterozygous relatives in one family with PCG and two families with ASD/CG; POAG was associated with the c.1064_1076del, p.(Arg355Hisfs*69) allele in two of these pedigrees. pcg 144-147 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 38-44 25978063-4 2015 The present study attempted to delineate the clinical profile of PCG in the background of CYP1B1 mutations from a large cohort of 901 subjects from India (n=601) and Brazil (n=300). pcg 65-68 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 90-96 26997841-6 2015 How CYP1B1 causes PCG is not known; however, some basic investigations have been reported. pcg 18-21 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 4-10 26997841-7 2015 Understanding the CYP1B1 mediated etiopathomechanism of PCG is very important to identify targets for therapy and preventive management. pcg 56-59 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 18-24 26997841-8 2015 In this perspective, we will make an effort to reconstruct the pathomechanism of PCG in the light of already reported information about the disease and the CYP1B1 gene. pcg 81-84 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 156-162 27508083-8 2016 In conclusion, we identified a total of 11 mutations, reconfirming the genetic heterogeneity of CYP1B1 in the pathogenesis of PCG. pcg 126-129 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 96-102 27508083-9 2016 To the best of our knowledge, this is the largest study investigating the contribution of CYP1B1 to the pathogenesis of PCG in the Pakistani population. pcg 120-123 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 90-96 26550974-3 2016 In this study, we sought to determine CYP1B1 and MYOC sequence variations in a Vietnamese cohort of index cases with PCG and their families. pcg 117-120 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 38-44 24940937-12 2016 CONCLUSION: The rate of CYP1B1 mutations in Lebanese patients with PCG is lower than that reported in other Arab and Middle Eastern populations and suggests other genes are responsible for PCG in the remainder. pcg 67-70 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 24-30 24940937-12 2016 CONCLUSION: The rate of CYP1B1 mutations in Lebanese patients with PCG is lower than that reported in other Arab and Middle Eastern populations and suggests other genes are responsible for PCG in the remainder. pcg 189-192 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 24-30 25952714-10 2015 CONCLUSIONS: This study is the first to report the variety of mutations in the CYP1B1 gene in a group of Portuguese children with PCG and to describe 2 new mutations. pcg 130-133 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 79-85 25836661-11 2015 CONCLUSIONS: This clinical case reveals the etiological relationship between CYP1B1 mutations and PCG. pcg 98-101 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 77-83 25978063-11 2015 CONCLUSIONS: The present study demonstrated a lack of genotype-phenotype correlation of the demographic and clinical traits to CYP1B1 mutations in PCG at presentation. pcg 147-150 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 127-133 25826643-8 2015 The comparison between the no CYP1B1 mutation patients and those with nondouble null but other CYP1B1 mutations (n=17) showed significant differences in the percentage of bilateral PCG and percentages of eyes with severe opacities and severe phenotype. pcg 181-184 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 30-36 25826643-8 2015 The comparison between the no CYP1B1 mutation patients and those with nondouble null but other CYP1B1 mutations (n=17) showed significant differences in the percentage of bilateral PCG and percentages of eyes with severe opacities and severe phenotype. pcg 181-184 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 95-101 25826643-10 2015 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. pcg 196-199 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 219-225 26005556-6 2015 A statistically significant male predominance of PCG was observed only among patients without CYP1B1 mutations. pcg 49-52 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 94-100 25750510-5 2015 CONCLUSION: This is the first study to report on CYP1B1 CNV in PCG cases. pcg 63-66 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 49-55 25091052-2 2015 This study was undertaken to describe mutations in CYP1B1 in patients and families with PCG and POAG from Pakistan. pcg 88-91 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 51-57 25091052-11 2015 Sequence analysis of CYP1B1 in 39 additional families revealed one known and three novel homozygous mutations in PCG (p.Ala288Pro, p.Asp242Ala, p.Arg355* and p.Arg290Profs*37). pcg 113-116 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 21-27 26518078-2 2015 PCG is more common in populations with a higher prevalence of consanguinity and is associated with CYP1B1 gene mutations which show variable expressivity and phenotypes. pcg 0-3 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 99-105 25018621-12 2014 CONCLUSIONS: This is the largest cohort of Pakistani patients with PCG to be genetically screened for CYP1B1 mutations. pcg 67-70 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 102-108 25329831-3 2014 