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2019 4
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Inherited platelet diseases with normal platelet count: phenotypes, genotypes and diagnostic strategy.
Nurden P, Stritt S, Favier R, Nurden AT. Nurden P, et al. Haematologica. 2021 Feb 1;106(2):337-350. doi: 10.3324/haematol.2020.248153. Haematologica. 2021. PMID: 33147934 Free PMC article. Review.
Important are mutations of P2RY12 encoding the major ADP receptor causal for an inherited platelet disorder with inheritance characteristics that depend on the variant identified. Interestingly, variants of GP6 encoding the major subunit of the collagen receptor GPVI/FcRga …
Important are mutations of P2RY12 encoding the major ADP receptor causal for an inherited platelet disorder with inheritance characteristics …
Polymorphisms in GP6, PEAR1A, MRVI1, PIK3CG, JMJD1C, and SHH Genes in Patients with Unstable Angina.
Rudzik R, Dziedziejko V, Rać ME, Sawczuk M, Maciejewska-Skrendo A, Safranow K, Pawlik A. Rudzik R, et al. Int J Environ Res Public Health. 2020 Oct 15;17(20):7506. doi: 10.3390/ijerph17207506. Int J Environ Res Public Health. 2020. PMID: 33076381 Free PMC article.
CONCLUSIONS: The results of this study suggest a lack of association between GP6 (rs1671152), PEAR1A (rs12566888), MRVI1 (rs7940646), PIK3CG (rs342286), JMJD1C (rs10761741), SHH (rs2363910), and unstable angina. The results indicate an association between GP6 (rs167 …
CONCLUSIONS: The results of this study suggest a lack of association between GP6 (rs1671152), PEAR1A (rs12566888), MRVI1 (rs7940646), …
Proteome-wide mendelian randomization identifies causal plasma proteins in venous thromboembolism development.
Li H, Zhang Z, Qiu Y, Weng H, Yuan S, Zhang Y, Zhang Y, Xi L, Xu F, Ji X, Hao R, Yang P, Chen G, Zuo X, Zhai Z, Wang C. Li H, et al. J Hum Genet. 2023 Dec;68(12):805-812. doi: 10.1038/s10038-023-01186-6. Epub 2023 Aug 3. J Hum Genet. 2023. PMID: 37537391 Free PMC article.
Twenty genetically regulated circulating protein abundances (F2, F11, ABO, PLCG2, LRP4, PLEK, KLKB1, PROC, KNG1, THBS2, SERPINA1, RARRES2, CEL, GP6, SERPINE2, SERPINA10, OBP2B, EFEMP1, F5, and MSR1) were associated with VTE. ...
Twenty genetically regulated circulating protein abundances (F2, F11, ABO, PLCG2, LRP4, PLEK, KLKB1, PROC, KNG1, THBS2, SERPINA1, RARRES2, C …
The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants.
Rio-Machin A, Vulliamy T, Hug N, Walne A, Tawana K, Cardoso S, Ellison A, Pontikos N, Wang J, Tummala H, Al Seraihi AFH, Alnajar J, Bewicke-Copley F, Armes H, Barnett M, Bloor A, Bödör C, Bowen D, Fenaux P, Green A, Hallahan A, Hjorth-Hansen H, Hossain U, Killick S, Lawson S, Layton M, Male AM, Marsh J, Mehta P, Mous R, Nomdedéu JF, Owen C, Pavlu J, Payne EM, Protheroe RE, Preudhomme C, Pujol-Moix N, Renneville A, Russell N, Saggar A, Sciuccati G, Taussig D, Toze CL, Uyttebroeck A, Vandenberghe P, Schlegelberger B, Ripperger T, Steinemann D, Wu J, Mason J, Page P, Akiki S, Reay K, Cavenagh JD, Plagnol V, Caceres JF, Fitzgibbon J, Dokal I. Rio-Machin A, et al. Nat Commun. 2020 Feb 25;11(1):1044. doi: 10.1038/s41467-020-14829-5. Nat Commun. 2020. PMID: 32098966 Free PMC article.
Whole exome sequencing in a further 37 uncharacterized families (43%) allowed us to rationalize 65 new candidate loci, including genes mutated in rare hematological syndromes (ADA, GP6, IL17RA, PRF1 and SEC23B), reported in prior MDS/AML or inherited bone marrow failure se …
Whole exome sequencing in a further 37 uncharacterized families (43%) allowed us to rationalize 65 new candidate loci, including genes mutat …
The human platelet transcriptome and proteome is altered and pro-thrombotic functional responses are increased during prolonged hypoxia exposure at high altitude.
