148 related articles for article (PubMed ID: 11941540)
1. Krit1 missense mutations lead to splicing errors in cerebral cavernous malformation.
Verlaan DJ; Siegel AM; Rouleau GA
Am J Hum Genet; 2002 Jun; 70(6):1564-7. PubMed ID: 11941540
[TBL] [Abstract][Full Text] [Related]
2. Identification of Krit1B: a novel alternative splicing isoform of cerebral cavernous malformation gene-1.
Retta SF; Avolio M; Francalanci F; Procida S; Balzac F; Degani S; Tarone G; Silengo L
Gene; 2004 Jan; 325():63-78. PubMed ID: 14697511
[TBL] [Abstract][Full Text] [Related]
3. Identification of a Novel Deletion Mutation (c.1780delG) and a Novel Splice-Site Mutation (c.1412-1G>A) in the CCM1/KRIT1 Gene Associated with Familial Cerebral Cavernous Malformation in the Chinese Population.
Yang C; Zhao J; Wu B; Zhong H; Li Y; Xu Y
J Mol Neurosci; 2017 Jan; 61(1):8-15. PubMed ID: 27649701
[TBL] [Abstract][Full Text] [Related]
4. A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma.
Kitzmann AS; Pulido JS; Ferber MJ; Highsmith WE; Babovic-Vuksanovic D
Ophthalmic Genet; 2006 Dec; 27(4):157-9. PubMed ID: 17148043
[TBL] [Abstract][Full Text] [Related]
5. Cerebral cavernous malformations: mutations in Krit1.
Verlaan DJ; Davenport WJ; Stefan H; Sure U; Siegel AM; Rouleau GA
Neurology; 2002 Mar; 58(6):853-7. PubMed ID: 11914398
[TBL] [Abstract][Full Text] [Related]
6. Familial adenomatous polyposis: aberrant splicing due to missense or silent mutations in the APC gene.
Aretz S; Uhlhaas S; Sun Y; Pagenstecher C; Mangold E; Caspari R; Möslein G; Schulmann K; Propping P; Friedl W
Hum Mutat; 2004 Nov; 24(5):370-80. PubMed ID: 15459959
[TBL] [Abstract][Full Text] [Related]
7. Identification of two novel mutations and of a novel critical region in the KRIT1 gene.
Guarnieri V; Muscarella LA; Amoroso R; Quattrone A; Abate ME; Coco M; Catapano D; D'Angelo VA; Zelante L; D'Agruma L
Neurogenetics; 2007 Jan; 8(1):29-37. PubMed ID: 17043900
[TBL] [Abstract][Full Text] [Related]
8. Novel KRIT1/CCM1 mutation in a patient with retinal cavernous hemangioma and cerebral cavernous malformation.
Reddy S; Gorin MB; McCannel TA; Tsui I; Straatsma BR
Graefes Arch Clin Exp Ophthalmol; 2010 Sep; 248(9):1359-61. PubMed ID: 20306072
[TBL] [Abstract][Full Text] [Related]
9. Identification of a novel KRIT1 mutation in an Italian family with cerebral cavernous malformation by the protein truncation test.
Marini V; Ferrera L; Dorcaratto A; Viale G; Origone P; Mareni C; Garrè C
J Neurol Sci; 2003 Aug; 212(1-2):75-8. PubMed ID: 12810002
[TBL] [Abstract][Full Text] [Related]
10. Computational and experimental analyses reveal previously undetected coding exons of the KRIT1 (CCM1) gene.
Sahoo T; Goenaga-Diaz E; Serebriiskii IG; Thomas JW; Kotova E; Cuellar JG; Peloquin JM; Golemis E; Beitinjaneh F; Green ED; Johnson EW; Marchuk DA
Genomics; 2001 Jan; 71(1):123-6. PubMed ID: 11161805
[TBL] [Abstract][Full Text] [Related]
