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Results: 26
Integration of Tmc1/2 into the mechanotransduction complex in zebrafish hair cells is regulated by Transmembrane O-methyltransferase (Tomt).
Timothy Erickson, Clive P Morgan, Jennifer Olt, Katherine Hardy, Elisabeth Busch-Nentwich, Reo Maeda, Rachel Clemens, Jocelyn F Krey, Alex Nechiporuk, Peter G Barr-Gillespie, Walter Marcotti, Teresa Nicolson
Jun 20, 2018
Transmembrane O-methyltransferase (TOMT/LRTOMT) is responsible for non-syndromic deafness DFNB63. However, the specific defects that lead to hearing loss have not been described. Using a zebrafish model of DFNB63, we show that...
Therapeutic potential of the mitochondria-targeted antioxidant MitoQ in mitochondrial-ROS induced sensorineural hearing loss caused by Idh2 deficiency.
Ye-Ri Kim, Jeong-In Baek, Sung Hwan Kim, Min-A Kim, Byeonghyeon Lee, Nari Ryu, Kyung-Hee Kim, Deok-Gyun Choi, Hye-Min Kim, Michael P Murphy, Greg Macpherson, Yeon-Sik Choo, Jinwoong Bok, Kyu-Yup Lee, Jeen-Woo Park, Un-Kyung Kim
Jan 02, 2019
Mitochondrial NADP+-dependent isocitrate dehydrogenase 2 (IDH2) is a major NADPH-producing enzyme which is essential for maintaining the mitochondrial redox balance in cells. We sought to determine whether IDH2 deficiency...
antioxidant Hearing Loss Idh2 MitoQ NADP(+) ROS Animals Apoptosis Biomarkers Disease Models Animal Fluorescent Antibody Technique Hair Cells Auditory Hearing Loss Sensorineural Homozygote Immunohistochemistry Isocitrate Dehydrogenase Mice Mice Knockout Mitochondria Organophosphorus Compounds Oxidation-Reduction Oxidative Stress Reactive Oxygen Species Spiral Ganglion Ubiquinone
Dominant Stickler Syndrome.
Zack Soh, Allan J Richards, Annie McNinch, Philip Alexander, Howard Martin, Martin P Snead
Jul 24, 2022
The Stickler syndromes are a group of genetic connective tissue disorders associated with an increased risk of rhegmatogenous retinal detachment, deafness, cleft palate, and premature arthritis. This review article focuses on...
Malta (MYH9 Associated Elastin Aggregation) Syndrome
Eleanor Fewings, Mirjana Ziemer, Konstanze Hörtnagel, Kerstin Reicherter, Alexey Larionov, James Redman, Mae A Goldgraben, Alexander Pepler, Tim Hearn, Helen Firth, Tom Ha, Jörg Schaller, David J Adams, Ed Rytina, Maurice van Steensel, Marc Tischkowitz
Mar 27, 2019
To the Editor.
Sweat duct proliferations and related cutaneous tumours pose a challenge for diagnosis and treatment due to the presence of multiple overlapping histopathological features (Schaller et al. 2010). In 1961 Nicolau...
Auditory dysfunction in type 2 Stickler Syndrome.
Philip Alexander, Philip Gomersall, Jack Stancel-Lewis, Gregory Scott Fincham, Arabella Poulson, Allan Richards, Annie McNinch, David M Baguley, Martin Snead
Sep 22, 2021
PURPOSE: To present the extent and site of lesion of auditory dysfunction in a large cohort of individuals with type 2 Stickler Syndrome. Type 2 Stickler Syndrome results from a mutation in the gene coding for α-1 type XI...
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
A Reghan Foley, Manoj P Menezes, Amelie Pandraud, Michael A Gonzalez, Ahmad Al-Odaib, Alexander J Abrams, Kumiko Sugano, Atsushi Yonezawa, Adnan Y Manzur, Joshua Burns, Imelda Hughes, B Gary McCullagh, Heinz Jungbluth, Ming J Lim, Jean-Pierre Lin, Andre Megarbane, J Andoni Urtizberea, Ayaz H Shah, Jayne Antony, Richard Webster, Alexander Broomfield, Joanne Ng, Ann A Mathew, James J O'Byrne, Eva Forman, Mariacristina Scoto, Manish Prasad, Katherine O'Brien, Simon Olpin, Marcus Oppenheim, Iain Hargreaves, John M Land, Min X Wang, Kevin Carpenter, Rita Horvath, Volker Straub, Monkol Lek, Wendy Gold, Michael O Farrell, Sebastian Brandner, Rahul Phadke, Kazuo Matsubara, Michael L McGarvey, Steven S Scherer, Peter S Baxter, Mary D King, Peter Clayton, Shamima Rahman, Mary M Reilly, Robert A Ouvrier, John Christodoulou, Stephan Züchner, Francesco Muntoni, Henry Houlden
Mar 07, 2019
Childhood onset motor neuron diseases or neuronopathies are a clinically heterogeneous group of disorders. A particularly severe subgroup first described in 1894, and subsequently called Brown-Vialetto-Van Laere syndrome, is...
