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Genetic Sensorineural Hearing Loss

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Bibliometric analysis of potassium channel research.

Jingjing Shi, Shuqing Shi, Shuai Shi, Qiulei Jia, Guozhen Yuan, Yuguang Chu, Huan Wang, Yuanhui Hu, Hanming Cui,

OBJECTIVE:To explore the research status, hotspots, and trends in research on potassium channel. METHODS:The Web of Science core collection database was used as the data source and the visual analysis software Citespace5.4 R3 was used to visualize the studies of potassium channel in the past 10 years. The national/institutional distribution, ... Read more >>

Channels (Austin) (Channels (Austin, Tex.))
[2020, 14(1):18-27]

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Genetics of Postlingual Sensorineural Hearing Loss.

Shadi Ahmadmehrabi, Jason Brant, Douglas J Epstein, Michael J Ruckenstein, Daniel J Rader,

Literature and clinical practice around adult-onset hearing loss (HL) has traditionally focused on environmental risk factors, including noise exposure, ototoxic drug exposure, and cardiovascular disease. The most common diagnosis in adult-onset HL is presbycusis. However, the age of onset of presbycusis varies, and patients often describe family history of HL ... Read more >>

Laryngoscope (The Laryngoscope)
[2020, :]

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Middle-age-onset cerebellar ataxia caused by a homozygous TWNK variant: a case report.

Kodai Kume, Hiroyuki Morino, Ryosuke Miyamoto, Yukiko Matsuda, Ryosuke Ohsawa, Yuhei Kanaya, Yui Tada, Takashi Kurashige, Hideshi Kawakami,

BACKGROUND:The TWNK gene encodes the twinkle protein, which is a mitochondrial helicase for DNA replication. The dominant TWNK variants cause progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, while the recessive variants cause mitochondrial DNA depletion syndrome 7 and Perrault syndrome 5. Perrault syndrome is characterized by sensorineural ... Read more >>

BMC Med. Genet. (BMC medical genetics)
[2020, 21(1):68]

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Genetic Hearing Loss Associated With Autoinflammation.

Hiroshi Nakanishi, Pragya Prakash, Taku Ito, H Jeffrey Kim, Carmen C Brewer, Danielle Harrow, Isabelle Roux, Seiji Hosokawa, Andrew J Griffith,

Sensorineural hearing loss can result from dysfunction of the inner ear, auditory nerve, or auditory pathways in the central nervous system. Sensorineural hearing loss can be associated with age, exposure to ototoxic drugs or noise, or mutations in nuclear or mitochondrial genes. However, it is idiopathic in some patients. Although ... Read more >>

Front Neurol (Frontiers in Neurology)
[2020, 11:141]

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Bimodal strategy for excellent audiological rehabilitation in a subject with a novel nonsense mutation of the SLC26A4 gene: A case report.

Rita Malesci, Roberta Russo, Carmela Monzillo, Carla Laria, Virginia Corvino, Gennaro Auletta, Achille Iolascon, Annamaria Franzè,

Sensorineural hearing loss is a heterogeneous disease caused by mutations in many genes. However, in the presence of enlarged vestibular aqueduct, it is frequently associated with mutations in the solute carrier family 26 member 4 (SLC26A4), a gene causative of a syndromic form (Pendred) as well as a non-syndromic form ... Read more >>

Int. J. Pediatr. Otorhinolaryngol. (International journal of pediatric otorhinolaryngology)
[2020, 134:110018]

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Lin28 reprograms inner ear glia to a neuronal fate.

Judith S Kempfle, Ngoc-Nhi C Luu, Marco Petrillo, Reef Al-Asad, Andrea Zhang, Albert S B Edge,

Sensorineural hearing loss is irreversible and can be caused by loss of auditory neurons. Regeneration of neural cells from endogenous cells may offer a future tool to restore the auditory circuit and to enhance the performance of implantable hearing devices. Neurons and glial cells in the peripheral nervous system are ... Read more >>

Stem Cells (Stem cells (Dayton, Ohio))
[2020, :]

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Exome sequencing identifies PEX6 mutations in three cases diagnosed with Retinitis Pigmentosa and hearing impairment.

