Varaico: Literature-Extracted Genetic Variants

Gene:ADD1
Variant:p.G460W
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ADD1

NM_001354761.2:p.G460W

Associated Papers

Genetic Analysis of 23 SNVs of Nine Genes Involved in RBC Membranopathies with the Hematological Parameters of Mexican Patients.

Espinoza-Mata LL et al.

Genetic Testing and Molecular Biomarkers, 2026

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

Pharmacogenomics in cardiac therapy: Personalizing treatment for heart health.

Naderi N et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2025

Computational Saturation Mutagenesis Reveals Pathogenic and Structural Impacts of Missense Mutations in Adducin Proteins.

Meléndez-Aranda L et al.

Genes, 2025

Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.

Liu J et al.

Science Advances, 2025

40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › BRCA1-mutant_corrected_iPSC

Molecular Determinants of the Human Retinal Pigment Epithelium Cell Fate and Potential Pharmacogenomic Targets for Precision Medicine.

Zibetti C

International Journal of Molecular Sciences, 2025

40565279 (PubMed )
Supplement: ijms-26-05817-s001.zip › Table_S1_NGS_qc_and_WES_April2025_2_.xlsx › D2_hiPSCsvsPBMC_SNPs_InDels

ICAM1 778G>A (rs1799969), ADD1 1378G>T (rs4961), NPPA 553T>C (rs5065), and NOS3 894G>T (rs1799983) Variants in Infants with Gastroschisis from Western Mexico.

Bobadilla Morales L et al.

Genetic Testing and Molecular Biomarkers, 2025

Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.

Kuras M et al.

Cancers, 2025

40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A

Single nucleotide polymorphism rs4961 in the adducin 1 gene is not associated with gastric cancer or preneoplastic cancer lesions.

Agreda-Fernández MY et al.

Oncology Letters, 2024

Single nucleotide polymorphism-based biomarker in primary hypertension.

Laxmi et al.

European Journal of Pharmacology, 2024

Association of the Single Nucleotide Polymorphisms in the Renin-Angiotensin-Aldosterone System with Hypertension in the Uzbek Population.

Zakirova D et al.

Turk Kardiyoloji Dernegi Arsivi : Turk Kardiyoloji Derneginin Yayin Organidir, 2024

Evaluation of angiotensin converting enzyme insertion/deletion, alpha adducin (ADD1) G460W, and IL-10 gene polymorphisms, and determination of prognostic effects in idiopathic sudden sensorineural hearing loss.

Akın V et al.

Journal of Otology, 2024

Genetic Factors Contributing to the Pathogenesis of Essential Hypertension in Two African Populations.

Kalideen K et al.

Journal of Personalized Medicine, 2024

38541065 (PubMed )
Supplement: jpm-14-00323-s001.zip › jpm-2900250-supplementary.pdf

The prevalence and linkage disequilibrium of 21 genetic variations related to thrombophilia, folate cycle, and hypertension in reproductive age women of Rostov region (Russia).

Bordaeva OY et al.

Annals of Human Genetics, 2024

Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.

Yang N et al.

Bmc Pediatrics, 2024

38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter

Alpha-adducin 1 (rs4961) gene and its expression associated with sodium sensitivity in hypertensive patients: a cohort study in the western Ukrainian population.

Sydorchuk L et al.

Endocrine Regulations, 2024

Whole exome sequencing identifies genetic markers of enterovirus susceptibility in East Asians.

Sung CC et al.

Frontiers in Microbiology, 2024

39234544 (PubMed )
Supplement: Data_Sheet_2.xlsx › worksheet

adducin 1 is essential for the survival of erythroid precursors via regulating p53 transcription in zebrafish.

Yang S et al.

Iscience, 2023

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

Karabaeva RZ et al.

Frontiers in Molecular Biosciences, 2023

Identification of genetic variants related to metabolic syndrome by next-generation sequencing.

Lee S et al.

Diabetology & Metabolic Syndrome, 2022

Genetics of Familial Combined Hyperlipidemia (FCHL) Disorder: An Update.

Taghizadeh E et al.

Biochemical Genetics, 2022

The adducin saga: pleiotropic genomic targets for precision medicine in human hypertension-vascular, renal, and cognitive diseases.

Gonzalez-Fernandez E et al.

Physiological Genomics, 2022

Variants in ADD1 cause intellectual disability, corpus callosum dysgenesis, and ventriculomegaly in humans.

Qi C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

ADD1 Single Nucleotide Polymorphisms Are Associated With Essential Hypertension Among Han and Mongolian Population in Inner Mongolia Area.

Zhang Y et al.

