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Results: 1 to 20 of 95

1.

The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.

Smith PM, Elson JL, Greaves LC, Wortmann SB, Rodenburg RJ, Lightowlers RN, Chrzanowska-Lightowlers ZM, Taylor RW, Vila-Sanjurjo A.

Hum Mol Genet. 2014 Feb 15;23(4):949-67. doi: 10.1093/hmg/ddt490. Epub 2013 Oct 2.

PMID:
24092330
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

Frequency and spectrum of mitochondrial 12S rRNA variants in 440 Han Chinese hearing impaired pediatric subjects from two otology clinics.

Shen Z, Zheng J, Chen B, Peng G, Zhang T, Gong S, Zhu Y, Zhang C, Li R, Yang L, Zhou J, Cai T, Jin L, Lu J, Guan MX.

J Transl Med. 2011 Jan 4;9:4. doi: 10.1186/1479-5876-9-4.

PMID:
21205314
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

Mutations of mitochondrial 12S rRNA in gastric carcinoma and their significance.

Han CB, Ma JM, Xin Y, Mao XY, Zhao YJ, Wu DY, Zhang SM, Zhang YK.

World J Gastroenterol. 2005 Jan 7;11(1):31-5.

PMID:
15609392
[PubMed - indexed for MEDLINE]
Free PMC Article
4.

Genetic mutations of GJB2 and mitochondrial 12S rRNA in nonsyndromic hearing loss in Jiangsu Province of China.

Wei Q, Wang S, Yao J, Lu Y, Chen Z, Xing G, Cao X.

J Transl Med. 2013 Jul 4;11:163. doi: 10.1186/1479-5876-11-163.

PMID:
23826813
[PubMed - indexed for MEDLINE]
Free PMC Article
5.

[Mutation analysis of mitochondrial 12S rRNA gene G709A in a maternally inherited pedigree with non-syndromic deafness].

Wei Q, Lu Y, Zhang Y, Chen Z, Xing G, Cao X.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2009 Dec;26(6):610-4. doi: 10.3760/cma.j.issn.1003-9406.2009.06.002. Chinese.

PMID:
19953480
[PubMed - indexed for MEDLINE]
6.

Mitochondrial 12S rRNA gene mutations affect RNA secondary structure and lead to variable penetrance in hearing impairment.

Ballana E, Morales E, Rabionet R, Montserrat B, Ventayol M, Bravo O, Gasparini P, Estivill X.

Biochem Biophys Res Commun. 2006 Mar 24;341(4):950-7. Epub 2006 Jan 24.

PMID:
16458854
[PubMed - indexed for MEDLINE]
7.

Human ERAL1 is a mitochondrial RNA chaperone involved in the assembly of the 28S small mitochondrial ribosomal subunit.

Dennerlein S, Rozanska A, Wydro M, Chrzanowska-Lightowlers ZM, Lightowlers RN.

Biochem J. 2010 Sep 15;430(3):551-8. doi: 10.1042/BJ20100757.

PMID:
20604745
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Mutation in TRMU related to transfer RNA modification modulates the phenotypic expression of the deafness-associated mitochondrial 12S ribosomal RNA mutations.

Guan MX, Yan Q, Li X, Bykhovskaya Y, Gallo-Teran J, Hajek P, Umeda N, Zhao H, Garrido G, Mengesha E, Suzuki T, del Castillo I, Peters JL, Li R, Qian Y, Wang X, Ballana E, Shohat M, Lu J, Estivill X, Watanabe K, Fischel-Ghodsian N.

Am J Hum Genet. 2006 Aug;79(2):291-302. Epub 2006 Jun 22.

PMID:
16826519
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

[Mitochondrial 12S rRNA variants studies in 456 subjects with hearing loss in seven schools for deaf and mutes in Zhejiang province].

Peng GH, Fang F, Zheng J, Zheng BJ, Yu X, Wu Y, Liang LZ, Zhang QM, Zhu Y, Tang XW, Chen BB.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2012 Dec;47(12):996-1003. Chinese.

