Cargando…

Mitochondrial m.1584A 12S m(6)(2)A rRNA methylation in families with m.1555A>G associated hearing loss

The mitochondrial DNA mutation m.1555A>G predisposes to hearing loss following aminoglycoside antibiotic exposure in an idiosyncratic dose-independent manner. However, it may also cause maternally inherited hearing loss in the absence of aminoglycoside exposure or any other clinical features (non...

Descripción completa

Detalles Bibliográficos
Autores principales:	O'Sullivan, Mary, Rutland, Paul, Lucas, Deirdre, Ashton, Emma, Hendricks, Sebastian, Rahman, Shamima, Bitner-Glindzicz, Maria
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2015
Materias:	Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4986548/ https://www.ncbi.nlm.nih.gov/pubmed/25305075 http://dx.doi.org/10.1093/hmg/ddu518

Ejemplares similares

Hearing in 44–45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study
por: Rahman, Shamima, et al.
Publicado: (2012)

Leigh Syndrome in a Pedigree Harboring the m.1555A>G Mutation in the Mitochondrial 12S rRNA
por: Habbane, Mouna, et al.
Publicado: (2020)

Frequency of mitochondrial m.1555A > G mutation in Syrian patients with non-syndromic hearing impairment
por: Kaheel, Hazem, et al.
Publicado: (2018)

Variant m.1555A>G in MT-RNR1 causes hearing loss and multiorgan mitochondrial disorder
por: Finsterer, Josef
Publicado: (2020)

Analysis of the heteroplasmy level and transmitted features in hearing-loss pedigrees with mitochondrial 12S rRNA A1555G mutation
por: Zhu, Yuhua, et al.
Publicado: (2014)

Audio Profiles in Mitochondrial Deafness m.1555A>G and m.3243A>G Show Distinct Differences
por: Iwanicka-Pronicka, Katarzyna, et al.
Publicado: (2015)

Gentamicin, genetic variation and deafness in preterm children
por: Bitner-Glindzicz, Maria, et al.
Publicado: (2014)

Mitochondrial mutation m.1555A>G as a risk factor for failed newborn hearing screening in a large cohort of preterm infants
por: Göpel, Wolfgang, et al.
Publicado: (2014)

Mitochondrial haplogroup B increases the risk for hearing loss among the Eastern Asian pedigrees carrying 12S rRNA 1555A>G mutation
por: Ying, Zhengbiao, et al.
Publicado: (2015)

Creation of Cybrid Cultures Containing mtDNA Mutations m.12315G>A and m.1555G>A, Associated with Atherosclerosis
por: Sazonova, Margarita A., et al.
Publicado: (2019)

Cancionero de romances (Sevilla, 1584)
por: Sepúlveda, Lorenzo de
Publicado: (1967)

Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study
por: Hall, Amanda, et al.
Publicado: (2012)

Screening of the mitochondrial A1555G mutation in patients with sensorineural hearing loss
por: Maniglia, Luciano Pereira, et al.
Publicado: (2015)

Heterozygous SSBP1 start loss mutation co-segregates with hearing loss and the m.1555A>G mtDNA variant in a large multigenerational family
por: Kullar, Peter J, et al.
Publicado: (2018)

EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus
por: Hoefsloot, Lies H, et al.
Publicado: (2013)

Co-occurrence of m.1555A>G and m.11778G>A mitochondrial DNA mutations in two Indian families with strikingly different clinical penetrance of Leber hereditary optic neuropathy
por: Khan, Nahid Akhtar, et al.
Publicado: (2013)

Sleepers awake: Thomas Moffet's challenge to the College of Physicians of London, 1584.
por: Houliston, V H
Publicado: (1989)

MRPS18CP2 alleles and DEFA3 absence as putative chromosome 8p23.1 modifiers of hearing loss due to mtDNA mutation A1555G in the 12S rRNA gene
por: Ballana, Ester, et al.
Publicado: (2007)

