| Identification of new variants in MTRNR1 and MTRNR2 genes using whole mitochondrial genome sequencing in a Taiwanese family with MERRF (myoclonic epilepsy with ragged-red fibers) syndrome. | Identification of new variants in MTRNR1 and MTRNR2 genes using whole mitochondrial genome sequencing in a Taiwanese family with MERRF (myoclonic epilepsy with ragged-red fibers) syndrome.
Wu YT, Huang SC, Shiao YM, Syu WC, Wei YH, Hsu YC. | 09/19/2023 |
| The mitochondrial derived peptide humanin is a regulator of lifespan and healthspan. | The mitochondrial derived peptide humanin is a regulator of lifespan and healthspan.
Yen K, Mehta HH, Kim SJ, Lue Y, Hoang J, Guerrero N, Port J, Bi Q, Navarrete G, Brandhorst S, Lewis KN, Wan J, Swerdloff R, Mattison JA, Buffenstein R, Breton CV, Wang C, Longo V, Atzmon G, Wallace D, Barzilai N, Cohen P., Free PMC Article | 03/13/2021 |
| Serum levels of humanin (MT-RNR2) are lower in women with gestational diabetes mellitus than in control women. | Comparison of serum concentrations of humanin in women with and without gestational diabetes mellitus.
Ma Y, Li S, Wei X, Huang J, Lai M, Wang N, Huang Q, Zhao L, Peng Y, Wang Y. | 03/16/2019 |
| serum humanin concentrations increased in women with pre-eclampsia, compared to women with uncomplicated pregnancies | Serum humanin concentrations in women with pre-eclampsia compared to women with uncomplicated pregnancies.
Nikolakopoulos P, Tzimagiorgis G, Goulis DG, Chatzopoulou F, Zepiridis L, Vavilis D. | 10/27/2018 |
| Levels of lactate and mitochondrial pyruvate carrier (MPC1) mRNA were determined to scrutinize the prevalence of aerobic glycolysis..MT-RNR2 plays its anti-apoptotic role partly by avoiding deploying energy from complete oxidation of organic compounds to inorganic wastes. Thus MT-RNR2 can potentially serve as a new biomarker in the diagnosis of bladder carcinoma especially that it is present in blood circulation | Breaking the ritual metabolic cycle in order to save acetyl CoA: A potential role for mitochondrial humanin in T2 bladder cancer aggressiveness.
Omar NN, Tash RF, Shoukry Y, ElSaeed KO. | 03/17/2018 |
| highly disruptive 16S rRNA mutations are present in clinical samples | The presence of highly disruptive 16S rRNA mutations in clinical samples indicates a wider role for mutations of the mitochondrial ribosome in human disease.
Elson JL, Smith PM, Greaves LC, Lightowlers RN, Chrzanowska-Lightowlers ZM, Taylor RW, Vila-Sanjurjo A., Free PMC Article | 10/1/2016 |
| Data show methylation status of two mitochondrial genes MT-RNR1 and MT-RNR2 encoding for mitochondrial 12S and 16S ribosomal RNAs, respectively. | Age-and gender-related pattern of methylation in the MT-RNR1 gene.
D'Aquila P, Giordano M, Montesanto A, De Rango F, Passarino G, Bellizzi D. | 08/13/2016 |
| Mitochondrial gene mutations may cause late-onset, progressive, and ski-sloping sensorineural hearing loss. | High-frequency involved hearing loss caused by novel mitochondrial DNA mutation in 16S ribosomal RNA gene.
Abe S, Nagano M, Nishio SY, Kumakawa K, Usami S. | 02/14/2015 |
| This study reports a mitochondrial 16S rRNA 2336T>C mutation that is associated with maternally inherited hypertrophic cardiomyopathy combined with atrioventricular block. | The novel mitochondrial 16S rRNA 2336T>C mutation is associated with hypertrophic cardiomyopathy.
Liu Z, Song Y, Li D, He X, Li S, Wu B, Wang W, Gu S, Zhu X, Wang X, Zhou Q, Dai Y, Yan Q., Free PMC Article | 12/20/2014 |
| Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) | Involvement of mitochondrial DNA sequence variations and respiratory activity in late complications following radiotherapy.
