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Items: 1 to 20 of 92

1.

Poor correlation between polar bodies and blastomere mutation load in a patient with m.3243A>G tRNALeu(UUR) point mutation.

Vandewoestyne M, Heindryckx B, De Gheselle S, Lepez T, Neupane J, Gerris J, Van Coster R, De Sutter P, Deforce D.

Mitochondrion. 2012 Jul;12(4):477-9. doi: 10.1016/j.mito.2012.04.002. Epub 2012 May 3. No abstract available.

PMID:
22580239
2.

Polar body mutation load analysis in a patient with A3243G tRNALeu(UUR) point mutation.

Vandewoestyne M, Heindryckx B, Lepez T, Van Coster R, Gerris J, De Sutter P, Deforce D.

Mitochondrion. 2011 Jul;11(4):626-9. doi: 10.1016/j.mito.2011.03.123. Epub 2011 Apr 6.

PMID:
21496500
3.

Search for difference in aminoacylation of mitochondrial DNA-encoded wild-type and mutant human tRNALeu (UUR).

Wang ZC, Wang XM, Jin YX, Jiao BH, Xu F, Miao MY, Zhu KJ.

IUBMB Life. 2003 Mar;55(3):139-44.

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The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study.

Hammans SR, Sweeney MG, Hanna MG, Brockington M, Morgan-Hughes JA, Harding AE.

Brain. 1995 Jun;118 ( Pt 3):721-34.

PMID:
7600089
7.

A new mitochondrial DNA mutation associated with mitochondrial myopathy: tRNA(Leu)(UUR) 3254C-to-G.

Kawarai T, Kawakami H, Kozuka K, Izumi Y, Matsuyama Z, Watanabe C, Kohriyama T, Nakamura S.

Neurology. 1997 Aug;49(2):598-600.

PMID:
9270605
8.

Mitochondrial tRNALeu isoforms in lung carcinoma cybrid cells containing the np 3243 mtDNA mutation.

El Meziane A, Lehtinen SK, Holt IJ, Jacobs HT.

Hum Mol Genet. 1998 Dec;7(13):2141-7.

PMID:
9817933
9.

[Diabetes mellitus with mitochondrial DNA tRNA(Leu)(UUR) mutation at 3256(C-T)].

Hirai M, Suzuki S.

Nihon Rinsho. 1998 Jan;56 Suppl 3:530-3. Review. Japanese. No abstract available.

PMID:
9513474
10.

Maternally inherited diabetes and deafness is a distinct subtype of diabetes and associates with a single point mutation in the mitochondrial tRNA(Leu(UUR)) gene.

van den Ouweland JM, Lemkes HH, Trembath RC, Ross R, Velho G, Cohen D, Froguel P, Maassen JA.

Diabetes. 1994 Jun;43(6):746-51.

PMID:
7910800
11.

Novel cluster of tRNALeu(UUR) mutations in a sporadic case of infantile myopathy restricted to muscle tissue.

Zanssen S, Molnar M, Buse G, Schröder JM.

Neuropediatrics. 2000 Apr;31(2):93-6.

PMID:
10832584
12.

D-glucose metabolism in lymphocytes of patients with mitochondrial point mutation of the tRNALeu(UUR) gene.

Malaisse WJ, Pueyo ME, Nadi AB, Malaisse-Lagae F, Froguel P, Velho G.

Biochem Mol Med. 1995 Apr;54(2):91-5.

PMID:
8581364
13.

[Diabetes mellitus with mitochondrial DNA tRNA(Leu)(UUR) mutation at 3264(T-->C)].

Suzuki Y, Suzuki S.

Nihon Rinsho. 1998 Jan;56 Suppl 3:534-8. Review. Japanese. No abstract available.

PMID:
9513475
14.

Mitochondrial DNA [tRNA(Leu)(UUR)] mutation in a southern Italian diabetic population.

Rigoli L, Di Benedetto A, Romano G, Corica F, Cucinotta D.

Diabetes Care. 1997 Apr;20(4):674-5. No abstract available.

PMID:
9097002
15.

Organ distribution of mutant mitochondrial tRNA(leu(UUR)) gene in a MELAS patient.

Hamazaki S, Koshiba M, Sugiyama T.

Acta Pathol Jpn. 1993 Apr;43(4):187-91.

PMID:
8493868
16.

[Comparison of clinical pictures of mitochondrial encephalomyopathy with tRNA(Leu(UUR)) mutation in 3243 with that in 3254].

Mitsuoka T, Kawarai T, Watanabe C, Katayama S, Nakamura S.

No To Shinkei. 1998 Dec;50(12):1089-92. Review. Japanese.

PMID:
9989353
18.

Extra-pancreatic manifestations in diabetes secondary to mitochondrial DNA point mutation within the tRNALeu(UUR) gene.

Vialettes B, Paquis-Fluckinger V, Silvestre-Aillaud P, Ben Dahan D, Pelissier JF, Etchary-Bouyx F, Raccah D, Gin H, Guillausseau PJ, Vanuxen D, et al.

Diabetes Care. 1995 Jul;18(7):1023-8.

PMID:
7555536
19.

Clinical manifestations due to a point mutation of the mitochondrial tRNAleu(UUR) gene in five families with diabetes mellitus.

Shigemoto M, Yoshimasa Y, Yamamoto Y, Hayashi T, Suga J, Inoue G, Okamoto M, Jingami H, Tsuda K, Yamamoto T, Yagura T, Oishi M, Tsujii S, Kuzuya H, Nakao K.

Intern Med. 1998 Mar;37(3):265-72.

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