W C Nichols

Summary

Affiliation: Children's Hospital Medical Center
Country: USA

Publications

  1. ncbi Maternal inheritance and mitochondrial DNA variants in familial Parkinson's disease
    David K Simon
    Department of Neurology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, MA, USA
    BMC Med Genet 11:53. 2010
  2. ncbi Linkage stratification and mutation analysis at the Parkin locus identifies mutation positive Parkinson's disease families
    W C Nichols
    Division of Human Genetics, Children's Hospital Medical Center, Cincinnati, OH, USA
    J Med Genet 39:489-92. 2002
  3. ncbi Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease
    T Foroud
    Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, USA
    Neurology 60:796-801. 2003
  4. ncbi LRRK2 mutation analysis in Parkinson disease families with evidence of linkage to PARK8
    W C Nichols
    Division of Human Genetics, Cincinnati Children s Hospital Medical Center, 3333 Burnet Ave, Cincinnati, OH 45229, USA
    Neurology 69:1737-44. 2007
  5. ncbi A mutation in myotilin causes spheroid body myopathy
    T Foroud
    Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202 5251, USA
    Neurology 65:1936-40. 2005
  6. ncbi Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease
    K Haugarvoll
    Department of Neurology, Mayo Clinic College of Medicine, Jacksonville, FL 32224, USA
    Neurology 70:1456-60. 2008
  7. ncbi Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension
    R Koehler
    Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany
    J Med Genet 41:e127. 2004
  8. ncbi Genes influencing Parkinson disease onset: replication of PARK3 and identification of novel loci
    N Pankratz
    Department of Medical and Molecular Genetics, Indiana University Medical Center, Indianapolis, IN, USA
    Neurology 62:1616-8. 2004
  9. ncbi Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency
    M Neerman-Arbez
    Department of Genetics and Microbiology, Division of Medical Genetics, University of Geneva Medical School, Switzerland
    Blood 93:2253-60. 1999
  10. ncbi Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII
    W C Nichols
    Department of Internal Medicine, University of Michigan, Ann Arbor 48109 0650, USA
    Cell 93:61-70. 1998

Collaborators

  • R C Trembath
  • Eng King Tan
  • D Donnai
  • C Klein
  • Eduardo Tolosa
  • V Bonifati
  • Martin Farlow
  • F Peyvandi
  • Uwe Walter
  • R J Uitti
  • D Berg
  • O A Ross
  • Marguerite Neerman-Arbez
  • T Foroud
  • M W Pauciulo
  • P M Conneally
  • N Pankratz
  • A Rudolph
  • R D Machado
  • J R Thomson
  • David K Simon
  • K Haugarvoll
  • C Shults
  • K Marder
  • C Halter
  • K B Lane
  • J E Loyd
  • L Wheeler
  • R Koehler
  • S K Uniacke
  • G G Levy
  • J A Phillips
  • N V Morgan
  • P Corris
  • G Mikhail
  • M Yacoub
  • P Rogers
  • M Humbert
  • J Newman
  • R Zweig
  • L Sudarsky
  • R Hauser
  • M Velickovic
  • S Isaacson
  • B Hutchinson
  • G Podskalny
  • T Derian
  • L Klassen
  • C Stone
  • G Huet
  • L Marlor
  • C Costan-Toth
  • S Morehouse
  • H Poiffaut
  • F Walker
  • A DiRocco
  • J Wojcieszek
  • K Williamson
  • K Davis
  • L Shulman
  • L Elmers
  • Ronald F Pfeiffer
  • C Hunter
  • A Lieberman
  • J Whetteckey
  • V Hunt
  • P Ryan
  • A Johnson
  • K Marek
  • M Jog
  • J Conway
  • L Swisher
  • K Price
  • P Gordon
  • D Simon
  • L Seeberger
  • M DeAngelis
  • B Estes
  • G Ross
  • T Tra
  • M Leehey
  • A Nieves
  • K Frei
  • P Becker
  • E Aiken
  • A Dalvi
  • C Allen
  • G Kleiner-Fisman
  • D Miracle
  • B Manyam

Detail Information

Publications16

  1. ncbi Maternal inheritance and mitochondrial DNA variants in familial Parkinson's disease
    David 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...
  2. ncbi Linkage stratification and mutation analysis at the Parkin locus identifies mutation positive Parkinson's disease families
    W C Nichols
    Division of Human Genetics, Children's Hospital Medical Center, Cincinnati, OH, USA
    J Med Genet 39:489-92. 2002
  3. ncbi Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease
    T 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...
  4. ncbi LRRK2 mutation analysis in Parkinson disease families with evidence of linkage to PARK8
    W 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...
  5. ncbi A mutation in myotilin causes spheroid body myopathy
    T 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...
  6. ncbi Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease
    K 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...
  7. ncbi Low frequency of BMPR2 mutations in a German cohort of patients with sporadic idiopathic pulmonary arterial hypertension
    R Koehler
    Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany
    J Med Genet 41:e127. 2004
  8. ncbi Genes influencing Parkinson disease onset: replication of PARK3 and identification of novel loci
    N 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...
  9. ncbi Molecular analysis of the ERGIC-53 gene in 35 families with combined factor V-factor VIII deficiency
    M 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...
  10. ncbi Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII
    W 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...
  11. ncbi Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura
    G 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...
  12. ncbi BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension
    R 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
    ....
  13. ncbi Sporadic primary pulmonary hypertension is associated with germline mutations of the gene encoding BMPR-II, a receptor member of the TGF-beta family
    J 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...
  14. ncbi Heterozygous germline mutations in BMPR2, encoding a TGF-beta receptor, cause familial primary pulmonary hypertension
    K 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...
  15. ncbi ERGIC-53 gene structure and mutation analysis in 19 combined factors V and VIII deficiency families
    W 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...
  16. ncbi A novel modifier gene for plasma von Willebrand factor level maps to distal mouse chromosome 11
    K 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...