11. Novel human pathological mutations. Gene symbol: KRIT1. Disease: cerebral cavernous malformation.
Limaye N; Revencu N; Van Regemorter N; Garzon M; Bonduelle M; Chung W; Daras MD; Fahey MC; Garrett C; Gillerot Y; Gillessen-Kaesbach G; Giménez-Arnau A; Guzzetta F; Battaglia D; Heimdal K; Lissens W; Taub E; Van Maldergem L; Van Paesschen W; Wieczorek D; Wood NW; Boon L; Vikkula M
Hum Genet; 2007 Dec; 122(5):551. PubMed ID: 18383595
[No Abstract] [Full Text] [Related]
12. Human GC-AG alternative intron isoforms with weak donor sites show enhanced consensus at acceptor exon positions.
Thanaraj TA; Clark F
Nucleic Acids Res; 2001 Jun; 29(12):2581-93. PubMed ID: 11410667
[TBL] [Abstract][Full Text] [Related]
13. Identification of eight novel 5'-exons in cerebral capillary malformation gene-1 (CCM1) encoding KRIT1.
Eerola I; McIntyre B; Vikkula M
Biochim Biophys Acta; 2001 Feb; 1517(3):464-7. PubMed ID: 11342228
[TBL] [Abstract][Full Text] [Related]
14. Mutations in KRIT1 in familial cerebral cavernous malformations.
Zhang J; Clatterbuck RE; Rigamonti D; Dietz HC
Neurosurgery; 2000 May; 46(5):1272-7; discussion 1277-9. PubMed ID: 10807272
[TBL] [Abstract][Full Text] [Related]
15. Structural basis for the disruption of the cerebral cavernous malformations 2 (CCM2) interaction with Krev interaction trapped 1 (KRIT1) by disease-associated mutations.
Fisher OS; Liu W; Zhang R; Stiegler AL; Ghedia S; Weber JL; Boggon TJ
J Biol Chem; 2015 Jan; 290(5):2842-53. PubMed ID: 25525273
[TBL] [Abstract][Full Text] [Related]
16. Whole Exome Sequencing Reveals Novel PHEX Splice Site Mutations in Patients with Hypophosphatemic Rickets.
Ma SL; Vega-Warner V; Gillies C; Sampson MG; Kher V; Sethi SK; Otto EA
PLoS One; 2015; 10(6):e0130729. PubMed ID: 26107949
[TBL] [Abstract][Full Text] [Related]
17. Genetic variations within KRIT1/CCM1, MGC4607/CCM2 and PDCD10/CCM3 in a large Italian family harbouring a Krit1/CCM1 mutation.
Pileggi S; Buscone S; Ricci C; Patrosso MC; Marocchi A; Brunori P; Battistini S; Penco S
J Mol Neurosci; 2010 Oct; 42(2):235-42. PubMed ID: 20419355
[TBL] [Abstract][Full Text] [Related]
18. Molecular basis of recessive congenital methemoglobinemia, types I and II: Exon skipping and three novel missense mutations in the NADH-cytochrome b5 reductase (diaphorase 1) gene.
Kugler W; Pekrun A; Laspe P; Erdlenbruch B; Lakomek M
Hum Mutat; 2001 Apr; 17(4):348. PubMed ID: 11295830
[TBL] [Abstract][Full Text] [Related]
19. Computational analysis of splicing errors and mutations in human transcripts.
Kurmangaliyev YZ; Gelfand MS
BMC Genomics; 2008 Jan; 9():13. PubMed ID: 18194514
[TBL] [Abstract][Full Text] [Related]
20. Mutation prevalence of cerebral cavernous malformation genes in Spanish patients.
Mondéjar R; Solano F; Rubio R; Delgado M; Pérez-Sempere A; González-Meneses A; Vendrell T; Izquierdo G; Martinez-Mir A; Lucas M
PLoS One; 2014; 9(1):e86286. PubMed ID: 24466005
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
