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Akademický článek

Association of the C allele of rs479200 in the EGLN1 gene with COVID-19 severity in Indian population: a novel finding

Autor: Renuka Harit, Sajal De, Piyoosh Kumar Singh, Deepika Kashyap, Manish Kumar, Dibakar Sahu, Chander Prakash Yadav, Mradul Mohan, Vineeta Singh, Ram Singh Tomar, Kailash C. Pandey, Kapil Vashisht

Publikováno v: Human Genomics, Vol 18, Iss 1, Pp 1-6 (2024)

Abstract The present study investigated two single nucleotide polymorphisms (SNPs)—rs479200 and rs516651 in the host EGLN1/PHD2 gene for their association with COVID-19 severity. A retrospective cohort of 158 COVID-19 patients from the Indian popul

Externí odkaz: https://doaj.org/article/493495c034124de0857bfccccc96cd6a

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Akademický článek

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Novel association of SNP rs479200 in EGLN1 gene with predisposition to preeclampsia

Autor: K S Praveen Kumar, Madhuri Arcot, Sharath Balakrishna, Munikrishna Munisamaiah

Publikováno v: Gene. 705:1-4

Objectives Placental hypoxia is a hallmark of preeclampsia. SNP rs479200 in the EGLN1 gene is associated with reduced responsiveness to hypoxia. Whether this translates into an association between SNP rs479200 and preeclampsia is not known. We evalua

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::69b52c79ac378cc6119affd4639f8656
https://doi.org/10.1016/j.gene.2019.04.049

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rs1769793 variant reduces EGLN1 expression in skeletal muscle and hippocampus and contributes to high aerobic capacity in hypoxia

Autor: Haihua Zhang, Guiyou Liu, Zhifa Han, Xunming Ji, Wenbo Zhao, Tao Wang

Publikováno v: Proc Natl Acad Sci U S A

Evidence shows that EGLN1 could control the hypoxia-inducible factor-α (HIF-1α) level by suppressing its transcriptional activity, which, in turn, regulates the cellular hypoxic response (1⇓–3). Brutsaert et al. (4) analyze 429 Peruvian Quechua

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::734d6833bb9efe5b5993cc8ce800596e
https://europepmc.org/articles/PMC7703601/

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Correction for Brutsaert et al., Association of EGLN1 gene with high aerobic capacity of Peruvian Quechua at high altitude

Autor: Fabiola León-Velarde, Maria Rivera-Ch, Frank S. Lee, Sudipta Ghosh, Jenna L Isherwood, Melisa Kiyamu, Abigail W. Bigham, Gianpietro Elias Revollendo, Tom D. Brutsaert

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e89fc21ce8d57055acfa9cc3d20cb52
https://europepmc.org/articles/PMC7022169/

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Loss-of-function zinc finger mutation in the EGLN1 gene associated with erythrocytosis

Autor: Alexander P.A. Stegmann, Bradleigh E. Navalsky, Albertine E. Donker, Richard van Wijk, Kai Peng, Wei Guan, Frank S. Lee, Daisheng Song, Margje Sinnema, Johanna W. H. Janssen

Publikováno v: Blood, 132(13), 1455-1458. The American Society of Hematology

TO THE EDITOR: Mutations in the EGLN1 (also known as PHD2 ) gene are associated with erythrocytosis.[1][1] The encoded protein, PHD2, is a central cellular oxygen sensor that hydroxylates the α subunit of the hypoxia inducible factor (HIF) transcrip

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6efc2cb3dc3ce2381c0455a0c385ae0a
https://doi.org/10.1182/blood-2018-06-854711

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Akademický článek

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Genetic Analysis of EGLN1 C127S Variant in Taiwanese Parkinson’s Disease

Autor: Guey Jen Lee-Chen, Chiung Mei Chen, Han Lin Chiang, Yi-Chun Chen, Chih Ying Chao, Yih Ru Wu

Publikováno v: Parkinson's Disease, Vol 2020 (2020)

Parkinson’s disease (PD) is a neurodegenerative disorder related to nigrostriatal dopaminergic neuron degeneration and iron accumulation. As a cellular oxygen sensor, prolyl hydroxylase domain containing protein 2 (PHD2, encoded by egl-9 family hyp

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8f8f8885e4a0e25793e3dfc0ab7a710
https://doaj.org/article/9bf671d338df4f26afb5b5265ff76f55

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Congenital erythrocytosis - discover of a new mutation in theEGLN1gene

Autor: Maria Reis Andrade, Catarina Dantas Rodrigues, Celeste Bento, Paula Rocha, Gisela Ferreira, Conceição Constanço, Helena Matos Silva, João Barradas

Publikováno v: Clinical Case Reports

Key Clinical Message Congenital erythrocytosis is a hereditary disorder due to an increase in red cell mass that can be caused by mutations in proteins involved in HIF‐α pathway, as PHD2. Hereby, we describe a new familial mutation in PHD2 gene. C

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2cb56ded1adef7e99c8f1b268c4aa17c
https://doi.org/10.1002/ccr3.1499

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Hypoxia responsiveness linked variant in EGLN1 gene is enriched in oral cancer patients

Autor: Sharath Balakrishna, S. M. Azeem Mohiyuddin, Immaculate Francis, Madhuri Arcot

Publikováno v: Archives of Oral Biology. 116:104767

Objective The aim of this study was to determine the association of EGLN1 gene variant SNP rs479200 (T > C) with the risk of oral cancer. Materials and methods A case-control study was conducted by involving 103 oral cancer patients and 206 age and g

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7282a64d2488c32d0825823cc1ec95b7
https://doi.org/10.1016/j.archoralbio.2020.104767

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