Paper · 6375355

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

Prockop DJ. Am J Hum Genet, 1984. Cited by 57 papers, by iCite.

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ConductScience Library. Osteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagen. Papers, record 6375355. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/6375355

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Paper

PubMed's record of the paper, with iCite's citation figures. No abstract is shown.

Title: Osteogenesis imperfecta: phenotypic heterogeneity, protein suicide, short and long collagen.; PubMed
Journal: Am J Hum Genet; PubMed
Year: 1984; PubMed
Publication types: Journal Article, Review; PubMed
PubMed: https://pubmed.ncbi.nlm.nih.gov/6375355/; PubMed
PMC: https://pmc.ncbi.nlm.nih.gov/articles/PMC1684455/; PubMed
The journal: https://conductscience.org/library/journal-index/0370475; PubMed
Citations, by iCite: 57; iCite
Relative citation ratio, by iCite: 2; iCite
Revised in PubMed: 2020-08-24; PubMed

Authors1

The authors in the order PubMed's record lists them, with the ORCID iDs it states.

Order	Author	Forename	Kind	ORCID iD
1	Prockop DJ	D J

Source PubMed

Topics11

NLM's MeSH indexing of the paper, its major topics first.

MeSH term	Major
Bone and Bones	Major topic
Collagen	Major topic
Mutation	Major topic
Osteogenesis Imperfecta	Major topic
Phenotype	Major topic
Amino Acid Sequence
Base Composition
Ehlers-Danlos Syndrome
Fibroblasts
Humans
Procollagen

Source PubMed

Grants0

Each grant PubMed's record writes, matched to the NIH project NIH's grant and paper links name for this paper, and each of those links the record does not write.

None in this release.

Trials0

The trials whose ClinicalTrials.gov record lists the paper, and the trial numbers the paper's PubMed record names.

None in this release.

Comments and corrections0

PubMed's comments and corrections, NLM's own indexing: retractions first, then expressions of concern, errata and updates, and comments last.

None in this release.

References19

The papers the reference list in PubMed's record names, those in our copy of PubMed, in the list's order.

Order	PMID	Title	Journal	Year	In Papers	Source
1	4,742,738	Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome.	Science	1973	https://conductscience.org/library/papers/4742738	PubMed
2	1,054,840	Abnormal collagen metabolism in cultured cells in osteogenesis imperfecta.	Proc Natl Acad Sci U S A	1975	https://conductscience.org/library/papers/1054840	PubMed
3	86,915	Biochemical heterogeneity of osteogenesis imperfecta: New variant.	Lancet	1979	https://conductscience.org/library/papers/86915	PubMed
4	458,828	Genetic heterogeneity in osteogenesis imperfecta.	J Med Genet	1979	https://conductscience.org/library/papers/458828	PubMed
5	6,244,313	Isolation and characterization of a 15-kilobase genomic sequence coding for part of the Pro alpha 2 chain of sheep type I collagen.	J Biol Chem	1980	https://conductscience.org/library/papers/6244313	PubMed
6	6,773,953	Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII.	J Biol Chem	1980	https://conductscience.org/library/papers/6773953	PubMed
7	7,433,131	Isolation and characterization of genomic DNA coding for alpha 2 type I collagen.	Nucleic Acids Res	1980	https://conductscience.org/library/papers/7433131	PubMed
8	6,934,545	A defect in the structure of type I procollagen in a patient who had osteogenesis imperfecta: excess mannose in the COOH-terminal propeptide.	Proc Natl Acad Sci U S A	1980	https://conductscience.org/library/papers/6934545	PubMed
9	6,272,119	Structure of the pro alpha 2 (I) collagen gene.	Nature	1981	https://conductscience.org/library/papers/6272119	PubMed
10	6,946,461	Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta.	Proc Natl Acad Sci U S A	1981	https://conductscience.org/library/papers/6946461	PubMed

1 to 10 of 19

See all 19 references

Cited by10

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 57 citations.

