Varaico: Literature-Extracted Genetic Variants

Gene:EDN1
Variant:p.K198N
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EDN1

NM_001955.5:p.K198N

Associated Papers

In silico prioritisation of EDN1 missense variants identifies mature endothelin-1 substitutions with predicted receptor-binding effects.

Sivakumar R et al.

Bmc Genomics, 2026

Custom Gene Panel Analysis Identifies Novel Polymorphisms Associated with Clopidogrel Response in Patients Undergoing Percutaneous Coronary Intervention with Stent.

Antúnez-Rodríguez A et al.

International Journal of Molecular Sciences, 2025

41097034 (PubMed )
Supplement: ijms-26-09766-s001.zip › ijms-3859360-supplementary.pdf

Genes predisposing to acute cerebral circulatory failure in severe pre-eclampsia in the Kazakh population.

Svyatova G et al.

International Journal of Gynaecology and Obstetrics: the Official Organ of the International Federation of Gynaecology and Obstetrics, 2025

Association of endothelial nitric oxide synthase (NOS3) rs2070744 variant with advanced retinopathy of prematurity: a case-control study and meta-analysis.

Choręziak-Michalak A et al.

Scientific Reports, 2025

G protein-coupled receptor (GPCR) pharmacogenomics.

Thompson MD et al.

Critical Reviews in Clinical Laboratory Sciences, 2024

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

Association of Genetic polymorphisms of EDN1 gene and Endothelin-1 level in patients with type 2 diabetes mellitus in the Jordanian population.

Maslat AO et al.

Heliyon, 2024

Functional mutation, splice, distribution, and divergence analysis of impactful genes associated with heart failure and other cardiovascular diseases.

Mhatre I et al.

Scientific Reports, 2023

37798313 (PubMed )
Supplement: 41598_2023_44127_MOESM2_ESM.pdf

The Role of Polymorphism in the Endothelial Homeostasis and Vitamin D Metabolism Genes in the Severity of Coronary Artery Disease.

Ponasenko A et al.

Biomedicines, 2023

Potential role of eNOS and EDN-1 gene polymorphisms in the development and progression of retinopathy of prematurity.

Choręziak-Michalak A et al.

Bmc Ophthalmology, 2023

Genetic and epigenetic factors of arterial hypertension: a bibliometric- and in-silico-based analyses.

Karabaeva RZ et al.

Frontiers in Molecular Biosciences, 2023

The EDN1 Missense Variant rs5370G > T Regulates Adaptation and Maladaptation under Hypobaric Hypoxia.

Palmo T et al.

International Journal of Environmental Research and Public Health, 2022

Associations of + 138 Ins/del A and + 5665 G/T polymorphisms of endothelin-1 gene with hypertension in Burmese people in Magway, Myanmar.

Oo WM et al.

Clinical Hypertension, 2022

Association of polymorphisms in endothelin-1 and endothelin receptor a genes with vasovagal syncope.

Lazurova Z et al.

Physiological Research, 2022

Genetic variant in the 5' untranslated region of endothelin1 (EDN1) gene in children with primary nephrotic syndrome.

Yahia S et al.

Journal of Biochemical and Molecular Toxicology, 2022

Clinical Implication of Genetic Testing in Dilated Cardiomyopathy.

Lee JH et al.

International Journal of Heart Failure, 2022

Endothelin-1 gene and endothelin receptor A gene polymorphisms in severe pulmonary hypertension associated with rheumatic mitral valve disease.

Mehra P et al.

Archives of Medical Science : Ams, 2022

Common Variation in EDN1 Regulatory Regions Highlights the Role of PPARγ as a Key Regulator of Endothelin in vitro.

Lago-Docampo M et al.

Frontiers in Cardiovascular Medicine, 2022

Association of Endothelin-Converting Enzyme and Endothelin-1 Gene Polymorphisms with Essential Hypertension in Malay Ethnics.

Salim E et al.

Genetics Research, 2022

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1

Genetic Polymorphisms in Sudden Sensorineural Hearing Loss: An Update.

Corazzi V et al.

Ear, Nose, & Throat Journal, 2021

Association of the CYP1A1 rs4646903 polymorphism with susceptibility and severity of coronary artery disease.

Eskandari M et al.

Molecular Biology Research Communications, 2021

Genetic markers for preeclampsia in Peruvian women.

Pacheco-Romero J et al.

Colombia Medica (cali, Colombia), 2021

Association of +138I/D and Lys198Asn Polymorphisms in the Endothelin-1 Gene with Early Onset of Coronary Artery Disease among the Chinese Han Population.

Tu G et al.

