Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA(Lys) (m.8340G>A) gene variant.

Pigmentary retinopathy, rod-cone dysfunction and sensorineural deafness associated with a rare mitochondrial tRNA(Lys) (m.8340G>A) gene variant.

<h4>Background/Aim</h4> <p>The rare mitochondrial DNA (mtDNA) variant m.8340G>A has been previously reported in the literature in a single, sporadic case of mitochondrial myopathy. In this report, we aim to investigate the case of a 39-year-old male patient with sensorineur...

書目詳細資料
Main Authors:	Gill, JS, Hardy, SA, Blakely, EL, Hopton, S, Nemeth, AH, Fratter, C, Poulton, J, Taylor, RW, Downes, SM
格式:	Journal article
語言:	English
出版:	BMJ Publishing Group 2017

相似書籍

Waardinburg syndrome — inherited deafness with pigmentary involvement
由: M.F. Macrae
出版: (1979-09-01)

Etiology of Sensorineural Deafness
由: J Gordon Millichap
出版: (1996-02-01)

Sensorineural Deafness and MMR Immunization
由: J Gordon Millichap
出版: (1993-08-01)

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism
由: Laura Cristina Gironi, et al.
出版: (2019-07-01)

Clinical features of the pathogenic m.5540G>A mitochondrial transfer RNA tryptophan gene mutation
由: Ng, Y, et al.
出版: (2016)

Characterisation of pitch: an early onset model of sensorineural deafness
由: Carrott, L
出版: (2014)

Heart rate variability in children with congenital sensorineural deafness
由: Tayfun Uçar, et al.
出版: (2010-04-01)

Sensorineural deafness in purebred white Devon Rex cats
由: Annemarie Kortas, et al.
出版: (2024-03-01)

Does acute sensorineural deafness befall to urgent conditions?
由: Čvorović Ljiljana, et al.
出版: (2009-01-01)

The emerging role of complex modifications of tRNA Lys UUU in signaling pathways
由: Patrick C. Thiaville, et al.
出版: (2015-01-01)

Hypoparathyroidism, sensorineural deafness, and renal dysgenesis syndrome with a mutation
由: Yong Suk Shim, et al.
出版: (2015-03-01)

THIAMINE–RESPONSIVE MEGALOBLASTIC ANEMIA, SENSORINEURAL DEAFNESS AND DIABETES MELLITUS
由: M. Kadivar R. Moradian, et al.
出版: (2006-11-01)

THIAMINE–RESPONSIVE MEGALOBLASTIC ANEMIA, SENSORINEURAL DEAFNESS AND DIABETES MELLITUS
由: T. Zaman, et al.
出版: (2006-12-01)

An efficient strategy for establishing a model of sensorineural deafness in rats
由: Long Ma, et al.
出版: (2015-01-01)

Reverse transcription of plasma-derived HIV-1 RNA generates multiple artifacts through tRNA(Lys-3)-priming
由: Jarryt Hardy, et al.
出版: (2024-04-01)

Pigmentary mosaicism
由: Ratnakar Shukla, et al.
出版: (2023-01-01)

Pigmentary glaucoma
由: Rosita Aguirre Burgos, et al.
出版: (2007-08-01)

Pigmentary disorders
由: Terence J Ryan
出版: (2014-01-01)

Role of p63 and the Notch pathway in cochlea development and sensorineural deafness.
由: Terrinoni, A, et al.
出版: (2013)

Atypical presentation of subclavian steal syndrome with left sided sensorineural deafness
由: Santiago Rolon, MD, et al.
出版: (2023-12-01)

Tuberculous Meningitis Presented with Bilateral Sensorineural Hearing Loss: Acute Deafness
由: Kürşad Çetin Akpınar, et al.
出版: (2011-12-01)

Tuberculous Meningitis Presented with Bilateral Sensorineural Hearing Loss: Acute Deafness
由: Kürşad Çetin Akpınar, et al.
出版: (2011-12-01)

Congenital hereditary endothelial dystrophy with progressive sensorineural deafness (Harboyan syndrome)
由: Abramowicz Marc, et al.
出版: (2008-10-01)

Decline in prevalence of congenital sensorineural deafness in Dalmatian dogs in the United Kingdom
由: Tom Lewis, et al.
出版: (2020-07-01)

Reversible splenial lesion syndrome in sisters with sensorineural deafness as the first manifestation
由: Jinbo Yang, et al.
出版: (2021-05-01)

Congenital sensorineural deafness in dalmatian dogs associated with quantitative trait loci.
由: Susanne Kluth, et al.
出版: (2013-01-01)

Modification of tRNA(Lys) UUU by elongator is essential for efficient translation of stress mRNAs.
由: Jorge Fernández-Vázquez, et al.
出版: (2013-01-01)

Metabolic Pigmentary Retinopathies
由: J Gordon Millichap
出版: (1992-02-01)

Pigmentary mosaicism: An update
由: Thapa Rajoo
出版: (2008-01-01)

Pigmentary Changes In Pregnancy
由: Neogi Bidisa Guha, et al.
出版: (1995-01-01)

Characteristics of hearing loss in HDR (hypoparathyroidism, sensorineural deafness, renal dysplasia) syndrome.
由: Looij, v, et al.
出版: (2006)

Brief report: autosomal dominant familial hypoparathyroidism, sensorineural deafness, and renal dysplasia.
由: Bilous, R, et al.
出版: (1992)

COQ6 mutation in patients with nephrotic syndrome, sensorineural deafness, and optic atrophy
由: R. Justine Perrin, et al.
出版: (2020-07-01)

A rare concomitance of two blaschkoid pigmentary disorders: A juggle of pigmentary mosaicism
由: Manju Daroach, et al.
出版: (2019-01-01)

Research Advances on Deafness Genes Associated with Mitochondrial tRNA-37 Modifications
由: Panpan Bian, et al.
出版: (2023-09-01)

tRNA<sup>Lys</sup>-Derived Fragment Alleviates Cisplatin-Induced Apoptosis in Prostate Cancer Cells
由: Changwon Yang, et al.
出版: (2021-01-01)

Loss of anticodon wobble uridine modifications affects tRNA(Lys) function and protein levels in Saccharomyces cerevisiae.
由: Roland Klassen, et al.
出版: (2015-01-01)

Permanent Sensorineural Deafness in a Patient with Chronic Myelogenous Leukemia Secondary to Intracranial Hemorrhage
由: Sakshi Kapur, et al.
出版: (2013-01-01)

The Effect of Type II DM on the Incidence of Sensorineural Deafness at Bali Royal General Hospital
由: Agus Santosa, et al.
出版: (2022-05-01)

Clinical characteristics and prognosis of sudden sensorineural hearing loss in single-sided deafness patients
由: Yupeng Liu, et al.
出版: (2023-09-01)