Zebrafish Model for Nonsyndromic X‐Linked Sensorineural Deafness, DFNX1
نویسندگان
چکیده
منابع مشابه
Generation and validation of a zebrafish model of EAST (epilepsy, ataxia, sensorineural deafness and tubulopathy) syndrome
Recessive mutations in KCNJ10, which encodes an inwardly rectifying potassium channel, were recently identified as the cause of EAST syndrome, a severe and disabling multi-organ disorder consisting of epilepsy, ataxia, sensorineural deafness and tubulopathy that becomes clinically apparent with seizures in infancy. A Kcnj10 knockout mouse shows postnatal mortality and is therefore not suitable ...
متن کاملStudy of six mutations in the gjb2 gene in Cuban patients with nonsyndromic sensorineural deafness
Deafness is a partial or total hearing loss that can appear at any ages and with different degrees of severity. About 50% of hearing disorders have a genetic origin, and among them, the nonsyndromic sensorineural deafness represents 70% of the cases. Out of these, the 80% correspond to autosomal recessive inheritance deafness. Autosomal recessive deafness has not been characterized enough at mo...
متن کاملScreening for sensorineural deafness by health visitors
Screening for hearing loss in the first year of life, using the distraction test, remains the responsibility of health visitors in most health districts in the United Kingdom. We have evaluated the screening procedure used routinely in one health region in a population of infants at increased risk of sensorineural deafness. They were infants who weighed less than 2000 g at birth or infants who ...
متن کاملMYO1F as a candidate gene for nonsyndromic deafness, DFNB15.
BACKGROUND Earlier studies have mapped the autosomal recessive nonsyndromic deafness locus, DFNB15, to chromosomes 3q21.3-q25.2 and 19p13.3-13.1, identifying one of these chromosomal regions (or possibly both) as the site of a deafness-causing gene. Mutations in unconventional myosins cause deafness in mice and humans. One unconventional myosin, myosin 1F (MYO1F), is expressed in the cochlea an...
متن کاملMalignant thymoma presenting as sensorineural deafness.
autoimmune disorders, most notably myasthenia gravis (MG) which is seen in up to 40% of cases.1,2 There are also a number of other less common autoimmune disorders associated with thymoma, including hyperexcitability syndromes,3 myositis,1 encephalitis,4 autonomic dysfunction,5 and lupus.6 In 2004 Vernino and Lennon7 reported autoimmune sensorineural hearing loss (SNHL) in two patients from the...
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ژورنال
عنوان ژورنال: The Anatomical Record
سال: 2019
ISSN: 1932-8486,1932-8494
DOI: 10.1002/ar.24115