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Usher syndrome

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https://www.readbyqxmd.com/read/29339184/a-novel-stress-hormone-response-gene-in-tadpoles-of-xenopus-tropicalis
#1
Katelin A Schneider, Leena H Shewade, Nicolas Buisine, Laurent M Sachs, Daniel R Buchholz
Previous work identified a transcribed locus, Str. 34945, induced by the frog stress hormone corticosterone (CORT) in Xenopus tropicalis tails. Because thyroid hormone had no influence on its expression, Str. 34945 was dubbed the first "CORT-only" gene known from tadpoles. Here, we examine the genomic annotation for this transcript, hormone specificity, time course of induction, tissue distribution, and developmental expression profile. The location of Str. 34945 on the X. tropicalis genome lies between the genes ush1g (Usher syndrome 1G) and fads6 (fatty acid desaturase 6)...
January 12, 2018: General and Comparative Endocrinology
https://www.readbyqxmd.com/read/29300381/a-homozygous-founder-missense-variant-in-arylsulfatase-g-abolishes-its-enzymatic-activity-causing-atypical-usher-syndrome-in-humans
#2
Samer Khateb, Björn Kowalewski, Nicola Bedoni, Markus Damme, Netta Pollack, Ann Saada, Alexey Obolensky, Tamar Ben-Yosef, Menachem Gross, Thomas Dierks, Eyal Banin, Carlo Rivolta, Dror Sharon
PurposeWe aimed to identify the cause of disease in patients suffering from a distinctive, atypical form of Usher syndrome.MethodsWhole-exome and genome sequencing were performed in five patients from three families of Yemenite Jewish origin, suffering from distinctive retinal degeneration phenotype and sensorineural hearing loss. Functional analysis of the wild-type and mutant proteins was performed in human fibrosarcoma cells.ResultsWe identified a homozygous founder missense variant, c.133G>T (p.D45Y) in arylsulfatase G (ARSG)...
January 4, 2018: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29287864/identification-of-two-novel-pathogenic-compound-heterozygous-myo7a-mutations-in-usher-syndrome-by-whole-exome-sequencing
#3
Ying Jia, Xiaoge Li, Dong Yang, Yi Xu, Ying Guo, Xin Li
The current study aims to identify the pathogenic sites in a core pedigree of Usher syndrome (USH). A core pedigree of USH was analyzed by whole exome sequencing (WES). Mutations were verified by polymerase chain reaction (PCR) amplification and Sanger sequencing. Two pathogenic variations (c.849+2T>C and c.5994G>A) in MYO7A were successfully identified and individually separated from parents. One variant (c.849+2T>C) was nonsense mutation, causing the protein terminated in advance, and the other one (c...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29287847/targeted-next-generation-sequencing-identified-a-novel-mutation-in-myo7a-causing-usher-syndrome-type-1-in-an-iranian-consanguineous-pedigree
#4
Daniz Kooshavar, Masoumeh Razipour, Morteza Movasat, Mohammad Keramatipour
BACKGROUND: Usher syndrome (USH) is characterized by congenital hearing loss and retinitis pigmentosa (RP) with a later onset. It is an autosomal recessive trait with clinical and genetic heterogeneity which makes the molecular diagnosis much difficult. In this study, we introduce a pedigree with two affected members with USH type 1 and represent a cost and time effective approach for genetic diagnosis of USH as a genetically heterogeneous disorder. METHODS: Target region capture in the genes of interest, followed by next generation sequencing (NGS) was used to determine the causative mutations in one of the probands...
January 2018: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29276601/delayed-diagnosis-of-a-patient-with-usher-syndrome-1c-in-a-louisiana-acadian-family-highlights-the-necessity-of-timely-genetic-testing-for-the-diagnosis-and-management-of-congenital-hearing-loss
#5
Ayesha Umrigar, Amanda Musso, Danielle Mercer, Annette Hurley, Cassondra Glausier, Mona Bakeer, Michael Marble, Chindo Hicks, Fern Tsien
Advances in sequencing technologies and increased understanding of the contribution of genetics to congenital sensorineural hearing loss have led to vastly improved outcomes for patients and their families. Next-generation sequencing and diagnostic panels have become increasingly reliable and less expensive for clinical use. Despite these developments, the diagnosis of genetic sensorineural hearing loss still presents challenges for healthcare providers. Inherited sensorineural hearing loss has high levels of genetic heterogeneity and variable expressivity...
