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Usher syndrome

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https://www.readbyqxmd.com/read/28934368/a-single-danio-rerio-hars-gene-encodes-both-cytoplasmic-and-mitochondrial-histidyl-trna-synthetases
#1
Ashley L Waldron, Sara Helms Cahan, Christopher S Franklyn, Alicia M Ebert
Histidyl tRNA Synthetase (HARS) is a member of the aminoacyl tRNA synthetase (ARS) family of enzymes. This family of 20 enzymes is responsible for attaching specific amino acids to their cognate tRNA molecules, a critical step in protein synthesis. However, recent work highlighting a growing number of associations between ARS genes and diverse human diseases raises the possibility of new and unexpected functions in this ancient enzyme family. For example, mutations in HARS have been linked to two different neurological disorders, Usher Syndrome Type IIIB and Charcot Marie Tooth peripheral neuropathy...
2017: PloS One
https://www.readbyqxmd.com/read/28918053/ush2a-gene-editing-using-the-crispr-system
#2
Carla Fuster-García, Gema García-García, Elisa González-Romero, Teresa Jaijo, María D Sequedo, Carmen Ayuso, Rafael P Vázquez-Manrique, José M Millán, Elena Aller
Usher syndrome (USH) is a rare autosomal recessive disease and the most common inherited form of combined visual and hearing impairment. Up to 13 genes are associated with this disorder, with USH2A being the most prevalent, due partially to the recurrence rate of the c.2299delG mutation. Excluding hearing aids or cochlear implants for hearing impairment, there are no medical solutions available to treat USH patients. The repair of specific mutations by gene editing is, therefore, an interesting strategy that can be explored using the CRISPR/Cas9 system...
September 15, 2017: Molecular Therapy. Nucleic Acids
https://www.readbyqxmd.com/read/28894305/electroretinography-reveals-difference-in-cone-function-between-syndromic-and-nonsyndromic-ush2a-patients
#3
Jesse D Sengillo, Thiago Cabral, Kaspar Schuerch, Jimmy Duong, Winston Lee, Katherine Boudreault, Yu Xu, Sally Justus, Janet R Sparrow, Vinit B Mahajan, Stephen H Tsang
Usher syndrome is an inherited and irreversible disease that manifests as retinitis pigmentosa (RP) and bilateral neurosensory hearing loss. Mutations in Usherin 2A (USH2A) are not only a frequent cause of Usher syndrome, but also nonsyndromic RP. Although gene- and cell-based therapies are on the horizon for RP and Usher syndrome, studies characterizing natural disease are lacking. In this retrospective analysis, retinal function of USH2A patients was quantified with electroretinography. Both groups had markedly reduced rod and cone responses, but nonsyndromic USH2A patients had 30 Hz-flicker electroretinogram amplitudes that were significantly higher than syndromic patients, suggesting superior residual cone function...
September 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28840378/panel-sequencing-of-264-candidate-susceptibility-genes-and-segregation-analysis-in-a-cohort-of-non-brca1-non-brca2-breast-cancer-families
#4
Jun Li, Hongyan Li, Igor Makunin, Bryony A Thompson, Kayoko Tao, Erin L Young, Jacqueline Lopez, Nicola J Camp, Sean V Tavtigian, Esther M John, Irene L Andrulis, Kum Kum Khanna, David Goldgar, Georgia Chenevix-Trench
PURPOSE: The main aim of this study was to screen epigenetic modifier genes and known breast cancer driver genes for germline mutations in non-BRCA1/2 (BRCAx) breast cancer families in order to identify novel susceptibility genes of moderate-high penetrance. METHODS: We screened 264 candidate susceptibility genes in 656 index cases from non-BRCA1/2 families. Potentially pathogenic candidate mutations were then genotyped in all available family members for the assessment of co-segregation of the variant with disease in the family in order to estimate the breast cancer risks associated with these mutations...
