Published in Hum Mutat on September 01, 2008
Systematic genetic and genomic analysis of cytochrome P450 enzyme activities in human liver. Genome Res (2010) 2.06
CYP1B1 mutations in Spanish patients with primary congenital glaucoma: phenotypic and functional variability. Mol Vis (2009) 1.10
Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1. Eur J Hum Genet (2013) 1.09
[Development of the iridocorneal angle and congenital glaucoma]. Ophthalmologe (2011) 0.93
Molecular analysis of CYP1B1 in Omani patients with primary congenital glaucoma: a pilot study. Mol Vis (2009) 0.91
A novel methodology for enhanced and consistent heterologous expression of unmodified human cytochrome P450 1B1 (CYP1B1). PLoS One (2014) 0.87
Molecular basis for involvement of CYP1B1 in MYOC upregulation and its potential implication in glaucoma pathogenesis. PLoS One (2012) 0.85
Screening of CYP1B1 and MYOC in Moroccan families with primary congenital glaucoma: three novel mutations in CYP1B1. Mol Vis (2010) 0.81
Kuwaiti population subgroup of nomadic Bedouin ancestry-Whole genome sequence and analysis. Genom Data (2014) 0.78
CYP1B1 Enhances Cell Proliferation and Metastasis through Induction of EMT and Activation of Wnt/β-Catenin Signaling via Sp1 Upregulation. PLoS One (2016) 0.77
Neural crest derivatives in ocular development: discerning the eye of the storm. Birth Defects Res C Embryo Today (2015) 0.77
Carrier frequency of CYP1B1 mutations in the United States (an American Ophthalmological Society thesis). Trans Am Ophthalmol Soc (2014) 0.76
PROXIMAL: a method for Prediction of Xenobiotic Metabolism. BMC Syst Biol (2015) 0.75
A translational bioinformatic approach in identifying and validating an interaction between Vitamin A and CYP19A1. BMC Genomics (2015) 0.75
Cyp1b1 Regulates Ocular Fissure Closure Through a Retinoic Acid-Independent Pathway. Invest Ophthalmol Vis Sci (2017) 0.75
Ocular cytochrome P450s and transporters: roles in disease and endobiotic and xenobiotic disposition. Drug Metab Rev (2014) 0.75
Analysis of CYP1B1 in pediatric and adult glaucoma and other ocular phenotypes. Mol Vis (2016) 0.75
CYP1B1 copy number variation is not a major contributor to primary congenital glaucoma. Mol Vis (2015) 0.75
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet (2010) 8.48
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study. Lancet (2012) 8.42
Psoriasis is associated with increased beta-defensin genomic copy number. Nat Genet (2007) 8.07
Mutations in the pericentrin (PCNT) gene cause primordial dwarfism. Science (2008) 4.04
Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes. Nat Genet (2010) 3.82
A comprehensive linkage analysis for myocardial infarction and its related risk factors. Nat Genet (2002) 3.19
A common novel CYP2C19 gene variant causes ultrarapid drug metabolism relevant for the drug response to proton pump inhibitors and antidepressants. Clin Pharmacol Ther (2006) 3.09
Dietary long-chain n-3 fatty acids for the prevention of cancer: a review of potential mechanisms. Am J Clin Nutr (2004) 3.01
Pharmacogenomics and individualized drug therapy. Annu Rev Med (2006) 2.95
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation. Am J Hum Genet (2007) 2.74
Human laminin beta2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities. Hum Mol Genet (2004) 2.67
Common variants at TRAF3IP2 are associated with susceptibility to psoriatic arthritis and psoriasis. Nat Genet (2010) 2.56
CNTNAP2 and NRXN1 are mutated in autosomal-recessive Pitt-Hopkins-like mental retardation and determine the level of a common synaptic protein in Drosophila. Am J Hum Genet (2009) 2.41
Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation. Am J Med Genet A (2006) 2.31
Haploinsufficiency of ARID1B, a member of the SWI/SNF-a chromatin-remodeling complex, is a frequent cause of intellectual disability. Am J Hum Genet (2012) 2.12
Structural analysis of the protein phosphatase 1 docking motif: molecular description of binding specificities identifies interacting proteins. Chem Biol (2006) 2.08
Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome). Nat Genet (2005) 2.04
Mutations in the gene encoding the lamin B receptor produce an altered nuclear morphology in granulocytes (Pelger-Huët anomaly). Nat Genet (2002) 1.99
Meta-analysis confirms the LCE3C_LCE3B deletion as a risk factor for psoriasis in several ethnic groups and finds interaction with HLA-Cw6. J Invest Dermatol (2010) 1.82
