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Year Number of Results
2020 1
2021 17
2022 10
2023 9
2024 6

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Page 1
JAK2 unmutated erythrocytosis: current diagnostic approach and therapeutic views.
Gangat N, Szuber N, Pardanani A, Tefferi A. Gangat N, et al. Leukemia. 2021 Aug;35(8):2166-2181. doi: 10.1038/s41375-021-01290-6. Epub 2021 May 21. Leukemia. 2021. PMID: 34021251 Free PMC article. Review.
Workup for hereditary/congenital erythrocytosis requires documentation of family history and laboratory screening for high-oxygen affinity hemoglobin variants, 2, 3 biphosphoglycerate deficiency, and germline mutations that are known to alter cellular oxygen sensing (e.g., PHD …
Workup for hereditary/congenital erythrocytosis requires documentation of family history and laboratory screening for high-oxygen affinity h …
Low chorionic villous succinate accumulation associates with recurrent spontaneous abortion risk.
Wang XH, Xu S, Zhou XY, Zhao R, Lin Y, Cao J, Zang WD, Tao H, Xu W, Li MQ, Zhao SM, Jin LP, Zhao JY. Wang XH, et al. Nat Commun. 2021 Jun 8;12(1):3428. doi: 10.1038/s41467-021-23827-0. Nat Commun. 2021. PMID: 34103526 Free PMC article.
SDHB promoter methylation recruited MBD1 and excluded c-Fos, inactivating SDHB expression and causing intracellular succinate accumulation which mimicked hypoxia in extravillous trophoblasts cell lines JEG3 and HTR8 via the PHD2-VHL-HIF-1alpha pathway; however, low succina …
SDHB promoter methylation recruited MBD1 and excluded c-Fos, inactivating SDHB expression and causing intracellular succinate accumulation w …
Congenital erythrocytosis.
Mallik N, Das R, Malhotra P, Sharma P. Mallik N, et al. Eur J Haematol. 2021 Jul;107(1):29-37. doi: 10.1111/ejh.13632. Epub 2021 Apr 23. Eur J Haematol. 2021. PMID: 33840141 Review.
Under normoxic conditions, the hypoxia-inducible factor (HIF), upon hydroxylation by the prolyl-4-hydroxylase domain protein 2 (PHD2) enzyme, is degraded by the von Hippel-Lindau protein. In hypoxic conditions, failure of prolyl hydroxylation leads to stabilization of HIF …
Under normoxic conditions, the hypoxia-inducible factor (HIF), upon hydroxylation by the prolyl-4-hydroxylase domain protein 2 (PHD2) …
Characterization of genetic variants in the EGLN1/PHD2 gene identified in a European collection of patients with erythrocytosis.
Delamare M, Le Roy A, Pacault M, Schmitt L, Garrec C, Maaziz N, Myllykoski M, Rimbert A, Karaghiannis V, Aral B, Catherwood M, Airaud F, Mansour-Hendili L, Hoogewijs D, Peroni E, Idriss S, Lesieur V, Caillaud A, Si-Tayeb K, Chariau C, Gaignerie A, Rab M, Haferlach T, Meggendorfer M, Bézieau S, Benetti A, Casadevall N, Hirsch P, Rose C, Wemeau M, Galacteros F, Cassinat B, Bellosillo B, Bento C, Van Wijk R, Petrides PE, Randi ML, McMullin MF, Koivunen P, Girodon F, Gardie B; ECYT-3 consortium. Delamare M, et al. Haematologica. 2023 Nov 1;108(11):3068-3085. doi: 10.3324/haematol.2023.282913. Haematologica. 2023. PMID: 37317877 Free PMC article.
EGLN1 encodes the PHD2 prolyl 4-hydroxylase, a major inhibitor of hypoxia-inducible factor. We performed a comprehensive study to evaluate the causal role of the identified PHD2 variants: (i) in silico studies of localization, conservation, and deleterious ef …
EGLN1 encodes the PHD2 prolyl 4-hydroxylase, a major inhibitor of hypoxia-inducible factor. We performed a comprehensive study …
Erythrocytosis: genes and pathways involved in disease development.
Gašperšič J, Kristan A, Kunej T, Zupan IP, Debeljak N. Gašperšič J, et al. Blood Transfus. 2021 Nov;19(6):518-532. doi: 10.2450/2020.0197-20. Epub 2020 Dec 16. Blood Transfus. 2021. PMID: 33370224 Free PMC article. Review.
