Mengesha E - Search Results

1

Phenotype of non-syndromic deafness associated with the mitochondrial A1555G mutation is modulated by mitochondrial RNA modifying enzymes MTO1 and GTPBP3.

Bykhovskaya Y, Mengesha E, Wang D, Yang H, Estivill X, Shohat M, Fischel-Ghodsian N. Bykhovskaya Y, et al. Among authors: mengesha e. Mol Genet Metab. 2004 Nov;83(3):199-206. doi: 10.1016/j.ymgme.2004.07.009. Mol Genet Metab. 2004. PMID: 15542390

2

Gene responsible for mitochondrial myopathy and sideroblastic anemia (MSA) maps to chromosome 12q24.33.

Casas K, Bykhovskaya Y, Mengesha E, Wang D, Yang H, Taylor K, Inbal A, Fischel-Ghodsian N. Casas K, et al. Among authors: mengesha e. Am J Med Genet A. 2004 May 15;127A(1):44-49. doi: 10.1002/ajmg.a.20652. Am J Med Genet A. 2004. PMID: 15103716

3

Missense mutation in pseudouridine synthase 1 (PUS1) causes mitochondrial myopathy and sideroblastic anemia (MLASA).

Bykhovskaya Y, Casas K, Mengesha E, Inbal A, Fischel-Ghodsian N. Bykhovskaya Y, et al. Among authors: mengesha e. Am J Hum Genet. 2004 Jun;74(6):1303-8. doi: 10.1086/421530. Epub 2004 Apr 22. Am J Hum Genet. 2004. PMID: 15108122 Free PMC article.

4

Human mitochondrial transcription factor B1 as a modifier gene for hearing loss associated with the mitochondrial A1555G mutation.

Bykhovskaya Y, Mengesha E, Wang D, Yang H, Estivill X, Shohat M, Fischel-Ghodsian N. Bykhovskaya Y, et al. Among authors: mengesha e. Mol Genet Metab. 2004 May;82(1):27-32. doi: 10.1016/j.ymgme.2004.01.020. Mol Genet Metab. 2004. PMID: 15110318

5

Mitochondrial myopathy and sideroblastic anemia (MLASA): missense mutation in the pseudouridine synthase 1 (PUS1) gene is associated with the loss of tRNA pseudouridylation.

Patton JR, Bykhovskaya Y, Mengesha E, Bertolotto C, Fischel-Ghodsian N. Patton JR, et al. Among authors: mengesha e. J Biol Chem. 2005 May 20;280(20):19823-8. doi: 10.1074/jbc.M500216200. Epub 2005 Mar 16. J Biol Chem. 2005. PMID: 15772074 Free article.

6

Human TRMU encoding the mitochondrial 5-methylaminomethyl-2-thiouridylate-methyltransferase is a putative nuclear modifier gene for the phenotypic expression of the deafness-associated 12S rRNA mutations.

Yan Q, Bykhovskaya Y, Li R, Mengesha E, Shohat M, Estivill X, Fischel-Ghodsian N, Guan MX. Yan Q, et al. Among authors: mengesha e. Biochem Biophys Res Commun. 2006 Apr 21;342(4):1130-6. doi: 10.1016/j.bbrc.2006.02.078. Epub 2006 Feb 23. Biochem Biophys Res Commun. 2006. PMID: 16513084

7

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. Guan MX, et al. Among authors: mengesha e. Am J Hum Genet. 2006 Aug;79(2):291-302. doi: 10.1086/506389. Epub 2006 Jun 22. Am J Hum Genet. 2006. PMID: 16826519 Free PMC article.

8

IL-23 receptor (IL-23R) gene protects against pediatric Crohn's disease.

Dubinsky MC, Wang D, Picornell Y, Wrobel I, Katzir L, Quiros A, Dutridge D, Wahbeh G, Silber G, Bahar R, Mengesha E, Targan SR, Taylor KD, Rotter JI; Western Regional Research Alliance for Pediatric IBD. Dubinsky MC, et al. Among authors: mengesha e. Inflamm Bowel Dis. 2007 May;13(5):511-5. doi: 10.1002/ibd.20126. Inflamm Bowel Dis. 2007. PMID: 17309073 Free PMC article.

9

Pleiotropic effects and compensation mechanisms determine tissue specificity in mitochondrial myopathy and sideroblastic anemia (MLASA).

Bykhovskaya Y, Mengesha E, Fischel-Ghodsian N. Bykhovskaya Y, et al. Among authors: mengesha e. Mol Genet Metab. 2007 Jun;91(2):148-56. doi: 10.1016/j.ymgme.2007.02.006. Epub 2007 Mar 19. Mol Genet Metab. 2007. PMID: 17374500 Free PMC article.

10

Phenotypic expression of maternally inherited deafness is affected by RNA modification and cytoplasmic ribosomal proteins.

Bykhovskaya Y, Mengesha E, Fischel-Ghodsian N. Bykhovskaya Y, et al. Among authors: mengesha e. Mol Genet Metab. 2009 Aug;97(4):297-304. doi: 10.1016/j.ymgme.2009.05.003. Epub 2009 May 13. Mol Genet Metab. 2009. PMID: 19482502 Free PMC article.

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