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https://www.readbyqxmd.com/read/28225033/rapid-and-reliable-detection-of-nonsyndromic-hearing-loss-mutations-by-multicolor-melting-curve-analysis
#1
Xudong Wang, Yongjun Hong, Peihong Cai, Ning Tang, Ying Chen, Tizhen Yan, Yinghua Liu, Qiuying Huang, Qingge Li
Hearing loss is a common birth defect worldwide. The GJB2, SLC26A4, MT-RNR1 and MT-TS1 genes have been reported as major pathogenic genes in nonsyndromic hearing loss. Early genetic screening is recommended to minimize the incidence of hearing loss. We hereby described a multicolor melting curve analysis (MMCA)-based assay for simultaneous detection of 12 prevalent nonsyndromic hearing loss-related mutations. The three-reaction assay could process 30 samples within 2.5 h in a single run on a 96-well thermocycler...
February 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28222800/exome-sequencing-identifies-slc26a4-gjb2-scarb2-and-duox2-mutations-in-2-siblings-with-pendred-syndrome-in-a-malaysian-family
#2
Yock-Ping Chow, Nor Azian Abdul Murad, Zamzureena Mohd Rani, Jia-Shiun Khoo, Pei-Sin Chong, Loo-Ling Wu, Rahman Jamal
BACKGROUND: Pendred syndrome (PDS, MIM #274600) is an autosomal recessive disorder characterized by congenital sensorineural hearing loss and goiter. In this study, we describing the possible PDS causal mutations in a Malaysian family with 2 daughters diagnosed with bilateral hearing loss and hypothyroidism. METHODS AND RESULTS: Whole exome sequencing was performed on 2 sisters with PDS and their unaffected parents. Our results showed that both sisters inherited monoallelic mutations in the 2 known PDS genes, SLC26A4 (ENST00000265715:c...
February 21, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28212331/analysis-of-epidermal-growth-factor-receptor-related-gene-expression-changes-in-a-cellular-and-animal-model-of-parkinson-s-disease
#3
In-Su Kim, Sushruta Koppula, Shin-Young Park, Dong-Kug Choi
We employed transcriptome analysis of epidermal growth factor receptor related gene expression changes in cellular and animal models of Parkinson's disease (PD). We used a well-known Parkinsonian toxin 1-methyl-4-phenylpyridine (MPP⁺) to induce neuronal apoptosis in the human neuroblastoma SH-SY5Y cell line. The MPP⁺-treatment of SH-SY5Y cells was capable of inducing neuro-apoptosis, but it remains unclear what kinds of transcriptional genes are affected by MPP⁺ toxicity. Therefore the pathways that were significantly perturbed in MPP⁺ treated human neuroblastoma SH-SY5Y cells were identified based on genome-wide gene expression data at two time points (24 and 48 h)...
February 16, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28198501/effect-of-gjb2-235delc-and-30-35delg-genetic-polymorphisms-on-risk-of-congenital-deafness-in-a-chinese-population
#4
Y Xiong, M Zhong, J Chen, Y L Yan, X F Lin, X Li
Congenital deafness is a serious and irreversible condition in humans. The GJB2 gene is implicated in the pathogenesis of autosomal recessive nonsyndromic hearing loss. Its 235delC and 30-35delG polymorphisms are reported to be associated with risk of hereditary deafness. However, the effect of the interaction between GJB2 235delC and 30-35delG and environmental factors on congenital deafness has not been described. Therefore, we performed a case-control study to investigate the influence of these polymorphisms on congenital deafness risk, and their interaction with maternal and other environmental factors in the development of this disease...
February 8, 2017: Genetics and Molecular Research: GMR
https://www.readbyqxmd.com/read/28193317/identification-of-differentially-expressed-placental-transcripts-during-multiple-gestations-in-the-eurasian-beaver-castor-fiber-l
#5
A Lipka, L Paukszto, M Majewska, J P Jastrzebski, K Myszczynski, G Panasiewicz, B Szafranska
The Eurasian beaver is one of the largest rodents that, despite its high impact on the environment, is a non-model species that lacks a reference genome. Characterising genes critical for pregnancy outcome can serve as a basis for identifying mechanisms underlying effective reproduction, which is required for the success of endangered species conservation programs. In the present study, high-throughput RNA sequencing (RNA-seq) was used to analyse global changes in the Castor fiber subplacenta transcriptome during multiple pregnancy...
