Literature DB >> 8435181

Human gene mutations affecting RNA processing and translation.

D N Cooper1.   

Abstract

Gene mutations affecting mRNA processing and translation are not common causes of human genetic disease. Their analysis has nevertheless provided important insights into the basic biochemical mechanisms underlying mRNA transcription and translation.

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Year:  1993        PMID： 8435181     DOI： 10.3109/07853899309147851

Source DB:  PubMed          Journal:  Ann Med        ISSN： 0785-3890            Impact factor:   4.709


  9 in total

1.  Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype.

Authors:  A M Christiano; I Anton-Lamprecht; S Amano; U Ebschner; R E Burgeson; J Uitto
Journal:  Am J Hum Genet       Date:  1996-04       Impact factor: 11.025

2.  Mutations to nonsense codons in human genetic disease: implications for gene therapy by nonsense suppressor tRNAs.

Authors:  J Atkinson; R Martin
Journal:  Nucleic Acids Res       Date:  1994-04-25       Impact factor: 16.971

3.  A family with complement factor D deficiency.

Authors:  D H Biesma; A J Hannema; H van Velzen-Blad; L Mulder; R van Zwieten; I Kluijt; D Roos
Journal:  J Clin Invest       Date:  2001-07       Impact factor: 14.808

Review 4.  Molecular complexity of the cutaneous basement membrane zone.

Authors:  J Uitto; L Pulkkinen
Journal:  Mol Biol Rep       Date:  1996       Impact factor: 2.316

5.  Detection of novel LAMC2 mutations in Herlitz junctional epidermolysis Bullosa.

Authors:  L Pulkkinen; J McGrath; T Airenne; H Haakana; K Tryggvason; S Kivirikko; G Meneguzzi; J P Ortonne; A M Christiano; J Uitto
Journal:  Mol Med       Date:  1997-02       Impact factor: 6.354

6.  A nonsense mutation in the erythrocyte band 3 gene associated with decreased mRNA accumulation in a kindred with dominant hereditary spherocytosis.

Authors:  P B Jenkins; G K Abou-Alfa; D Dhermy; E Bursaux; C Féo; A L Scarpa; S E Lux; M Garbarz; B G Forget; P G Gallagher
Journal:  J Clin Invest       Date:  1996-01-15       Impact factor: 14.808

7.  Nuclear degradation of nonsense mutated beta-globin mRNA: a post-transcriptional mechanism to protect heterozygotes from severe clinical manifestations of beta-thalassemia?

Authors:  W Kugler; J Enssle; M W Hentze; A E Kulozik
Journal:  Nucleic Acids Res       Date:  1995-02-11       Impact factor: 16.971

8.  Initiation codon mutation in betaB1-crystallin (CRYBB1) associated with autosomal recessive nuclear pulverulent cataract.

Authors:  Esther Meyer; Fatimah Rahman; Jessica Owens; Shanaz Pasha; Neil V Morgan; Richard C Trembath; Edwin M Stone; Anthony T Moore; Eamonn R Maher
Journal:  Mol Vis       Date:  2009-05-18       Impact factor: 2.367

Review 9.  Determinants of translational fidelity and efficiency in vertebrate mRNAs.

Authors:  M Kozak
Journal:  Biochimie       Date:  1994       Impact factor: 4.079
  9 in total

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