(Q53967424)

English

Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype.

scientific article

In more languages

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

23 May 2018

http://europepmc.org/abstract/MED/17206620

Y-position cysteine substitution in type I collagen (alpha1(I) R888C/p.R1066C) is associated with osteogenesis imperfecta/Ehlers-Danlos syndrome phenotype. (English)

1 reference

Europe PubMed Central

PubMed publication ID

23 May 2018

http://europepmc.org/abstract/MED/17206620

Ehlers-Danlos syndrome

0 references

osteogenesis imperfecta

0 references

9

1 reference

Europe PubMed Central

PubMed publication ID

23 May 2018

http://europepmc.org/abstract/MED/17206620

author name string

Wayne A Cabral

1

1 reference

Europe PubMed Central

PubMed publication ID

23 May 2018

http://europepmc.org/abstract/MED/17206620

Elena Makareeva

2

1 reference

Europe PubMed Central

PubMed publication ID

23 May 2018

http://europepmc.org/abstract/MED/17206620

Anne D Letocha

3

1 reference

Europe PubMed Central

PubMed publication ID

23 May 2018

http://europepmc.org/abstract/MED/17206620

Nina Scribanu

4

1 reference

Europe PubMed Central

PubMed publication ID

23 May 2018

http://europepmc.org/abstract/MED/17206620

Andrzej Fertala

5

1 reference

Europe PubMed Central

PubMed publication ID

23 May 2018

http://europepmc.org/abstract/MED/17206620

Andrzej Steplewski

6

1 reference

Europe PubMed Central

PubMed publication ID

23 May 2018

http://europepmc.org/abstract/MED/17206620

Douglas R Keene

7

1 reference

Europe PubMed Central

PubMed publication ID

23 May 2018

http://europepmc.org/abstract/MED/17206620

Anton V Persikov

8

1 reference

Europe PubMed Central

PubMed publication ID

23 May 2018

http://europepmc.org/abstract/MED/17206620

Joan C Marini

10

1 reference

Europe PubMed Central

PubMed publication ID

23 May 2018

http://europepmc.org/abstract/MED/17206620

publication date

1 April 2007

1 reference

Europe PubMed Central

PubMed publication ID

23 May 2018

http://europepmc.org/abstract/MED/17206620

1 reference

Europe PubMed Central

PubMed publication ID

23 May 2018

http://europepmc.org/abstract/MED/17206620

28

1 reference

Europe PubMed Central

PubMed publication ID

23 May 2018

http://europepmc.org/abstract/MED/17206620

4

1 reference

Europe PubMed Central

PubMed publication ID

23 May 2018

http://europepmc.org/abstract/MED/17206620

396-405

1 reference

Europe PubMed Central

PubMed publication ID

23 May 2018

http://europepmc.org/abstract/MED/17206620

A novel COL1A1 mutation in infantile cortical hyperostosis (Caffey disease) expands the spectrum of collagen-related disorders

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

21 January 2018

Collagen II containing a Cys substitution for Arg-alpha1-519. Analysis by atomic force microscopy demonstrates that mutated monomers alter the topography of the surface of collagen II fibrils

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Single base mutation in the type II procollagen gene (COL2A1) as a cause of primary osteoarthritis associated with a mild chondrodysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Stickler-like syndrome due to a dominant negative mutation in the COL2A1 gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Deposition and selective degradation of structurally-abnormal type I collagen in a collagen matrix produced by osteogenesis imperfecta fibroblasts in vitro

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Type I collagen triplet duplication mutation in lethal osteogenesis imperfecta shifts register of alpha chains throughout the helix and disrupts incorporation of mutant helices into fibrils and extracellular matrix

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Mutations Near Amino End of α1(I) Collagen Cause Combined Osteogenesis Imperfecta/Ehlers-Danlos Syndrome by Interference with N-propeptide Processing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Characterization and partial amino acid sequencing of a 107-kDa procollagen I N-proteinase purified by affinity chromatography on immobilized type XIV collagen

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Collagen II containing a Cys substitution for arg-alpha1-519. Homotrimeric monomers containing the mutation do not assemble into fibrils but alter the self-assembly of the normal protein

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

An alpha2(I) glycine to aspartate substitution is responsible for the presence of a kink in type I collagen in a lethal case of osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Y-position collagen II mutation disrupts cartilage formation and skeletal development in a transgenic mouse model of spondyloepiphyseal dysplasia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

The role of polar and hydrophobic interactions for the molecular packing of type I collagen: a three-dimensional evaluation of the amino acid sequence

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Human cartilage from late stage familial osteoarthritis transcribes type II collagen mRNA encoding a cysteine in position 519

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Analysis of the primary structure of collagen for the origins of molecular packing

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Procollagen N-peptidases: procollagen N-proteinases

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Staggered molecular packing in crystals of a collagen-like peptide with a single charged pair

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

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

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Type I collagen is thermally unstable at body temperature

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1).

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Three arginine to cysteine substitutions in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Classical Ehlers-Danlos syndrome caused by a mutation in type I collagen

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Collagen model peptides: Sequence dependence of triple-helix stability

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Prediction of collagen stability from amino acid sequence

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

A substitution at a non-glycine position in the triple-helical domain of pro alpha 2(I) collagen chains present in an individual with a variant of the Marfan syndrome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Severity of osteogenesis imperfecta and structure of a collagen-like peptide modeling a lethal mutation site

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Familial spondyloepiphyseal dysplasia tarda, brachydactyly, and precocious osteoarthritis associated with an arginine 75-->cysteine mutation in the procollagen type II gene in a kindred of Chiloe Islanders. I. Clinical, radiographic, and pathologic

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Fibrillin: monomers and microfibrils

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Position of single amino acid substitutions in the collagen triple helix determines their effect on structure of collagen fibrils

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Novel amino acid substitution in the Y-position of collagen type II causes spondyloepimetaphyseal dysplasia congenita

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Identification of type I collagen gene polymorphisms: tolerance of sequence variation at an alpha 2(I) helix Y position

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Stabilization of the triple-helical structure of natural collagen by side-chain interactions

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Osteogenesis imperfecta type IV: evidence of abnormal triple helical structure of type I collagen

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1)

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Three new point mutations in type II procollagen (COL2A1) and identification of a fourth family with the COL2A1 Arg519-->Cys base substitution using conformation sensitive gel electrophoresis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.20456

7 January 2021

based on heuristic

inferred from DOI database lookup

Identifiers

10.1002/HUMU.20456

1 reference

Europe PubMed Central

PubMed publication ID

23 May 2018

http://europepmc.org/abstract/MED/17206620

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

23 May 2018

http://europepmc.org/abstract/MED/17206620

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q53967424&oldid=1465101152"