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Paper · 35054908

Structural and Functional Characterization of Four Novel Fibrinogen Mutations in FGB Causing Congenital Fibrinogen Disorder.

Ceznerová E and 6 others. Int J Mol Sci, 2022. Cited by 9 papers, by iCite.

11 sourcespapers-2026-11-12-0.1.0

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ConductScience Library. Structural and Functional Characterization of Four Novel Fibrinogen Mutations in FGB Causing Congenital Fibrinogen Disorder. Papers, record 35054908. Release papers-2026-11-12-0.1.0, 12 Nov 2026. https://conductscience.org/library/papers/35054908

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Paper

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

Title
Structural and Functional Characterization of Four Novel Fibrinogen Mutations in FGB Causing Congenital Fibrinogen Disorder.
PubMed
Journal
Int J Mol Sci
PubMed
Year
2022
PubMed
Publication types
Case Reports, Journal Article
PubMed
Citations, by iCite
9
iCite
Relative citation ratio, by iCite
0.95
iCite
Revised in PubMed
2022-02-07
PubMed

Authors7

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

OrderAuthorForenameKindORCID iD
1Ceznerová EEliškahttps://orcid.org/0000-0002-1072-5967
2Kaufmanová JJiřinahttps://orcid.org/0000-0003-0337-8204
3Sovová ŽŽofiehttps://orcid.org/0000-0003-3337-321X
4Štikarová JJanahttps://orcid.org/0000-0002-5964-0526
5Loužil JJan
6Kotlín RRoman
7Suttnar JJiříhttps://orcid.org/0000-0003-4305-9718

Source PubMed

Topics19

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

MeSH termMajor
AfibrinogenemiaMajor topic
FibrinogenMajor topic
Genetic Predisposition to DiseaseMajor topic
MutationMajor topic
PhenotypeMajor topic
Adolescent
Aged
Blood Coagulation
Blood Coagulation Tests
DNA Mutational Analysis
Female
Genetic Association Studies
Humans
Infant, Newborn
Male
Middle Aged
Models, Molecular
Protein Conformation
Structure-Activity Relationship

Source PubMed

Grants1

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.

Grant, as the record writes itAgencyCountryNIH projectStated by
00023736The Ministry of Health of the Czech RepublicPubMed

Source PubMed

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.

References42

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

OrderPMIDTitleJournalYearIn PapersSource
129,176,380Congenital hypofibrinogenemia in pregnancy: a report of 11 cases.Blood Coagul Fibrinolysis2018https://conductscience.org/library/papers/29176380PubMed
38,652,575Strategy for recombinant multichain protein synthesis: fibrinogen B beta-chain variants as thrombin substrates.Biochemistry1996https://conductscience.org/library/papers/8652575PubMed
431,914,791Effects of Post-Translational Modifications of Fibrinogen on Clot Formation, Clot Structure, and Fibrinolysis: A Systematic Review.Arterioscler Thromb Vasc Biol2020https://conductscience.org/library/papers/31914791PubMed
511,434,947Fibrinogen naples I (B beta A68T) nonsubstrate thrombin-binding capacities.Thromb Res2001https://conductscience.org/library/papers/11434947PubMed
63,548,699Influence of Ca2+ on the structure of reptilase-derived and thrombin-derived fibrin gels.Biochem J1986https://conductscience.org/library/papers/3548699PubMed
712,045,153The human genome browser at UCSC.Genome Res2002https://conductscience.org/library/papers/12045153PubMed
88,675,656Aberrant hepatic processing causes removal of activation peptide and primary polymerisation site from fibrinogen Canterbury (A alpha 20 Val --> Asp).J Clin Invest1995https://conductscience.org/library/papers/8675656PubMed
923,560,673Molecular basis of quantitative fibrinogen disorders in 27 patients from India.Haemophilia2013https://conductscience.org/library/papers/23560673PubMed
1016,195,396Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia.Hum Mol Genet2005https://conductscience.org/library/papers/16195396PubMed
1127,322,406Comparative Protein Structure Modeling Using MODELLER.Curr Protoc Bioinformatics2016https://conductscience.org/library/papers/27322406PubMed

1 to 10 of 42

See all 42 references

Cited by5

The papers in our copy of PubMed whose reference list names this one, newest first. iCite, which reads more sources, counts 9 citations.

PMIDTitleJournalYearIn PapersSource
40,506,718A heterozygous nonsense mutation in the FGB gene (c.1299G > A) causes congenital fibrinogen disorder across four consecutive generations.Thromb J2025https://conductscience.org/library/papers/40506718PubMed
39,765,359[Advances in the genetics of venous thromboembolic disease].Zhonghua Xue Ye Xue Za Zhi2024https://conductscience.org/library/papers/39765359PubMed
39,665,495The β-Chain Mutation p.Arg17Stop Impairs Fibrinogen Synthesis and Secretion: A Nonsense Mutation Associated With Hypofibrinogenemia.J Clin Lab Anal2024https://conductscience.org/library/papers/39665495PubMed
38,185,523[Phenotype and genotype analyses of two pedigrees with inherited fibrinogen deficiency].Zhonghua Xue Ye Xue Za Zhi2023https://conductscience.org/library/papers/38185523PubMed
37,601,017Fibrinogen BOE II: dysfibrinogenemia with bleeding and defective thrombin binding.Res Pract Thromb Haemost2023https://conductscience.org/library/papers/37601017PubMed

Genes8

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

GeneNCBI Gene IDLinked byIn GenesSource
ALB213PubTator's text mininghttps://conductscience.org/library/genes/213NCBI Gene
F22,147PubTator's text mininghttps://conductscience.org/library/genes/2147NCBI Gene
FGA2,243PubTator's text mininghttps://conductscience.org/library/genes/2243NCBI Gene
FGB2,244PubTator's text mininghttps://conductscience.org/library/genes/2244NCBI Gene
FGG2,266PubTator's text mininghttps://conductscience.org/library/genes/2266NCBI Gene
PLAT5,327PubTator's text mininghttps://conductscience.org/library/genes/5327NCBI Gene
PLG5,340PubTator's text mininghttps://conductscience.org/library/genes/5340NCBI Gene
SERPINC1462PubTator's text mininghttps://conductscience.org/library/genes/462NCBI Gene

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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