Familial erythrocytosis type 1 is associated with hypersensitivity to erythropoietin (variants in EPOR), types 2-5 with defects in oxygen-sensing pathways (variants in VHL, EGLN1, EPAS1, EPO), and types 6-8 with an increased affinity of haemoglobin for oxygen (variants in …
Familial erythrocytosis type 1 is associated with hypersensitivity to erythropoietin (variants in EPOR), types 2-5 with defects in oxygen-se …
Genetic Origins and Adaptive Evolution of the Deng People on the Tibetan Plateau.
Ge X, Lu Y, Chen S, Gao Y, Ma L, Liu L, Liu J, Ma X, Kang L, Xu S. Ge X, et al. Mol Biol Evol. 2023 Oct 4;40(10):msad205. doi: 10.1093/molbev/msad205. Mol Biol Evol. 2023. PMID: 37713634 Free PMC article.
In contrast, the top candidate genes harboring AGVs as previously identified in TIB, like EPAS1 and EGLN1, do not show strong positive selection signals in Deng. Interestingly, Deng also showed a different archaic introgression scenario from that observed in the TIB. ...
In contrast, the top candidate genes harboring AGVs as previously identified in TIB, like EPAS1 and EGLN1, do not show strong positiv …
Hypoxia Inducible Factor pathway proteins in high-altitude mammals.
Lee FS. Lee FS. Trends Biochem Sci. 2024 Jan;49(1):79-92. doi: 10.1016/j.tibs.2023.11.002. Epub 2023 Nov 29. Trends Biochem Sci. 2024. PMID: 38036336 Review.
In many of these species, genes under positive selection include ones in the Hypoxia Inducible Factor (HIF) pathway. One is PHD2 (EGLN1), which encodes for a key oxygen sensor. Another is HIF2A (EPAS1), which encodes for a PHD2-regulated transcription factor. …
In many of these species, genes under positive selection include ones in the Hypoxia Inducible Factor (HIF) pathway. One is PHD2 ( …
A Case-Control Study of the Associations between EGLN1 Gene Polymorphisms and COPD.
Li X, Zhang P, Yu J, Zhang C, Shi Y, Wei X, Li H, Zhang X, Lin A, Yang Z, Wang Y, Wang X. Li X, et al. Front Biosci (Landmark Ed). 2024 Jan 17;29(1):18. doi: 10.31083/j.fbl2901018. Front Biosci (Landmark Ed). 2024. PMID: 38287821 Free article.
EGLN1 negatively regulates the hypoxia-inducible factors HIF-lalpha and HIF-2alpha by regulating the concentration of oxygen, mainly in a hypoxic environment. ...RESULTS: The EGLN1 rs41303095 A>G, rs480902 C>T, rs12097901 C>G, and rs2153364 G>A polymorph …
EGLN1 negatively regulates the hypoxia-inducible factors HIF-lalpha and HIF-2alpha by regulating the concentration of oxygen, mainly …
Differential methylation in EGLN1 associates with blood oxygen saturation and plasma protein levels in high-altitude pulmonary edema.
Sharma K, Mishra A, Singh H, Thinlas T, Pasha MAQ. Sharma K, et al. Clin Epigenetics. 2022 Sep 30;14(1):123. doi: 10.1186/s13148-022-01338-z. Clin Epigenetics. 2022. PMID: 36180894 Free PMC article.
In addition to the high resolution, bisulfite converted DNA sequencing, gene expression of EGLN1 and HIF1AN and their plasma protein levels were estimated. ...Overall, the methylation percentage in EGLN1 correlated with upregulated plasma PHD2 levels (R = - 0 …
In addition to the high resolution, bisulfite converted DNA sequencing, gene expression of EGLN1 and HIF1AN and their plasma protein …
HIF-1α and Hypoxia Responsive Genes are Differentially Expressed in Leukocytes From Survivors and Non-Survivors Patients During Clinical Sepsis.
Ferreira BL, Leite GGF, Brunialti MKC, Assuncao M, Azevedo LCP, Freitas F, Salomao R. Ferreira BL, et al. Shock. 2021 Jul 1;56(1):80-91. doi: 10.1097/SHK.0000000000001694. Shock. 2021. PMID: 34196628
This same pattern was observed in surviving patients, while non-survivors presented more upregulated genes. EGLN1, EGLN2, and HIF1AN, inhibitors of HIF-1alpha activation were downregulated in patients, regardless of the outcome, while HIF-1alpha and other target genes, suc …
This same pattern was observed in surviving patients, while non-survivors presented more upregulated genes. EGLN1, EGLN2, and HIF1AN, …
40 results