PMID	Title	Journal	Year	In Papers	Source
21,472,893	Persistence of intracellular and extracellular changes after incompletely suppressing expression of the R789C (p.R989C) and R992C (p.R1192C) collagen II mutants.	Hum Mutat	2011	https://conductscience.org/library/papers/21472893	PubMed
19,879,095	Contemporary management of vascular complications associated with Ehlers-Danlos syndrome.	J Vasc Surg	2010	https://conductscience.org/library/papers/19879095	PubMed
19,851,784	The unfolded protein response and its relevance to connective tissue diseases.	Cell Tissue Res	2010	https://conductscience.org/library/papers/19851784	PubMed
18,248,096	ER stress-mediated apoptosis in a new mouse model of osteogenesis imperfecta.	PLoS Genet	2008	https://conductscience.org/library/papers/18248096	PubMed
8,100,209	SSCP detection of a Gly565Val substitution in the pro alpha 1(I) collagen chain resulting in osteogenesis imperfecta type II.	Hum Genet	1993	https://conductscience.org/library/papers/8100209	PubMed
3,827,862	Collagen defects in lethal perinatal osteogenesis imperfecta.	Biochem J	1986	https://conductscience.org/library/papers/3827862	PubMed
3,612,714	Osteogenesis imperfecta type IIA: evidence for dominant inheritance.	J Med Genet	1987	https://conductscience.org/library/papers/3612714	PubMed
3,402,997	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.	Hum Genet	1988	https://conductscience.org/library/papers/3402997	PubMed
3,195,588	Type II achondrogenesis-hypochondrogenesis: identification of abnormal type II collagen.	Am J Hum Genet	1988	https://conductscience.org/library/papers/3195588	PubMed
3,023,615	Mutations linked to the pro alpha 2(I) collagen gene are responsible for several cases of osteogenesis imperfecta type I.	J Med Genet	1986	https://conductscience.org/library/papers/3023615	PubMed

Genes0

The genes the Gene search release ties to the paper: Swiss-Prot's references first, then PubTator's text mining.

None in this release.

Drugs0

The drugs whose trials, in the Pipelines release, list the paper.

None in this release.

Data0

The data bank entries PubMed's record names. Trial numbers are under Trials.

None in this release.

Data dates

The date of each source this release read.

PubMed: 2026-11-06; PubMed
iCite: 2026-11-05; iCite
PMC's ID file: 2026-11-05; PMC's ID file
NIH RePORTER's grant and paper links: 2026-11-01; NIH RePORTER's grant and paper links
Trials: 2026-11-12
Gene search: 2026-11-11
Pipelines: 2026-09-18

Sources 11

ChEMBL, through Open TargetsCC BY-SA 3.0
ClinicalTrials.govNo license stated
HGNCCC0
iCiteCC BY 4.0
NCBI GenePublic domain (US government)
NIH RePORTER's grant and paper linksPublic domain
Open TargetsCC0 1.0
PMC's ID filePublic domain (US government)
PubMedNLM's terms
PubTator 3Public domain
UniProtCC BY 4.0

Each source's terms

ChEMBL, through Open TargetsCC BY-SA 3.0, for the parts from ChEMBL. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
ClinicalTrials.govnone stated
HGNCCC0: https://www.genenames.org/about/license/
iCiteCC BY 4.0
NCBI GeneNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
NIH RePORTER's grant and paper linksPublic domain (NIH RePORTER)
Open TargetsCC0 1.0. Open Targets asks that users cite its latest paper: Buniello et al. 2025, Open Targets Platform: facilitating therapeutic hypotheses building in drug discovery, Nucleic Acids Research 53(D1):D1467, PMID 39657122. Read on 8 Nov 2026 at https://platform-docs.opentargets.org/licence
PMC's ID fileNone named for the file. NCBI says information created by or for the US government on its site is in the public domain, and asks that NLM be acknowledged: https://www.ncbi.nlm.nih.gov/home/about/policies/
PubMedNLM's terms
PubTator 3Public domain
UniProtCC BY 4.0. UniProt's licence file: "All databases and documents in the UniProt FTP directory may be copied and redistributed freely, without advance permission, provided that this copyright statement is reproduced with each copy." UniProt asks that users cite its latest paper: The UniProt Consortium, UniProt: the Universal Protein Knowledgebase in 2025, Nucleic Acids Research 53:D609-D617, https://doi.org/10.1093/nar/gkae1010. Read on 9 Nov 2026 at https://www.uniprot.org/help/license

ClinicalTrials.gov's data carry an international copyright outside the United States: https://clinicaltrials.gov/about-site/terms-conditions.

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