224 related articles for article (PubMed ID: 18653847)
1. Human CHN1 mutations hyperactivate alpha2-chimaerin and cause Duane's retraction syndrome.
Miyake N; Chilton J; Psatha M; Cheng L; Andrews C; Chan WM; Law K; Crosier M; Lindsay S; Cheung M; Allen J; Gutowski NJ; Ellard S; Young E; Iannaccone A; Appukuttan B; Stout JT; Christiansen S; Ciccarelli ML; Baldi A; Campioni M; Zenteno JC; Davenport D; Mariani LE; Sahin M; Guthrie S; Engle EC
Science; 2008 Aug; 321(5890):839-43. PubMed ID: 18653847
[TBL] [Abstract][Full Text] [Related]
2. The Rac-GAP alpha2-Chimaerin Signals via CRMP2 and Stathmins in the Development of the Ocular Motor System.
Carretero-Rodriguez L; Guðjónsdóttir R; Poparic I; Reilly ML; Chol M; Bianco IH; Chiapello M; Feret R; Deery MJ; Guthrie S
J Neurosci; 2021 Aug; 41(31):6652-6672. PubMed ID: 34168008
[TBL] [Abstract][Full Text] [Related]
3. Axon guidance in the developing ocular motor system and Duane retraction syndrome depends on Semaphorin signaling via alpha2-chimaerin.
Ferrario JE; Baskaran P; Clark C; Hendry A; Lerner O; Hintze M; Allen J; Chilton JK; Guthrie S
Proc Natl Acad Sci U S A; 2012 Sep; 109(36):14669-74. PubMed ID: 22912401
[TBL] [Abstract][Full Text] [Related]
4. Mutant α2-chimaerin signals via bidirectional ephrin pathways in Duane retraction syndrome.
Nugent AA; Park JG; Wei Y; Tenney AP; Gilette NM; DeLisle MM; Chan WM; Cheng L; Engle EC
J Clin Invest; 2017 May; 127(5):1664-1682. PubMed ID: 28346224
[TBL] [Abstract][Full Text] [Related]
5. α2-Chimaerin regulates a key axon guidance transition during development of the oculomotor projection.
Clark C; Austen O; Poparic I; Guthrie S
J Neurosci; 2013 Oct; 33(42):16540-51. PubMed ID: 24133258
[TBL] [Abstract][Full Text] [Related]
6. Expansion of the CHN1 strabismus phenotype.
Miyake N; Demer JL; Shaaban S; Andrews C; Chan WM; Christiansen SP; Hunter DG; Engle EC
Invest Ophthalmol Vis Sci; 2011 Aug; 52(9):6321-8. PubMed ID: 21715346
[TBL] [Abstract][Full Text] [Related]
7. Two novel CHN1 mutations in 2 families with Duane retraction syndrome.
Chan WM; Miyake N; Zhu-Tam L; Andrews C; Engle EC
Arch Ophthalmol; 2011 May; 129(5):649-52. PubMed ID: 21555619
[TBL] [Abstract][Full Text] [Related]
8. Analysis of the CHN1 gene in patients with various types of congenital ocular motility disorders.
Volk AE; Fricke J; Strobl J; Kolling G; Kubisch C; Neugebauer A
Graefes Arch Clin Exp Ophthalmol; 2010 Sep; 248(9):1351-7. PubMed ID: 20535495
[TBL] [Abstract][Full Text] [Related]
9. Clinical features associated with an I126M alpha2-chimaerin mutation in a family with autosomal-dominant Duane retraction syndrome.
Murillo-Correa CE; Kon-Jara V; Engle EC; Zenteno JC
J AAPOS; 2009 Jun; 13(3):245-8. PubMed ID: 19541263
[TBL] [Abstract][Full Text] [Related]
10. Ocular congenital cranial dysinnervation disorders (CCDDs): insights into axon growth and guidance.
Whitman MC; Engle EC
Hum Mol Genet; 2017 Aug; 26(R1):R37-R44. PubMed ID: 28459979
[TBL] [Abstract][Full Text] [Related]
11. Identification of a novel CHN1 p.(Phe213Val) variant in a large Han Chinese family with congenital Duane retraction syndrome.
Zhou TC; Duan WH; Fu XL; Zhu Q; Guo LY; Zhou Y; Hua ZJ; Li XJ; Yang DM; Zhang JY; Yin J; Zhang XF; Zhou GL; Hu M
Sci Rep; 2020 Oct; 10(1):16225. PubMed ID: 33004823
[TBL] [Abstract][Full Text] [Related]
12. RacGAP α2-chimaerin function in development adjusts cognitive ability in adulthood.
Iwata R; Ohi K; Kobayashi Y; Masuda A; Iwama M; Yasuda Y; Yamamori H; Tanaka M; Hashimoto R; Itohara S; Iwasato T
Cell Rep; 2014 Sep; 8(5):1257-64. PubMed ID: 25159148
[TBL] [Abstract][Full Text] [Related]
13. CHN1 and duane retraction syndrome: Expanding the phenotype to cranial nerves development disease.
Angelini C; Trimouille A; Arveiler B; Espil-Taris C; Ichinose N; Lasseaux E; Tourdias T; Lacombe D
Eur J Med Genet; 2021 Apr; 64(4):104188. PubMed ID: 33667650
[TBL] [Abstract][Full Text] [Related]
14. Spinal RacGAP α-Chimaerin Is Required to Establish the Midline Barrier for Proper Corticospinal Axon Guidance.
Katori S; Noguchi-Katori Y; Itohara S; Iwasato T
J Neurosci; 2017 Aug; 37(32):7682-7699. PubMed ID: 28747385
[TBL] [Abstract][Full Text] [Related]
15. CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome.
Miyake N; Andrews C; Fan W; He W; Chan WM; Engle EC
Am J Med Genet A; 2010 Jan; 152A(1):215-7. PubMed ID: 20034095
[No Abstract] [Full Text] [Related]
16. Developmental RacGAP α2-Chimaerin Signaling Is a Determinant of the Morphological Features of Dendritic Spines in Adulthood.
Iwata R; Matsukawa H; Yasuda K; Mizuno H; Itohara S; Iwasato T
J Neurosci; 2015 Oct; 35(40):13728-44. PubMed ID: 26446225
[TBL] [Abstract][Full Text] [Related]
17. Bilateral Duane's retraction syndrome. A clinical-pathologic case report.
Hotchkiss MG; Miller NR; Clark AW; Green WR
Arch Ophthalmol; 1980 May; 98(5):870-4. PubMed ID: 7378011
[TBL] [Abstract][Full Text] [Related]
18. MRI findings in Duane's ocular retraction syndrome.
Xia S; Li RL; Li YP; Qian XH; Chong V; Qi J
Clin Radiol; 2014 May; 69(5):e191-8. PubMed ID: 24631280
[TBL] [Abstract][Full Text] [Related]
19. Detailed magnetic resonance imaging findings of the ocular motor nerves in Duane's retraction syndrome.
Yonghong J; Kanxing Z; Zhenchang W; Xiao W; Xuehan Q; Fengyuan M; Wei L; Fanghua Z; Schramm NH
J Pediatr Ophthalmol Strabismus; 2009; 46(5):278-85; quiz 286-7. PubMed ID: 19791724
[TBL] [Abstract][Full Text] [Related]
20. Magnetic resonance imaging evidence for widespread orbital dysinnervation in dominant Duane's retraction syndrome linked to the DURS2 locus.
Demer JL; Clark RA; Lim KH; Engle EC
Invest Ophthalmol Vis Sci; 2007 Jan; 48(1):194-202. PubMed ID: 17197533
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
