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Year Number of Results
2020 9
2021 18
2022 14
2023 10
2024 5

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44 results

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Dysfibrinogenemia-Potential Impact of Genotype on Thrombosis or Bleeding.
Bor MV, Feddersen S, Pedersen IS, Sidelmann JJ, Kristensen SR. Bor MV, et al. Semin Thromb Hemost. 2022 Mar;48(2):161-173. doi: 10.1055/s-0041-1730358. Epub 2021 Jul 14. Semin Thromb Hemost. 2022. PMID: 34261148 Review.
Our family is the first reported carrying the p.Arg19Gly mutation combined with one or more single nucleotide polymorphisms (SNP)s in FGA, FGB, and/or FGG and increased fibrin fiber thickness and fibrin mass-to-length ratio suffering from pulmonary emboli, suggesting that …
Our family is the first reported carrying the p.Arg19Gly mutation combined with one or more single nucleotide polymorphisms (SNP)s in FGA, …
Quantile-specific heritability of plasma fibrinogen concentrations.
Williams PT. Williams PT. PLoS One. 2022 Jan 7;17(1):e0262395. doi: 10.1371/journal.pone.0262395. eCollection 2022. PLoS One. 2022. PMID: 34995330 Free PMC article.
The larger genetic effect at higher average fibrinogen concentrations may contribute to fibrinogen's greater heritability in women than men and in Blacks than Whites, and greater increase from smoking and air pollution for the FGB -455G>A A-allele. It may also explain g …
The larger genetic effect at higher average fibrinogen concentrations may contribute to fibrinogen's greater heritability in women than men …
Clinical and molecular characterization of Iranian patients with congenital fibrinogen disorders.
Mohsenian S, Seidizadeh O, Mirakhorli M, Jazebi M, Azarkeivan A. Mohsenian S, et al. Transfus Apher Sci. 2021 Dec;60(6):103203. doi: 10.1016/j.transci.2021.103203. Epub 2021 Jul 1. Transfus Apher Sci. 2021. PMID: 34275736
INTRODUCTION: Congenital fibrinogen disorders (CFDs) are caused by mutations in the FGA, FGB and FGG genes and are classified as quantitative and qualitative fibrinogen defects. ...
INTRODUCTION: Congenital fibrinogen disorders (CFDs) are caused by mutations in the FGA, FGB and FGG genes and are classified as quan …
Congenital fibrinogen disorder caused by digenic mutations of the FGA and FGB genes.
Wang X, Tang N, Shen N, Lu Y, Li D. Wang X, et al. Hematology. 2020 Dec;25(1):145-148. doi: 10.1080/16078454.2020.1746109. Hematology. 2020. PMID: 32228225
Objectives: Congenital fibrinogen disorders (CFDs) are caused by monoallelic or biallelic mutations in FGA, FGB, and FGG genes. Quantitative CFDs include afibrinogenemia and hypofibrinogenemia, while qualitative CFDs consist of dysfibrinogenemia and hypodysfibrinogenemia. …
Objectives: Congenital fibrinogen disorders (CFDs) are caused by monoallelic or biallelic mutations in FGA, FGB, and FGG genes. Quant …
Epigenetic role of LINE-1 methylation and key genes in pregnancy maintenance.
Tisato V, Silva JA, Scarpellini F, Capucci R, Marci R, Gallo I, Salvatori F, D'Aversa E, Secchiero P, Serino ML, Zauli G, Singh AV, Gemmati D. Tisato V, et al. Sci Rep. 2024 Feb 8;14(1):3275. doi: 10.1038/s41598-024-53737-2. Sci Rep. 2024. PMID: 38332006 Free PMC article.
Genotyping of the following SNPs accounted for different EPL/RPL risk odds ratio: F13A1 rs5985 (OR = 0.24; 0.06-0.90); F13B rs6003 (OR = 0.23; 0.047-1.1); FGA rs6050 (OR = 0.58; 0.33-1.0); CRP rs2808635/rs876538 (OR = 0.15; 0.014-0.81); ABO rs657152 (OR = 0.48; 0.22-1.08); TP53 r …
Genotyping of the following SNPs accounted for different EPL/RPL risk odds ratio: F13A1 rs5985 (OR = 0.24; 0.06-0.90); F13B rs6003 (OR = 0.2 …
Globin phylogeny, evolution and function, the newest update.