Alsbeih GA, Al-Harbi NM, El-Sebaie MM, Al-Rajhi NM, Al-Hadyan KS, Abu-Amero KK. | 01/20/2010 |
| Results show that the mitochondrial 16S rRNA T414G mutation does not cause per se any detectable bioenergetic changes. | Cosegregation of novel mitochondrial 16S rRNA gene mutations with the age-associated T414G variant in human cybrids.
Seibel P, Di Nunno C, Kukat C, Schäfer I, Del Bo R, Bordoni A, Comi GP, Schön A, Capuano F, Latorre D, Villani G., Free PMC Article | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (5) articlesMitochondrial DNA and gastrointestinal motor and sensory functions in health and functional gastrointestinal disorders.
Camilleri M, Carlson P, Zinsmeister AR, McKinzie S, Busciglio I, Burton D, Zaki EA, Boles RG. Comprehensive analysis of common mitochondrial DNA variants and colorectal cancer risk.
Webb E, Broderick P, Chandler I, Lubbe S, Penegar S, Tomlinson IP, Houlston RS. [Study on the mitochondrial DNA variation in patients with type 2 diabetes mellitus].
Ji JZ, Lu JX, Ye W, Hu X, Wang DW. Mitochondrial polymorphisms as risk factors for endometrial cancer in southwest China.
Xu L, Hu Y, Chen B, Tang W, Han X, Yu H, Xiao C. The G1888A variant in the mitochondrial 16S rRNA gene may be associated with Type 2 diabetes in Caucasian-Brazilian patients from southern Brazil.
Crispim D, Canani LH, Gross JL, Carlessi RM, Tschiedel B, Souto KE, Roisenberg I. | 03/13/2008 |
| Observational study of genetic testing. (HuGE Navigator) | See all PubMed (2) articles | 03/13/2008 |
| analysis of novel de novo mutation in the 16S ribosomal RNA, a nucleotide which is highly conserved in different species, that may impair mitochondrial protein synthesis and would cause a severe myopathy | A novel mutation 3090 G>A of the mitochondrial 16S ribosomal RNA associated with myopathy.
Coulbault L, Deslandes B, Herlicoviez D, Read MH, Leporrier N, Schaeffer S, Mouadil A, Lombès A, Chapon F, Jauzac P, Allouche S. | 01/21/2010 |
| A hitherto unknown heteroplasmic mutation at position C2839A base pair in the 16s rRNA region of the mitochondrial genome was evident only in Dupuytren's contracture patients (90%) & may be important in its pathogenesis. | Identification of a novel mitochondrial mutation in Dupuytren's disease using multiplex DHPLC.
Bayat A, Walter J, Lambe H, Watson JS, Stanley JK, Marino M, Ferguson MW, Ollier WE. | 01/21/2010 |
| Humanin expression may reflect a physiological response against degenerative changes in the muscles of patients with chronic progressive external ophthalmoplegia | Humanin expression in skeletal muscles of patients with chronic progressive external ophthalmoplegia.
Kin T, Sugie K, Hirano M, Goto YI, Nishino I, Ueno S. | 01/21/2010 |
| The long HN cDNA sequence is virtually identical to mitochondrial rRNA (GenBank accession no. AB055387); see erratum for additional details. | A rescue factor abolishing neuronal cell death by a wide spectrum of familial Alzheimer's disease genes and Abeta.
Hashimoto Y, Niikura T, Tajima H, Yasukawa T, Sudo H, Ito Y, Kita Y, Kawasumi M, Kouyama K, Doyu M, Sobue G, Koide T, Tsuji S, Lang J, Kurokawa K, Nishimoto I., Free PMC Article | 06/15/2005 |
| Solution structure of humanin peptide. | Solution structure of humanin, a peptide against Alzheimer's disease-related neurotoxicity.
Benaki D, Zikos C, Evangelou A, Livaniou E, Vlassi M, Mikros E, Pelecanou M. | 01/21/2010 |