Published in Mol Vis on April 20, 2004
Olfactomedin domain-containing proteins: possible mechanisms of action and functions in normal development and pathology. Mol Neurobiol (2009) 1.54
Myocilin is a modulator of Wnt signaling. Mol Cell Biol (2009) 1.14
Olfactomedin-2 mediates development of the anterior central nervous system and head structures in zebrafish. Mech Dev (2007) 1.06
A molecular mechanism for glaucoma: endoplasmic reticulum stress and the unfolded protein response. Trends Mol Med (2013) 0.96
Olfactomedin 2: expression in the eye and interaction with other olfactomedin domain-containing proteins. Invest Ophthalmol Vis Sci (2011) 0.91
Linkage and association of phospholipid transfer protein activity to LASS4. J Lipid Res (2011) 0.91
Optimedin induces expression of N-cadherin and stimulates aggregation of NGF-stimulated PC12 cells. Exp Cell Res (2006) 0.83
Olfactomedin-like 3 (OLFML3) gene expression in baboon and human ocular tissues: cornea, lens, uvea, and retina. J Med Primatol (2013) 0.77
Olfactomedin-like 2 A and B (OLFML2A and OLFML2B) expression profile in primates (human and baboon). Biol Res (2016) 0.75
Identification and functional characterisation of genetic variants in OLFM2 in children with developmental eye disorders. Hum Genet (2016) 0.75
Wilson's disease: an update. Nat Clin Pract Neurol (2006) 1.92
Diverse functional properties of Wilson disease ATP7B variants. Gastroenterology (2012) 1.61
Micronuclei as biomarkers of carcinogen exposure in populations exposed to arsenic through drinking water in West Bengal, India: a comparative study in three cell types. Cancer Epidemiol Biomarkers Prev (2004) 1.57
Molecular diagnosis of Wilson disease using prevalent mutations and informative single-nucleotide polymorphism markers. Clin Chem (2007) 1.50
Arabidopsis thaliana transcription factors bZIP19 and bZIP23 regulate the adaptation to zinc deficiency. Proc Natl Acad Sci U S A (2010) 1.45
Primary role of CYP1B1 in Indian juvenile-onset POAG patients. Mol Vis (2006) 1.26
Gln48His is the prevalent myocilin mutation in primary open angle and primary congenital glaucoma phenotypes in India. Mol Vis (2005) 1.06
A structural model of the copper ATPase ATP7B to facilitate analysis of Wilson disease-causing mutations and studies of the transport mechanism. Metallomics (2012) 1.05
Copper handling machinery of the brain. Metallomics (2010) 1.04
Distribution of p53 codon 72 polymorphism in Indian primary open angle glaucoma patients. Mol Vis (2002) 1.04
Effect of sodium arsenite on peripheral lymphocytes in vitro: individual susceptibility among a population exposed to arsenic through the drinking water. Mutagenesis (2004) 1.03
Comparison of health effects between individuals with and without skin lesions in the population exposed to arsenic through drinking water in West Bengal, India. J Expo Sci Environ Epidemiol (2006) 1.03
Genetic variants associated with arsenic susceptibility: study of purine nucleoside phosphorylase, arsenic (+3) methyltransferase, and glutathione S-transferase omega genes. Environ Health Perspect (2008) 1.02
Toxicogenomics of arsenic: classical ideas and recent advances. Mutat Res (2008) 1.01
Cellular copper levels determine the phenotype of the Arg875 variant of ATP7B/Wilson disease protein. Proc Natl Acad Sci U S A (2011) 0.99
Mutations in MYOC gene of Indian primary open angle glaucoma patients. Mol Vis (2002) 0.98
Leu432Val polymorphism in CYP1B1 as a susceptible factor towards predisposition to primary open-angle glaucoma. Mol Vis (2008) 0.97
Cytogenetic damage and genetic variants in the individuals susceptible to arsenic-induced cancer through drinking water. Int J Cancer (2006) 0.95
Evaluation of Optineurin as a candidate gene in Indian patients with primary open angle glaucoma. Mol Vis (2005) 0.91
Determination of variants in the 3'-region of the tyrosinase gene requires locus specific amplification. Hum Mutat (2005) 0.89
A Line 1 insertion in the Factor IX gene segregates with mild hemophilia B in dogs. Mamm Genome (2003) 0.88
Evaluation of the OPTC gene in primary open angle glaucoma: functional significance of a silent change. BMC Mol Biol (2007) 0.88
Myocilin variants in Indian patients with open-angle glaucoma. Arch Ophthalmol (2007) 0.88
Difference in stability of the N-domain underlies distinct intracellular properties of the E1064A and H1069Q mutants of copper-transporting ATPase ATP7B. J Biol Chem (2011) 0.87
Evaluation of genetic markers linked to hemophilia A locus: an Indian experience. Haematologica (2007) 0.86
Higher prevalence of OCA1 in an ethnic group of eastern India is due to a founder mutation in the tyrosinase gene. Mol Vis (2005) 0.86
Molecular basis for involvement of CYP1B1 in MYOC upregulation and its potential implication in glaucoma pathogenesis. PLoS One (2012) 0.85