August 24, 2017: Breast Cancer Research and Treatment
https://www.readbyqxmd.com/read/28835534/local-gene-therapy-durably-restores-vestibular-function-in-a-mouse-model-of-usher-syndrome-type-1g
#5
Alice Emptoz, Vincent Michel, Andrea Lelli, Omar Akil, Jacques Boutet de Monvel, Ghizlene Lahlou, Anaïs Meyer, Typhaine Dupont, Sylvie Nouaille, Elody Ey, Filipa Franca de Barros, Mathieu Beraneck, Didier Dulon, Jean-Pierre Hardelin, Lawrence Lustig, Paul Avan, Christine Petit, Saaid Safieddine
Our understanding of the mechanisms underlying inherited forms of inner ear deficits has considerably improved during the past 20 y, but we are still far from curative treatments. We investigated gene replacement as a strategy for restoring inner ear functions in a mouse model of Usher syndrome type 1G, characterized by congenital profound deafness and balance disorders. These mice lack the scaffold protein sans, which is involved both in the morphogenesis of the stereociliary bundle, the sensory antenna of inner ear hair cells, and in the mechanoelectrical transduction process...
September 5, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28827497/artefactually-dampened-flash-stimulus-visual-evoked-responses-in-a-silicone-oil-filled-eye
#6
Ramesh Venkatesh, Shailja Tibrewal, Prachi Gurav, Sankhadeep Roy
PURPOSE: To report a case of falsely dampened visual evoked responses in a patient of Usher syndrome after retinal detachment surgery secondary to probable intraocular silicone oil. METHODS: Retrospective observational case report. CASE DESCRIPTION: A 16-year-old boy with Usher syndrome developed rhegmatogenous retinal detachment in the left eye. He underwent a successful retinal detachment surgery with silicone oil tamponade. On his postoperative follow-up visit, poor vision was noted by our optometrist...
August 18, 2017: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/28731162/a-homozygous-myo7a-mutation-associated-to-usher-syndrome-and-unilateral-auditory-neuropathy-spectrum-disorder
#7
Hong Xia, Pengzhi Hu, Lamei Yuan, Wei Xiong, Hongbo Xu, Junhui Yi, Zhijian Yang, Xiong Deng, Yi Guo, Hao Deng
Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss, progressive visual loss and night blindness due to retinitis pigmentosa (RP), with or without vestibular dysfunction. The purpose of this study was to detect the causative gene in a consanguineous Chinese family with USH. A c.3696_3706del (p.R1232Sfs*72) variant in the myosin VIIa gene (MYO7A) was identified in the homozygous state by exome sequencing. The co‑segregation of the MYO7A c.3696_3706del variant with the phenotype of deafness and progressive visual loss in the USH family was confirmed by Sanger sequencing...
October 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28721681/genetic-characterization-and-disease-mechanism-of-retinitis-pigmentosa-current-scenario
#8
REVIEW
Muhammad Umar Ali, Muhammad Saif Ur Rahman, Jiang Cao, Ping Xi Yuan
Retinitis pigmentosa is a group of genetically transmitted disorders affecting 1 in 3000-8000 individual people worldwide ultimately affecting the quality of life. Retinitis pigmentosa is characterized as a heterogeneous genetic disorder which leads by progressive devolution of the retina leading to a progressive visual loss. It can occur in syndromic (with Usher syndrome and Bardet-Biedl syndrome) as well as non-syndromic nature. The mode of inheritance can be X-linked, autosomal dominant or autosomal recessive manner...
August 2017: 3 Biotech
https://www.readbyqxmd.com/read/28704163/prevalence-of-macular-abnormalities-assessed-by-optical-coherence-tomography-in-patients-with-usher-syndrome
#9
Francesco Testa, Paolo Melillo, Settimio Rossi, Vincenzo Marcelli, Antonella de Benedictis, Raffaella Colucci, Beatrice Gallo, Raffaella Brunetti-Pierri, Simone Donati, Claudio Azzolini, Elio Marciano, Francesca Simonelli
BACKGROUND: To investigate the prevalence of macular abnormalities in patients affected by Usher syndrome (USH), by comparing the clinical findings between two types (i.e., USH1 and USH2). MATERIAL AND METHODS: A retrospective study was performed by reviewing optical coherence tomography (OCT) in 134 USH patients to determine the presence of macular abnormalities, including cystoid macular edema (CME), epiretinal membrane (ERM), vitreo-macular traction syndrome (VMT), and macular hole (MH)...
