Varaico: Literature-Extracted Genetic Variants

Gene:STOX1
Variant:p.Y153H
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STOX1

NM_152709.5:p.Y153H

Associated Papers

Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.

Handoko et al.

Cancers, 2025

41154393 (PubMed )
Supplement: cancers-17-03338-s001.zip › Table_S1._SNV_Analysis.xlsx › SNV_Analysis

Exploring the association between STOX1:p.(Tyr153His) variant and preeclampsia risk in Egyptian women.

Kotb A et al.

Scientific Reports, 2025

Whole exome sequencing and machine learning germline analysis of individuals presenting with extreme phenotypes of high and low risk of developing tobacco-associated lung adenocarcinoma.

Patiño-García A et al.

Ebiomedicine, 2024

38484556 (PubMed )
Supplement: mmc1.xlsx › Supp_Table_2

Linking genotype to trophoblast phenotype in preeclampsia and HELLP syndrome associated with STOX1 genetic variants.

Costa L et al.

Iscience, 2024

Targeting the non-coding genome and temozolomide signature enables CRISPR-mediated glioma oncolysis.

Tan IL et al.

Cell Reports, 2023

37917583 (PubMed )
Supplement: NIHMS1948186-supplement-2.xlsx › All-Pat-ClinVar_Coding

Biochemical Characteristics of iPSC-Derived Dopaminergic Neurons from N370S GBA Variant Carriers with and without Parkinson's Disease.

Grigor'eva EV et al.

International Journal of Molecular Sciences, 2023

36901867 (PubMed )
Supplement: ijms-24-04437-s001.zip › ijms-2163006-supplementary.pdf

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table1.XLS › Sheet

STOX1 promotor region -922 T > C polymorphism is associated with Early-Onset preeclampsia.

Akin S et al.

Journal of Obstetrics and Gynaecology : the Journal of the Institute of Obstetrics and Gynaecology, 2022

Peptide ancestry informative markers in uterine neoplasms from women of European, African, and Asian ancestry.

Bateman NW et al.

Iscience, 2022

35036865 (PubMed )
Supplement: mmc2.xlsx › SupplementalTable1A

Genetic variation in placental insufficiency: What have we learned over time?

Wang LQ et al.

Frontiers in Cell and Developmental Biology, 2022

Association and functional analysis of angiotensin-converting enzyme 2 genetic variants with the pathogenesis of pre-eclampsia.

Huang G et al.

Frontiers in Endocrinology, 2022

Multidisciplinary In-Depth Investigation in a Young Athlete Suffering from Syncope Caused by Myocardial Bridge.

Brancaccio M et al.

Diagnostics (basel, Switzerland), 2021

34829491 (PubMed )
Supplement: diagnostics-11-02144-s001.zip › diagnostics-1421633-supplementary.xlsx › Supplementary_Table_S3

Functional Evaluation of STOX1 (STORKHEAD-BOX PROTEIN 1) in Placentation, Preeclampsia, and Preterm Birth.

Dunk CE et al.

Hypertension (dallas, Tex. : 1979), 2021

STOX1 deficiency is associated with renin-mediated gestational hypertension and placental defects.

Parchem JG et al.

Jci Insight, 2021

Integrated Genomic, Functional, and Prognostic Characterization of Atypical Chronic Myeloid Leukemia.

Fontana D et al.

Hemasphere, 2020

33196013 (PubMed )
Supplement: hs9-4-e497-s008.xlsx › Sheet1

STOX1 gene Y153H polymorphism is associated with early-onset preeclampsia in Turkish population.

Pinarbasi E et al.

Gene, 2020

Exploring the Molecular Aetiology of Preeclampsia by Massive Parallel Sequencing of DNA.

Laissue P et al.

Current Hypertension Reports, 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

Whole exome sequencing in three families segregating a pediatric case of sarcoidosis.

Calender A et al.

Bmc Medical Genomics, 2018

29510755 (PubMed )
Supplement: 12920_2018_338_MOESM6_ESM.xlsx › Feuil3

Personalized Therapy Against Preeclampsia by Replenishing Placental Protein 13 (PP13) Targeted to Patients With Impaired PP13 Molecule or Function.

Meiri H et al.

Computational and Structural Biotechnology Journal, 2017

Analysis of protein-coding genetic variation in 60,706 humans.

Lek M et al.

Nature, 2016

27535533 (PubMed )
Supplement: NIHMS798561-supplement-supp_table19.xlsx › SI_Table_19

Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.

Unknown Author

Genome Biology, 2015

26112015 (PubMed )
Supplement: 13059_2015_693_MOESM3_ESM.xls › Sheet1

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A04Y-01A.domain

Genetic aspects of preeclampsia and the HELLP syndrome.

Haram K et al.

Journal of Pregnancy, 2014

(Epi)genetics of pregnancy-associated diseases.

van Dijk M et al.

Frontiers in Genetics, 2013

STOX1: Key player in trophoblast dysfunction underlying early onset preeclampsia with growth retardation.

van Dijk M et al.

Journal of Pregnancy, 2011

The STOX1 genotype associated with pre-eclampsia leads to a reduction of trophoblast invasion by alpha-T-catenin upregulation.

van Dijk M et al.

Human Molecular Genetics, 2010

Placental gene expression and pre-eclampsia.

Oudejans CB et al.

Placenta, 2008

STOX1 overexpression in choriocarcinoma cells mimics transcriptional alterations observed in preeclamptic placentas.

Rigourd V et al.

Plos One, 2008

STOX1 gene in pre-eclampsia and intrauterine growth restriction.

Berends AL et al.

Bjog : an International Journal of Obstetrics and Gynaecology, 2007

Evaluation of STOX1 as a preeclampsia candidate gene in a population-wide sample.

Kivinen K et al.

European Journal of Human Genetics : Ejhg, 2007

Maternal segregation of the Dutch preeclampsia locus at 10q22 with a new member of the winged helix gene family.

van Dijk M et al.

Nature Genetics, 2005

Differential methylation of STOX1 in human placenta.

van Dijk M et al.

Epigenetics, 0

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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."