Mitochondrial genome analysis of primary open angle glaucoma patients. PLoS One (2013) 0.84
Occurrence of GCH1 gene mutations in a group of Indian dystonia patients. J Neural Transm (Vienna) (2012) 0.84
Molecular pathogenesis of Wilson disease among Indians: a perspective on mutation spectrum in ATP7B gene, prevalent defects, clinical heterogeneity and implication towards diagnosis. Cell Mol Neurobiol (2007) 0.84
Association of IL1A and IL1B loci with primary open angle glaucoma. BMC Med Genet (2010) 0.84
SLC45A2 variations in Indian oculocutaneous albinism patients. Mol Vis (2007) 0.83
Molecular pathogenesis of Parkinson's disease: identification of mutations in the Parkin gene in Indian patients. Parkinsonism Relat Disord (2006) 0.83
Comprehensive analysis of myocilin variants in east Indian POAG patients. Mol Vis (2012) 0.83
Role of glutathione S-transferase T1, M1 and P1 polymorphisms in Indian Parkinson's disease patients. Parkinsonism Relat Disord (2011) 0.83
DJ-1 variants in Indian Parkinson's disease patients. Dis Markers (2012) 0.82
Did myocilin evolve from two different primordial proteins? Mol Vis (2002) 0.82
A novel COMMD1 mutation Thr174Met associated with elevated urinary copper and signs of enhanced apoptotic cell death in a Wilson Disease patient. Behav Brain Funct (2010) 0.80
DNA linkage based diagnosis of Wilson disease in asymptomatic siblings. Indian J Med Res (2003) 0.80
Role of tau kinases (CDK5R1 and GSK3B) in Parkinson's disease: a study from India. Neurobiol Aging (2010) 0.79
Analysis of MC1R variants in Indian oculocutaneous albinism patients: highlighting the risk of skin cancer among albinos. J Genet (2013) 0.79
Molecular and functional studies of tyrosinase variants among Indian oculocutaneous albinism type 1 patients. J Invest Dermatol (2010) 0.79
Complex genetics of glaucoma: defects in CYP1B1, and not MYOC, cause pathogenesis in an early-onset POAG patient with double variants at both loci. J Genet (2008) 0.79
Microtubule-associated protein tau (MAPT) influences the risk of Parkinson's disease among Indians. Neurosci Lett (2009) 0.79
Evaluation of PINK1 variants in Indian Parkinson's disease patients. Parkinsonism Relat Disord (2009) 0.79
Genetic study on frontotemporal lobar degeneration in India. Parkinsonism Relat Disord (2013) 0.78
Indian genetic disease database. Nucleic Acids Res (2010) 0.78
Upregulation of human mitochondrial NADH dehydrogenase subunit 5 in intestinal epithelial cells is modulated by Vibrio cholerae pathogenesis. FEBS Lett (2005) 0.78
Evaluation of the role of LRRK2 gene in Parkinson's disease in an East Indian cohort. Dis Markers (2012) 0.78
SNPs in genes with copy number variation: a question of specificity. J Genet (2008) 0.78
Genetic association and gene-gene interaction of HAS2, HABP1 and HYAL3 implicate hyaluronan metabolic genes in glaucomatous neurodegeneration. Dis Markers (2012) 0.77
Simple and effective strategies for detection of allele dropout in PCR-based diagnosis of Wilson disease. Clin Chem (2006) 0.77
WDR36 variants in East Indian primary open-angle glaucoma patients. Mol Vis (2011) 0.76
Analysis of COCH and TNFA variants in East Indian primary open-angle glaucoma patients. Biomed Res Int (2013) 0.75
Genetics and bioinformatics of primary open angle glaucoma: an Indian perspective. J Indian Med Assoc (2004) 0.75
Donor/acceptor chromophores-decorated triazolyl unnatural nucleosides: synthesis, photophysical properties and study of interaction with BSA. Org Biomol Chem (2016) 0.75
Analysis of single nucleotide polymorphisms of PRNP gene in twenty-four ethnic groups of India. J Genet (2010) 0.75
Triazolyl donor/acceptor chromophore decorated unnatural nucleosides and oligonucleotides with duplex stability comparable to that of a natural adenine/thymine pair. J Org Chem (2012) 0.75
Myocilin mutation 1109 C>T (Pro 370 Leu) is the most common gene defect causing early onset primary open angle glaucoma. Indian J Ophthalmol (2003) 0.75
TBK1 duplication is found in normal tension and not in high tension glaucoma patients of Indian origin. J Genet (2016) 0.75
Dual door entry to exciplex emission in a chimeric DNA duplex containing non-nucleoside-nucleoside pair. Chem Commun (Camb) (2014) 0.75
Gene symbol: MYOC. Hum Genet (2007) 0.75
Genetics of eye diseases: preface. J Genet (2009) 0.75
Gene therapy in medicine. Indian J Ophthalmol (2002) 0.75
Mitochondrial genome variations among arsenic exposed individuals and potential correlation with apoptotic parameters. Environ Mol Mutagen (2013) 0.75
Design and synthesis of triazolyl-donor/acceptor unnatural nucleosides and oligonucleotide probes containing triazolyl-phenanthrene nucleoside. Curr Protoc Nucleic Acid Chem (2014) 0.75