Brown-Vialetto-Van Laere syndrome RFVT2 SLC52A2 childhood neuronopathy riboflavin therapy Adolescent Brain Bulbar Palsy Progressive Carnitine Child Child Preschool Exome Female Genotype Hearing Loss Sensorineural Humans Image Processing Computer-Assisted Magnetic Resonance Imaging Male Microarray Analysis motor neuron disease Mutation Neurologic Examination Pedigree RNA Receptors G-Protein-Coupled Riboflavin Sequence Analysis DNA Sural Nerve Vitamins Young Adult
Life-threatening metabolic alkalosis in Pendred syndrome.
INTRODUCTION: Pendred syndrome, a combination of sensorineural deafness, impaired organification of iodide in the thyroid and goitre, results from biallelic defects in pendrin (encoded by SLC26A4), which transports chloride and...
Both mitochondrial DNA and mitonuclear gene mutations cause hearing loss through cochlear dysfunction.
Language Development and Impairment in Children With Mild to Moderate Sensorineural Hearing Loss.
PURPOSE: The goal of this study was to examine language development and factors related to language impairments in children with mild to moderate sensorineural hearing loss (MMHL). METHOD: Ninety children, aged 8-16 years (46...
Impaired frequency selectivity and sensitivity to temporal fine structure, but not envelope cues, in children with mild-to-moderate sensorineural hearing loss.
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
Andreea Manole, Zane Jaunmuktane, Iain Hargreaves, Marthe HR Ludtmann, Vincenzo Salpietro, Oscar D Bello, Simon Pope, Amelie Pandraud, Alejandro Horga, Renata S Scalco, Abi Li, Balasubramaniem Ashokkumar, Charles M Lourenço, Simon Heales, Rita Horvath, Patrick F Chinnery, Camilo Toro, Andrew B Singleton, Thomas S Jacques, Andrey Y Abramov, Francesco Muntoni, Michael G Hanna, Mary M Reilly, Tamas Revesz, Dimitri M Kullmann, James EC Jepson, Henry Houlden
Mar 07, 2019
Brown-Vialetto-Van Laere syndrome represents a phenotypic spectrum of motor, sensory, and cranial nerve neuropathy, often with ataxia, optic atrophy and respiratory problems leading to ventilator-dependence. Loss-of-function...
Brown-Vialetto-Van Laere syndrome SLC52A2 SLC52A3 Riboflavin Adolescent Animals Atrophy Brain Bulbar Palsy Progressive Child Child Preschool Citrate (si)-Synthase Drosophila melanogaster Electron Transport Complex I Electron Transport Complex II Electron Transport Complex III Female FIBROBLASTS Gene Knockdown Techniques Hearing Loss Sensorineural Humans In Vitro Techniques Infant Locomotion longevity Male Membrane Transport Proteins Microscopy Electron Neural Pathways Receptors G-Protein-Coupled Riboflavin Spinal Cord Spinocerebellar Tracts Spinothalamic Tracts Young Adult
The novel homozygous KCNJ10 c.986T>C (p.(Leu329Pro)) variant is pathogenic for the SeSAME/EAST homologue in Malinois dogs.
Mario Van Poucke, Kimberley Stee, Sofie FM Bhatti, An Vanhaesebrouck, Leslie Bosseler, Luc J Peelman, Luc Van Ham
Aug 08, 2019
SeSAME/EAST syndrome is a multisystemic disorder in humans, characterised by seizures, sensorineural deafness, ataxia, developmental delay and electrolyte imbalance. It is exclusively caused by homozygous or compound...
Bone morphogenetic protein 4 (BMP4) loss-of-function variant associated with autosomal dominant Stickler syndrome and renal dysplasia.
