E
Eric W. Johnson
Researcher at Barrow Neurological Institute
Publications - 12
Citations - 1874
Eric W. Johnson is an academic researcher from Barrow Neurological Institute. The author has contributed to research in topics: Haplotype & Gene. The author has an hindex of 12, co-authored 12 publications receiving 1751 citations. Previous affiliations of Eric W. Johnson include St. Joseph Hospital.
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Journal ArticleDOI
Mutations in the Gene Encoding KRIT1, a Krev-1/rap1a Binding Protein, Cause Cerebral Cavernous Malformations (CCM1)
Trilochan Sahoo,Eric W. Johnson,James W. Thomas,Peter M. Kuehl,Thomas L. Jones,Charles G. Dokken,Jeffrey W. Touchman,Carol J. Gallione,Shih-Queen Lee-Lin,Barry E. Kosofsky,Janice H. Kurth,David N. Louis,Gabrielle Mettler,Leslie Morrison,Antonio Gil-Nagel,Steven S Rich,Joseph M. Zabramski,Mark S. Boguski,EricD. Green,Douglas A. Marchuk +19 more
TL;DR: Identification of a common Mexican-American mutation has potential clinical significance for presymptomatic diagnosis of CCM in this population and data point to a key role for the Krev-1/rap1a signaling pathway in angiogenesis and cerebrovascular disease.
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Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15–13 and 3q25.2–27
H. D. Craig,Murat Gunel,Murat Gunel,O. Cepeda,Eric W. Johnson,Louis J. Ptáček,Gary K. Steinberg,Christopher S. Ogilvy,Michel J. Berg,S. C. Crawford,R. M. Scott,E. Steichen-Gersdorf,R. Sabroe,Cameron T. C. Kennedy,Gabrielle Mettler,M. J. Beis,A. Fryer,Issam A. Awad,Richard P. Lifton,Richard P. Lifton +19 more
TL;DR: Analysis of linkage in 20 non-Hispanic Caucasian kindreds with familial CCM demonstrates linkage to two new loci, CCM2 at 7p13-15 and CCM3 at 3q25, which can account for inheritance of CCM in all kindreds studied.
Journal ArticleDOI
Mutations in a Gene Encoding a Novel Protein Containing a Phosphotyrosine-Binding Domain Cause Type 2 Cerebral Cavernous Malformations
Christina L. Liquori,Michel J. Berg,Adrian M. Siegel,Elizabeth Huang,Jon S. Zawistowski,T’Prien Stoffer,Dominique J. Verlaan,Fiyinfolu Balogun,Lori Hughes,Tracey P. Leedom,Nicholas W. Plummer,Milena Cannella,Vittorio Maglione,Ferdinando Squitieri,Eric W. Johnson,Guy A. Rouleau,Louis J. Ptáček,Douglas A. Marchuk +17 more
TL;DR: A novel gene, MGC4607, exhibits eight different mutations in nine families with type 2 CCM (CCM2), similar to the KRIT1 binding partner ICAP1alpha, and may be part of the complex pathway of integrin signaling that causes abnormal vascular morphogenesis in the brain, leading to CCM formation.
Journal ArticleDOI
Biallelic somatic and germline mutations in cerebral cavernous malformations (CCMs): evidence for a two-hit mechanism of CCM pathogenesis
TL;DR: Biallelic germline and somatic mutations were identified in CCM lesions from all three forms of inherited CCMs, and data suggest that CCM lesion genesis requires complete loss of function for one of the CCM genes.
Journal ArticleDOI
A spectrum of ABCC6 mutations is responsible for pseudoxanthoma elasticum
Olivier Le Saux,Konstanze Beck,Christine Sachsinger,Chiara Silvestri,Carina Treiber,Harald H H Göring,Eric W. Johnson,Anne De Paepe,F. Michael Pope,I. Pasquali-Ronchetti,Lionel Bercovitch,Sharon F. Terry,Charles D. Boyd +12 more
TL;DR: A mutational analysis of ATP-binding cassette subfamily C member 6 (ABCC6) in 122 unrelated patients with PXE revealed a cluster of disease-causing variants within exons encoding a large C-terminal cytoplasmic loop and in the NBD2 domain.