July 13, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28688563/a-novel-mutation-in-the-myo7a-gene-is-associated-with-usher-syndrome-type-1-in-a-chinese-family
#10
Xiaoguang He, Qi Peng, Siping Li, Pengyuan Zhu, Chunqiu Wu, Chunbao Rao, Jingqi Lin, Xiaomei Lu
OBJECTIVES: We aimed to investigate the genetic causes of hearing loss in a Chinese proband with autosomal recessive congenital deafness. METHODS: The targeted capture of 159 known deafness genes and next-generation sequencing were performed to study the genetic causes of hearing loss in the Chinese family. Sanger sequencing was employed to verify the variant mutations in members of this family. RESULTS: The proband harbored two mutations in the MYO7A gene in the form of compound heterozygosity...
August 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28687876/chromosome-21-encoded-micrornas-mrnas-impact-on-down-s-syndrome-and-trisomy-21-linked-disease
#11
P N Alexandrov, M E Percy, Walter J Lukiw
Down's syndrome (DS; also known as trisomy 21; T21) is caused by a triplication of all or part of human chromosome 21 (chr21). DS is the most common genetic cause of intellectual disability attributable to a naturally-occurring imbalance in gene dosage. DS incurs huge medical, healthcare, and socioeconomic costs, and there are as yet no effective treatments for this incapacitating human neurogenetic disorder. There is a remarkably wide variability in the 'phenotypic spectrum' associated with DS; the progression of symptoms and the age of DS onset fluctuate, and there is further variability in the biophysical nature of the chr21 duplication...
July 7, 2017: Cellular and Molecular Neurobiology
https://www.readbyqxmd.com/read/28678594/visual-outcomes-in-japanese-patients-with-retinitis-pigmentosa-and-usher-syndrome-caused-by-ush2a-mutations
#12
Yasunori Nagase, Kentaro Kurata, Katsuhiro Hosono, Kimiko Suto, Akiko Hikoya, Hiroshi Nakanishi, Kunihiro Mizuta, Hiroyuki Mineta, Shinsei Minoshima, Yoshihiro Hotta
PURPOSE: EYS and USH2A are the most common causative genes for retinitis pigmentosa (RP) in Japan. We determined the clinical outcomes for USH2A-related non-syndromic RP or Usher syndrome type II (USH2). METHODS: Two non-syndromic RP and 11 USH2 patients with previously identified USH2A mutations were included. Their complete history and medical records were collected using standard procedures. Visual fields and acuity were compared with those of patients with EYS mutations...
July 5, 2017: Seminars in Ophthalmology
https://www.readbyqxmd.com/read/28663585/cib2-interacts-with-tmc1-and-tmc2-and-is-essential-for-mechanotransduction-in-auditory-hair-cells
#13
Arnaud P J Giese, Yi-Quan Tang, Ghanshyam P Sinha, Michael R Bowl, Adam C Goldring, Andrew Parker, Mary J Freeman, Steve D M Brown, Saima Riazuddin, Robert Fettiplace, William R Schafer, Gregory I Frolenkov, Zubair M Ahmed
Inner ear hair cells detect sound through deflection of stereocilia, the microvilli-like projections that are arranged in rows of graded heights. Calcium and integrin-binding protein 2 is essential for hearing and localizes to stereocilia, but its exact function is unknown. Here, we have characterized two mutant mouse lines, one lacking calcium and integrin-binding protein 2 and one carrying a human deafness-related Cib2 mutation, and show that both are deaf and exhibit no mechanotransduction in auditory hair cells, despite the presence of tip links that gate the mechanotransducer channels...
June 29, 2017: Nature Communications
https://www.readbyqxmd.com/read/28653555/usher-s-syndrome-type-ii-a-comparative-study-of-genetic-mutations-and-vestibular-system-evaluation
#14
Giuseppe Magliulo, Giannicola Iannella, Silvia Gagliardi, Nicola Iozzo, Rocco Plateroti, Alessandro Mariottini, Francesca Torricelli
Objective Usher's syndrome type II (USH2) is characterized by moderate to profound congenital hearing loss, later onset of retinitis pigmentosa, and normal vestibular function. Recently, a study investigating the vestibular function of USH2 patients demonstrated a pathologic response to vestibular tests. In this cross-sectional study we performed vestibular tests of a group patients with genetic diagnosis of USH2 syndrome to demonstrate if vestibular damage is present in USH2 patients. Study Design Cross-sectional study...
