Genomes and Genes
Affiliation: Cincinnati Children's Hospital Medical Center
- Genomewide association study for onset age in Parkinson diseaseJeanne C Latourelle
Boston University School of Medicine, Boston, MA, USA
BMC Med Genet 10:98. 2009..There have been previous genomewide association studies (GWAS) to identify genes influencing PD susceptibility, but this is the first to identify genes contributing to the variation in onset age...
- R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutationWilliam C Nichols
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229, USA
Mov Disord 22:254-7. 2007..We believe it is imperative that the causative nature of any newly identified genetic variant be determined before it is included in any panel for diagnostic testing...
- Genetic screening for a single common LRRK2 mutation in familial Parkinson's diseaseWilliam C Nichols
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
Lancet 365:410-2. 2005..Thus, our results suggest that a single LRRK2 mutation causes Parkinson's disease in 5% of individuals with familial disease. Screening for this mutation should be a component of genetic testing for Parkinson's disease...
- Evaluation of the role of Nurr1 in a large sample of familial Parkinson's diseaseWilliam C Nichols
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229, USA
Mov Disord 19:649-55. 2004..Taken together, these data suggest that genetic alteration at the Nurr1 locus is not a significant risk factor for the development of Parkinson's disease in our large sample of familial PD patients...
- LRRK2 mutation analysis in Parkinson disease families with evidence of linkage to PARK8W C Nichols
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, 3333 Burnet Ave, Cincinnati, OH 45229, USA
Neurology 69:1737-44. 2007..It is critical to catalog the types of mutations found in LRRK2 that can cause PD, so as to provide insight regarding disease susceptibility and potential novel treatments...
- Mutations in GBA are associated with familial Parkinson disease susceptibility and age at onsetW C Nichols
Associate Division of Human Genetics, Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
Neurology 72:310-6. 2009....
- Variation in GIGYF2 is not associated with Parkinson diseaseW C Nichols
Division of Human Genetics, Cincinnati Children s Hospital Medical Center, 3333 Burnet Avenue, Cincinnati, OH 45229, USA
Neurology 72:1886-92. 2009..We have tested whether mutations in GIGYF2 may account for the previously observed linkage finding...
- Genomic profile of matrix and vasculature remodeling in TGF-alpha induced pulmonary fibrosisWilliam D Hardie
Division of Pulmonary Medicine, Cincinnati Children s Hospital Medical Center, University of Cincinnati School of Medicine, Cincinnati, Ohio 45229, USA
Am J Respir Cell Mol Biol 37:309-21. 2007..These studies support a role for epithelial cell-derived TGF-alpha in the regulation of processes that alter the airway and vascular architecture and function...
- Role of dopamine transporter genotype and maternal prenatal smoking in childhood hyperactive-impulsive, inattentive, and oppositional behaviorsRobert S Kahn
Division of General and Community Pediatrics, and Children s Environmental Health Center, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229 3039, USA
J Pediatr 143:104-10. 2003..To examine the joint effects of a dopamine transporter (DAT) polymorphism and maternal prenatal smoking on childhood hyperactivity-impulsivity and inattentiveness...
- A genome-wide scan for juvenile rheumatoid arthritis in affected sibpair families provides evidence of linkageSusan D Thompson
Cincinnati Children s Hospital Medical Center, Cincinnati, OH 45229, USA
Arthritis Rheum 50:2920-30. 2004..A genome scan was performed to detect linkage to JRA in 121 families containing 247 affected children in North America (the JRA Affected Sibpair [ASP] Registry)...
- Midkine is regulated by hypoxia and causes pulmonary vascular remodelingPaul R Reynolds
Divisions of Pulmonary Biology and Human Genetics, Cincinnati Children s Hospital Medical Center, University of Cincinnati College of Medicine, 3333 Burnet Avenue, Cincinnati, OH 45229 3039, USA
J Biol Chem 279:37124-32. 2004..These data provide a model wherein the respiratory epithelium responds to hypoxia via HIF-1alpha-dependent regulation of MK, enhancing myocardin expression to influence pulmonary vascular gene expression...
- Mutations in LRRK2 other than G2019S are rare in a north American-based sample of familial Parkinson's diseaseNathan Pankratz
Indiana University Medical Center, Indianapolis, Indiana, USA
Mov Disord 21:2257-60. 2006..These results indicate that, although the G2019S mutation remains the most common mutation identified in familial PD patients, other mutations in LRRK2 are infrequent...
- Genetic screening for two LRRK2 mutations in French patients with idiopathic Parkinson's diseaseBenoit Funalot
INSERM U 573, Centre Paul Broca, Paris, France
Genet Test 10:290-3. 2006..One of our patients was of Berberian (North Africa) origin. Our 2 patients displayed genetic profiles consistent with the same ancestral haplotype as previously reported for carriers of the LRRK2 G2019S mutation...
- Mutations in DJ-1 are rare in familial Parkinson diseaseNathan Pankratz
Indiana University Medical Center, Indianapolis, IN, USA
Neurosci Lett 408:209-13. 2006..No additional missense mutations and no exon deletions or duplications were detected. Our results, in combination with those of previous studies, suggest that alterations in DJ-1 are not a common cause of familial PD...
- Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutationsLianna Ishihara
Department of Public Health and Primary Care, University of Cambridge, Cambridge, England
Arch Neurol 63:1250-4. 2006..The G2019S mutation is the most common pathogenic substitution in the leucine-rich repeat kinase 2 (LRRK2) gene, which has recently been identified in familial and sporadic Parkinson disease (PD)...
- Hearing impairment susceptibility in elderly men and the DFNA18 locusHolly J Garringer
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, USA
Arch Otolaryngol Head Neck Surg 132:506-10. 2006..To identify any chromosomal region that shows evidence for linkage to age-related hearing loss in humans...
- Combined deficiency of factor V and factor VIII is due to mutations in either LMAN1 or MCFD2Bin Zhang
Life Sciences Institute, Department of Internal Medicine, 210 Washtenaw Ave, Ann Arbor, MI 48109 0650, USA
Blood 107:1903-7. 2006....
- Pulmonary veno-occlusive disease caused by an inherited mutation in bone morphogenetic protein receptor IIJames R Runo
Division of Allergy, Pulmonary and Critical Care Medicine, Vanderbilt University Medical Center, T 1217 Medical Center North, Nashville, TN 37232 2650, USA
Am J Respir Crit Care Med 167:889-94. 2003..The finding of PVOD associated with a BMPR2 mutation reveals a possible pathogenetic connection with PPH...
- Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease familiesNathan Pankratz
Indiana University School of Medicine, Department of Medical and Molecular Genetics IB 130, 975 West Walnut Street, Indianapolis, IN 46202 5251, USA
Hum Mol Genet 12:2599-608. 2003..4) and X (LOD=3.2). These findings demonstrate consistent evidence of linkage to chromosomes 2 and X and also support the hypothesis that gene-by-gene interactions are important in PD susceptibility...
- Genetic basis of pulmonary arterial hypertension: current understanding and future directionsJohn H Newman
Vanderbilt University School of Medicine, Nashville, Tennessee, United Kingdom
J Am Coll Cardiol 43:33S-39S. 2004..Advances in genetic testing, presymptomatic screening, and biomarkers should permit early detection of disease in those at risk of PAH and allow trials of preventive therapy in carriers...
- Pulmonary arterial hypertension: future directions: report of a National Heart, Lung and Blood Institute/Office of Rare Diseases workshopJohn H Newman
Departments of Medicine, Nashville VA Medical Center GRECC, and Vanderbilt University, Nashville, Tenn, USA
Circulation 109:2947-52. 2004
- Presence of an APOE4 allele results in significantly earlier onset of Parkinson's disease and a higher risk with dementiaNathan Pankratz
Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, Indiana, USA
Mov Disord 21:45-9. 2006..It appears the similarities between PD and AD may be due to an overlap in the diseases' genetic etiology...
- Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutationsNathan Pankratz
Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis 46202 5251, USA
Am J Hum Genet 71:124-35. 2002..7) and to chromosome 2 (LOD score 2.5). Evidence of linkage was also found to chromosomes 4, 5, and 13 (LOD scores >1.5). Our findings are consistent with those of other linkage studies that have reported linkage to chromosomes 5 and X...
- Bleeding due to disruption of a cargo-specific ER-to-Golgi transport complexBin Zhang
Department of Internal Medicine, University of Michigan, Ann Arbor, Michigan 48109 0650, USA
Nat Genet 34:220-5. 2003..MCFD2 is localized to the ERGIC through a direct, calcium-dependent interaction with LMAN1. These findings suggest that the MCFD2-LMAN1 complex forms a specific cargo receptor for the ER-to-Golgi transport of selected proteins...
- Significant linkage of Parkinson disease to chromosome 2q36-37Nathan Pankratz
Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, IN 46202, USA
Am J Hum Genet 72:1053-7. 2003..1, which was obtained using an autosomal dominant model of disease transmission. This result strongly suggests that variation in a gene on chromosome 2q36-37 contributes to PD susceptibility...
- Murine pulmonary response to chronic hypoxia is strain specificYuji Tada
Division of Pulmonary Sciences and Critical Care Medicine, University of Colorado Health Sciences Center, Denver, Colorado, USA
Exp Lung Res 34:313-23. 2008..These results suggest that different strains use different gene expression mechanisms to adapt to the challenge of chronic hypoxia, resulting in modified phenotypic changes...
- Reliability of reported age at onset for Parkinson's diseaseCarson R Reider
Department of Neurology, The Ohio State University, Columbus, Ohio, USA
Mov Disord 18:275-9. 2003..The three measures of age at onset of PD show excellent agreement, strengthening confidence in the reliability of the reported age of clinical onset for PD...
- High frequency of BMPR2 exonic deletions/duplications in familial pulmonary arterial hypertensionJoy D Cogan
Division of Medical Genetics, Vanderbilt University Medical University Medical Center, Nashville, Tennessee, USA
Am J Respir Crit Care Med 174:590-8. 2006..However, direct sequencing does not detect other types of heterozygous mutations, such as exonic deletions/duplications...
- Verification of self-report of zygosity determined via DNA testing in a subset of the NAS-NRC twin registry 40 years laterTerry Reed
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, USA
Twin Res Hum Genet 8:362-7. 2005....
- CLONING OF FAMILIAL PRIMARY PULMONARY HYPERTENSION GENEWilliam Nichols; Fiscal Year: 2006..abstract_text> ..