W C Nichols
Affiliation: Children's Hospital Medical Center
- Maternal inheritance and mitochondrial DNA variants in familial Parkinson's diseaseDavid K Simon
Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, USA
BMC Med Genet 11:53. 2010..We investigated the potential contribution of mtDNA variants or mutations to the risk of PD...
- Linkage stratification and mutation analysis at the Parkin locus identifies mutation positive Parkinson's disease familiesW C Nichols
Division of Human Genetics, Children's Hospital Medical Center, Cincinnati, OH, USA
J Med Genet 39:489-92. 2002
- Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson diseaseT Foroud
Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, USA
Neurology 60:796-801. 2003..The vast majority of the parkin mutations previously identified have been found in individuals with juvenile or early onset PD. Previous screening of later onset PD cohorts has not identified substantial numbers of parkin mutations...
- 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...
- A mutation in myotilin causes spheroid body myopathyT Foroud
Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202 5251, USA
Neurology 65:1936-40. 2005..Identification of the mutated gene in this disorder may provide insight regarding abnormal neuromuscular function...
- Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson diseaseK Haugarvoll
Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
Neurology 70:1456-60. 2008..Several dominantly inherited pathogenic substitutions have been identified in different domains of the Lrrk2 protein. Herein, we characterize the clinical and genetic features associated with Lrrk2 p.R1441C...
- Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertensionR Koehler
Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany
J Med Genet 41:e127. 2004
- Genes influencing Parkinson disease onset: replication of PARK3 and identification of novel lociN Pankratz
Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, IN, USA
Neurology 62:1616-8. 2004..8) was observed. Evidence of linkage was also detected to chromosomes 1q (lod = 3.0) and 8q (lod = 2.6). These data suggest that the genes influencing age at PD onset likely differ from those that contribute to PD susceptibility...
- Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiencyM Neerman-Arbez
Department of Genetics and Microbiology, Division of Medical Genetics, University of Geneva Medical School, Switzerland
Blood 93:2253-60. 1999..In two such families, ERGIC-53 protein was detectable at normal levels in patients' lymphocytes, raising the further possibility of defects at other genetic loci...
- Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIIIW C Nichols
Department of Internal Medicine, University of Michigan, Ann Arbor 48109 0650, USA
Cell 93:61-70. 1998..These findings suggest that ERGIC-53 may function as a molecular chaperone for the transport from ER to Golgi of a specific subset of secreted proteins, including coagulation factors V and VIII...
- Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpuraG G Levy
Howard Hughes Medical Institute, Departments of Internal Medicine and Human Genetics, and Cellular and Molecular Biology Program, University of Michigan Medical Center, Ann Arbor, Michigan 48109, USA
Nature 413:488-94. 2001..We show that deficiency of ADAMTS13 is the molecular mechanism responsible for TTP, and suggest that physiologic proteolysis of VWF and/or other ADAMTS13 substrates is required for normal vascular homeostasis...
- BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertensionR D Machado
Division of Medical Genetics, Departments of Medicine and Genetics, University of Leicester, Leicester, England LE1 7RH
Am J Hum Genet 68:92-102. 2001....
- Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta familyJ R Thomson
Division of Medical Genetics, Departments of Medicine and Genetics, University of Leicester, UK
J Med Genet 37:741-5. 2000..We have searched for BMPR2 gene mutations in sporadic PPH patients to determine whether the same genetic defect underlies the more common form of the disorder...
- Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertensionK B Lane
Vanderbilt University Medical Center, Nashville, Tennessee, USA
Nat Genet 26:81-4. 2000..Our data demonstrate the molecular basis of FPPH and underscore the importance in vivo of the TGF-beta signalling pathway in the maintenance of blood vessel integrity...
- ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency familiesW C Nichols
Division of Human Genetics, Children s Hospital Medical Center, Cincinnati, OH, USA
Blood 93:2261-6. 1999..Taken together, these results suggest that a significant subset of combined factors V and VIII deficiency is due to mutation in one or more additional genes...
- A novel modifier gene for plasma von Willebrand factor level maps to distal mouse chromosome 11K L Mohlke
Department of Human Genetics, University of Michigan Medical School, Ann Arbor 48109, USA
Proc Natl Acad Sci U S A 93:15352-7. 1996..Characterization of the human homologue for Mvwf may have relevance for a subset of type 1 VWD cases and may define an important genetic factor modifying penetrance and expression of mutations at the VWF locus...