Research Topics
Genomes and Genes | Lorraine ClarkSummaryAffiliation: Columbia University Country: USA Publications
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Publications
Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish populationXinmin Liu
Taub Institute for Research on Alzheimer s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA
BMC Med Genet 12:104. 2011..Collectively the associations identified in these GWAS account for only a small proportion of the estimated total heritability of PD suggesting that an 'unknown' component of the genetic architecture of PD remains to be identified...
Mutations in the glucocerebrosidase gene are associated with early-onset Parkinson diseaseL N Clark
Taub Institute for Research on Alzheimer s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
Neurology 69:1270-7. 2007..To evaluate the frequency of glucocerebrosidase (GBA) mutations in cases and controls enrolled in the Genetic Epidemiology of Parkinson's Disease (GEPD) study...
Mutations in the Parkinson's disease genes, Leucine Rich Repeat Kinase 2 (LRRK2) and Glucocerebrosidase (GBA), are not associated with essential tremorLorraine N Clark
Taub Institute for Research on Alzheimer s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, NY, NY 10032, USA
Parkinsonism Relat Disord 16:132-5. 2010..Furthermore, a similar frequency of GBA mutations in AJ ET cases and controls suggests that GBA is not a common cause of ET either...
Frequency of LRRK2 mutations in early- and late-onset Parkinson diseaseL N Clark
Taub Institute for Research on Alzheimer s Disease and the Aging Brain, Columbia University, P and S Building, 14 434, 630 West 168th Street, New York, NY 10032, USA
Neurology 67:1786-91. 2006..To evaluate the frequency of leucine-rich repeat kinase gene (LRRK2) mutations and single nucleotide polymorphisms (SNPs) in early-onset Parkinson disease (EOPD) and late-onset Parkinson disease (LOPD)...
Case-control study of the parkin gene in early-onset Parkinson diseaseLorraine N Clark
Taub Institute for Research on Alzheimer s Disease and the Aging Brain, Department of Pathology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
Arch Neurol 63:548-52. 2006..To our knowledge, all previous studies have been restricted to PD cases; this is the first study to systematically screen the parkin coding regions and exon deletions and duplications in controls...
Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicityLorraine N Clark
Taub Institute for Research on Alzheimer s Disease and the Aging Brain, Columbia University, New York, New York, USA
Mov Disord 20:100-3. 2005..4, P = 0.2). A total of 17 PD cases carry the N370S allele, including 2 homozygotes and 15 heterozygotes. The N370S allele (nt.1226 A>G) may be associated with PD in patients of Jewish ethnicity and should be examined in a larger study...
Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutationsLorraine N Clark
Taub Institute for Research on Alzheimer s Disease and the Aging Brain, Columbia University, New York, New York, USA
Mov Disord 19:796-800. 2004..Mutations in the DJ-1 gene are rare in EOPD in both sporadic and familial cases...
Replication of the LINGO1 gene association with essential tremor in a North American populationLorraine N Clark
Taub Institute for Research on Alzheimer s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, USA
Eur J Hum Genet 18:838-43. 2010..Our study independently confirms that the LINGO1 gene is a risk factor for ET in a Caucasian population in North America, and further shows that those with early-onset ET are likely to be at high risk...
The Saitohin 'Q7R' polymorphism and tau haplotype in multi-ethnic Alzheimer disease and Parkinson's disease cohortsLorraine N Clark
Department of Pathology, Columbia University, New York, NY, USA
Neurosci Lett 347:17-20. 2003..7%) and controls (56.6%); however, this difference was not statistically significant (PDD vs. controls OR 2.1; 95% CI: 0.8-5.8, P=0.2)...
The Tnfrh1 (Tnfrsf23) gene is weakly imprinted in several organs and expressed at the trophoblast-decidua interfaceLorraine Clark
Institute for Cancer Genetics, Columbia University College of Physicians and Surgeons, New York, NY, USA
BMC Genet 3:11. 2002..Although other genes in this chromosomal region show conserved synteny with genes on human Chr11p15.5, there are no obvious human orthologues of Tnfrh1 or Tnfrh2...
Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin geneLorraine N Clark
Department of Pathology, Columbia University, New York, New York 10032, USA
Mov Disord 22:932-7. 2007..Here, we show the utility of a genotyping array for Parkinson's disease by analysis of 60 subjects from the Genetic Epidemiology of Parkinson Disease (GEPD) study that includes 15 early-onset PD case probands and 45 relatives...
Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort methodYuanjia Wang
Department of Biostatistics, Mailman School of Public Health, New York, New York, USA
Arch Neurol 65:467-74. 2008..To estimate the risk of Parkinson disease (PD) in individuals with mutations in the Parkin gene...
Association of glucocerebrosidase mutations with dementia with lewy bodiesLorraine N Clark
Taub Institute for Research onAlzheimer s Disease and the Aging Brain, Columbia University, New York, NY 10032, USA
Arch Neurol 66:578-83. 2009..Mutations in the glucocerebrosidase (GBA) gene are associated with Lewy body (LB) disorders...
Self-report of cognitive impairment and mini-mental state examination performance in PRKN, LRRK2, and GBA carriers with early onset Parkinson's diseaseRoy N Alcalay
Department of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY, USA
J Clin Exp Neuropsychol 32:775-9. 2010..GBA carriers reported more impairment, but MMSE performance did not differ among genetic groups. Detailed neuropsychological testing is required to explore the association between cognitive impairment and GBA mutations...
Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease studyRoy N Alcalay
Department of Neurology, Columbia University, New York, NY 10032, USA
Arch Neurol 67:1116-22. 2010..To assess the frequency and clinical characteristics of carriers of previously identified mutations in 6 genes associated with early-onset Parkinson disease (PD) and provide empirical data that can be used to inform genetic counseling...
Disorder-associated mutations lead to functional inactivation of neuroliginsBen Chih
Department of Physiology and Cellular Biophysics, Center for Neurobiology and Behavior, Columbia University, New York, NY 10032, USA
Hum Mol Genet 13:1471-7. 2004....
Motor phenotype of LRRK2 G2019S carriers in early-onset Parkinson diseaseRoy N Alcalay
Department of Neurology, Columbia University, New York, NY 10032, USA
Arch Neurol 66:1517-22. 2009....
Placental overgrowth in mice lacking the imprinted gene IplDale Frank
Institute for Cancer Genetics, Department of Pathology, Columbia University, New York, NY 10032, USA
Proc Natl Acad Sci U S A 99:7490-5. 2002..The data further indicate that Ipl can act, at least in part, independently of insulin-like growth factor-2 signaling. Thus, genomic imprinting regulates multiple pathways to control placental size...
Predictors of parkin mutations in early-onset Parkinson disease: the consortium on risk for early-onset Parkinson disease studyKaren S Marder
Taub Institute for Research on Alzheimer s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, 630 W 168th St, Unit 16, New York, NY 10032, USA
Arch Neurol 67:731-8. 2010..Mutations in the parkin gene are the most common genetic cause of early-onset Parkinson disease (PD). Results from a multicenter study of patients with PD systematically sampled by age at onset have not been reported to date...
Promoter methylation-mediated inactivation of PCDH10 in acute lymphoblastic leukemia contributes to chemotherapy resistanceGopeshwar Narayan
Department of Pathology and Cell Biology, Columbia University Medical Center, New York, NY 10032, USA
Genes Chromosomes Cancer 50:1043-53. 2011....
Polyamine pathway contributes to the pathogenesis of Parkinson diseaseNicole M Lewandowski
Taub Institute for Research on Alzheimer s Disease and the Aging Brain, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
Proc Natl Acad Sci U S A 107:16970-5. 2010..Taken together, the findings from human patients, yeast, and a mouse model implicate the polyamine pathway in PD pathogenesis...
Research Grants
- Molecular Genetic Analysis of Lysosomal Storage Disorder Genes in PDLorraine N Clark; Fiscal Year: 2010..This study will serve to clarify the role of lysosomal genes in genetic susceptibility to PD. ..
- Beta-glucocerebrosidase Mutations and PD in the AshkenazimLorraine Clark; Fiscal Year: 2006..Significantly, recent studies suggest that mutations in the GBA gene may be associated with Parkinson's disease and the lysosomal/autophagic pathway has also been implicated in PD pathogenesis. ..