2017: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29259539/the-contribution-of-l-type-cav1-3-channels-to-retinal-light-responses
#6
Liheng Shi, Janet Ya-An Chang, Fei Yu, Michael L Ko, Gladys Y-P Ko
L-type voltage-gated calcium channels (LTCCs) regulate tonic neurotransmitter release from sensory neurons including retinal photoreceptors. There are three types of LTCCs (Cav1.2, Cav1.3, and Cav1.4) expressed in the retina. While Cav1.2 is expressed in all retinal cells including the Müller glia and neurons, Cav1.3 and Cav1.4 are expressed in the retinal neurons with Cav1.4 exclusively expressed in the photoreceptor synaptic terminals. Mutations in the gene encoding Cav1.4 cause incomplete X-linked congenital stationary night blindness in humans...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/29232961/friendships-and-social-participation-as-markers-of-quality-of-life-of-adolescents-and-adults-with-fragile-x-syndrome-and-autism
#7
Leann Smith DaWalt, Lauren V Usher, Jan S Greenberg, Marsha R Mailick
Friendships and social participation are key domains of quality of life for individuals with intellectual disabilities. This study examined the friendships, social and recreational activities, and family social networks of individuals with intellectual disabilities from two distinct diagnostic groups: individuals diagnosed with fragile X syndrome (n = 81) compared with those diagnosed with autistic disorder (n = 226). Within each diagnostic group, individuals in two developmental stages were compared: adolescence and adulthood...
December 1, 2017: Autism: the International Journal of Research and Practice
https://www.readbyqxmd.com/read/29217020/cataract-surgery-outcomes-and-complications-in-retinal-dystrophy-patients
#8
Emma C Davies, Roberto Pineda
OBJECTIVE: To investigate intraoperative complications, postoperative findings, and visual acuity outcomes in patients with retinal dystrophy after cataract surgery. DESIGN: Retrospective chart review at an academic tertiary referral centre. PARTICIPANTS: Thirty eyes from 18 patients with retinitis pigmentosa and other retinal dystrophies (Usher syndrome, Refsum disease, and Leber congenital amaurosis) who underwent cataract surgery were identified by searching the electronic medical record system from January 2010 to September 2015 for all patients treated by a single physician with billing codes for retinal dystrophy and cataract surgery...
December 2017: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://www.readbyqxmd.com/read/29204917/the-outcome-of-cochlear-implantation-among-children-with-genetic-syndromes
#9
Farid Alzhrani, Rayan Alhussini, Rawan Hudeib, Tuqa Alkaff, Tahera Islam, Abdulrahman Alsanosi
OBJECTIVE: To assess the outcome and efficacy of cochlear implantation in children with genetic syndromes. METHOD: Study design: case-control study. SETTING: A cochlear implantation tertiary referral center. PATIENTS: All pediatric cochlear implantation recipients with Waardenburg syndrome, Usher syndrome, Dandy-Walker syndrome, or albinism. A control group was appropriately matched to the syndromic group with regard to age at implantation and duration of device use...
December 4, 2017: European Archives of Oto-rhino-laryngology
https://www.readbyqxmd.com/read/29198280/alzheimer-s-disease-past-present-and-future
#10
Mark W Bondi, Emily C Edmonds, David P Salmon
Although dementia has been described in ancient texts over many centuries (e.g., "Be kind to your father, even if his mind fail him." - Old Testament: Sirach 3:12), our knowledge of its underlying causes is little more than a century old. Alzheimer published his now famous case study only 110 years ago, and our modern understanding of the disease that bears his name, and its neuropsychological consequences, really only began to accelerate in the 1980s. Since then we have witnessed an explosion of basic and translational research into the causes, characterizations, and possible treatments for Alzheimer's disease (AD) and other dementias...
October 2017: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/29196752/combined-genetic-approaches-yield-a-48-diagnostic-rate-in-a-large-cohort-of-french-hearing-impaired-patients
#11
D Baux, C Vaché, C Blanchet, M Willems, C Baudoin, M Moclyn, V Faugère, R Touraine, B Isidor, D Dupin-Deguine, M Nizon, M Vincent, S Mercier, C Calais, G García-García, Z Azher, L Lambert, Y Perdomo-Trujillo, F Giuliano, M Claustres, M Koenig, M Mondain, A F Roux
Hearing loss is the most common sensory disorder and because of its high genetic heterogeneity, implementation of Massively Parallel Sequencing (MPS) in diagnostic laboratories is greatly improving the possibilities of offering optimal care to patients. We present the results of a two-year period of molecular diagnosis that included 207 French families referred for non-syndromic hearing loss. Our multi-step strategy involved (i) DFNB1 locus analysis, (ii) MPS of 74 genes, and (iii) additional approaches including Copy Number Variations, in silico analyses, minigene studies coupled when appropriate with complete gene sequencing, and a specific assay for STRC...
