SCOPUS 정보 검색 플랫폼

American Journal of Human Genetics

Volumn 70, Issue 6, 2002, Pages 1564-1567

Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation

(3) Verlaan, Dominique J a,b Siegel, Adrian M c Rouleau, Guy A a,b

a MONTREAL GENERAL HOSPITAL (Canada)

b MCGILL UNIVERSITY (Canada)

c UNIVERSITY HOSPITAL ZURICH (Switzerland)

Author keywords

[No Author keywords available]

Indexed keywords

RNA;

ARTICLE; AUTOSOMAL DISORDER; BRAIN MALFORMATION; CEREBRAL CAVERNOUS MALFORMATION; CLINICAL ARTICLE; DISEASE ASSOCIATION; FEMALE; FRAMESHIFT MUTATION; GENE; HUMAN; KRIT1 GENE; MALE; MISSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; RNA ANALYSIS; RNA SPLICING;

EID: 0036097023 PISSN: 00029297 EISSN: None Source Type: Journal
DOI: 10.1086/340604 Document Type: Article

Times cited : (48)

References (14)

1
- 7844247192
- Multilocus linkage identifies two new loci for a Mendelian form of stroke, cerebral cavernous malformation at 7p15-13 and 3q25.2-27
- (1998) Hum Mol Genet , vol.7 , pp. 1851-1858
- Craig, H.D.¹ Gunel, M.² Cepeda, O.³ Johnson, E.W.⁴ Ptacek, L.⁵ Steinberg, G.K.⁶ Ogilvy, C.S.⁷ Berg, M.J.⁸ Crawford, S.C.⁹ Scott, R.M.¹⁰ Steichen-Gersdorf, E.¹¹ Sabroe, R.¹² Kennedy, C.T.C.¹³ Mettler, G.¹⁴ Beis, M.J.¹⁵ Fryer, A.¹⁶ Awad, I.A.¹⁷ Lifton, R.P.¹⁸

2
- 0035957111
- CCM1 gene mutations in families segregating cerebral cavernous malformations
- (2001) Neurology , vol.56 , pp. 540-543
- Davenport, W.J.¹ Siegel, A.M.² Dichgans, J.³ Drigo, P.⁴ Mammi, I.⁵ Pereda, P.⁶ Wood, N.W.⁷ Rouleau, G.A.⁸

3
- 0028941797
- A gene responsible for cavernous malformations of the brain maps to chromosome 7q
- (1995) Hum Mol Genet , vol.4 , pp. 453-458
- Dubovsky, J.¹ Zabramski, J.M.² Kurth, J.³ Spetzler, R.F.⁴ Rick, S.S.⁵ Orr, H.T.⁶ Weber, J.L.⁷

4
- 0035895816
- Identification of eight novel 5′-exons in cerebral capillary malformation gene-1 (CCM1) encoding Krit1
- (2001) Biochim Biophys Acta , vol.1517 , pp. 464-467
- Eerola, I.¹ McIntyre, B.² Vikkula, M.³

5
- 0029020926
- Mapping a gene causing cerebral cavernous malformations to 7q11.2-921
- (1995) Proc Natl Acad Sci USA , vol.92 , pp. 6620-6624
- Günel, M.¹ Awad, I.A.² Anson, J.³ Lifton, R.P.⁴

6
- 0032851217
- Truncating mutations in CCM1, encoding KRIT1, cause hereditary cavernous angiomas
- (1999) Nat Genet , vol.23 , pp. 189-193
- Laberge-le Couteulx, S.¹ Jung, H.H.² Labauge, P.³ Houtteville, J.-P.⁴ Lescoat, C.⁵ Cecillon, M.⁶ Marechal, E.⁷ Joutel, A.⁸ Bach, J.-F.⁹ Tournier-Lasserve, E.¹⁰

7
- 0029122978
- A locus for cerebral cavernous malformations maps to chromosome 7q in two families
- (1995) Genomics , vol.28 , pp. 311-314
- Marchuk, D.A.¹ Gallione, C.J.² Morrison, L.A.³ Clericuzio, C.L.⁴ Hart, B.L.⁵ Kosofsky, B.E.⁶ Louis, D.N.⁷ Gusella, J.F.⁸ Davis, L.E.⁹ Prenger, V.L.¹⁰

8
- 0023820545
- Cerebral cavernous malformations: Incidence and familial occurrence
- (1988) N Engl J Med , vol.319 , pp. 343-347
- Rigamonti, D.¹ Hadley, M.N.² Drayer, B.P.³ Johnson, P.C.⁴ Hoenig-Rigamonti, K.⁵ Knight, J.T.⁶ Spetzler, R.F.⁷

9
- 84978359095
- Wiliams & Wilkins, Baltimore
- (1989) Pathology of tumors of the nervous system, 5th ed. , pp. 730-736
- Russell, D.S.¹ Rubenstein, L.J.²

10
- 0035145528
- Computational and experimental analyses reveal previously undetected coding exons of the Krit1 (CCM1) gene
- (2001) Genomics , vol.71 , pp. 123-126
- Sahoo, T.¹ Goenaga-Diaz, E.² Serebriiskii, I.G.³ Thomas, J.W.⁴ Kotova, E.⁵ Cuellar, J.G.⁶ Peloquin, J.M.⁷ Golemis, E.⁸ Beitinjaneh, F.⁹ Green, E.D.¹⁰ Johnson, E.W.¹¹ Marchuk, D.A.¹²

11
- 0032695959
- Mutations in the gene encoding KRIT1, a Krev-1/rap1a binding protein, causing cerebral cavernous malformations (CCM1)
- (1999) Hum Mol Genet , vol.8 , pp. 2325-2333
- Sahoo, T.¹ Johnson, E.W.² Thomas, J.W.³ Kuehl, P.M.⁴ Jones, T.L.⁵ Dokken, C.G.⁶ Touchman, J.W.⁷ Gallione, C.J.⁸ Lee-Lin, S.-Q.⁹ Kosofsky, B.¹⁰ Kurth, J.H.¹¹ Louis, D.N.¹² Mettler, G.¹³ Morrison, L.¹⁴ Gil-Nagel, A.¹⁵ Rich, S.S.¹⁶ Zabramski, J.M.¹⁷ Boguski, M.S.¹⁸ Green, E.D.¹⁹ Marchuk, D.A.²⁰ more..

12
- 0037177069
- Cerebral cavernous malformations: Mutations in Krit1
- (2002) Neurology , vol.58 , pp. 853-857
- Verlaan, D.J.¹ Davenport, W.J.² Stefan, H.³ Sure, U.⁴ Siegel, A.M.⁵ Rouleau, G.A.⁶

13
- 0035542933
- Interaction between krit1 and icap1α infers perturbation of integrin β1-mediated angiogenesis in the pathogenesis of cerebral cavernous malformation
- (2001) Hum Mol Genet , vol.10 , pp. 2953-2960
- Zhang, J.¹ Clatterbuck, R.E.² Rigamonti, D.³ Chang, D.D.⁴ Dietz, H.C.⁵

14
- 0034671077
- Cloning of the murine Krit1 cDNA reveals novel mammalian 5′ coding exons
- (2000) Genomics , vol.70 , pp. 392-395
- Zhang, J.¹ Clatterbuck, R.E.² Rigamonti, D.³ Dietz, H.C.⁴

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.