Identification of a novel specific CYP2B6 allele in Africans causing impaired metabolism of the HIV drug efavirenz. Pharmacogenet Genomics (2006) 1.80
Meta- and pooled analyses of the effects of glutathione S-transferase M1 polymorphisms and smoking on lung cancer risk. Carcinogenesis (2002) 1.73
Mutations in a gene encoding a novel SH3/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy. Am J Hum Genet (2003) 1.72
Heterozygous NTF4 mutations impairing neurotrophin-4 signaling in patients with primary open-angle glaucoma. Am J Hum Genet (2009) 1.71
Linkage disequilibrium between the CYP2C19*17 allele and wildtype CYP2C8 and CYP2C9 alleles: identification of CYP2C haplotypes in healthy Nordic populations. Eur J Clin Pharmacol (2010) 1.71
Association of LOXL1 common sequence variants in German and Italian patients with pseudoexfoliation syndrome and pseudoexfoliation glaucoma. Invest Ophthalmol Vis Sci (2008) 1.71
Genotype-phenotype correlations in Noonan syndrome. J Pediatr (2004) 1.70
AMBER force-field parameters for phosphorylated amino acids in different protonation states: phosphoserine, phosphothreonine, phosphotyrosine, and phosphohistidine. J Mol Model (2005) 1.69
Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability. Am J Hum Genet (2010) 1.65
Vestibular defects in head-tilt mice result from mutations in Nox3, encoding an NADPH oxidase. Genes Dev (2004) 1.64
Mutations in microcephalin cause aberrant regulation of chromosome condensation. Am J Hum Genet (2004) 1.62
Mutations in MEF2C from the 5q14.3q15 microdeletion syndrome region are a frequent cause of severe mental retardation and diminish MECP2 and CDKL5 expression. Hum Mutat (2010) 1.59
Common genetic variants associated with open-angle glaucoma. Hum Mol Genet (2011) 1.58
NEK1 mutations cause short-rib polydactyly syndrome type majewski. Am J Hum Genet (2011) 1.56
The interleukin-10 family of cytokines. Trends Immunol (2002) 1.54
4Beta-hydroxycholesterol is a new endogenous CYP3A marker: relationship to CYP3A5 genotype, quinine 3-hydroxylation and sex in Koreans, Swedes and Tanzanians. Pharmacogenet Genomics (2008) 1.52
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions. Am J Hum Genet (2007) 1.51
Genotype-phenotype analysis in patients with giant axonal neuropathy (GAN). Neuromuscul Disord (2007) 1.49
Increased omeprazole metabolism in carriers of the CYP2C19*17 allele; a pharmacokinetic study in healthy volunteers. Br J Clin Pharmacol (2008) 1.48
MAP4-dependent regulation of microtubule formation affects centrosome, cilia, and Golgi architecture as a central mechanism in growth regulation. Hum Mutat (2014) 1.45
The Human Cytochrome P450 (CYP) Allele Nomenclature website: a peer-reviewed database of CYP variants and their associated effects. Hum Genomics (2010) 1.44
7 Mb de novo deletion within 8q21 in a patient with distal arthrogryposis type 2B (DA2B). Eur J Med Genet (2011) 1.42
Severely incapacitating mutations in patients with extreme short stature identify RNA-processing endoribonuclease RMRP as an essential cell growth regulator. Am J Hum Genet (2005) 1.40
Disruption of the histone acetyltransferase MYST4 leads to a Noonan syndrome-like phenotype and hyperactivated MAPK signaling in humans and mice. J Clin Invest (2011) 1.39
The T-cell lymphokine interleukin-26 targets epithelial cells through the interleukin-20 receptor 1 and interleukin-10 receptor 2 chains. J Biol Chem (2004) 1.38
Genotype-correlated expression of lysyl oxidase-like 1 in ocular tissues of patients with pseudoexfoliation syndrome/glaucoma and normal patients. Am J Pathol (2008) 1.38
Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6). Eur Heart J (2011) 1.37
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability. Am J Hum Genet (2013) 1.34
A novel polymorphism in ABCB1 gene, CYP2B6*6 and sex predict single-dose efavirenz population pharmacokinetics in Ugandans. Br J Clin Pharmacol (2009) 1.33
Common genetic determinants of intraocular pressure and primary open-angle glaucoma. PLoS Genet (2012) 1.33
Genetic variants of the IL-23R pathway: association with psoriatic arthritis and psoriasis vulgaris, but no specific risk factor for arthritis. J Invest Dermatol (2008) 1.32
A new quantitative PCR multiplex assay for rapid analysis of chromosome 17p11.2-12 duplications and deletions leading to HMSN/HNPP. Eur J Hum Genet (2003) 1.31
Dual selection pressure by drugs and HLA class I-restricted immune responses on human immunodeficiency virus type 1 protease. J Virol (2007) 1.28