PMID:
23328039
[PubMed - indexed for MEDLINE]
10.
11.

Identification of Neurospora mitochondrial promoters and analysis of synthesis of the mitochondrial small rRNA in wild-type and the promoter mutant [poky].

Kubelik AR, Kennell JC, Akins RA, Lambowitz AM.

J Biol Chem. 1990 Mar 15;265(8):4515-26.

PMID:
1689728
[PubMed - indexed for MEDLINE]
Free Article
12.

Precise localization and nucleotide sequence of the two mouse mitochondrial rRNA genes and three immediately adjacent novel tRNA genes.

Van Etten RA, Walberg MW, Clayton DA.

Cell. 1980 Nov;22(1 Pt 1):157-70.

PMID:
7428037
[PubMed - indexed for MEDLINE]
13.

Screening of the general Polish population for deafness-associated mutations in mitochondrial 12S rRNA and tRNA Ser(UCN) genes.

Rydzanicz M, Wróbel M, Cywińska K, Froehlich D, Gawecki W, Szyfter W, Szyfter K.

Genet Test Mol Biomarkers. 2009 Apr;13(2):167-72. doi: 10.1089/gtmb.2008.0098.

PMID:
19371214
[PubMed - indexed for MEDLINE]
14.

Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA.

Ruiz-Pesini E, Wallace DC.

Hum Mutat. 2006 Nov;27(11):1072-81.

PMID:
16947981
[PubMed - indexed for MEDLINE]
15.

Trans-splicing and RNA editing of LSU rRNA in Diplonema mitochondria.

Valach M, Moreira S, Kiethega GN, Burger G.

Nucleic Acids Res. 2014 Feb;42(4):2660-72. doi: 10.1093/nar/gkt1152. Epub 2013 Nov 19.

PMID:
24259427
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Mutational analysis of the mitochondrial 12S rRNA and tRNASer(UCN) genes in Tunisian patients with nonsyndromic hearing loss.

Mkaouar-Rebai E, Tlili A, Masmoudi S, Louhichi N, Charfeddine I, Ben Amor M, Lahmar I, Driss N, Drira M, Ayadi H, Fakhfakh F.

Biochem Biophys Res Commun. 2006 Feb 24;340(4):1251-8. Epub 2006 Jan 5.

PMID:
16406239
[PubMed - indexed for MEDLINE]
17.
18.

The fragmented mitochondrial ribosomal RNAs of Plasmodium falciparum.

Feagin JE, Harrell MI, Lee JC, Coe KJ, Sands BH, Cannone JJ, Tami G, Schnare MN, Gutell RR.

PLoS One. 2012;7(6):e38320. doi: 10.1371/journal.pone.0038320. Epub 2012 Jun 22.

PMID:
22761677
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Mitochondrial 12S rRNA susceptibility mutations in aminoglycoside-associated and idiopathic bilateral vestibulopathy.

Elstner M, Schmidt C, Zingler VC, Prokisch H, Bettecken T, Elson JL, Rudolph G, Bender A, Halmagyi GM, Brandt T, Strupp M, Klopstock T.

Biochem Biophys Res Commun. 2008 Dec 12;377(2):379-83. doi: 10.1016/j.bbrc.2008.09.134. Epub 2008 Oct 11.

PMID:
18851951
[PubMed - indexed for MEDLINE]
20.

[Analysis of mitochondrial 12S rRNA and tRNA(Ser(UCN)) genes in patients with nonsyndromic sensorineural hearing loss from various regions of Russia].

Dzhemileva LU, Posukh OL, Tazetdinov AM, Barashkov NA, Zhuravskiĭ SG, Ponidelko SN, Markova TG, Tadinova VN, Fedorova SA, Maksimova NR, Khusnutdinova EK.

Genetika. 2009 Jul;45(7):982-91. Russian.

PMID:
19705751
[PubMed - indexed for MEDLINE]
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