February 14, 2017: Reproduction, Fertility, and Development
https://www.readbyqxmd.com/read/28177904/genome-scale-analysis-identifies-gjb2-and-ero1lb-as-prognosis-markers-in-patients-with-pancreatic-cancer
#6
Tao Zhu, Yuan-Feng Gao, Yi-Xin Chen, Zhi-Bin Wang, Ji-Ye Yin, Xiao-Yuan Mao, Xi Li, Wei Zhang, Hong-Hao Zhou, Zhao-Qian Liu
Pancreatic cancer is a complex and heterogeneous disease with the etiology largely unknown. The deadly nature of pancreatic cancer, with an extremely low 5-year survival rate, renders urgent a better understanding of the molecular events underlying it. The aim of this study is to investigate the gene expression module of pancreatic adenocarcinoma and to identify differentially expressed genes (DEGs) with prognostic potentials. Transcriptome microarray data of five GEO datasets (GSE15471, GSE16515, GSE18670, GSE32676, GSE71989), including 117 primary tumor samples and 73 normal pancreatic tissue samples, were utilized to identify DEGs...
February 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28151902/clinical-pathological-and-genetic-evaluations-of-chinese-patient-with-otodental-syndrome-and-multiple-complex-odontoma-case-report
#7
Anqi Liu, Meiling Wu, Xiaohe Guo, Hao Guo, Zhifei Zhou, Kewen Wei, Kun Xuan
Otodental syndrome is a rare autosomal-dominant disease characterized by globodontia, associated with sensorineural, high-frequency hearing loss. Here, we describe the clinical, pathological, and genetic evaluations of a 9-year-old girl with otodental syndrome and multiple complex odontoma.The patient presented with a draining sinus tract in her left cheek, globodontia, and hearing loss. The odontomas which caused the cutaneous sinus tracts were extracted because of the odontogenic infection. The extracted odontoma and primary tooth was studied by micro-CT and further observed histopathologically...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28102197/a-novel-dominant-gjb2-dfna3-mutation-in-a-chinese-family
#8
Hongyang Wang, Kaiwen Wu, Lan Yu, Linyi Xie, Wenping Xiong, Dayong Wang, Jing Guan, Qiuju Wang
To decipher the phenotype and genotype of a Chinese family with autosomal dominant non-syndromic hearing loss (ADNSHL) and a novel dominant missense mutation in the GJB2 gene (DFNA3), mutation screening of GJB2 was performed on the propositus from a five-generation ADNSHL family through polymerase chain reaction amplification and Sanger sequencing. The candidate variation and the co-segregation of the phenotype were verified in all ascertained family members. Targeted genes capture and next-generation sequencing (NGS) were performed to explore additional genetic variations...
January 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28093008/hearing-loss-associated-gene-detection-in-neonatal-intensive-care-unit
#9
S M Yang, Ying Liu, C Liu, A H Yin, Y F Wu, X E Zheng, H M Yang, J Yang
OBJECTIVE: To investigate the frequency and mutation spectrum of hearing loss associated gene mutation in Neonatal Intensive Care Unit (NICU). METHODS: Neonates (n = 2305) admitted to NICU were enrolled in this study. Nine prominent hearing loss associated genes, GJB2 (35 del G, 176 del 16,235 del C, 299 del AT), GJB3 (538 C > T), SLC26A4 (IVS7-2A > G, 2168 A > G) and mtDNA 12S rRNA(1555 A > G, 1494 C > T), were detected. RESULT: There were 73 cases hearing-loss-associated gene mutation among 2305 cases, the mutation frequency was 3...
January 17, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28086997/enamel-renal-syndrome-in-2-patients-with-a-mutation-in-fam20-a-and-atypical-hypertrichosis-and-hearing-loss-phenotypes
#10
Sabina Pena B Pêgo, Ricardo D Coletta, Simona Dumitriu, Daniela Iancu, Saleh Albanyan, Robert Kleta, Maria Teresa Auricchio, Luis Antônio Santos, Breno Rocha, Hercílio Martelli-Júnior
Enamel-renal syndrome (OMIM #204690) is an uncommon disorder characterized by amelogenesis imperfecta and nephrocalcinosis and is caused by mutations in FAM20 A. We report 2 patients with enamel-renal syndrome who exhibited the typical features of this syndrome and a homozygous nonsense mutation in the FAM20 A gene (c.406 C>T), genetically confirming the diagnosis. They also exhibited 2 undescribed clinical features, hypertrichosis and hearing loss. Alterations in genes frequently associated with nonsyndromic hearing loss in the Brazilian population, including connexin 26 (GJB2), connexin 30 (GJB6) and mitochondrial 12 S rRNA (m...
February 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/28033238/congenital-cytomegalovirus-infection-and-permanent-hearing-loss-in-rural-north-indian-children
#11
Lalit Dar, Divya Namdeo, Pankaj Kumar, Alok Thakar, Shashi Kant, Sanjay Rai, Pawan K Singh, Madhulika Kabra, Karen B Fowler, Suresh B Boppana
BACKGROUND: Congenital cytomegalovirus infection (cCMV) is a leading non-genetic cause of permanent congenital or early-onset hearing loss (PCEHL). Although cCMV rates are high despite near-universal seroimmunity, the contribution of cCMV to PCEHL in the developing world is unclear. METHODS: Neonates at a rural north Indian hospital were screened for cCMV by saliva PCR and hearing by distortion product otoacoustic emission (DPOAE) testing. CMV positive infants and those not passing newborn hearing screening (NHS) were evaluated by auditory brainstem response to confirm PCEHL...
