Literature DB >> 8533783

Urinary pyridinoline cross-links in Ehlers-Danlos syndrome type VI.

B Steinmann, D R Eyre, P Shao.   

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Year:  1995        PMID: 8533783      PMCID: PMC1801424     

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


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  11 in total

1.  Changes with age in the urinary excretion of lysyl- and hydroxylysylpyridinoline, two new markers of bone collagen turnover.

Authors:  L J Beardsworth; D R Eyre; I R Dickson
Journal:  J Bone Miner Res       Date:  1990-07       Impact factor: 6.741

2.  Collagen cross-linking amino acids.

Authors:  D Eyre
Journal:  Methods Enzymol       Date:  1987       Impact factor: 1.600

3.  Urinary pyridinium cross-links: a noninvasive diagnostic test for Ehlers-Danlos syndrome type VI.

Authors:  M Pasquali; P P Dembure; M J Still; L J Elsas
Journal:  N Engl J Med       Date:  1994-07-14       Impact factor: 91.245

4.  A large duplication in the gene for lysyl hydroxylase accounts for the type VI variant of Ehlers-Danlos syndrome in two siblings.

Authors:  T Hautala; J Heikkinen; K I Kivirikko; R Myllylä
Journal:  Genomics       Date:  1993-02       Impact factor: 5.736

5.  Evaluation of urinary hydroxypyridinium crosslink measurements as resorption markers in metabolic bone diseases.

Authors:  S P Robins; D Black; C R Paterson; D M Reid; A Duncan; M J Seibel
Journal:  Eur J Clin Invest       Date:  1991-06       Impact factor: 4.686

6.  Bone resorption rates in children monitored by the urinary assay of collagen type I cross-linked peptides.

Authors:  A M Bollen; D R Eyre
Journal:  Bone       Date:  1994 Jan-Feb       Impact factor: 4.398

7.  A homozygous stop codon in the lysyl hydroxylase gene in two siblings with Ehlers-Danlos syndrome type VI.

Authors:  J Hyland; L Ala-Kokko; P Royce; B Steinmann; K I Kivirikko; R Myllylä
Journal:  Nat Genet       Date:  1992-11       Impact factor: 38.330

8.  A specific immunoassay for monitoring human bone resorption: quantitation of type I collagen cross-linked N-telopeptides in urine.

Authors:  D A Hanson; M A Weis; A M Bollen; S L Maslan; F R Singer; D R Eyre
Journal:  J Bone Miner Res       Date:  1992-11       Impact factor: 6.741

9.  Comparison of new biochemical markers of bone turnover in late postmenopausal osteoporotic women in response to alendronate treatment.

Authors:  P Garnero; W J Shih; E Gineyts; D B Karpf; P D Delmas
Journal:  J Clin Endocrinol Metab       Date:  1994-12       Impact factor: 5.958

10.  Tendon hypertrophy is associated with increased hydroxylation of nonhelical lysine residues at two specific cross-linking sites in type I collagen.

Authors:  J E Gerriets; S L Curwin; J A Last
Journal:  J Biol Chem       Date:  1993-12-05       Impact factor: 5.157

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  36 in total

1.  Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17.

Authors:  R A Bank; S P Robins; C Wijmenga; L J Breslau-Siderius; A F Bardoel; H A van der Sluijs; H E Pruijs; J M TeKoppele
Journal:  Proc Natl Acad Sci U S A       Date:  1999-02-02       Impact factor: 11.205

2.  Molecular Consequences of the SERPINH1/HSP47 Mutation in the Dachshund Natural Model of Osteogenesis Imperfecta.

Authors:  Uschi Lindert; Mary Ann Weis; Jyoti Rai; Frank Seeliger; Ingrid Hausser; Tosso Leeb; David Eyre; Marianne Rohrbach; Cecilia Giunta
Journal:  J Biol Chem       Date:  2015-05-24       Impact factor: 5.157

Review 3.  Ehlers-Danlos syndrome has varied molecular mechanisms.

Authors:  F M Pope; N P Burrows
Journal:  J Med Genet       Date:  1997-05       Impact factor: 6.318

4.  Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss.

Authors:  Matthias Baumann; Cecilia Giunta; Birgit Krabichler; Franz Rüschendorf; Nicoletta Zoppi; Marina Colombi; Reginald E Bittner; Susana Quijano-Roy; Francesco Muntoni; Sebahattin Cirak; Gudrun Schreiber; Yaqun Zou; Ying Hu; Norma Beatriz Romero; Robert Yves Carlier; Albert Amberger; Andrea Deutschmann; Volker Straub; Marianne Rohrbach; Beat Steinmann; Kevin Rostásy; Daniela Karall; Carsten G Bönnemann; Johannes Zschocke; Christine Fauth
Journal:  Am J Hum Genet       Date:  2012-01-19       Impact factor: 11.025

5.  A substrate preference for the rough endoplasmic reticulum resident protein FKBP22 during collagen biosynthesis.

Authors:  Yoshihiro Ishikawa; Hans Peter Bächinger
Journal:  J Biol Chem       Date:  2014-05-12       Impact factor: 5.157

Review 6.  The Ehlers-Danlos syndromes.

Authors:  Fransiska Malfait; Marco Castori; Clair A Francomano; Cecilia Giunta; Tomoki Kosho; Peter H Byers
Journal:  Nat Rev Dis Primers       Date:  2020-07-30       Impact factor: 52.329

7.  Mutations in PRDM5 in brittle cornea syndrome identify a pathway regulating extracellular matrix development and maintenance.

Authors:  Emma M M Burkitt Wright; Helen L Spencer; Sarah B Daly; Forbes D C Manson; Leo A H Zeef; Jill Urquhart; Nicoletta Zoppi; Richard Bonshek; Ioannis Tosounidis; Meyyammai Mohan; Colm Madden; Annabel Dodds; Kate E Chandler; Siddharth Banka; Leon Au; Jill Clayton-Smith; Naz Khan; Leslie G Biesecker; Meredith Wilson; Marianne Rohrbach; Marina Colombi; Cecilia Giunta; Graeme C M Black
Journal:  Am J Hum Genet       Date:  2011-06-10       Impact factor: 11.025

8.  Hypoxia-inducible factor 1 (HIF-1) promotes extracellular matrix remodeling under hypoxic conditions by inducing P4HA1, P4HA2, and PLOD2 expression in fibroblasts.

Authors:  Daniele M Gilkes; Saumendra Bajpai; Pallavi Chaturvedi; Denis Wirtz; Gregg L Semenza
Journal:  J Biol Chem       Date:  2013-02-19       Impact factor: 5.157

Review 9.  Bone Turnover Markers in the Diagnosis and Monitoring of Metabolic Bone Disease.

Authors:  Matthew B Greenblatt; Joy N Tsai; Marc N Wein
Journal:  Clin Chem       Date:  2016-12-09       Impact factor: 8.327

10.  Procollagen lysyl hydroxylase 2 is essential for hypoxia-induced breast cancer metastasis.

Authors:  Daniele M Gilkes; Saumendra Bajpai; Carmen C Wong; Pallavi Chaturvedi; Maimon E Hubbi; Denis Wirtz; Gregg L Semenza
Journal:  Mol Cancer Res       Date:  2013-02-01       Impact factor: 5.852

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