Shang C, Wuren T, Ga Q, Bai Z, Guo L, Eustes AS, McComas KN, Rondina MT, Ge R. Shang C, et al. Platelets. 2020;31(1):33-42. doi: 10.1080/09537104.2019.1572876. Epub 2019 Feb 5. Platelets. 2020. PMID: 30721642
Among the significantly, differentially expressed genes (mRNA and protein), were those having canonical roles in platelet activation and thrombosis, including membrane glycoproteins (e.g. GP4, GP6, GP9), integrin subunits (e.g. ITGA2B), and alpha-granule chemokines (e.g. . …
Among the significantly, differentially expressed genes (mRNA and protein), were those having canonical roles in platelet activation and thr …
Gene expression profile in metastatic and non-metastatic parathyroid carcinoma.
Condello V, Cetani F, Denaro M, Torregrossa L, Pardi E, Piaggi P, Borsari S, Poma AM, Muscarella LA, Graziano P, Chiofalo MG, Repaci A, Tallini G, Boi F, Materazzi G, Basolo F, Marcocci C. Condello V, et al. Endocr Relat Cancer. 2021 Feb;28(2):111-134. doi: 10.1530/ERC-20-0450. Endocr Relat Cancer. 2021. PMID: 33290252
The molecular signatures identified in non-metastatic PCs vs PAs and in metastatic PCs vs non-metastatic PCs comparisons, although with some exceptions, seem to be histotype-specific IPA reveals that hepatic fibrosis/hepatic stellate cell activation and GP6 signaling pathw …
The molecular signatures identified in non-metastatic PCs vs PAs and in metastatic PCs vs non-metastatic PCs comparisons, although with some …
CRISPR-edited megakaryocytes for rapid screening of platelet gene functions.
Montenont E, Bhatlekar S, Jacob S, Kosaka Y, Manne BK, Lee O, Parra-Izquierdo I, Tugolukova E, Tolley ND, Rondina MT, Bray PF, Rowley JW. Montenont E, et al. Blood Adv. 2021 May 11;5(9):2362-2374. doi: 10.1182/bloodadvances.2020004112. Blood Adv. 2021. PMID: 33944898 Free PMC article.
Gene editing induced loss of protein in up to 95% of cells for platelet function genes GP6, RASGRP2, and ITGA2B; for the immune receptor component B2M; and for COMMD7, which was previously associated with cardiovascular disease and platelet function. ...Deletion of B2M did …
Gene editing induced loss of protein in up to 95% of cells for platelet function genes GP6, RASGRP2, and ITGA2B; for the immune recep …
Association between Platelet-Specific Collagen Receptor Glycoprotein 6 Gene Variants, Selected Biomarkers, and Recurrent Pregnancy Loss in Korean Women.
An HJ, Ahn EH, Kim JO, Ryu CS, Park HS, Cho SH, Kim JH, Lee WS, Lee JR, Kim YR, Kim NK. An HJ, et al. Genes (Basel). 2020 Jul 29;11(8):862. doi: 10.3390/genes11080862. Genes (Basel). 2020. PMID: 32751271 Free PMC article.
Altogether, the genotype frequencies of GP6 rs1654410 T>C and GP6 rs1654419 G>A were significantly different between RPL patients and control participants. Therefore, although GP6 polymorphisms may be useful as biomarkers of RPL, additional studies with …
Altogether, the genotype frequencies of GP6 rs1654410 T>C and GP6 rs1654419 G>A were significantly different between RPL …
Colony-forming units optimization and human papillomavirus detection in umbilical cord blood.
Dimas-González J, Trejo-Gómora JE, Bonilla-Cisneros C, Lagunas-Martínez A. Dimas-González J, et al. Gac Med Mex. 2021;157(1):29-34. doi: 10.24875/GMM.M21000533. Gac Med Mex. 2021. PMID: 34125810 Free article. English.
Subsequently, HPV L1 gene was detected using the MY09/MY11 and GP5/GP6+ oligonucleotides. PCR products were analyzed with electrophoresis in agarose gel. ...All samples were positive for GAPDH amplification and negative for MY09/MY/11 and GP5/GP6+. CONCLUSIONS: Cryo …
Subsequently, HPV L1 gene was detected using the MY09/MY11 and GP5/GP6+ oligonucleotides. PCR products were analyzed with electrophor …
Is Human Papillomavirus and Helicobacter pylori Related in Gastric Lesions?
Bozdayi G, Dinc B, Avcikucuk H, Turhan N, Altay-Kocak A, Ozkan S, Ozin Y, Bostanci B. Bozdayi G, et al. Clin Lab. 2019 Oct 1;65(10). doi: 10.7754/Clin.Lab.2019.181244. Clin Lab. 2019. PMID: 31625359
HPV types other than 16 and HPV type 16 DNA were detected by Real Time PCR using the L1 region. Amplifications of MY09/11 products were done by GP5+/GP6+ primers and Cyanine-5 labeled HPV DNA and HPV 16 DNA specific probe in Light Cycler 2.0 (Roche Diagnostics, Germany) de …
HPV types other than 16 and HPV type 16 DNA were detected by Real Time PCR using the L1 region. Amplifications of MY09/11 products were done …
24 results