Similar articles for PMID: 8910493

Year	Number of Results
1984	2
1985	5
1986	1
1988	6
1989	7
1990	7
1991	8
1992	12
1993	15
1994	9
1995	8
1996	14
1997	9
1998	11
1999	5
2000	8
2001	6
2002	4
2003	3
2004	3
2006	1
2007	2
2008	7
2009	6
2010	3
2011	1
2012	2
2013	3
2014	3
2015	2
2016	2
2017	1
2018	1
2019	1
2020	3
2021	1
2022	5
2023	4
2024	0

1

Alternative splicing in COL1A1 mRNA leads to a partial null allele and two In-frame forms with structural defects in non-lethal osteogenesis imperfecta.

Wang Q, Forlino A, Marini JC. Wang Q, et al. J Biol Chem. 1996 Nov 8;271(45):28617-23. doi: 10.1074/jbc.271.45.28617. J Biol Chem. 1996. PMID: 8910493 Free article.

2

A 5' splice site mutation affecting the pre-mRNA splicing of two upstream exons in the collagen COL1A1 gene. Exon 8 skipping and altered definition of exon 7 generates truncated pro alpha 1(I) chains with a non-collagenous insertion destabilizing the triple helix.

Bateman JF, Chan D, Moeller I, Hannagan M, Cole WG. Bateman JF, et al. Biochem J. 1994 Sep 15;302 ( Pt 3)(Pt 3):729-35. doi: 10.1042/bj3020729. Biochem J. 1994. PMID: 7945197 Free PMC article.

3

Defective splicing of mRNA from one COL1A1 allele of type I collagen in nondeforming (type I) osteogenesis imperfecta.

Stover ML, Primorac D, Liu SC, McKinstry MB, Rowe DW. Stover ML, et al. J Clin Invest. 1993 Oct;92(4):1994-2002. doi: 10.1172/JCI116794. J Clin Invest. 1993. PMID: 8408653 Free PMC article.

4

Heterozygous mutation in the G+5 position of intron 33 of the pro-alpha 2(I) gene (COL1A2) that causes aberrant RNA splicing and lethal osteogenesis imperfecta. Use of carbodiimide methods that decrease the extent of DNA sequencing necessary to define an unusual mutation.

Ganguly A, Baldwin CT, Strobel D, Conway D, Horton W, Prockop DJ. Ganguly A, et al. J Biol Chem. 1991 Jun 25;266(18):12035-40. J Biol Chem. 1991. PMID: 1711048 Free article.

5

Splice site mutation causing deletion of exon 21 sequences from the pro alpha 2(I) chain of type I collagen in a patient with severe dentinogenesis imperfecta but very mild osteogenesis imperfecta.

Nicholls AC, Oliver J, McCarron S, Winter GB, Pope FM. Nicholls AC, et al. Hum Mutat. 1996;7(3):219-27. doi: 10.1002/(SICI)1098-1004(1996)7:3<219::AID-HUMU6>3.0.CO;2-5. Hum Mutat. 1996. PMID: 8829655

6

COL5A1 exon 14 splice acceptor mutation causes a functional null allele, haploinsufficiency of alpha 1(V) and abnormal heterotypic interstitial fibrils in Ehlers-Danlos syndrome II.

Bouma P, Cabral WA, Cole WG, Marini JC. Bouma P, et al. J Biol Chem. 2001 Apr 20;276(16):13356-64. doi: 10.1074/jbc.M011742200. Epub 2001 Jan 19. J Biol Chem. 2001. PMID: 11278977 Free article.

7

A de novo G+1-->A mutation at the alpha 2(I) exon 16 splice donor site causes skipping of exon 16 in the cDNA of one allele of an OI type IV proband.

Filie JD, Orrison BM, Wang Q, Lewis MB, Marini JC. Filie JD, et al. Hum Mutat. 1993;2(5):380-8. doi: 10.1002/humu.1380020510. Hum Mutat. 1993. PMID: 8257992

8

Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation.

Schwarze U, Starman BJ, Byers PH. Schwarze U, et al. Am J Hum Genet. 1999 Aug;65(2):336-44. doi: 10.1086/302512. Am J Hum Genet. 1999. PMID: 10417276 Free PMC article.

9

A base substitution at IVS-19 3'-end splice junction causes exon 20 skipping in pro alpha 2(I) collagen mRNA and produces mild osteogenesis imperfecta.

Mottes M, Sangalli A, Valli M, Forlino A, Gomez-Lira M, Antoniazzi F, Constantinou-Deltas CD, Cetta G, Pignatti PF. Mottes M, et al. Hum Genet. 1994 Jun;93(6):681-7. doi: 10.1007/BF00201570. Hum Genet. 1994. PMID: 8005592

10

Mutation producing alternative splicing of exon 26 in the COL1A2 gene causes type IV osteogenesis imperfecta with intrafamilial clinical variability.

Zolezzi F, Valli M, Clementi M, Mammi I, Cetta G, Pignatti PF, Mottes M. Zolezzi F, et al. Am J Med Genet. 1997 Aug 22;71(3):366-70. doi: 10.1002/(sici)1096-8628(19970822)71:3<366::aid-ajmg21>3.0.co;2-h. Am J Med Genet. 1997. PMID: 9268111

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