December 28, 2016: Pediatric Infectious Disease Journal
https://www.readbyqxmd.com/read/28012541/a-novel-tecta-mutation-causes-arnshl
#12
Samira Asgharzade, Mohammad Amin Tabatabaiefar, Mohammad Hossein Modarressi, Mohammad Hossein Ghahremani, Somayeh Reiisi, Parisa Tahmasebi, Fatemeh Abdollahnejad, Morteza Hashemzadeh Chaleshtori
OBJECTIVE: Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous sensorineural disorder. Alpha-tectorin, which is encoded by the TECTA gene, is a non-collagenous component of the tectorial membrane in the inner ear defect of which leads to moderate to severe hearing loss (HL). METHODS: 25 unrelated Iranian multiplex ARNSHL families, negative for GJB2 mutations, were recruited in this study. Clinical inspections including audiometric and otologic examinations ruled out syndromic forms...
January 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28012540/first-report-of-prevalence-c-ivs1-1g-a-and-del-gjb6-13s1854-mutations-in-syrian-families-with-non-syndromic-sensorineural-hearing-loss
#13
Walid Al-Achkar, Bassel Al-Halabi, Bashar Ali, Faten Moassass
OBJECTIVE: Mutations in GJB2 and GJB6 genes are a frequent cause of congenital non-syndromic hearing loss (NSHL). Mutational screening has usually focused on coding region of GJB2 gene. A few studies have been conducted on the non-coding region and exon 1. c.IVS1+1G>A (a splice site mutation in GJB2 gene have been detected as disruptive mutation. Del (GJB6 D13S1830) is found in many populations, but del (GJB6 D13S1854) is reported from a few restricted countries. This study was carried out to investigate the prevalence of splice site mutation c...
January 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28012523/digenic-mutations-involving-both-the-bsnd-and-gjb2-genes-detected-in-bartter-syndrome-type-iv
#14
Hong-Han Wang, Yong Feng, Hai-Bo Li, Hong Wu, Ling-Yun Mei, Xing-Wei Wang, Lu Jiang, Chu-Feng He
Bartter syndrome type IV, characterized by salt-losing nephropathies and sensorineural deafness, is caused by mutations of BSND or simultaneous mutations of both CLCNKA and CLCNKB. GJB2 is the primary causative gene for non-syndromic sensorineural deafness and associated with several syndromic sensorineural deafness. Owing to the rarity of Bartter syndrome, only a few mutations have been reported in the abovementioned causative genes. To investigate the underlying mutations in a Chinese patient with Bartter syndrome type IV, genetic analysis of BSND, CLCNKA, CLCNKB and GJB2 were performed by polymerase chain reaction and direct sequencing...
January 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28000701/the-diagnostic-yield-of-whole-exome-sequencing-targeting-a-gene-panel-for-hearing-impairment-in-the-netherlands
#15
Celia Zazo Seco, Mieke Wesdorp, Ilse Feenstra, Rolph Pfundt, Jayne Y Hehir-Kwa, Stefan H Lelieveld, Steven Castelein, Christian Gilissen, Ilse J de Wijs, Ronald Jc Admiraal, Ronald Je Pennings, Henricus Pm Kunst, Jiddeke M van de Kamp, Saskia Tamminga, Arjan C Houweling, Astrid S Plomp, Saskia M Maas, Pia Am de Koning Gans, Sarina G Kant, Christa M de Geus, Suzanna Gm Frints, Els K Vanhoutte, Marieke F van Dooren, Marie-José H van den Boogaard, Hans Scheffer, Marcel Nelen, Hannie Kremer, Lies Hoefsloot, Margit Schraders, Helger G Yntema
Hearing impairment (HI) is genetically heterogeneous which hampers genetic counseling and molecular diagnosis. Testing of several single HI-related genes is laborious and expensive. In this study, we evaluate the diagnostic utility of whole-exome sequencing (WES) targeting a panel of HI-related genes. Two hundred index patients, mostly of Dutch origin, with presumed hereditary HI underwent WES followed by targeted analysis of an HI gene panel of 120 genes. We found causative variants underlying the HI in 67 of 200 patients (33...
