Literature DB >> 3474490

Analysis of cytoplasmic and nuclear messenger RNA in fibroblasts from patients with type I osteogenesis imperfecta.

C Genovese, D Rowe.   

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Year:  1987        PMID： 3474490     DOI： 10.1016/0076-6879(87)45012-x

Source DB:  PubMed          Journal:  Methods Enzymol        ISSN： 0076-6879            Impact factor:   1.600


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  14 in total

1.  Reduction of target gene expression by a modified U1 snRNA.

Authors:  S A Beckley; P Liu; M L Stover; S I Gunderson; A C Lichtler; D W Rowe
Journal:  Mol Cell Biol       Date:  2001-04       Impact factor: 4.272

Review 2.  Osteogenesis imperfecta: translation of mutation to phenotype.

Authors:  P H Byers; G A Wallis; M C Willing
Journal:  J Med Genet       Date:  1991-07       Impact factor: 6.318

3.  Premature chain termination is a unifying mechanism for COL1A1 null alleles in osteogenesis imperfecta type I cell strains.

Authors:  M C Willing; S P Deschenes; R L Slayton; E J Roberts
Journal:  Am J Hum Genet       Date:  1996-10       Impact factor: 11.025

Review 4.  Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans.

Authors:  Joan C Marini; Antonella Forlino; Wayne A Cabral; Aileen M Barnes; James D San Antonio; Sarah Milgrom; James C Hyland; Jarmo Körkkö; Darwin J Prockop; Anne De Paepe; Paul Coucke; Sofie Symoens; Francis H Glorieux; Peter J Roughley; Alan M Lund; Kaija Kuurila-Svahn; Heini Hartikka; Daniel H Cohn; Deborah Krakow; Monica Mottes; Ulrike Schwarze; Diana Chen; Kathleen Yang; Christine Kuslich; James Troendle; Raymond Dalgleish; Peter H Byers
Journal:  Hum Mutat       Date:  2007-03       Impact factor: 4.878

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

Authors:  M L Stover; D Primorac; S C Liu; M B McKinstry; D W Rowe
Journal:  J Clin Invest       Date:  1993-10       Impact factor: 14.808

6.  Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen.

Authors:  M C Willing; C J Pruchno; M Atkinson; P H Byers
Journal:  Am J Hum Genet       Date:  1992-09       Impact factor: 11.025

7.  Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I.

Authors:  M C Willing; D H Cohn; P H Byers
Journal:  J Clin Invest       Date:  1990-01       Impact factor: 14.808

8.  Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta.

Authors:  R J Wenstrup; M C Willing; B J Starman; P H Byers
Journal:  Am J Hum Genet       Date:  1990-05       Impact factor: 11.025

9.  Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen.

Authors:  M C Willing; S P Deschenes; D A Scott; P H Byers; R L Slayton; S H Pitts; H Arikat; E J Roberts
Journal:  Am J Hum Genet       Date:  1994-10       Impact factor: 11.025

10.  Absence of mutations in the promoter of the COL1A1 gene of type I collagen in patients with osteogenesis imperfecta type I.

Authors:  M C Willing; R L Slayton; S H Pitts; S P Deschenes
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318
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