Modeling the effect of rRNA-mRNA interactions and mRNA folding on mRNA translation in chloroplasts
por: Carmel Ezra, Stav, et al.
Publicado: (2022)

Molecular and Clinical Characterization of the Variable Phenotype in Korean Families with Hearing Loss Associated with the Mitochondrial A1555G Mutation
por: Bae, Jae Woong, et al.
Publicado: (2012)

1584. Retrospective Study Comparing the Rate of HIV Blips With Combined Antiretroviral Therapy
por: Makhoul, Jennifer, et al.
Publicado: (2023)

Vesalius Revised. His Annotations to the 1555 Fabrica(1)
por: Nutton, Vivian
Publicado: (2012)

1584. Minocycline Activity Against Stenotrophomonas maltophilia Isolated From Patients in US Hospitals
por: Shortridge, Dee, et al.
Publicado: (2019)

Investigation of the A1555G mutation in mitochondrial DNA (MT-RNR1) in groups of Brazilian individuals with nonsyndromic deafness and normal-hearing
por: Salomão, Karina Bezerra, et al.
Publicado: (2013)

Improvement of a Rapid and Highly Sensitive Method for the Diagnosis of the Mitochondrial m.1555A>G Mutation Based on a Single-Stranded Tag Hybridization Chromatographic Printed-Array Strip
por: Isaka, Yuichi, et al.
Publicado: (2021)

El combate a la piratería en Indias, 1555-1700 /
por: Cruz Barney, Oscar
Publicado: (1999)

1584P Prevalence and risk factors of COVID-19 in cancer patients: A prospective monocentric study
por: Ben Kridis, W., et al.
Publicado: (2021)

The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss
por: Linden Phillips, Luan, et al.
Publicado: (2013)

1555. Evaluation of Local Pathogens and Management of Diabetic Foot Infections
por: Seadler, Jessica L, et al.
Publicado: (2020)

La administración del Colegio de San Pedro y San Pablo (1583-1584)
por: Mijares, Ivonne
Publicado: (1986)

P1584: CELLULAR IMMUNE RESPONSE TO THE BNT162B2 VACCINE IN LYMPHOMA PATIENTS
por: Gurion, R., et al.
Publicado: (2022)

The feasibility of an m-health educational programme (m2Hear) to improve outcomes in first-time hearing aid users
por: Ferguson, Melanie A., et al.
Publicado: (2020)

Response to Comment on Smith et al. Protein Ingestion Induces Muscle Insulin Resistance Independent of Leucine-Mediated mTOR Activation. Diabetes 2015;64:1555–1563
por: Smith, Gordon I., et al.
Publicado: (2015)

The importance of m(6)A topology in chicken embryo mRNA: a precise mapping of m(6)A at the conserved chicken β-actin zipcode
por: Baron, Francis, et al.
Publicado: (2023)

A census of the edition of 1555 of Andreas Vesalius' De Humani Corporis Fabrica
por: Joffe, Stephen N
Publicado: (2009)

The Dropsy of Popes (1555–1978): A Bad Prognostic Sign Foreboding of Death
por: De Santo, Natale Gaspare, et al.
Publicado: (2022)

Global use and outcomes of the hearWHO mHealth hearing test
por: De Sousa, Karina C, et al.
Publicado: (2022)

Structure and regulation of ZCCHC4 in m(6)A-methylation of 28S rRNA
por: Ren, Wendan, et al.
Publicado: (2019)

P1584: PREVELANCE OF ABO DISCPRENACIES AND ITS CLASSIFACTION IN BLOOD DONORS AT REGIONAL BLOOD CENTRE, KARACHI.
por: Waheed, Samra
Publicado: (2023)

Mitochondrial 1555 G>A variant as a potential risk factor for childhood glioblastoma
por: Li, Shaobo, et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_p7es5naemh1vksn1019kn2rn98