February 2017: European Journal of Human Genetics: EJHG
https://www.readbyqxmd.com/read/27984600/-identification-of-novel-common-mutations-among-patients-with-non-syndromic-hearing-loss-with-high-throughput-gene-capture-technology
#16
Yongan Zhou, Hongyan Zeng, Xiangshao Li, Huifang Yang, Wei Guo, Ziqi Hao, Pengli Li, Jiao Li, Xiaoli Zhao, Xiang Wang, Li Xia, Siqi Ma
OBJECTIVE: To identify novel common mutations among patients with non-syndromic hearing loss (NSHL). METHODS: High-throughput gene capture technology was used to analyze 18 patients with NSHL in whom common mutations of deafness genes including GJB2, SLC26A4, GJB3, and mtDNA were excluded. Suspected mutation was verified with Sanger sequencing. RESULTS: Next generation sequencing has identified 62 mutations in 29 genes associated with hearing loss, which included 54 missense mutations, 4 splicing mutations, 3 deletional mutations, and 1 nonsense mutation...
December 10, 2016: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/27968899/deafness-genes-in-families-with-non-syndromic-hearing-loss-in-shandong-china-a-genetic-study
#17
Xiaohui Bai, Lei Xu, Fengguo Zhang, Yun Xiao, Jianfeng Li, Haibo Wang
BACKGROUND: Hearing loss is the most frequent sensory disorder, affecting 1 in 500 newborns. More than 90 genes are associated with non-syndromic hearing loss. In this study we aimed to investigate the genetic etiology of families with non-syndromic hearing loss in Shandong, China. METHODS: Patients included in this study were sequentially referred to the Otolaryngology Department, Shandong Provincial Hospital. All participants (or their parents) gave informed consent...
October 2016: Lancet
https://www.readbyqxmd.com/read/27870113/targeted-resequencing-of-deafness-genes-reveals-a-founder-myo15a-variant-in-northeastern-brazil
#18
Gabrielle N Manzoli, Guney Bademci, Angelina X Acosta, Têmis M Félix, F Basak Cengiz, Joseph Foster, Danniel S Dias Da Silva, Ibis Menendez, Isalis Sanchez-Pena, Demet Tekin, Susan H Blanton, Kiyoko Abe-Sandes, Xue Zhong Liu, Mustafa Tekin
Identifying the genetic etiology in a person with hearing loss (HL) is challenging due to the extreme genetic heterogeneity in HL and the population-specific variability. In this study, after excluding GJB2 variants, targeted resequencing of 180 deafness-related genes revealed the causative variants in 11 of 19 (58%) Brazilian probands with autosomal recessive HL. Identified pathogenic variants were in MYO15A (10 families) and CLDN14 (one family). Remarkably, the MYO15A p.(Val1400Met) variant was identified in eight families from the city of Monte Santo in the northeast region of Brazil...
November 2016: Annals of Human Genetics
https://www.readbyqxmd.com/read/27862068/development-and-validation-of-a-fetal-genotyping-assay-with-potential-for-noninvasive-prenatal-diagnosis-of-hereditary-hearing-loss
#19
Ying Chen, Yiqian Liu, Benjing Wang, Jun Mao, Ting Wang, Kan Ye, Yanlin Ye, David S Cram, Hong Li
OBJECTIVE: Inherited non-syndromic hearing loss (NSHL) is a common sensory disorder that afflicts otherwise healthy individuals. The aim of the study was to evaluate the performance of circulating single molecule amplification and re-sequencing technology (cSMART) for non-invasive prenatal testing (NIPT) of NSHL. METHOD: Neonatal inheritance of NSHL mutations was determined from bloodspots using SNaPshot genotyping. NIPT of cell-free DNA for fetal NSHL mutations in the GJB2, GJB3 and SLC26A4 genes was performed by a multiplex cSMART assay...
December 2016: Prenatal Diagnosis
https://www.readbyqxmd.com/read/27861301/a-novel-mutation-in-slc26a4-causes-nonsyndromic-autosomal-recessive-hearing-impairment
#20
Axel Wolf, Alexandra Frohne, Matthew Allen, Thomas Parzefall, Martin Koenighofer, Markus M Schreiner, Christian Schoefer, Klemens Frei, Trevor Lucas
BACKGROUND: Heterozygous mutations in GJB2 (MIM: 121011) encoding the gap junction protein connexin 26 are overrepresented in patient groups suffering from nonsyndromic sensorineural hearing impairment (HI) implying the involvement of additional genetic factors. Mutations in SLC26A4 (MIM: 605646), encoding the protein pendrin can cause both Pendred syndrome and autosomal recessive, nonsyndromic HI locus 4 type sensorineural HI (MIM: 600791). OBJECTIVES: Aim of this study was to investigate the role of SLC26A4 coding mutations in a nonsyndromic hearing impairment (NSHI) patient group bearing heterozygous GJB2 35delG mutations...
November 17, 2016: Otology & Neurotology
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