Literature DB >> 6375355

Osteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagen.

D J Prockop.   

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Year:  1984        PMID： 6375355      PMCID： PMC1684455     

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  19 in total

1.  Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.

Authors:  J R Lichtenstein; G R Martin; L D Kohn; P H Byers; V A McKusick
Journal:  Science       Date:  1973-10-19       Impact factor: 47.728

2.  Biochemical heterogeneity of osteogenesis imperfecta: New variant.

Authors:  A C Nicholls; F M Pope; H Schloon
Journal:  Lancet       Date:  1979-06-02       Impact factor: 79.321

3.  Structure of the pro alpha 2 (I) collagen gene.

Authors:  J Wozney; D Hanahan; V Tate; H Boedtker; P Doty
Journal:  Nature       Date:  1981-11-12       Impact factor: 49.962

4.  Isolation and characterization of a 15-kilobase genomic sequence coding for part of the Pro alpha 2 chain of sheep type I collagen.

Authors:  C D Boyd; P Tolstoshev; M P Schafer; B C Trapnell; H C Coon; P J Kretschmer; A W Nienhuis; R G Crystal
Journal:  J Biol Chem       Date:  1980-04-10       Impact factor: 5.157

5.  Isolation and characterization of genomic DNA coding for alpha 2 type I collagen.

Authors:  G Vogeli; E V Avvedimento; M Sullivan; J V Maizel; G Lozano; S L Adams; I Pastan; B de Crombrugghe
Journal:  Nucleic Acids Res       Date:  1980-04-25       Impact factor: 16.971

6.  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

7.  Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta.

Authors:  G S Barsh; P H Byers
Journal:  Proc Natl Acad Sci U S A       Date:  1981-08       Impact factor: 11.205

8.  A defect in the structure of type I procollagen in a patient who had osteogenesis imperfecta: excess mannose in the COOH-terminal propeptide.

Authors:  L Peltonen; A Palotie; D J Prockop
Journal:  Proc Natl Acad Sci U S A       Date:  1980-10       Impact factor: 11.205

9.  Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta.

Authors:  R P Penttinen; J R Lichtenstein; G R Martin; V A McKusick
Journal:  Proc Natl Acad Sci U S A       Date:  1975-02       Impact factor: 11.205

10.  Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.

Authors:  B Steinmann; L Tuderman; L Peltonen; G R Martin; V A McKusick; D J Prockop
Journal:  J Biol Chem       Date:  1980-09-25       Impact factor: 5.157
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  9 in total

1.  Collagen defects in lethal perinatal osteogenesis imperfecta.

Authors:  J F Bateman; D Chan; T Mascara; J G Rogers; W G Cole
Journal:  Biochem J       Date:  1986-12-15       Impact factor: 3.857

2.  Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen.

Authors:  M Godfrey; D W Hollister
Journal:  Am J Hum Genet       Date:  1988-12       Impact factor: 11.025

3.  SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II.

Authors:  K Mackay; A M Lund; M Raghunath; B Steinmann; R Dalgleish
Journal:  Hum Genet       Date:  1993-06       Impact factor: 4.132

4.  Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I.

Authors:  G Wallis; P Beighton; C Boyd; C G Mathew
Journal:  J Med Genet       Date:  1986-10       Impact factor: 6.318

5.  Persistence of intracellular and extracellular changes after incompletely suppressing expression of the R789C (p.R989C) and R992C (p.R1192C) collagen II mutants.

Authors:  Deborah A Jensen; Andrzej Steplewski; Katarzyna Gawron; Andrzej Fertala
Journal:  Hum Mutat       Date:  2011-05-05       Impact factor: 4.878

6.  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

7.  Contemporary management of vascular complications associated with Ehlers-Danlos syndrome.

Authors:  Benjamin S Brooke; George Arnaoutakis; Nazli B McDonnell; James H Black
Journal:  J Vasc Surg       Date:  2009-10-30       Impact factor: 4.268

8.  Type I procollagen in the severe non-lethal form of osteogenesis imperfecta. Defective pro-alpha 1(I) chains in a patient with abnormal proteoglycan metabolism and mineral deposits in the dermis.

Authors:  R Tenni; G Cetta; K Dyne; A Rossi; D Quacci; L Lenzi; A A Castellani
Journal:  Hum Genet       Date:  1988-07       Impact factor: 4.132

9.  ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta.

Authors:  Thomas S Lisse; Frank Thiele; Helmut Fuchs; Wolfgang Hans; Gerhard K H Przemeck; Koichiro Abe; Birgit Rathkolb; Leticia Quintanilla-Martinez; Gabriele Hoelzlwimmer; Miep Helfrich; Eckhard Wolf; Stuart H Ralston; Martin Hrabé de Angelis
Journal:  PLoS Genet       Date:  2008-02       Impact factor: 5.917
  9 in total

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