Thomas RW Nixon, Allan Richards, Laura K Towns, Gavin Fuller, Stephen Abbs, Philip Alexander, Annie McNinch, Richard N Sandford, Martin P Snead
Dec 03, 2020
Stickler syndrome is a genetic disorder that can lead to joint problems, hearing difficulties and retinal detachment. Genes encoding collagen types II, IX and XI are usually responsible, but some families have no causal variant...
Autosomal Recessive Stickler Syndrome.
Stickler syndrome (SS) is a genetic disorder with manifestations in the eye, ear, joints, face and palate. Usually inherited in a dominant fashion due to heterozygous pathogenic variants in the collagen genes COL2A1 and COL11A1...
Prevention of Blindness in Stickler Syndrome.
Stickler syndromes are inherited conditions caused by abnormalities of structural proteins in the eye, inner ear and cartilage. The risk of retinal detachment, particularly due to the development of giant retinal tears, is high....
Stickler Syndrome
Julia Zimmermann, Daniel J Stubbs, Allan J Richards, Philip Alexander, Annie M McNinch, Basil Matta, Martin P Snead
Jan 13, 2020
Adolescent Adult Aged Aged 80 and over Airway Management Anesthesia General Arthritis Child Child Preschool Cleft Palate Cohort Studies Connective Tissue Diseases Female Hearing Loss Sensorineural Humans Infant Infant Newborn Intraoperative Complications Male Middle Aged Pierre Robin Syndrome Retinal Detachment Retrospective Studies Young Adult
Transient Noise Reduction Using a Deep Recurrent Neural Network
A deep recurrent neural network (RNN) for reducing transient sounds was developed and its effects on subjective speech intelligibility and listening comfort were investigated. The RNN was trained using sentences spoken with...
Auditory processing deficits are sometimes necessary and sometimes sufficient for language difficulties in children
There is a general consensus that many children and adults with dyslexia and/or specific language impairment display deficits in auditory processing. However, how these deficits are related to developmental disorders of language...
Auditory Processing Developmental Language Disorder (DLD) Dyslexia Mild to moderate hearing loss sensorineural hearing loss Specific Language Impairment (SLI) Adolescent Child Female Hearing Loss Sensorineural Humans Language Disorders Male reading Severity of Illness Index speech Speech Perception Vocabulary
Inherited and de novo biallelic pathogenic variants in COL11A1 result in type 2 Stickler syndrome with severe hearing loss.
Thomas Nixon, Allan J Richards, Adrian Lomas, Stephen Abbs, Pradeep Vasudevan, Annie McNinch, Philip Alexander, Martin P Snead
Sep 22, 2021
BACKGROUND: Type 2 Stickler syndrome is usually a dominant disorder resulting from pathogenic variants in COL11A1 encoding the alpha 1 chain of type XI collagen. Typical molecular changes result in either substitution of an...
Quality ratings of frequency-compressed speech by participants with extensive high-frequency dead regions in the cochlea.
Frequency compression dead regions Hearing Aids sound quality Acoustic Stimulation Aged Audiometry Pure-Tone Auditory Threshold Cochlea Correction of Hearing Impairment Female Hearing Hearing Aids Hearing Loss Sensorineural Humans Male Middle Aged Persons With Hearing Impairments Signal Processing Computer-Assisted Speech Intelligibility Speech Perception Treatment Outcome
Relationship between sensitivity to temporal fine structure and spoken language abilities in children with mild-to-moderate sensorineural hearing loss.
Children with sensorineural hearing loss show considerable variability in spoken language outcomes. The present study tested whether specific deficits in supra-threshold auditory perception might contribute to this variability....
Narrow-band ripple glide direction discrimination and its relationship to frequency selectivity estimated using psychophysical tuning curves.
The highest spectral ripple density at which the discrimination of ripple glide direction was possible (STRtdir task) was assessed for one-octave wide (narrowband) stimuli with center frequencies of 500, 1000, 2000, and 4000 Hz...
Functional brain alterations following mild-to-moderate sensorineural hearing loss in children.
Auditory deprivation in the form of deafness during development leads to lasting changes in central auditory system function. However, less is known about the effects of mild-to-moderate sensorineural hearing loss (MMHL) during...
Stickler syndrome - lessons from a national cohort.
MP Snead, AJ Richards, AM McNinch, P Alexander, H Martin, TRW Nixon, P Bale, N Shenker, S Brown, AM Blackwell, AV Poulson
Sep 23, 2022
In 2011 NHS England commissioned a new national specialist MDT service for patients and families affected by Stickler syndrome. The Stickler syndromes form part of the spectrum of inherited vitreoretinopathies and are the most...
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