Gema García-García, Iker Sanchez-Navarro, Elena Aller, Teresa Jaijo, Carla Fuster-Garcia, Ana Rodríguez-Munoz, Elena Vallejo, Juan José Tellería, Selma Vázquez, Sergi Beltrán, Sophia Derdak, Olga Zurita, Cristina Villaverde-Montero, Almudena Avila-Fernández, Marta Corton, Fiona Blanco-Kelly, Hakon Hakonarson, José M Millán, Carmen Ayuso,

Purpose:The aim of the present work is the molecular diagnosis of three patients with deafness and retinal degeneration. Methods:Three patients from two unrelated families were initially analyzed with custom gene panels for Usher genes, non-syndromic hearing loss, or inherited syndromic retinopathies and further investigated by means of clinical or whole ... Read more >>

Mol. Vis. (Molecular vision)
[2020, 26:216-225]

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Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach.

Bong Jik Kim, Doo-Yi Oh, Jin Hee Han, Jayoung Oh, Min Young Kim, Hye-Rim Park, Jungirl Seok, Sung-Dong Cho, Sang-Yeon Lee, Yoonjoong Kim, Marge Carandang, In Sun Kwon, Seungmin Lee, Jeong Hun Jang, Yun-Hoon Choung, Sejoon Lee, Hakmin Lee, Sang Mee Hwang, Byung Yoon Choi,

PURPOSE:Timely diagnosis and identification of etiology of pediatric mild-to-moderate sensorineural hearing loss (SNHL) are both medically and socioeconomically important. However, the exact etiologic spectrum remains uncertain. We aimed to establish a genetic etiological spectrum, including copy-number variations (CNVs) and efficient genetic testing pipeline, of this defect. METHODS:A cohort of prospectively ... Read more >>

Genet. Med. (Genetics in Medicine)
[2020, :]

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In silico analysis of a novel causative mutation in Cadherin23 gene identified in an Omani family with hearing loss.

Mohammed Nasser Al-Kindi, Mazin Jawad Al-Khabouri, Khalsa Ahmad Al-Lamki, Flavia Palombo, Tommaso Pippucci, Giovanni Romeo, Nadia Mohammed Al-Wardy,

BACKGROUND:Hereditary hearing loss is a heterogeneous group of complex disorders with an overall incidence of one in every 500 newborns presented as syndromic and non-syndromic forms. Cadherin-related 23 (CDH23) is one of the listed deafness causative genes. It is found to be expressed in the stereocilia of hair cells and ... Read more >>

J Genet Eng Biotechnol (Journal, genetic engineering & biotechnology)
[2020, 18(1):8]

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Five Novel Mutations in LOXHD1 Gene Were Identified to Cause Autosomal Recessive Nonsyndromic Hearing Loss in Four Chinese Families.

Xiaohui Bai, Chi Zhang, Fengguo Zhang, Yun Xiao, Yu Jin, Haibo Wang, Lei Xu,

Hearing loss is one of the most common sensory disorders in newborns and is mostly caused by genetic factors. Autosomal recessive nonsyndromic hearing loss (ARNSHL) is usually characterized as a severe-to-profound congenital sensorineural hearing loss and later can cause various degrees of defect in the language and intelligent development of ... Read more >>

Biomed Res Int (BioMed Research International)
[2020, 2020:1685974]

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Burden of Rare Variants in the OTOG Gene in Familial Meniere's Disease.

Pablo Roman-Naranjo, Alvaro Gallego-Martinez, Andrés Soto-Varela, Ismael Aran, Maria Del Carmen Moleon, Juan Manuel Espinosa-Sanchez, Juan Carlos Amor-Dorado, Angel Batuecas-Caletrio, Paz Perez-Vazquez, Jose Antonio Lopez-Escamez,

OBJECTIVES:Meniere's disease (MD) is a rare inner ear disorder characterized by sensorineural hearing loss, episodic vertigo, and tinnitus. Familial MD has been reported in 6 to 9% of sporadic cases, and few genes including FAM136A, DTNA, PRKCB, SEMA3D, and DPT have been involved in single families, suggesting genetic heterogeneity. In ... Read more >>

Ear Hear (Ear and hearing)
[2020, :]

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Towards the optical cochlear implant: optogenetic approaches for hearing restoration.

