Literature DB >> 10739773

Mutations in the mitochondrial tRNA Ser(UCN) and in the GJB2 (connexin 26) gene are not modifiers of the age at onset or severity of hearing loss in Spanish patients with the 12S rRNA A1555G mutation.

N López-Bigas, R Rabionet, E Martinez, O Bravo, J Girons, A Borragan, M Pellicer, M L Arbonés, X Estivill.   

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Year:  2000        PMID： 10739773      PMCID： PMC1288216          DOI： 10.1086/302870

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  14 in total

1.  Heterogenous point mutations in the mitochondrial tRNA Ser(UCN) precursor coexisting with the A1555G mutation in deaf students from Mongolia.

Authors:  A Pandya; X J Xia; R Erdenetungalag; M Amendola; B Landa; J Radnaabazar; B Dangaasuren; G Van Tuyle; W E Nance
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

2.  Mitochondrial ribosomal RNA mutation associated with both antibiotic-induced and non-syndromic deafness.

Authors:  T R Prezant; J V Agapian; M C Bohlman; X Bu; S Oztas; W Q Qiu; K S Arnos; G A Cortopassi; L Jaber; J I Rotter
Journal:  Nat Genet       Date:  1993-07       Impact factor: 38.330

3.  Biochemical evidence for nuclear gene involvement in phenotype of non-syndromic deafness associated with mitochondrial 12S rRNA mutation.

Authors:  M X Guan; N Fischel-Ghodsian; G Attardi
Journal:  Hum Mol Genet       Date:  1996-07       Impact factor: 6.150

4.  High carrier frequency of the 35delG deafness mutation in European populations. Genetic Analysis Consortium of GJB2 35delG.

Authors:  P Gasparini; R Rabionet; G Barbujani; S Melçhionda; M Petersen; K Brøndum-Nielsen; A Metspalu; E Oitmaa; M Pisano; P Fortina; L Zelante; X Estivill
Journal:  Eur J Hum Genet       Date:  2000-01       Impact factor: 4.246

5.  Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations.

Authors:  M D Brown; A Torroni; C L Reckord; D C Wallace
Journal:  Hum Mutat       Date:  1995       Impact factor: 4.878

6.  A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness.

Authors:  F M Reid; G A Vernham; H T Jacobs
Journal:  Hum Mutat       Date:  1994       Impact factor: 4.878

7.  Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides.

Authors:  X Estivill; N Govea; E Barceló; C Badenas; E Romero; L Moral; R Scozzri; L D'Urbano; M Zeviani; A Torroni
Journal:  Am J Hum Genet       Date:  1998-01       Impact factor: 11.025

8.  Connexin-26 mutations in sporadic and inherited sensorineural deafness.

Authors:  X Estivill; P Fortina; S Surrey; R Rabionet; S Melchionda; L D'Agruma; E Mansfield; E Rappaport; N Govea; M Milà; L Zelante; P Gasparini
Journal:  Lancet       Date:  1998-02-07       Impact factor: 79.321

9.  Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.

Authors:  L Zelante; P Gasparini; X Estivill; S Melchionda; L D'Agruma; N Govea; M Milá; M D Monica; J Lutfi; M Shohat; E Mansfield; K Delgrosso; E Rappaport; S Surrey; P Fortina
Journal:  Hum Mol Genet       Date:  1997-09       Impact factor: 6.150

10.  The A1555G mutation in the 12S rRNA gene of human mtDNA: recurrent origins and founder events in families affected by sensorineural deafness.

Authors:  A Torroni; F Cruciani; C Rengo; D Sellitto; N López-Bigas; R Rabionet; N Govea; A López De Munain; M Sarduy; L Romero; M Villamar; I del Castillo; F Moreno; X Estivill; R Scozzari
Journal:  Am J Hum Genet       Date:  1999-11       Impact factor: 11.025
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