Scopus
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)
Nature Genetics · Aralık 2003
Makale Bilgileri
DergiNature Genetics
Yayın TarihiAralık 2003
Cilt / Sayfa35 · 318-321
Scopus ID2-s2.0-0344826532
Özet
Congenital fibrosis of the extraocular muscles type 1 (CFFOM1; OMIM #135700) is an autosomal dominant strabismus disorder associated with defects of the oculomotor nerve. We show that individuals with CFEOM1 harbor heterozygous missense mutations in a kinesin motor protein encoded by KIF21A. We identified six different mutations in 44 of 45 probands. The primary mutational hotspots are in the stalk domain, highlighting an important new role for KIF21A and its stalk in the formation of the oculomotor axis.
Yazarlar (45)
1
Koki Yamada
2
Caroline Andrews
3
Wai Man Chan
4
Craig A. McKeown
5
Adriano Magli
6
Teresa De Berardinis
7
Anat Loewenstein
8
Moshe Lazar
9
Michael O'Keefe
10
Robert Letson
11
Arnold London
12
Mark Ruttum
13
Naomichi Matsumoto
14
Nakamichi Saito
15
Lisa Morris
16
Monte Del Monte
17
Roger H. Johnson
18
Eiichiro Uyama
19
Willem A. Houtman
20
Berendina De Vries
21
Thomas J. Carlow
22
Blaine L. Hart
23
Nicolas Krawiecki
24
John Shoffner
25
Marlene C. Vogel
26
James Katowitz
27
Scott M. Goldstein
28
Alex V. Levin
29
Emin Cumhur Sener
30
Banu Turgut Ozturk
ORCID: 0000-0003-0702-6951
31
A. Nurten Akarsu
32
Michael C. Brodsky
33
Frank Hanisch
34
Robert P. Cruse
35
Alina A. Zubcov
36
Richard M. Robb
37
Peter Roggenkäemper
38
Irene Gottlob
39
Lionel Kowal
40
Ravi Battu
41
Elias I. Traboulsi
42
Piergiorgio Franceschini
43
Anna Newlin
44
Joseph L. Demer
45
Elizabeth C. Engle
Kurumlar
Aspen Medical Group
Minneapolis United States
Bascom Palmer Eye Institute
Miami United States
Baylor College of Medicine
Houston United States
Boston Children's Hospital
Boston United States
Children's Hospital
Dublin Ireland
Cleveland Clinic Foundation
Cleveland United States
Emory University School of Medicine
Atlanta United States
Hacettepe Üniversitesi
Ankara Turkey
Harvard Medical School
Boston United States
Horizon Molecular Medicine
Atlanta United States
Hospital de Niños Roberto del Río
Santiago Chile
Kumamoto University School of Medicine
Kumamoto Japan
Martin-Luther-Universität Halle-Wittenberg
Halle Germany
Medical College of Wisconsin
Milwaukee United States
Nagasaki University
Nagasaki Japan
Shin-Koga Hospital
Kurume Japan
St. John's National Academy Of Health Sciences India
Bengaluru India
Tel Aviv University
Tel Aviv-Yafo Israel
The Children's Hospital of Philadelphia
Philadelphia United States
The Hospital for Sick Children
Toronto Canada
UCLA Stein Eye Institute
Los Angeles United States
Università degli Studi di Napoli Federico II, Facoltà di Medicina e Chirurgia
Naples Italy
Università degli Studi di Torino
Turin Italy
Universitair Medisch Centrum Groningen
Groningen Netherlands
Universitätsklinikum Bonn
Bonn Germany
Universitätsklinikum Frankfurt
Frankfurt am Main Germany
University of Arkansas at Little Rock
Little Rock United States
University of Illinois at Chicago
Chicago United States
University of Leicester
Leicester United Kingdom
University of Melbourne
Melbourne Australia
University of Michigan W.K. Kellogg Eye Center
Ann Arbor United States
University of Minnesota Twin Cities
Minneapolis United States
University of Washington School of Medicine
Seattle United States
UNM School of Medicine
Albuquerque United States
Metrikler
244
Atıf
45
Yazar