Alexander Dieter, Daniel Keppeler, Tobias Moser,

Cochlear implants (CIs) are considered the most successful neuroprosthesis as they enable speech comprehension in the majority of half a million CI users suffering from sensorineural hearing loss. By electrically stimulating the auditory nerve, CIs constitute an interface re-connecting the brain and the auditory scene, providing the patient with information ... Read more >>

EMBO Mol Med (EMBO molecular medicine)
[2020, 12(4):e11618]

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Prelingual Sensorineural Hearing Loss Caused by a Novel GJB2 Dominant Mutation in a Chinese Family.

Shasha Huang, Xue Gao, Yufeng Wang, Dongyang Kang, Xin Zhang, Suyan Yang, Pu Dai,

Background:GJB2 mutation is the most common cause of genetic deafness. Many pathogenic variations have already been identified, and thus, fewer and fewer novel pathogenic variations remain to be identified. Here, we describe a novel pathogenic variation associated with dominant hereditary deafness in a Chinese family. Methods:In this study, we examined ... Read more >>

Biomed Res Int (BioMed research international)
[2020, 2020:6370386]

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Novel heterozygous GATA3 and SLC34A3 variants in a 6-year-old boy with Barakat syndrome and hypercalciuria.

Sha Yu, Wen-Xia Chen, Wei Lu, Chao Chen, Yihua Ni, Bo Duan, Bin Wang, Huijun Wang, Zheng-Min Xu,

BACKGROUND:Barakat syndrome is an autosomal dominant disorder characterized by the triad of hypoparathyroidism, sensorineural deafness, and renal anomalies and is caused by mutations in GATA3 gene. SLC34A3 is the cause gene of hypophosphatemic rickets with hypercalciuria, and heterozygous carriers may have milder clinical symptoms. The aim of this study was ... Read more >>

Mol Genet Genomic Med (Molecular genetics & genomic medicine)
[2020, :e1222]

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Two monogenic disorders masquerading as one: severe congenital neutropenia with monocytosis and non-syndromic sensorineural hearing loss.

Parvathy Venugopal, Lucia Gagliardi, Cecily Forsyth, Jinghua Feng, Kerry Phillips, Milena Babic, Nicola K Poplawski, Hugh Young Rienhoff, Andreas W Schreiber, Christopher N Hahn, Anna L Brown, Hamish S Scott,

BACKGROUND:We report a large family with four successive generations, presenting with a complex phenotype of severe congenital neutropenia (SCN), partially penetrant monocytosis, and hearing loss of varying severity. METHODS:We performed whole exome sequencing to identify the causative variants. Sanger sequencing was used to perform segregation analyses on remaining family members. ... Read more >>

BMC Med. Genet. (BMC medical genetics)
[2020, 21(1):35]

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Aymé-Gripp Syndrome

Shivarajan Manickavasagam Amudhavalli, Randi Gadea, Karen Gripp,

CLINICAL CHARACTERISTICS:Aymé-Gripp syndrome is classically defined as the triad of bilateral early cataracts, sensorineural hearing loss, and characteristic facial features in combination with neurodevelopmental abnormalities. The facial features are often described as "Down syndrome-like" and include brachycephaly, flat facial appearance, short nose, long philtrum, narrow mouth, and low-set and posteriorly ... Read more >>

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Cochlear Implantation From the Perspective of Genetic Background.

Shin-Ichi Usami, Shin-Ya Nishio, Hideaki Moteki, Maiko Miyagawa, Hidekane Yoshimura,

While cochlear implantation (CI) technology has greatly improved over the past 40 years, one aspect of CI that continues to pose difficulties is the variability of outcomes due to numerous factors involved in postimplantation performance. The electric acoustic stimulation (EAS) system has expanded indications for CI to include patients with residual ... Read more >>

Anat Rec (Hoboken) (Anatomical record (Hoboken, N.J. : 2007))
[2020, 303(3):563-593]

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[A novel variation in ATP1A3 gene in a child with CAPOS syndrome].

F Zhang, J Wang, L P Zou, M N Zhang, S Dun, G Yang,

Zhonghua Er Ke Za Zhi (Zhonghua er ke za zhi = Chinese journal of pediatrics)
[2020, 58(3):233-235]

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Integrating Cupping Therapy in the Management of Sudden Sensorineural Hearing Loss: A Case Report.