Schuster CD, Salvatore F, Moens L, Martí MA. Schuster CD, et al. Proteins. 2024 Jun;92(6):720-734. doi: 10.1002/prot.26659. Epub 2024 Jan 9. Proteins. 2024. PMID: 38192262 Review.
M-family evolution also lead to distinctive major types (FHb and Fgb, Ngb, Adgb, GbX vertebrate Gbs), and shows the shift from high oxygen affinity controlled by TyrB10-Gln/AsnE11 likely related to RNOS chemistry in microorganisms, to a moderate oxygen affinity storage/tra …
M-family evolution also lead to distinctive major types (FHb and Fgb, Ngb, Adgb, GbX vertebrate Gbs), and shows the shift from high o …
Identification of molecular subtypes and immune infiltration in endometriosis: a novel bioinformatics analysis and In vitro validation.
Lv SJ, Sun JN, Gan L, Sun J. Lv SJ, et al. Front Immunol. 2023 Aug 18;14:1130738. doi: 10.3389/fimmu.2023.1130738. eCollection 2023. Front Immunol. 2023. PMID: 37662927 Free PMC article.
RESULTS: We identified 10 candidate hub genes (GZMB, PRF1, KIR2DL1, KIR2DL3, KIR3DL1, KIR2DL4, FGB, IGFBP1, RBP4, and PROK1) that were significantly correlated with immune infiltration. ...
RESULTS: We identified 10 candidate hub genes (GZMB, PRF1, KIR2DL1, KIR2DL3, KIR3DL1, KIR2DL4, FGB, IGFBP1, RBP4, and PROK1) that wer …
Genetic association study of fatal pulmonary embolism.
Meißner L, Schürmann P, Dörk T, Hagemeier L, Klintschar M. Meißner L, et al. Int J Legal Med. 2021 Jan;135(1):143-151. doi: 10.1007/s00414-020-02441-7. Epub 2020 Oct 30. Int J Legal Med. 2021. PMID: 33128086 Free PMC article.
Genomic variation modulating Factor V, Factor XIII, Beta fibrinogen (FGB), TFPI or HIVEP1 should be worth to be followed in subsequent studies. ...
Genomic variation modulating Factor V, Factor XIII, Beta fibrinogen (FGB), TFPI or HIVEP1 should be worth to be followed in subsequen …
A Novel Fibrinogen Mutation p.BβAla68Asp Causes an Inherited Dysfibrinogenemia.
Jia K, Zeng M, Zheng X, Xie H, Yang L, Xie Y, Wang M. Jia K, et al. Hamostaseologie. 2023 Dec;43(6):426-431. doi: 10.1055/a-2116-8957. Epub 2023 Jul 29. Hamostaseologie. 2023. PMID: 37516116 Free article.
Gene analysis revealed a heterozygous c.293C > A (p.BbetaAla68Asp) mutation in FGB. Bioinformatics and modeling analysis suggested that the missense mutation could potentially have a deleterious effect on fibrinogen. CONCLUSION: The BbetaAla68Asp mutation in exon 2 of …
Gene analysis revealed a heterozygous c.293C > A (p.BbetaAla68Asp) mutation in FGB. Bioinformatics and modeling analysis suggested …
Identification of a novel mutation in congenital afibrinogenemia in Iranian patients.
Nojehdeh ST, Mojbafan M, Masoodifard M, Amini M, Zeinali S. Nojehdeh ST, et al. Blood Coagul Fibrinolysis. 2021 Jul 1;32(5):323-327. doi: 10.1097/MBC.0000000000001041. Blood Coagul Fibrinolysis. 2021. PMID: 33901106
We found three types of mutations in the studied families; two were in the FGA gene and one was in the FGB gene including a nonsense, a novel splicing mutation, and two deletion ones. The nonsense and the deletion mutations may cause a truncated protein and are likely path …
We found three types of mutations in the studied families; two were in the FGA gene and one was in the FGB gene including a nonsense, …
44 results