Varaico: Literature-Extracted Genetic Variants

Gene:ELAC2
Variant:p.A541T
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ELAC2

NM_018127.7:p.A541T

Associated Papers

Ribonuclease RNase Z is an evolutionarily conserved deAMPylase.

Mukherjee M et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

Ribonucleases in Mendelian disease: Characterization and insight from model organisms.

Dutta A et al.

Genes & Diseases, 2025

Structural insights into human ELAC2 as a tRNA 3' processing enzyme.

Xue C et al.

Nucleic Acids Research, 2024

Human Cytochrome P450 Cancer-Related Metabolic Activities and Gene Polymorphisms: A Review.

Mokhosoev IM et al.

Cells, 2024

Illuminating mitochondrial translation through mouse models.

Hughes LA et al.

Human Molecular Genetics, 2024

Characteristics of germline DNA damage response gene mutations in ovarian cancer in Southwest China.

Fu K et al.

Scientific Reports, 2024

38509102 (PubMed )
Supplement: 41598_2024_52707_MOESM2_ESM.xlsx › mutation

Mutation characteristics of cancer susceptibility genes in Chinese ovarian cancer patients.

Wang J et al.

Frontiers in Oncology, 2024

38817903 (PubMed )
Supplement: Table_3.xlsx › Sheet1

Multi-omic profiling reveals an RNA processing rheostat that predisposes to prostate cancer.

Stentenbach M et al.

Embo Molecular Medicine, 2023

Over-Mutated Mitochondrial, Lysosomal and TFEB-Regulated Genes in Parkinson's Disease.

Segur-Bailach E et al.

Journal of Clinical Medicine, 2022

35330074 (PubMed )
Supplement: jcm-11-01749-s001.zip › Supl_Table_S1.pdf

Germline variant screening with targeted next generation sequencing in prostate cancer: phenotype-genotype correlation.

Çakır AY et al.

Turkish Journal of Medical Sciences, 2022

Carriage of Ser217Leu and Ala541Thr Variants of ELAC2 Gene and Risk Factors in Patients with Prostate Cancer in Burkina Faso.

Traoré ADD et al.

Prostate Cancer, 2022

A Study of Ser217Leu and Ala541Thr Polymorphism in the Men Afflicted with Prostate Cancer and in the Men being Suspicious of Prostate Cancer.

Zahiri Z et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2020

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.

Tan J et al.

Ebiomedicine, 2020

32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants

Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.

Saoura M et al.

Human Mutation, 2019

Prevalence of the Ser217Leu Variant of the ELAC2 Gene and Its Association with Prostate Cancer in Population of the Littoral Region of Cameroon.

Djomkam ALZ et al.

Prostate Cancer, 2019

Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics.

John SE et al.

Scientific Reports, 2018

Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal Australians.

Tang D et al.

Scientific Reports, 2018

30026549 (PubMed )
Supplement: 41598_2018_29279_MOESM1_ESM.pdf

The molecular biology of prostate cancer: current understanding and clinical implications.

Gandhi J et al.

Prostate Cancer and Prostatic Diseases, 2018

The crystal structure of Trz1, the long form RNase Z from yeast.

Ma M et al.

Nucleic Acids Research, 2017

Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine.

Fang H et al.

Bmc Medical Genomics, 2017

28228131 (PubMed )
Supplement: 12920_2017_246_MOESM2_ESM.pdf

Cysteine Supplementation May be Beneficial in a Subgroup of Mitochondrial Translation Deficiencies.

Bartsakoulia M et al.

Journal of Neuromuscular Diseases, 2016

Prognostic role of genetic biomarkers in clinical progression of prostate cancer.

Alvarez-Cubero MJ et al.

Experimental & Molecular Medicine, 2015

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Karageorgos I et al.

Human Genomics, 2015

26092435 (PubMed )
Supplement: 40246_2015_34_MOESM1_ESM.xlsx › FamilyA

Prostate Cancer Genetics: A Review.

Wallis CJ et al.

Ejifcc, 2015

Disease variants in genomes of 44 centenarians.

Freudenberg-Hua Y et al.

Molecular Genetics & Genomic Medicine, 2014

Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.

Taylor RW et al.

Jama, 2014

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.

Haack TB et al.

American Journal of Human Genetics, 2013

Genome-wide testing of putative functional exonic variants in relationship with breast and prostate cancer risk in a multiethnic population.

Haiman CA et al.

Plos Genetics, 2013

Sequencing and analysis of a South Asian-Indian personal genome.

Gupta R et al.

Bmc Genomics, 2012

Polymorphisms in the HPC/ELAC-2 and alpha 1-antitrypsin genes that correlate with human diseases in a North Indian population.

Sobti RC et al.

Molecular Biology Reports, 2011

Polymorphisms of HPC2/ELAC2 and SRD5A2 (5α-Reductase Type II) Genes in Prostate Cancer.

Izmirli M et al.

Balkan Journal of Medical Genetics : Bjmg, 2011

Associations of polymorphisms in HPC2/ELAC2 and SRD5A2 genes with benign prostate hyperplasia in Turkish men.

Izmirli M et al.

Asian Pacific Journal of Cancer Prevention : Apjcp, 2011

ELAC2 polymorphisms and prostate cancer risk: a meta-analysis based on 18 case-control studies.

Xu B et al.

Prostate Cancer and Prostatic Diseases, 2010

Single and multivariate associations of MSR1, ELAC2, and RNASEL with prostate cancer in an ethnic diverse cohort of men.

Beuten J et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2010

Association of HPC2/ELAC2 and RNASEL non-synonymous variants with prostate cancer risk in African American familial and sporadic cases.

Robbins CM et al.

The Prostate, 2008

Sequence variants of elaC homolog 2 (Escherichia coli) (ELAC2) gene and susceptibility to prostate cancer in the Health Professionals Follow-Up Study.

Chen YC et al.

Carcinogenesis, 2008

Systematic replication study of reported genetic associations in prostate cancer: Strong support for genetic variation in the androgen pathway.

Lindström S et al.

The Prostate, 2006

Association of hereditary prostate cancer gene polymorphic variants with sporadic aggressive prostate carcinoma.

Noonan-Wheeler FC et al.

The Prostate, 2006

Residues in the conserved His domain of fruit fly tRNase Z that function in catalysis are not involved in substrate recognition or binding.

Zareen N et al.

Journal of Molecular Biology, 2005

The missense mutations in the candidate prostate cancer gene ELAC2 do not alter enzymatic properties of its product.

Minagawa A et al.

Cancer Letters, 2005

Characterization of TRZ1, a yeast homolog of the human candidate prostate cancer susceptibility gene ELAC2 encoding tRNase Z.

Chen Y et al.

Bmc Molecular Biology, 2005

Characterization of linkage disequilibrium structure, mutation history, and tagging SNPs, and their use in association analyses: ELAC2 and familial early-onset prostate cancer.

Camp NJ et al.

Genetic Epidemiology, 2005

Association of susceptibility alleles in ELAC2/HPC2, RNASEL/HPC1, and MSR1 with prostate cancer severity in European American and African American men.

Rennert H et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2005

Genetic linkage of prostate cancer risk to the chromosome 3 region bearing FHIT.

Larson GP et al.

Cancer Research, 2005

HPC2/ELAC2 polymorphism associated with Japanese sporadic prostate cancer.

Yokomizo A et al.

The Prostate, 2004

An evolutionary perspective on single-nucleotide polymorphism screening in molecular cancer epidemiology.

Zhu Y et al.

Cancer Research, 2004

Genetic polymorphisms and prostate cancer risk.

Gsur A et al.

World Journal of Urology, 2004

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