To understand the CYP1B1 mediated etiopathology of PCG and pathomechanism of various cancers, it is important to carry out its functional studies. pcg 51-54 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 18-24 25261878-16 2014 CONCLUSIONS: This study confirms that CYP1B1 mutations are the most frequent cause of PCG in the Saudi population, with p.Gly61Glu being the major disease-associated mutation. pcg 86-89 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 38-44 23922489-8 2013 CYP1B1 mutations were found in 16 index patients with PCG (nine), POAG (three), JOAG (two), and ARS (two). pcg 54-57 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 0-6 24942078-3 2014 This study sought to determine the frequency of CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1) mutations in 18 PCG patients, recruited from Central and Southern of Tunisia. pcg 127-130 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 48-54 24942078-3 2014 This study sought to determine the frequency of CYP1B1 (cytochrome P450, family 1, subfamily B, polypeptide 1) mutations in 18 PCG patients, recruited from Central and Southern of Tunisia. pcg 127-130 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 56-109 24227805-6 2014 RESULTS: The frequency of CYP1B1 mutation carriers in Chinese patients with PCG is 17.2%, and nine novel CYP1B1 mutations were discovered. pcg 76-79 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 26-32 21850185-3 2011 RESULTS: Among 85 patients with PCG, 22 patients (22/85; 25.9%) had either one (n=11) or two (n=11) mutant alleles of the CYP1B1 gene. pcg 32-35 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 122-128 26997785-9 2013 Mutations in cytochrome P4501B1 (CYP1B1) gene have been found to be the predominant cause of PCG. pcg 93-96 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 13-31 26997785-9 2013 Mutations in cytochrome P4501B1 (CYP1B1) gene have been found to be the predominant cause of PCG. pcg 93-96 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 33-39 23218183-17 2013 CONCLUSIONS: This is the largest analysis of CYP1B1 mutations performed in European patients with PCG to date. pcg 98-101 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 45-51 21854771-2 2011 All identifiable original studies on CYP1B1 gene mutations of patients with PCG were reviewed. pcg 76-79 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 37-43 21854771-9 2011 The findings suggest that ethnic differences and the geographical distribution of PCG may be associated with different CYP1B1 mutation patterns. pcg 82-85 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 119-125 22128238-16 2011 CONCLUSIONS: CYP1B1 mutations are the predominant cause of PCG in the Saudi Arabian population with G61E as the dominant disease-associated allele. pcg 59-62 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 13-19 22219654-2 2011 Cytochrome P450 1B1 (CYP1B1) is the major gene known to be associated with PCG. pcg 75-78 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 0-19 22219654-2 2011 Cytochrome P450 1B1 (CYP1B1) is the major gene known to be associated with PCG. pcg 75-78 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 21-27 22219654-4 2011 We hypothesized that altered gene dosage of CYP1B1 or anterior segmental dysgenesis causative genes may be involved in the pathogenesis of PCG. pcg 139-142 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 44-50 21850185-7 2011 CONCLUSIONS: Although CYP1B1 mutations are major causes of PCG in Korea, ~70% of PCG patients have neither CYP1B1 nor MYOC mutations suggesting a high degree of genetic heterogeneity. pcg 59-62 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 22-28 21850185-8 2011 Furthermore, the fact that 11 out of 22 patients had only one mutant allele in the CYP1B1 gene necessitates further investigation for other genetic backgrounds underlying PCG. pcg 171-174 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 83-89 20660114-3 2010 Mutations in CYP1B1 gene at the GLC3A locus (2p21) are associated with PCG. pcg 71-74 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 13-19 20660114-3 2010 Mutations in CYP1B1 gene at the GLC3A locus (2p21) are associated with PCG. pcg 71-74 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 32-37 20660114-5 2010 We resequenced the CYP1B1 promoter in a large cohort (n = 835) that included patients with PCG (n = 301), other primary glaucomas (primary open-angle glaucoma: n = 115 and primary angle closure glaucoma: n = 100) and unaffected controls (n = 319). pcg 91-94 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 19-25 20151268-2 2010 The aim of this study was to determine the spectrum and role of the CYP1B1 gene in Japanese patients with PCG or JOAG. pcg 106-109 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 68-74 20664688-14 2010 CONCLUSIONS: Our results support that mutations in CYP1B1 are a major cause for PCG in the Moroccan population with a predominance of the g.4339delG mutation. pcg 80-83 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 51-57 19643970-5 2010 RESULTS: Apart from known polymorphic variants, 11 amino acid substitutions in CYP1B1 reported before, both in PCG and POAG cases, were identified. pcg 111-114 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 