J
Jeffery M. Vance
Researcher at University of Miami
Publications - 347
Citations - 28867
Jeffery M. Vance is an academic researcher from University of Miami. The author has contributed to research in topics: Genetic linkage & Gene. The author has an hindex of 86, co-authored 307 publications receiving 26587 citations. Previous affiliations of Jeffery M. Vance include Duke University & John P. Hussman Institute for Human Genomics.
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Journal ArticleDOI
Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A.
Stephan Züchner,Stephan Züchner,Irina V. Mersiyanova,Maria Muglia,Nisrine Bissar-Tadmouri,Nisrine Bissar-Tadmouri,Julie M. Rochelle,Elena L. Dadali,Mario Zappia,Eva Nelis,Alessandra Patitucci,Jan Senderek,Yesim Parman,Oleg V. Evgrafov,Peter De Jonghe,Yuji Takahashi,Shoij Tsuji,Margaret A. Pericak-Vance,Aldo Quattrone,Esra Battologlu,Alexander V. Polyakov,Vincent Timmerman,J. Michael Schröder,Jeffery M. Vance +23 more
TL;DR: It is concluded that the primary gene mutated in CMT2A is MFN2, and seven large pedigrees affected with Charcot-Marie-Tooth neuropathy type 2A are concluded.
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The Deacetylase HDAC6 Regulates Aggresome Formation and Cell Viability in Response to Misfolded Protein Stress
Yoshiharu Kawaguchi,Jeffrey J. Kovacs,Adam C. McLaurin,Jeffery M. Vance,Akihiro Ito,Tso-Pang Yao +5 more
TL;DR: It is shown that cells deficient in HDAC6 fail to clear misfolded protein aggregates from the cytoplasm, cannot form aggresomes properly, and are hypersensitive to the accumulation of misfolding proteins.
Journal ArticleDOI
A Mutation in the TRPC6 Cation Channel Causes Familial Focal Segmental Glomerulosclerosis
Michelle P. Winn,Peter J. Conlon,Kelvin L. Lynn,Merry Kay Farrington,Tony Creazzo,April F. Hawkins,Nikki Daskalakis,Shu Ying Kwan,Seth M. Ebersviller,James L. Burchette,Margaret A. Pericak-Vance,David N. Howell,Jeffery M. Vance,Paul B. Rosenberg +13 more
TL;DR: In this article, a large family with hereditary FSGS carries a missense mutation in the TRPC6 gene on chromosome 11q, encoding the ion-channel protein transient receptor potential cation channel 6 (TRPC6).
Journal ArticleDOI
PGC-1α, A Potential Therapeutic Target for Early Intervention in Parkinson’s Disease
Bin Zheng,Zhixiang Liao,Joseph J. Locascio,Kristen A. Lesniak,Sarah S. Roderick,Marla L. Watt,Aron Charles Eklund,Aron Charles Eklund,Yanli Zhang-James,Peter D. Kim,Michael A. Hauser,Edna Grünblatt,Linda B. Moran,Silvia Mandel,Peter Riederer,Renee M. Miller,Howard J. Federoff,Ullrich Wüllner,Spyridon Papapetropoulos,Moussa B.H. Youdim,Moussa B.H. Youdim,Ippolita Cantuti-Castelvetri,Anne B. Young,Jeffery M. Vance,Richard L. Davis,John C. Hedreen,Charles H. Adler,Thomas G. Beach,Manuel B. Graeber,Frank A. Middleton,Jean-Christophe Rochet,Clemens R. Scherzer,Clemens R. Scherzer +32 more
TL;DR: A genome-wide meta-analysis of gene sets (groups of genes that encode the same biological pathway or process) in 410 samples from patients with symptomatic Parkinson’s and subclinical disease and healthy controls identified 10 gene sets that were all associated with PD.
Journal ArticleDOI
Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: the PDGene database.
Christina M. Lill,Johannes T. Roehr,Johannes T. Roehr,Matthew B. McQueen,Fotini K. Kavvoura,Fotini K. Kavvoura,Fotini K. Kavvoura,Sachin Bagade,Brit-Maren M. Schjeide,Leif M. Schjeide,Esther Meissner,Ute Zauft,Nicole C. Allen,Tian-Jing Liu,Marcel Schilling,Marcel Schilling,Kari J. Anderson,Gary W. Beecham,Daniela Berg,Daniela Berg,Joanna M. Biernacka,Alexis Brice,Anita L. DeStefano,Chuong B. Do,Nicholas Eriksson,Stewart A. Factor,Matthew J. Farrer,Tatiana Foroud,Thomas Gasser,Thomas Gasser,Taye H. Hamza,John Hardy,Peter Heutink,Erin M. Hill-Burns,Christine Klein,Jeanne C. Latourelle,Demetrius M. Maraganore,Eden R. Martin,Maria Martinez,Maria Martinez,Richard H. Myers,Mike A. Nalls,Nathan Pankratz,Haydeh Payami,Wataru Satake,William K. Scott,Manu Sharma,Manu Sharma,Andrew B. Singleton,Kari Stefansson,Tatsushi Toda,Joyce Y. Tung,Jeffery M. Vance,Nicholas W. Wood,Cyrus P. Zabetian,Peter Young,Rudolph E. Tanzi,Muin J. Khoury,Frauke Zipp,Hans Lehrach,John P. A. Ioannidis,Lars Bertram,Lars Bertram +62 more
TL;DR: This study provides an exhaustive and up-to-date summary of the status of PD genetics research that can be readily scaled to include the results of future large-scale genetics projects, including next-generation sequencing studies.