Zainab A Almusleh, Walid El Ansari,

Sudden sensorineural hearing loss (SSNHL) is most often defined as a rapid hearing loss of ≥ 30 decibels across at least three contiguous audiometric frequencies over a time of ≤ 72 hours. Cupping therapy has been practiced across the world for thousands of years. Cupping therapy is practiced by creating ... Read more >>

Cureus (Cureus)
[2020, 12(2):e7063]

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Hearing Impairment Overview in Africa: the Case of Cameroon.

Edmond Wonkam Tingang, Jean Jacques Noubiap, Jean Valentin F Fokouo, Oluwafemi Gabriel Oluwole, Séraphin Nguefack, Emile R Chimusa, Ambroise Wonkam,

The incidence of hearing impairment (HI) is higher in low- and middle-income countries when compared to high-income countries. There is therefore a necessity to estimate the burden of this condition in developing world. The aim of our study was to use a systematic approach to provide summarized data on the ... Read more >>

Genes (Basel) (Genes)
[2020, 11(2):]

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Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.

Matias Morin, Anna-Lena Forst, Paula Pérez-Torre, Adriano Jiménez-Escrig, Verónica Barca-Tierno, Eva García-Galloway, Richard Warth, Jose Luis Lopez-Sendón Moreno, Miguel Angel Moreno-Pelayo,

KCNJ10 encodes the inward-rectifying potassium channel (Kir4.1) that is expressed in the brain, inner ear, and kidney. Loss-of-function mutations in KCNJ10 gene cause a complex syndrome consisting of epilepsy, ataxia, intellectual disability, sensorineural deafness, and tubulopathy (EAST/SeSAME syndrome). Patients with EAST/SeSAME syndrome display renal salt wasting and electrolyte imbalance that ... Read more >>

Neurogenetics (Neurogenetics)
[2020, 21(2):135-143]

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Ototoxicity after platinum-based chemotherapy in the treatment of melanotic neuroectodermal tumour of infancy.

Dorota Hojan-Jezierska, Anna Chomiak, Agata Czopor, Maja Matthews-Kozanecka, Anna Majewska, Marta Urbaniak-Olejnik, Teresa Matthews-Brzozowska,

Melanotic neuroectodermal tumor of infancy (MNTI) is a rare infantile tumor that originates from mesenchymal-neuroectodermal cells, the treatment of which uses platinum derivatives that can affect hearing loss. The present study evaluated the long-term effects of ototoxicity following chemotherapy with cisplatin, vincristine, cyclophosphamide, teniposide and adriamycin in a 10-year-old patient ... Read more >>

(Oncology Letters)
[2020, 19(5):3411-3416]

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Positional Vertigo and Unilateral Gradual Hearing Loss Following Sleeve Gastrectomy: A Case Report.

Mohsen Tabasi, Seyed Alireza Javadinia, Seyed Davar Siadat, Sana Eybpoosh, Mohammad Reza Yazdannasab, Milad Kheirvari, Fezzeh Elyasinia, Saeed Bayanolhagh, Amin Radmanesh, Ahmadreza Soroush,

Laparoscopic sleeve gastrectomy (LSG) is an effective treatment option in patients with morbid obesity, with rare long-term sideeffects. In this report, we present a 42-year-old woman who reported positional vertigo and unilateral gradual hearing loss plus continuous tinnitus after LSG. The patient had no signs or symptoms of mental health ... Read more >>

Diabetes Metab Syndr Obes (Diabetes, metabolic syndrome and obesity : targets and therapy)
[2020, 13:387-390]

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Mutation Spectrum of Stickler Syndrome Type I and Genotype-phenotype Analysis in East Asian Population: a systematic review.

Dan-Dan Wang, Feng-Juan Gao, Fang-Yuan Hu, Sheng-Hai Zhang, Ping Xu, Ji-Hong Wu,

BACKGROUND:Stickler syndrome is the most common genetic cause of rhegmatogenous retinal detachment (RRD) in children, and has a high risk of blindness. Type I (STL1) is the most common subtype, caused by COL2A1 mutations. This study aims to analyze the mutation spectrum of COL2A1 and further elucidate the genotype-phenotype relationships ... Read more >>

BMC Med. Genet. (BMC medical genetics)
[2020, 21(1):27]

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KID Syndrome: A Rare Genodermatosis.

Vivek Kumar Dey, Animesh Saxena, Shrini Parikh,

Indian Dermatol Online J (Indian Dermatology Online Journal)
[2020, 11(1):116-118]

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