June 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/28653131/novel-risk-stratification-assays-for-acute-coronary-syndrome
#15
REVIEW
Haitham M Ahmed, Stanley L Hazen
PURPOSE OF REVIEW: Since identification of aspartate aminotransferase as the first cardiac biomarker in the 1950s, there have been a number of new markers used for myocardial damage detection over the decades. There have also been several generations of troponin assays, each with progressively increasing sensitivity for troponin detection. Accordingly, the "standard of care" for myocardial damage detection continues to change. The purpose of this paper is to review the clinical utility, biological mechanisms, and predictive value of these various biomarkers in contemporary clinical studies...
August 2017: Current Cardiology Reports
https://www.readbyqxmd.com/read/28642064/the-genetic-basis-of-deafness-in-populations-of-african-descent
#16
REVIEW
Jason R Rudman, Rosemary I Kabahuma, Sara E Bressler, Yong Feng, Susan H Blanton, Denise Yan, Xue-Zhong Liu
Hearing loss is the most common sensorineural disorder worldwide and is associated with more than 1000 mutations in more than 90 genes. While mutations in genes such as GJB2 (gap-junction protein β 2) and GJB6 (gap-junction protein β 6) are highly prevalent in Caucasian, Asian, and Middle Eastern populations, they are rare in both native African populations and those of African descent. The objective of this paper is to review the current knowledge regarding the epidemiology and genetics of hearing loss in African populations with a focus on native sub-Saharan African populations...
May 6, 2017: Journal of Genetics and Genomics, Yi Chuan Xue Bao
https://www.readbyqxmd.com/read/28633508/rescue-of-peripheral-vestibular-function-in-usher-syndrome-mice-using-a-splice-switching-antisense-oligonucleotide
#17
Sarath Vijayakumar, Frederic F Depreux, Francine M Jodelka, Jennifer J Lentz, Frank Rigo, Timothy A Jones, Michelle L Hastings
Usher syndrome type 1C (USH1C/harmonin) is associated with profound retinal, auditory and vestibular dysfunction. We have previously reported on an antisense oligonucleotide (ASO-29) that dramatically improves auditory function and balance behavior in mice homozygous for the harmonin mutation Ush1c c.216G > A following a single systemic administration. The findings were suggestive of improved vestibular function; however, no direct vestibular assessment was made. Here, we measured vestibular sensory evoked potentials (VsEPs) to directly assess vestibular function in Usher mice...
September 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28632987/the-usher-syndrome-type-iiib-histidyl-trna-synthetase-mutation-confers-temperature-sensitivity
#18
Jamie A Abbott, Ethan Guth, Cindy Kim, Cathy Regan, Victoria M Siu, C Anthony Rupar, Borries Demeler, Christopher S Francklyn, Susan M Robey-Bond
Histidyl-tRNA synthetase (HARS) is a highly conserved translation factor that plays an essential role in protein synthesis. HARS has been implicated in the human syndromes Charcot-Marie-Tooth (CMT) Type 2W and Type IIIB Usher (USH3B). The USH3B mutation, which encodes a Y454S substitution in HARS, is inherited in an autosomal recessive fashion and associated with childhood deafness, blindness, and episodic hallucinations during acute illness. The biochemical basis of the pathophysiologies linked to USH3B is currently unknown...
July 18, 2017: Biochemistry
https://www.readbyqxmd.com/read/28576601/linc-ing-the-noncoding-genome-to-heart-function-beating-hypertrophy
#19
Shambhabi Chatterjee, Christian Bär, Thomas Thum
The principal event of aberrant gene expression occurs in numerous disorders and syndromes, including heart failure. LncRNAs may constitute powerful treatment targets because they intensively interact with their genetic environment, as they are important regulators of genetic networks. Recent advances on the functional roles of lncRNAs in cardiac hypertrophy are expected to usher improved therapeutic strategies.
May 30, 2017: Trends in Molecular Medicine
https://www.readbyqxmd.com/read/28541731/usher-syndrome-and-late-onset-psychosis
#20
Arun Gupta, Tarun Bastiampillai
No abstract text is available yet for this article.
June 2017: Australasian Psychiatry: Bulletin of Royal Australian and New Zealand College of Psychiatrists
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