December 1, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29167268/the-shaker-1-mouse-myosin-viia-deafness-mutation-results-in-a-severely-reduced-rate-of-the-atp-hydrolysis-step
#12
Ailian Xiong, Jessica Haithcock, Yingying Liu, Lauren Eusner, Matthew McConnell, Howard D White, Betty Belknap, Eva Forgacs
Mutations in the MYO7A gene, encoding the motor protein myosin VIIa, can cause Usher 1B, a deafness/blindness syndrome in humans, and the shaker-1 phenotype, characterized by deafness, head tossing and circling behavior, in mice. Myosin VIIa is responsible for tension bearing and the transduction mechanism in the stereocilia and for melanosome transport in the retina, in line with the phenotypic outcomes observed in mice. However, the effect of the shaker-1 mutation, a R502P amino acid substitution, on the motor function is unclear...
November 22, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/29151245/hearing-impairment-caused-by-mutations-in-two-different-genes-responsible-for-nonsyndromic-and-syndromic-hearing-loss-within-a-single-family
#13
Katarzyna Niepokój, Agnieszka M Rygiel, Piotr Jurczak, Aleksandra A Kujko, Dominika Śniegórska, Justyna Sawicka, Alicja Grabarczyk, Jerzy Bal, Katarzyna Wertheim-Tysarowska
Usher syndrome is rare genetic disorder impairing two human senses, hearing and vision, with the characteristic late onset of vision loss. This syndrome is divided into three types. In all cases, the vision loss is postlingual, while loss of hearing is usually prelingual. The vestibular functions may also be disturbed in Usher type 1 and sometimes in type 3. Vestibular areflexia is helpful in making a proper diagnosis of the syndrome, but, often, the syndrome is misdiagnosed as a nonsyndromic hearing loss. Here, we present a Polish family with hearing loss, which was clinically classified as nonsyndromic...
November 18, 2017: Journal of Applied Genetics
https://www.readbyqxmd.com/read/29142287/targeted-next-generation-sequencing-in-italian-patients-with-usher-syndrome-phenotype-genotype-correlations
#14
Chiara M Eandi, Laura Dallorto, Roberta Spinetta, Maria Pia Micieli, Mario Vanzetti, Alessandro Mariottini, Ilaria Passerini, Francesca Torricelli, Camilla Alovisi, Cristiana Marchese
We report results of DNA analysis with next generation sequencing (NGS) of 21 consecutive Italian patients from 17 unrelated families with clinical diagnosis of Usher syndrome (4 USH1 and 17 USH2) searching for mutations in 11 genes: MYO7A, CDH23, PCDH15, USH1C, USH1G, USH2A, ADGVR1, DFNB31, CLRN1, PDZD7, HARS. Likely causative mutations were found in all patients: 25 pathogenic variants, 18 previously reported and 7 novel, were identified in three genes (USH2A, MYO7A, ADGRV1). All USH1 presented biallelic MYO7A mutations, one USH2 exhibited ADGRV1 mutations, whereas 16 USH2 displayed USH2A mutations...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29112224/variants-in-cib2-cause-dfnb48-and-not-ush1j
#15
K T Booth, K Kahrizi, M Babanejad, H Daghagh, G Bademci, S Arzhangi, D Zareabdollahi, D Duman, A El-Amraoui, M Tekin, H Najmabadi, H Azaiez, R J Smith
The genetic, mutational and phenotypic spectrum of deafness-causing genes shows great diversity and pleiotropy. The best examples are the group of genes, which when mutated can either cause non-syndromic hearing loss (NSHL) or the most common dual sensory impairment, Usher Syndrome (USH). Variants in the CIB2 gene have been previously reported to cause of hearing loss at the DFNB48 locus and deaf-blindness at the USH1J locus. In this study, we characterize the phenotypic spectrum in a multiethnic cohort with autosomal recessive non-syndromic hearing loss (ARNSHL) due to variants in the CIB2 gene...
