| ELAC2 is a functional prostate cancer risk allele. | ELAC2 is a functional prostate cancer risk allele.
Blinka S, Mishra R, Hsieh AC., | 09/6/2023 |
| A Study of Ser217Leu and Ala541Thr Polymorphism in the Men Afflicted with Prostate Cancer and in the Men being Suspicious of Prostate Cancer. | 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, Zahiri F., Free PMC Article | 04/17/2021 |
| Our study thus broadly confirms the correlation of ELAC2 variants with severe infantile-onset forms of HCM and mitochondrial respiratory chain dysfunction. | Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing.
Saoura M, Powell CA, Kopajtich R, Alahmad A, Al-Balool HH, Albash B, Alfadhel M, Alston CL, Bertini E, Bonnen PE, Bratkovic D, Carrozzo R, Donati MA, Di Nottia M, Ghezzi D, Goldstein A, Haan E, Horvath R, Hughes J, Invernizzi F, Lamantea E, Lucas B, Pinnock KG, Pujantell M, Rahman S, Rebelo-Guiomar P, Santra S, Verrigni D, McFarland R, Prokisch H, Taylor RW, Levinger L, Minczuk M., Free PMC Article | 03/14/2020 |
| This study describes the cardiac phenotype and outcome of ELAC2 mutation in Infantile Cardiomyopathy | The Phenotype and Outcome of Infantile Cardiomyopathy Caused by a Homozygous ELAC2 Mutation.
Shinwari ZMA, Almesned A, Alakhfash A, Al-Rashdan AM, Faqeih E, Al-Humaidi Z, Alomrani A, Alghamdi M, Colak D, Alwadai A, Rababh M, Al-Fayyadh M, Al-Hassnan ZN. | 08/18/2018 |
| ELAC2 rs11545302 polymorphism was associated with PSA > 20 and rs4792311 was associated with TNM > 2. | Association between RNASEL, MSR1, and ELAC2 single nucleotide polymorphisms and gene expression in prostate cancer risk.
Alvarez-Cubero MJ, Pascual-Geler M, Martinez-Gonzalez LJ, Expósito Ruiz M, Saiz M, Cozar JM, Lorente JA. | 01/6/2018 |
| A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement | A homozygous splicing mutation in ELAC2 suggests phenotypic variability including intellectual disability with minimal cardiac involvement.
Akawi NA, Ben-Salem S, Hertecant J, John A, Pramathan T, Kizhakkedath P, Ali BR, Al-Gazali L., Free PMC Article | 11/11/2017 |
| ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy. | ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy.
Haack TB, Kopajtich R, Freisinger P, Wieland T, Rorbach J, Nicholls TJ, Baruffini E, Walther A, Danhauser K, Zimmermann FA, Husain RA, Schum J, Mundy H, Ferrero I, Strom TM, Meitinger T, Taylor RW, Minczuk M, Mayr JA, Prokisch H., Free PMC Article | 12/21/2013 |
| results indicate that ELAC2 functions as a tRNase Z in human mitochondria and suggest that mt-tRNase Z preferentially cleaves molecules already processed by the proteinaceous mtRNase P | Involvement of human ELAC2 gene product in 3' end processing of mitochondrial tRNAs.
Brzezniak LK, Bijata M, Szczesny RJ, Stepien PP. | 04/21/2012 |
| ELAC2 and PTCD1 affect the 3' end processing of tRNAs. | RNA processing in human mitochondria.
Sanchez MI, Mercer TR, Davies SM, Shearwood AM, Nygård KK, Richman TR, Mattick JS, Rackham O, Filipovska A. | 03/24/2012 |
| analysis of dual nuclear/mitochondrial targeting of the ELAC2 gene product by alternative translation initiation | Localization of human RNase Z isoforms: dual nuclear/mitochondrial targeting of the ELAC2 gene product by alternative translation initiation.
Rossmanith W., Free PMC Article | 12/3/2011 |
| Data describe polymorphisms in the HPC/ELAC-2 and alpha 1-antitrypsin genes that correlate with human diseases in an Indian population. | Polymorphisms in the HPC/ELAC-2 and alpha 1-antitrypsin genes that correlate with human diseases in a North Indian population.
Sobti RC, Thakur H, Gupta L, Janmeja AK, Seth A, Singh SK, Sobti RC, Thakur H, Gupta L, Janmeja AK, Seth A, Singh SK. | 10/22/2011 |
| ELAC2 polymorphisms are associated with prostate cancer. | ELAC2 polymorphisms and prostate cancer risk: a meta-analysis based on 18 case-control studies.
Xu B, Tong N, Li JM, Zhang ZD, Wu HF, Xu B, Tong N, Li JM, Zhang ZD, Wu HF., Free PMC Articles: PMC2922791, PMC2922791 | 12/4/2010 |
| Observational study of genotype prevalence. (HuGE Navigator) | Population based allele frequencies of disease associated polymorphisms in the Personalized Medicine Research Project.