Frontiers in Genetics, 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

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

Lysine acetylation regulates the interaction between proteins and membranes.

Okada AK et al.

Nature Communications, 2021

34753925 (PubMed )
Supplement: 41467_2021_26657_MOESM4_ESM.zip › Bioinformatics.zip › Datasets › Unused › PTMVAR_download.xlsx › Humsavar_overlap_2PSP_PTM5-14-1

Association Analysis of Candidate Gene Polymorphisms and Tinnitus in Young Musicians.

Bhatt IS et al.

Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2021

Pharmacogenetic polymorphisms affecting bisoprolol response.

Castaño-Amores C et al.

Biomedicine & Pharmacotherapy = Biomedecine & Pharmacotherapie, 2021

A synergetic effect of BARD1 mutations on tumorigenesis.

Li W et al.

Nature Communications, 2021

33623049 (PubMed )
Supplement: 41467_2021_21519_MOESM5_ESM.xlsx › sheet1

Could ionic regulation disorders explain the overlap between meniere's disease and migraine?

Teggi R et al.

Journal of Vestibular Research : Equilibrium & Orientation, 2021

The Association between Gly460Trp-Polymorphism of Alpha-Adducin 1 Gene (ADD1) and Arterial Hypertension Development in Ukrainian Population.

Yermolenko S et al.

International Journal of Hypertension, 2021

Genetic Variants behind Cardiovascular Diseases and Dementia.

Ho WM et al.

Genes, 2020

Redundant meta-analyses are common in genetic epidemiology.

Sigurdson MK et al.

Journal of Clinical Epidemiology, 2020

Pharmacogenomics of Hypertension Treatment.

Rysz J et al.

International Journal of Molecular Sciences, 2020

Genetic Risk Factors of Intracranial Atherosclerosis.

Liu M et al.

Current Atherosclerosis Reports, 2020

Association of CYP11B2 gene polymorphism with preeclampsia in north east of Iran (Khorasan province).

Azimi-Nezhad M et al.

Gene, 2020

A Mutation in γ-Adducin Impairs Autoregulation of Renal Blood Flow and Promotes the Development of Kidney Disease.

Fan F et al.

Journal of the American Society of Nephrology : Jasn, 2020

Sodium sensitivity of blood pressure in Chinese populations.

Liu Y et al.

Journal of Human Hypertension, 2020

Hypertension in High School Students: Genetic and Environmental Factors: The HYGEF Study.

Bigazzi R et al.

Hypertension (dallas, Tex. : 1979), 2020

The Identification of Admixture Patterns Could Refine Pharmacogenetic Counseling: Analysis of a Population-Based Sample in Mexico.

Martínez-Magaña JJ et al.

Frontiers in Pharmacology, 2020

Hereditary Haemorrhagic Telangiectasia (HHT) Marked by ACVRL1C1120T Variant Displays Hypopigmented Naevi and Frequent Bleeding Episodes if CYP2C9 Co-Mutated: Clinical Notes & Rationale of Patient Registry.

Minarik L et al.

Folia Biologica, 2020

Analysis of Differentially Expressed Genes and Molecular Pathways in Familial Hypercholesterolemia Involved in Atherosclerosis: A Systematic and Bioinformatics Approach.

Udhaya Kumar S et al.

Frontiers in Genetics, 2020

Pharmacogenomics of amlodipine and hydrochlorothiazide therapy and the quest for improved control of hypertension: a mini review.

Johnson R et al.

Heart Failure Reviews, 2019

Association between α-adducin rs4961 polymorphism and hypertension: A meta-analysis based on 40 432 subjects.

Jin H et al.

Journal of Cellular Biochemistry, 2019

30552709 (PubMed )
Supplement: supplement_1.docx

Host genetic variants in sepsis risk: a field synopsis and meta-analysis.

Lu H et al.

Critical Care (london, England), 2019

30683156 (PubMed )
Supplement: 13054_2019_2313_MOESM3_ESM.docx

Genetic Variants in ADD1 Gene and their Associations with Growth Traits in Cattle.

Huang YZ et al.

Animal Biotechnology, 2019

Alpha Adducin (ADD1) Gene Polymorphism and New Onset of Diabetes Under the Influence of Selective Antihypertensive Therapy in Essential Hypertension.

Gupta S et al.

Current Hypertension Reviews, 2019

Angiotensin Converting Enzyme Gene Insertion/Deletion Polymorphism Is Not Responsible for Antihypertensive Therapy Induced New Onset of Type 2 Diabetes in Essential Hypertension.

Jhawat V et al.

Clinical Medicine Insights. Endocrinology and Diabetes, 2019

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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."