(Q28282010)

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Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders

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scholarly article

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Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders (English)

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connective tissue

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inferred from title

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5

object named as

Peter H Byers

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author name string

Anton V Persikov

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Rian J Pillitteri

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Priyal Amin

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Ulrike Schwarze

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Barbara Brodsky

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language of work or name

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publication date

October 2004

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24

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4

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330-7

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Substitutions of aspartic acid for glycine-220 and of arginine for glycine-664 in the triple helix of the pro alpha 1(I) chain of type I procollagen produce lethal osteogenesis imperfecta and disrupt the ability of collagen fibrils to incorporate cr

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https://api.crossref.org/works/10.1002%2FHUMU.20091

21 January 2018

Folding of peptide models of collagen and misfolding in disease

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Destabilization of osteogenesis imperfecta collagen-like model peptides correlates with the identity of the residue replacing glycine

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Crystal and molecular structure of a collagen-like peptide at 1.9 A resolution

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II

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https://api.crossref.org/works/10.1002%2FHUMU.20091

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Hereditary skin diseases of anchoring fibrils

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https://api.crossref.org/works/10.1002%2FHUMU.20091

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Folding defects in fibrillar collagens

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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The human type I collagen mutation database

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https://api.crossref.org/works/10.1002%2FHUMU.20091

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The Human Collagen Mutation Database 1998.

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Characterization of disease-associated single amino acid polymorphisms in terms of sequence and structure properties.

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Alport's syndrome

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https://api.crossref.org/works/10.1002%2FHUMU.20091

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Characterization of 11 new mutations in COL3A1 of individuals with Ehlers-Danlos syndrome type IV: preliminary comparison of RNase cleavage, EMC and DHPLC assays

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Age- and genotype-dependence of bone material properties in the osteogenesis imperfecta murine model (oim).

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Amino acid difference formula to help explain protein evolution

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Wide variations in neighbor-dependent substitution rates.

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Alport's syndrome, Goodpasture's syndrome, and type IV collagen.

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Neighboring-nucleotide effects on the rates of germ-line single-base-pair substitution in human genes

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Mutations in fibrillar collagens (types I, II, III, and XI), fibril-associated collagen (type IX), and network-forming collagen (type X) cause a spectrum of diseases of bone, cartilage, and blood vessels

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Characterization of collagen-like peptides containing interruptions in the repeating Gly-X-Y sequence

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Collagens and collagen-related diseases

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Collagens, modifying enzymes and their mutations in humans, flies and worms

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Predicting deleterious amino acid substitutions

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Collagen model peptides: Sequence dependence of triple-helix stability

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Heritable diseases of collagen

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Osteogenesis imperfecta due to recurrent point mutations at CpG dinucleotides in the COL1A1 gene of type I collagen

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Mutation analysis and molecular genetics of epidermolysis bullosa

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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The molecular structure of collagen

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Evaluation of structural and evolutionary contributions to deleterious mutation prediction.

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Human Gene Mutation Database (HGMD): 2003 update

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Molecular basis of inherited diseases: a structural perspective

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Prediction of deleterious human alleles

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Genetics cracks bone disease

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Bone disease cracks genetics

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Assessing the relative importance of the biophysical properties of amino acid substitutions associated with human genetic disease

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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The amino-acid mutational spectrum of human genetic disease

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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SNPs, protein structure, and disease.

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Amino acid sequence environment modulates the disruption by osteogenesis imperfecta glycine substitutions in collagen-like peptides.

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https://api.crossref.org/works/10.1002%2FHUMU.20091

7 January 2021

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Identifiers

10.1002/HUMU.20091

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

OpenCitations bibliographic resource ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

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Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

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