Literature DB >> 9399846

The Human Collagen Mutation Database 1998.

R Dalgleish1.   

Abstract

The collagens are a large and diverse family of proteins which are found in the extracellular matrix. In common with one another, the 19 known collagen types have triple-helical domains of variable length but they differ with respect to their overall size and the nature and location of their globular domains. Collagen mutations lead to heritable defects of connective tissues and mutation data for collagen types I and III are presented here. The mutation data are accessible on the world wide web at http://www.le.ac.uk/genetics/collagen/

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Year:  1998        PMID: 9399846      PMCID: PMC147171          DOI: 10.1093/nar/26.1.253

Source DB:  PubMed          Journal:  Nucleic Acids Res        ISSN: 0305-1048            Impact factor:   16.971


  18 in total

1.  Multiexon deletion in the procollagen III gene is associated with mild Ehlers-Danlos syndrome type IV.

Authors:  H Vissing; M D'Alessio; B Lee; F Ramirez; P H Byers; B Steinmann; A Superti-Furga
Journal:  J Biol Chem       Date:  1991-03-15       Impact factor: 5.157

Review 2.  The family of collagen genes.

Authors:  E Vuorio; B de Crombrugghe
Journal:  Annu Rev Biochem       Date:  1990       Impact factor: 23.643

Review 3.  Neurovascular manifestations of heritable connective tissue disorders. A review.

Authors:  W I Schievink; V V Michels; D G Piepgras
Journal:  Stroke       Date:  1994-04       Impact factor: 7.914

4.  Sequencing of cDNA from 50 unrelated patients reveals that mutations in the triple-helical domain of type III procollagen are an infrequent cause of aortic aneurysms.

Authors:  G Tromp; Y Wu; D J Prockop; S L Madhatheri; C Kleinert; J J Earley; J Zhuang; O Norrgård; R C Darling; W M Abbott
Journal:  J Clin Invest       Date:  1993-06       Impact factor: 14.808

Review 5.  Ehlers-Danlos syndrome type IV. Clinical and molecular aspects and guidelines for diagnosis and management.

Authors:  A De Paepe
Journal:  Dermatology       Date:  1994       Impact factor: 5.366

6.  Exclusion of mutations in the gene for type III collagen (COL3A1) as a common cause of intracranial aneurysms or cervical artery dissections: results from sequence analysis of the coding sequences of type III collagen from 55 unrelated patients.

Authors:  H Kuivaniemi; D J Prockop; Y Wu; S L Madhatheri; C Kleinert; J J Earley; A Jokinen; C Stolle; K Majamaa; V V Myllylä
Journal:  Neurology       Date:  1993-12       Impact factor: 9.910

7.  Partial isodisomy for maternal chromosome 7 and short stature in an individual with a mutation at the COL1A2 locus.

Authors:  L D Spotila; L Sereda; D J Prockop
Journal:  Am J Hum Genet       Date:  1992-12       Impact factor: 11.025

8.  Structure of cDNA clones coding for the entire prepro alpha 1 (III) chain of human type III procollagen. Differences in protein structure from type I procollagen and conservation of codon preferences.

Authors:  L Ala-Kokko; S Kontusaari; C T Baldwin; H Kuivaniemi; D J Prockop
Journal:  Biochem J       Date:  1989-06-01       Impact factor: 3.857

9.  Mutation analysis of coding sequences for type I procollagen in individuals with low bone density.

Authors:  L D Spotila; A Colige; L Sereda; C D Constantinou-Deltas; M P Whyte; B L Riggs; J L Shaker; T D Spector; E Hume; N Olsen
Journal:  J Bone Miner Res       Date:  1994-06       Impact factor: 6.741

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

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  76 in total

1.  A boy with blue sclera and recurrent fractures.

Authors:  N Md Shukri; I Mohamad; R Salim
Journal:  Malays Fam Physician       Date:  2015-04-30

2.  Role of genetic background in determining phenotypic severity throughout postnatal development and at peak bone mass in Col1a2 deficient mice (oim).

Authors:  Stephanie M Carleton; Daniel J McBride; William L Carson; Carolyn E Huntington; Kristin L Twenter; Kristin M Rolwes; Christopher T Winkelmann; J Steve Morris; Jeremy F Taylor; Charlotte L Phillips
Journal:  Bone       Date:  2008-01-05       Impact factor: 4.398

3.  Clinical utility gene card for: osteogenesis imperfecta.

Authors:  Fleur S van Dijk; Raymond Dalgleish; Fransiska Malfait; Alessandra Maugeri; Agnieszka Rusinska; Oliver Semler; Sofie Symoens; Gerard Pals
Journal:  Eur J Hum Genet       Date:  2012-09-26       Impact factor: 4.246

Review 4.  The collagen family.

Authors:  Sylvie Ricard-Blum
Journal:  Cold Spring Harb Perspect Biol       Date:  2011-01-01       Impact factor: 10.005

5.  Complex heterozygous WNT1 mutation in severe recessive osteogenesis imperfecta of a Chinese patient.

Authors:  Yanqin Lu; Yunzhang Dai; Yanzhou Wang; Naixiang Zhai; Jian Zhang; Junlong Liu; Xiaoli Yin; Tianyou Li; Xiuzhi Ren; Jinxiang Han
Journal:  Intractable Rare Dis Res       Date:  2018-02

Review 6.  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

7.  Genotype-phenotype correlations in nonlethal osteogenesis imperfecta caused by mutations in the helical domain of collagen type I.

Authors:  Frank Rauch; Liljana Lalic; Peter Roughley; Francis H Glorieux
Journal:  Eur J Hum Genet       Date:  2010-01-20       Impact factor: 4.246

8.  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

9.  Mutation and polymorphism spectrum in osteogenesis imperfecta type II: implications for genotype-phenotype relationships.

Authors:  Dale L Bodian; Ting-Fung Chan; Annie Poon; Ulrike Schwarze; Kathleen Yang; Peter H Byers; Pui-Yan Kwok; Teri E Klein
Journal:  Hum Mol Genet       Date:  2008-11-07       Impact factor: 6.150

10.  Collagen type III alpha I is a gastro-oesophageal reflux disease susceptibility gene and a male risk factor for hiatus hernia.

Authors:  B Asling; J Jirholt; P Hammond; M Knutsson; A Walentinsson; G Davidson; L Agreus; A Lehmann; M Lagerström-Fermer
Journal:  Gut       Date:  2009-04-26       Impact factor: 23.059

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