79-85 20151268-7 2010 RESULTS: Mutational screening and sequence analyses of the CYP1B1 gene revealed four mutations in four patients with PCG: p.Asp192Val, c.4776insAT, p.Val364Met, and p.Asp430Glu. pcg 117-120 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 59-65 20151268-10 2010 CONCLUSIONS: PCG in approximately 20% of Japanese patients may be associated with CYP1B1 mutations, but JOAG is not. pcg 13-16 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 82-88 18708620-3 2009 METHODS: An earlier screening for CYP1B1 in a clinically well-characterized PCG cohort (n = 301) revealed cases that were either homozygous (n = 73), compound heterozygous (n = 18), or heterozygous (n = 41) for the mutant allele, whereas the remaining (n = 169) did not harbor any mutation. pcg 76-79 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 34-40 20057908-3 2009 In this study we identify CYP1B1 mutations in PCG patients. pcg 46-49 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 26-32 20057908-12 2009 CONCLUSION: Mutations in CYP1B1 are a major cause for PCG in our patients. pcg 54-57 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 25-31 19597567-12 2009 CONCLUSIONS: This study indicates that CYP1B1 could be the predominant cause of PCG in the Omani population (78%). pcg 80-83 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 39-45 19597567-14 2009 Further studies are needed to delineate the spectrum of CYP1B1mutations in Omani PCG families and to identify new or modifier genes contributing to the manifestations of PCG in this region. pcg 81-84 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 56-62 19744731-19 2009 The clinical implication of this observation is that seemingly unaffected relatives of patients with PCG, particularly those known to harbor CYP1B1 mutations, should undergo regular ophthalmologic examination to allow early diagnosis. pcg 101-104 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 141-147 19656777-5 2009 CYP1B1 was the first gene genetically linked to PCG, and CYP1B1 mutations are the cause of disease in 20-100% of patients in different populations. pcg 48-51 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 0-6 18414103-11 2008 CONCLUSIONS: Mexican patients with PCG are rarely (less than 10%) due to CYP1B1 mutations. pcg 35-38 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 73-79 18622259-2 2008 METHODS: CYP1B1.1 cDNA was mutated to four forms found in individuals with the PCG phenotype, Y81N, E229K, A330F, and R368H. pcg 79-82 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 9-15 18622259-11 2008 CONCLUSION: Consistent with the hypothesis, these PCG-related mutations cause identifiable structural changes negatively impacting CYP1B1 biochemistry and stability. pcg 50-53 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 131-137 19234632-15 2009 CONCLUSIONS: Our data indicate that approximately one-third of Spanish patients with PCG carry loss-of-function CYP1B1 and show that null alleles are associated with the most severe phenotypes. pcg 85-88 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 112-118 18070520-1 2007 OBJECTIVE: To identify novel CYP1B1 gene mutation in primary congenital glaucoma (PCG) patients of Hubei Han nationality and establish the possibility of gene diagnosis of PCG. pcg 82-85 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 29-35 17718864-3 2007 The aim of this study is to determine the frequency of CYP1B1 mutations in our predominately Caucasian, Australian cohort of PCG cases. pcg 125-128 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 55-61 17718864-12 2007 Mutations in CYP1B1 account for approximately one in five PCG cases from Australia. pcg 58-61 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 13-19 17893647-9 2007 CONCLUSIONS: The present work provides a mutation and intragenic SNP haplotype profile of the CYP1B1 gene in Turkish PCG families and suggests a modest contribution at best of the MYOC gene to PCG in Turkey. pcg 117-120 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 94-100 18070520-5 2007 RESULTS: Compared to normal subjects, a novel mutation was first time identified by direct sequencing demonstrating a homozygous C-to-T transition at codon 385 (CTT to TTT) which produced L385F mutation of CYP1B1 gene in 7 of the 47 patients with PCG. pcg 247-250 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 206-212 15666707-5 2004 The cytochrome P4501B1 gene located within the GLC3A locus on chromosome 2p21 is mutated in individuals with PCG. pcg 109-112 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 15-22 16490498-9 2006 CONCLUSIONS: The CYP1B1 mutation spectrum of Kuwaiti PCG patients is similar to that detected in the neighboring countries. pcg 53-56 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 17-23 16384942-2 2006 METHODS: Five intragenic single-nucleotide polymorphisms in CYP1B1-R48G, A119S, V432L, D449D, and N453S-were used to generate haplotype data from 138 Indian patients with PCG and 132 ethnically matched normal controls, which were then analyzed in conjunction with data from other populations. pcg 171-174 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 60-66 17164573-2 2007 In the present study, we analyzed the CYP1B1 