Cross DS, Ivacic LC, Stefanski EL, McCarty CA., Free PMC Article | 09/15/2010 |
| Our findings corroborate the involvement of ELAC2, MSR1, and RNASEL in the etiology of prostate cancer even in individuals without a family history. | Single and multivariate associations of MSR1, ELAC2, and RNASEL with prostate cancer in an ethnic diverse cohort of men.
Beuten J, Gelfond JA, Franke JL, Shook S, Johnson-Pais TL, Thompson IM, Leach RJ, Beuten J, Gelfond JA, Franke JL, Shook S, Johnson-Pais TL, Thompson IM, Leach RJ., Free PMC Articles: PMC5034730, PMC5034730 | 05/31/2010 |
| Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) | Polymorphisms in the HPC/ELAC-2 and alpha 1-antitrypsin genes that correlate with human diseases in a North Indian population.
Sobti RC, Thakur H, Gupta L, Janmeja AK, Seth A, Singh SK, Sobti RC, Thakur H, Gupta L, Janmeja AK, Seth A, Singh SK. | 04/7/2010 |
| Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator) | Single and multivariate associations of MSR1, ELAC2, and RNASEL with prostate cancer in an ethnic diverse cohort of men.
Beuten J, Gelfond JA, Franke JL, Shook S, Johnson-Pais TL, Thompson IM, Leach RJ, Beuten J, Gelfond JA, Franke JL, Shook S, Johnson-Pais TL, Thompson IM, Leach RJ., Free PMC Articles: PMC5034730, PMC5034730 | 04/7/2010 |
| The present data suggest the possibility that human cytosolic tRNase ZL modulates gene expression through a subset of microRNAs in the cells. | Human cytosolic tRNase ZL can downregulate gene expression through miRNA.
Elbarbary RA, Takaku H, Uchiumi N, Tamiya H, Abe M, Nishida H, Nashimoto M. | 01/21/2010 |
| Changes in K(M) observed with some of the substitutions suggest contacts between tRNase Z and substrate tRNA in this region, and changes in tRNA structure provide an additional basis for interpretation of the kinetic effects.[tRNase Z] | Effects of conserved D/T loop substitutions in the pre-tRNA substrate on tRNase Z catalysis.
Hopkinson A, Levinger L. | 01/21/2010 |
| The findings reveal that 3' end processing is a limiting step for defective tRNA maturation and demonstrate that overexpression of ELAC2 can promote defective tRNA 3' processing in vivo. | Functional conservation of tRNase ZL among Saccharomyces cerevisiae, Schizosaccharomyces pombe and humans.
Zhao Z, Su W, Yuan S, Huang Y. | 01/21/2010 |
| HPC2/ELAC2 and RNASEL may play a role, however minor, in prostate cancer risk among African American men. | Association of HPC2/ELAC2 and RNASEL non-synonymous variants with prostate cancer risk in African American familial and sporadic cases.
Robbins CM, Hernandez W, Ahaghotu C, Bennett J, Hoke G, Mason T, Pettaway CA, Vijayakumar S, Weinrich S, Furbert-Harris P, Dunston G, Powell IJ, Carpten JD, Kittles RA., Free PMC Article | 01/21/2010 |
| Common SNPs and haplotypes of ELAC2 are associated with risk of aggressive prostate cancer. | Sequence variants of elaC homolog 2 (Escherichia coli) (ELAC2) gene and susceptibility to prostate cancer in the Health Professionals Follow-Up Study.
Chen YC, Giovannucci E, Kraft P, J Hunter D., Free PMC Article | 01/21/2010 |
| Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) | Association of HPC2/ELAC2 polymorphisms with risk of prostate cancer in a population-based study.
Stanford JL, Sabacan LP, Noonan EA, Iwasaki L, Shu J, Feng Z, Ostrander EA. | 03/13/2008 |
| Observational study and meta-analysis of gene-disease association. (HuGE Navigator) | ELAC2/HPC2 polymorphisms, prostate-specific antigen levels, and prostate cancer.
Severi G, Giles GG, Southey MC, Tesoriero A, Tilley W, Neufing P, Morris H, English DR, McCredie MR, Boyle P, Hopper JL. | 03/13/2008 |
| Meta-analysis of gene-disease association. (HuGE Navigator) | See all PubMed (2) articlesELAC2 polymorphisms and prostate cancer risk: a meta-analysis based on 18 case-control studies.
Xu B, Tong N, Li JM, Zhang ZD, Wu HF, Xu B, Tong N, Li JM, Zhang ZD, Wu HF. Meta-analysis of associations of the Ser217Leu and Ala541Thr variants in ELAC2 (HPC2) and prostate cancer.
Camp NJ, Tavtigian SV. | 03/13/2008 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | Association of hereditary prostate cancer gene polymorphic variants with sporadic aggressive prostate carcinoma.
Noonan-Wheeler FC, Wu W, Roehl KA, Klim A, Haugen J, Suarez BK, Kibel AS. | 03/13/2008 |