November 7, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/29106856/genetic-analysis-of-a-chinese-family-with-members-affected-with-usher-syndrome-type-ii-and-waardenburg-syndrome-type-iv
#16
Xueling Wang, Xiao-Jiang Lin, Xiangrong Tang, Yong-Chuan Chai, De-Hong Yu, Dong-Ye Chen, Hao Wu
AIMS: The purpose of this study was to identify the genetic causes of a family presenting with multiple symptoms overlapping Usher syndrome type II (USH2) and Waardenburg syndrome type IV (WS4). METHODS: Targeted next-generation sequencing including the exon and flanking intron sequences of 79 deafness genes was performed on the proband. Co-segregation of the disease phenotype and the detected variants were confirmed in all family members by PCR amplification and Sanger sequencing...
November 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/29057663/gene-therapy-for-inherited-retinal-and-optic-nerve-degenerations
#17
Nicholas A Moore, Nuria Morral, Thomas A Ciulla, Peter Bracha
The eye is a target for investigational gene therapy due to the monogenic nature of many inherited retinal and optic nerve degenerations (IRD), its accessibility, tight blood-ocular barrier, the ability to non-invasively monitor for functional and anatomic outcomes, as well as its relative immune privileged state.Vectors currently used in IRD clinical trials include adeno-associated virus (AAV), small single-stranded DNA viruses, and lentivirus, RNA viruses of the retrovirus family. Both can transduce non-dividing cells, but AAV are non-integrating, while lentivirus integrate into the host cell genome, and have a larger transgene capacity...
October 23, 2017: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/29044151/modeling-and-preventing-progressive-hearing-loss-in-usher-syndrome-iii
#18
Ruishuang Geng, Akil Omar, Suhasini R Gopal, Daniel H-C Chen, Ruben Stepanyan, Martin L Basch, Astra Dinculescu, David N Furness, David Saperstein, William Hauswirth, Lawrence R Lustig, Kumar N Alagramam
Usher syndrome type III (USH3) characterized by progressive loss of vision and hearing is caused by mutations in the clarin-1 gene (CLRN1). Clrn1 knockout (KO) mice develop hair cell defects by postnatal day 2 (P2) and are deaf by P21-P25. Early onset profound hearing loss in KO mice and lack of information about the cochlear cell type that requires Clrn1 expression pose challenges to therapeutic investigation. We generated KO mice harboring a transgene, TgAC1, consisting of Clrn1-UTR (Clrn1 cDNA including its 5' and 3' UTR) under the control of regulatory elements (Atoh1 3' enhancer/β-globin basal promoter) to direct expression of Clrn1 in hair cells during development and down regulate it postnatally...
October 18, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29037661/antisense-oligonucleotide-therapy-rescues-disruptions-in-organization-of-exploratory-movements-associated-with-usher-syndrome-type-1c-in-mice
#19
Tia N Donaldson, Kelsey T Jennings, Lucia A Cherep, Adam M McNeela, Frederic F Depreux, Francine M Jodelka, Michelle L Hastings, Douglas G Wallace
Usher syndrome, Type 1C (USH1C) is an autosomal recessive inherited disorder in which a mutation in the gene encoding harmonin is associated with multi-sensory deficits (i.e., auditory, vestibular, and visual). USH1C (Usher) mice, engineered with a human USH1C mutation, exhibit these multi-sensory deficits by circling behavior and lack of response to sound. Administration of an antisense oligonucleotide (ASO) therapeutic that corrects expression of the mutated USH1C gene, has been shown to increase harmonin levels, reduce circling behavior, and improve vestibular and auditory function...
February 15, 2018: Behavioural Brain Research
https://www.readbyqxmd.com/read/29027038/rescue-of-outer-hair-cells-with-antisense-oligonucleotides-in-usher-mice-is-dependent-on-age-of-treatment
#20
Abhilash Ponnath, Frederic F Depreux, Francine M Jodelka, Frank Rigo, Hamilton E Farris, Michelle L Hastings, Jennifer J Lentz
The absence of functional outer hair cells is a component of several forms of hereditary hearing impairment, including Usher syndrome, the most common cause of concurrent hearing and vision loss. Antisense oligonucleotide (ASO) treatment of mice with the human Usher mutation, Ush1c c.216G>A, corrects gene expression and significantly improves hearing, as measured by auditory-evoked brainstem responses (ABRs), as well as inner and outer hair cell (IHC and OHC) bundle morphology. However, it is not clear whether the improvement in hearing achieved by ASO treatment involves the functional rescue of outer hair cells...
October 12, 2017: Journal of the Association for Research in Otolaryngology: JARO
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