Varaico: Literature-Extracted Genetic Variants

Gene:CD33
Variant:p.A14V
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CD33

NM_001772.4:p.A14V

Associated Papers

PSEN1 His214Asn Mutation in a Korean Patient with Familial EOAD and the Importance of Histidine-Tryptophan Interactions in TM-4 Stability.

Bagyinszky E et al.

International Journal of Molecular Sciences, 2023

38203287 (PubMed )
Supplement: ijms-25-00116-s001.zip › ijms-2769595-supplementary.pdf

Multiplex Base Editing to Protect from CD33-Directed Therapy: Implications for Immune and Gene Therapy.

Borot F et al.

Biorxiv : the Preprint Server for Biology, 2023

Alzheimer's Disease-Associated Alternative Splicing of CD33 Is Regulated by the HNRNPA Family Proteins.

Komuro R et al.

Cells, 2023

PSEN2 Thr421Met Mutation in a Patient with Early Onset Alzheimer's Disease.

Yang Y et al.

International Journal of Molecular Sciences, 2022

Genomics and Functional Genomics of Alzheimer's Disease.

Kamboh MI

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2022

No Evidence that CD33 rs12459419 Polymorphism Predicts Gemtuzumab Ozogamicin Response in Consolidation Treatment of Acute Myeloid Leukemia Patients: Experience of the PETHEMA Group.

Castaño-Bonilla T et al.

Disease Markers, 2022

Dementia-related genetic variants in an Italian population of early-onset Alzheimer's disease.

Bartoletti-Stella A et al.

Frontiers in Aging Neuroscience, 2022

36133075 (PubMed )
Supplement: Table_1.XLSX › AD_006_N

Cluster of differentiation 33 single nucleotide polymorphism rs12459419 is a predictive factor in patients with nucleophosmin1-mutated acute myeloid leukemia receiving gemtuzumab ozogamicin.

Teich K et al.

Haematologica, 2021

Time to reconsider CD33 single nucleotide polymorphism in the response to gemtuzumab ozogamicin.

Lamba JK et al.

Haematologica, 2021

A Pathogenic Presenilin-1 Val96Phe Mutation from a Malaysian Family.

Bagyinszky E et al.

Brain Sciences, 2021

34679393 (PubMed )
Supplement: brainsci-11-01328-s001.zip › brainsci-1394263-supplementary.pdf

Genome-wide meta-analysis, fine-mapping and integrative prioritization implicate new Alzheimer's disease risk genes.

Schwartzentruber J et al.

Nature Genetics, 2021

Biomarkers of Gemtuzumab Ozogamicin Response for Acute Myeloid Leukemia Treatment.

Fenwarth L et al.

International Journal of Molecular Sciences, 2020

Investigating APOE, APP-Aβ metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease.

Blumenau S et al.

Scientific Reports, 2020

Genomic profiling of colorectal cancer with isolated lung metastasis.

Zhang N et al.

Cancer Cell International, 2020

32624706 (PubMed )
Supplement: 12935_2020_1373_MOESM3_ESM.xlsx › Sheet1

Translating Alzheimer's disease-associated polymorphisms into functional candidates: a survey of IGAP genes and SNPs.

Katsumata Y et al.

Neurobiology of Aging, 2019

Tumor Sequencing and Patient-Derived Xenografts in the Neoadjuvant Treatment of Breast Cancer.

Goetz MP et al.

Journal of the National Cancer Institute, 2017

28376176 (PubMed )
Supplement: djw306_Supp.zip › 16-0785R2_Goetz_Supplementary_Tables_3-6_111716.xlsx › Suppl_Table_5m

Large-Scale Exome-wide Association Analysis Identifies Loci for White Blood Cell Traits and Pleiotropy with Immune-Mediated Diseases.

Tajuddin SM et al.

American Journal of Human Genetics, 2016

The chronological sequence of somatic mutations in early gastric carcinogenesis inferred from multiregion sequencing of gastric adenomas.

Lim CH et al.

Oncotarget, 2016

27175599 (PubMed )
Supplement: oncotarget-07-39758-s006.xlsx › TableS5

Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets.

Witkiewicz AK et al.

Nature Communications, 2015

25855536 (PubMed )
Supplement: ncomms7744-s2.xlsx › MUTATIONS_ALL_CASES

Clinical significance of CD33 nonsynonymous single-nucleotide polymorphisms in pediatric patients with acute myeloid leukemia treated with gemtuzumab-ozogamicin-containing chemotherapy.

Mortland L et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2013

Coding polymorphisms in CD33 and response to gemtuzumab ozogamicin in pediatric patients with AML: a pilot study.

Lamba JK et al.

Leukemia, 2009

Japanese single nucleotide polymorphism database for 267 possible drug-related genes.

Iida A et al.

Cancer Science, 2006

[SNP collection, pharmacogenomics, and the future of drug therapy].

Iida A et al.

Gan to Kagaku Ryoho. Cancer & Chemotherapy, 2002

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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."