gene in Mexican patients with PCG and described four novel mutations. pcg 75-78 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 38-44 15733270-3 2005 In this study, we included 72 such PCG cases where CYP1B1 mutations were detected in only 12 patients in heterozygous condition, implying involvement of other gene(s). pcg 35-38 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 51-57 15733270-4 2005 On screening these patients for mutations in myocilin (MYOC), another glaucoma-associated gene, using denaturing high-performance liquid chromatography followed by sequencing, we identified a patient who was double heterozygous at CYP1B1 (c.1103G>A; Arg368His) and MYOC (c.144G>T; Gln48His) loci, suggesting a digenic mode of inheritance of PCG. pcg 347-350 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 231-237 15733270-6 2005 These observations suggest a possible role of MYOC in PCG, which might be mediated via digenic interaction with CYP1B1 and/or an yet unidentified locus associated with the disease. pcg 54-57 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 112-118 15666707-5 2004 The cytochrome P4501B1 gene located within the GLC3A locus on chromosome 2p21 is mutated in individuals with PCG. pcg 109-112 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 47-52 15255109-6 2004 RESULTS: The molecular basis of PCG in two families was determined: two novel mutations (a deletion and a point mutation) and one novel polymorphism in CYP1B1 were identified in addition to a previously described single amino acid substitution. pcg 32-35 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 152-158 15621878-16 2004 Finally, the occurrence of PA, PCG, and unaffected individuals with identical homozygous CYP1B1 mutations in the same sibship suggests the presence of modifiers that modulate the clinical severity of the phenotypic expression of the same CYP1B1 mutation(s). pcg 31-34 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 89-95 11740343-10 2001 Two CYP1B1 mutations found in families with the PCG phenotype in which incomplete penetrance is seen were expressed in Escherichia coli. pcg 48-51 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 4-10 12036985-11 2002 CONCLUSIONS: Our results indicate that CYP1B1 mutations may be responsible for half of cases of PCG in the Brazilian population. pcg 96-99 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 39-45 14635112-11 2003 All together, these findings demonstrate the major role and the diversity of CYP1B1 mutations in French PCG patients. pcg 104-107 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 77-83 12372064-2 2002 A member of the cytochrome P450 gene family, CYP1B1, was found to be mutated in PCG patients in different populations, albeit to a variable extent. pcg 80-83 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 45-51 11980847-4 2002 RESULTS: Five distinct mutations were identified in the coding region of CYP1B1 in eight patients of five PCG-affected families, of which three mutations are novel. pcg 106-109 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 73-79 10655546-2 2000 Recently, we reported three distinct mutations in CYP1B1, the gene for cytochrome P4501B1, in 25 Saudi families segregating PCG. pcg 124-127 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 50-56 11026969-3 2000 The primary molecular defect underlying the majority of PCG cases has been identified as mutations in the cytochrome P4501B1 (CYP1B1) gene. pcg 56-59 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 106-124 11026969-3 2000 The primary molecular defect underlying the majority of PCG cases has been identified as mutations in the cytochrome P4501B1 (CYP1B1) gene. pcg 56-59 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 126-132 11026969-5 2000 Molecular modelling experiments suggest that mutations observed in PCG patients interfere with the integrity of the CYP1B1 molecule as well as its ability to adopt a normal conformation and bind haem. pcg 67-70 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 116-122 10655546-2 2000 Recently, we reported three distinct mutations in CYP1B1, the gene for cytochrome P4501B1, in 25 Saudi families segregating PCG. pcg 124-127 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 71-89 10227395-8 1999 The Slovak Roms represent the first population in which PCG is found to result from a single mutation in the CYP1B1 gene, so that a founder effect is the most plausible explanation of its increased incidence. pcg 56-59 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 109-115 9497261-8 1998 Northern hybridization analysis showed strong expression of CYP1B1 in the anterior uveal tract, which is involved in secretion of the aqueous humor and in regulation of outflow facility, processes that could contribute to the elevated intraocular pressure characteristic of PCG. pcg 274-277 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 60-66 9818478-2 1998 This mutation brings about a substitution of glutamic acid to lysine in the cytochrome P4501B1 molecule, and has been shown to be responsible, in homozygous form, for a severe and prognostically unfavourable form of primary congenital glaucoma (PCG). pcg 245-248 cytochrome P450 family 1 subfamily B member 1 Homo sapiens 87-94