Medical Science Monitor : International Medical Journal of Experimental and Clinical Research, 2020

Association of PAI-1 rs1799889 Polymorphism with Susceptibility to Ischemic Stroke: a Huge Meta-Analysis based on 44 Studies.

Jafari M et al.

Acta Medica (hradec Kralove), 2020

Influence of LYS198ASN polymorphism of endothelin-1 gene on ischemic atherothrombotic stroke characteristics.

Oleshko TB et al.

Wiadomosci Lekarskie (warsaw, Poland : 1960), 2020

Introducing the first whole genomes of nationals from the United Arab Emirates.

AlSafar HS et al.

Scientific Reports, 2019

31604968 (PubMed )
Supplement: 41598_2019_50876_MOESM1_ESM.xlsx › UAE_S001

Impact of the gene-gene interactions related to the HIF-1α signaling pathway with the knee osteoarthritis development.

Fernández-Torres J et al.

Clinical Rheumatology, 2019

Association between Lys198Asn polymorphism of endothelin-1 gene and ischemic stroke: A meta-analysis.

Nepal G et al.

Brain and Behavior, 2019

The endothelin 1 and endothelin receptor A gene polymorphisms increase the risk of developing papillary thyroid cancer.

Aydin AF et al.

Molecular Biology Reports, 2019

Association of endothelin receptor type A rs5333 gene polymorphism with steroid response in Egyptian children with idiopathic nephrotic syndrome.

Ezzat GM et al.

Pharmacogenomics, 2019

[The association of LYS198ASN -polymorphism of endothelin-1 gene (EDN1) with development of arterial hypertension in ukrainian population].

Smiianova YO et al.

Wiadomosci Lekarskie (warsaw, Poland : 1960), 2019

Plasticity of Drug-Naïve and Vemurafenib- or Trametinib-Resistant Melanoma Cells in Execution of Differentiation/Pigmentation Program.

Czyz M et al.

Journal of Oncology, 2019

Genetic susceptibility of five tagSNPs in the endothelin-1 (EDN1) gene to coronary artery disease in a Chinese Han population.

Liang LL et al.

Bioscience Reports, 2018

Associations between endothelin polymorphisms and aneurysmal subarachnoid hemorrhage, clinical vasospasm, delayed cerebral ischemia, and functional outcome.

Griessenauer CJ et al.

Journal of Neurosurgery, 2018

Candidate gene analysis in pathogenesis of surgically and non-surgically treated necrotizing enterocolitis in preterm infants.

Szpecht D et al.

Molecular and Cellular Biochemistry, 2018

Positive Association between EDN1 rs5370 (Lys198Asn) Polymorphism and Large Artery Stroke in a Ukrainian Population.

Dubovyk YI et al.

Disease Markers, 2018

Endothelin-1 Gene Polymorphisms rs5370, rs1476046, and rs3087459 are not Associated with Diabetic Nephropathy in Caucasians with Type 2 Diabetes Mellitus.

Šeruga M et al.

Folia Medica, 2017

A systematic review of genetic mutations in pulmonary arterial hypertension.

Garcia-Rivas G et al.

Bmc Medical Genetics, 2017

28768485 (PubMed )
Supplement: 12881_2017_440_MOESM1_ESM.xlsx › table-mutations-per-gene

Association of endothelin-1 gene polymorphisms with essential hypertension in a Chinese population.

Fang Z et al.

Genetics and Molecular Research : Gmr, 2017

Endothelin-1 genetic polymorphism as predictive marker for bevacizumab in metastatic breast cancer.

Gampenrieder SP et al.

The Pharmacogenomics Journal, 2017

Association of Endothelin-1 rs5370 G>T gene polymorphism with the risk of nephrotic syndrome in children.

Hashemi M et al.

Journal of Nephropathology, 2017

Associations of Endothelin Polymorphisms and Aneurysm Size at Time of Rupture.

Hendrix P et al.

World Neurosurgery, 2017

Endothelin polymorphisms as a risk factor for cerebral aneurysm rebleeding following aneurysmal subarachnoid hemorrhage.

Foreman PM et al.

Clinical Neurology and Neurosurgery, 2017

Genetic determinants of essential hypertension in the population of Tatars from Russia.

Timasheva Y et al.

Journal of Hypertension, 2017

Role of endothelial nitric oxide synthase and endothelin-1 polymorphism genes with the pathogenesis of intraventricular hemorrhage in preterm infants.

Szpecht D et al.

Scientific Reports, 2017

Identification of novel candidate variants including COL6A6 polymorphisms in early-onset atopic dermatitis using whole-exome sequencing.

Heo WI et al.

Bmc Medical Genetics, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."