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44 in total

1. Substitution of arginine for glycine at position 847 in the triple-helical domain of the alpha 1 (I) chain of type I collagen produces lethal osteogenesis imperfecta. Molecules that contain one or two abnormal chains differ in stability and secretion.

Authors: G A Wallis; B J Starman; M F Schwartz; P H Byers
Journal: J Biol Chem Date: 1990-10-25 Impact factor: 5.157

2. Perinatal lethal osteogenesis imperfecta (OI type II): a biochemically heterogeneous disorder usually due to new mutations in the genes for type I collagen.

Authors: P H Byers; P Tsipouras; J F Bonadio; B J Starman; R C Schwartz
Journal: Am J Hum Genet Date: 1988-02 Impact factor: 11.025

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

Authors: C Genovese; D Rowe
Journal: Methods Enzymol Date: 1987 Impact factor: 1.600

4. A 19-base pair deletion in the pro-alpha 2(I) gene of type I procollagen that causes in-frame RNA splicing from exon 10 to exon 12 in a proband with atypical osteogenesis imperfecta and in his asymptomatic mother.

Authors: H Kuivaniemi; C Sabol; G Tromp; M Sippola-Thiele; D J Prockop
Journal: J Biol Chem Date: 1988-08-15 Impact factor: 5.157

5. Substitution of arginine for glycine 664 in the collagen alpha 1(I) chain in lethal perinatal osteogenesis imperfecta. Demonstration of the peptide defect by in vitro expression of the mutant cDNA.

Authors: J F Bateman; S R Lamande; H H Dahl; D Chan; W G Cole
Journal: J Biol Chem Date: 1988-08-25 Impact factor: 5.157

6. Homozygous osteogenesis imperfecta unlinked to collagen I genes.

Authors: K Aitchison; D Ogilvie; M Honeyman; E Thompson; B Sykes
Journal: Hum Genet Date: 1988-03 Impact factor: 4.132

7. Genetic heterogeneity in osteogenesis imperfecta.

Authors: D O Sillence; A Senn; D M Danks
Journal: J Med Genet Date: 1979-04 Impact factor: 6.318

8. Osteogenesis imperfecta type IIA: evidence for dominant inheritance.

Authors: I D Young; E M Thompson; C M Hall; M E Pembrey
Journal: J Med Genet Date: 1987-07 Impact factor: 6.318

9. Osteogenesis imperfecta: cloning of a pro-alpha 2(I) collagen gene with a frameshift mutation.

Authors: T Pihlajaniemi; L A Dickson; F M Pope; V R Korhonen; A Nicholls; D J Prockop; J C Myers
Journal: J Biol Chem Date: 1984-11-10 Impact factor: 5.157

10. The clinical features of homozygous alpha 2(I) collagen deficient osteogenesis imperfecta.

Authors: A C Nicholls; G Osse; H G Schloon; H G Lenard; S Deak; J C Myers; D J Prockop; W R Weigel; P Fryer; F M Pope
Journal: J Med Genet Date: 1984-08 Impact factor: 6.318

85 in total

1. A dominant mutation in the COL1A1 gene that substitutes glycine for valine causes recurrent lethal osteogenesis imperfecta.

Authors: J Bonaventure; L Cohen-Solal; C Lasselin; P Maroteaux
Journal: Hum Genet Date: 1992-08 Impact factor: 4.132

Review 2. Mapping structural landmarks, ligand binding sites, and missense mutations to the collagen IV heterotrimers predicts major functional domains, novel interactions, and variation in phenotypes in inherited diseases affecting basement membranes.

Authors: J Des Parkin; James D San Antonio; Vadim Pedchenko; Billy Hudson; Shane T Jensen; Judy Savige
Journal: Hum Mutat Date: 2011-02 Impact factor: 4.878

Review 3. 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

Review 4. Perinatal lethal osteogenesis imperfecta.

Authors: W G Cole; R Dalgleish
Journal: J Med Genet Date: 1995-04 Impact factor: 6.318

5. Kniest dysplasia is caused by dominant collagen II (COL2A1) mutations: parental somatic mosaicism manifesting as Stickler phenotype and mild spondyloepiphyseal dysplasia.

Authors: J Spranger; H Menger; S Mundlos; A Winterpacht; B Zabel
Journal: Pediatr Radiol Date: 1994

6. Differential response to intracellular stress in the skin from osteogenesis imperfecta Brtl mice with lethal and non lethal phenotype: a proteomic approach.

Authors: Laura Bianchi; Assunta Gagliardi; Roberta Gioia; Roberta Besio; Chiara Tani; Claudia Landi; Maria Cipriano; Anna Gimigliano; Antonio Rossi; Joan C Marini; Antonella Forlino; Luca Bini
Journal: J Proteomics Date: 2012-02-18 Impact factor: 4.044

7. Determination of the genomic structure of the COL4A4 gene and of novel mutations causing autosomal recessive Alport syndrome.

Authors: E Boye; G Mollet; L Forestier; L Cohen-Solal; L Heidet; P Cochat; J P Grünfeld; J B Palcoux; M C Gubler; C Antignac
Journal: Am J Hum Genet Date: 1998-11 Impact factor: 11.025

8. Osteogenesis imperfecta type III: mutations in the type I collagen structural genes, COL1A1 and COL1A2, are not necessarily responsible.

Authors: G A Wallis; B Sykes; P H Byers; C G Mathew; D Viljoen; P Beighton
Journal: J Med Genet Date: 1993-06 Impact factor: 6.318

9. Amino acid substitutions of conserved residues in the carboxyl-terminal domain of the alpha 1(X) chain of type X collagen occur in two unrelated families with metaphyseal chondrodysplasia type Schmid.

Authors: G A Wallis; B Rash; W A Sweetman; J T Thomas; M Super; G Evans; M E Grant; R P Boot-Handford
Journal: Am J Hum Genet Date: 1994-02 Impact factor: 11.025

10. Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.

Authors: A M Christiano; J A McGrath; K C Tan; J Uitto
Journal: Am J Hum Genet Date: 1996-04 Impact factor: 11.025