Replication of LCE3C-LCE3B CNV as a risk factor for psoriasis and analysis of interaction with other genetic risk factors. J Invest Dermatol (2009) 1.26
Genetic polymorphism and toxicology--with emphasis on cytochrome p450. Toxicol Sci (2010) 1.26
Congenital nephrosis, mesangial sclerosis, and distinct eye abnormalities with microcoria: an autosomal recessive syndrome. Am J Med Genet A (2004) 1.26
Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23. Eur Heart J (2010) 1.25
Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1. BMC Med Genet (2011) 1.24
The importance of cycling of blood alcohol levels in the pathogenesis of experimental alcoholic liver disease in rats. Gastroenterology (2002) 1.24
Genetic regulation of serum phytosterol levels and risk of coronary artery disease. Circ Cardiovasc Genet (2010) 1.23
Homozygosity mapping in 64 Syrian consanguineous families with non-specific intellectual disability reveals 11 novel loci and high heterogeneity. Eur J Hum Genet (2011) 1.21
Comparative analysis of CYP3A expression in human liver suggests only a minor role for CYP3A5 in drug metabolism. Drug Metab Dispos (2003) 1.20
Pharmacogenomic biomarkers for prediction of severe adverse drug reactions. N Engl J Med (2008) 1.20
3'-UTR polymorphism in the human CYP2A6 gene affects mRNA stability and enzyme expression. Biochem Biophys Res Commun (2005) 1.19
Familial interstitial 570 kbp deletion of the UBE3A gene region causing Angelman syndrome but not Prader-Willi syndrome. Am J Med Genet (2002) 1.19
TNF polymorphisms in psoriasis: association of psoriatic arthritis with the promoter polymorphism TNF*-857 independent of the PSORS1 risk allele. Arthritis Rheum (2007) 1.19
Mutation in the Scyl1 gene encoding amino-terminal kinase-like protein causes a recessive form of spinocerebellar neurodegeneration. EMBO Rep (2007) 1.18
Mutations in IL36RN in patients with generalized pustular psoriasis. J Invest Dermatol (2013) 1.17
Structural investigation of the binding of a herpesviral protein to the SH3 domain of tyrosine kinase Lck. Biochemistry (2002) 1.17
Pharmacogenetic & pharmacokinetic biomarker for efavirenz based ARV and rifampicin based anti-TB drug induced liver injury in TB-HIV infected patients. PLoS One (2011) 1.17
Importance of ethnicity, CYP2B6 and ABCB1 genotype for efavirenz pharmacokinetics and treatment outcomes: a parallel-group prospective cohort study in two sub-Saharan Africa populations. PLoS One (2013) 1.17
B cell repertoire analysis identifies new antigenic domains on glycoprotein B of human cytomegalovirus which are target of neutralizing antibodies. PLoS Pathog (2011) 1.16
Cytomegaloviral proteins that associate with the nuclear lamina: components of a postulated nuclear egress complex. J Gen Virol (2009) 1.16
Estrogen and progesterone receptors: from molecular structures to clinical targets. Cell Mol Life Sci (2009) 1.16
Phenotype-genotype variability in the human CYP3A locus as assessed by the probe drug quinine and analyses of variant CYP3A4 alleles. Biochem Biophys Res Commun (2005) 1.15
Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays. J Med Genet (2007) 1.15
Novel mode of phosphorylation-triggered reorganization of the nuclear lamina during nuclear egress of human cytomegalovirus. J Biol Chem (2010) 1.14
Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome. Eur J Hum Genet (2010) 1.14
Type and level of RMRP functional impairment predicts phenotype in the cartilage hair hypoplasia-anauxetic dysplasia spectrum. Am J Hum Genet (2007) 1.14
Comparisons of CYP1A2 genetic polymorphisms, enzyme activity and the genotype-phenotype relationship in Swedes and Koreans. Eur J Clin Pharmacol (2007) 1.13
A novel myosin heavy chain gene in human chromosome 19q13.3. Gene (2003) 1.13
The human cytochrome P450 Allele Nomenclature Committee Web site: submission criteria, procedures, and objectives. Methods Mol Biol (2006) 1.13
Deletion of LCE3C and LCE3B genes at PSORS4 does not contribute to susceptibility to psoriatic arthritis in German patients. Ann Rheum Dis (2009) 1.13
CYP1A1 T3801 C polymorphism and lung cancer: a pooled analysis of 2451 cases and 3358 controls. Int J Cancer (2003) 1.13
CD and NMR studies of prion protein (PrP) helix 1. Novel implications for its role in the PrPC-->PrPSc conversion process. J Biol Chem (2003) 1.13
Variants in ASB10 are associated with open-angle glaucoma. Hum Mol Genet (2011) 1.12