Thick airway surface liquid volume and weak mucin expression in pendrin-deficient human airway epithelia. [PDF]
, 2015 Pendrin is an anion exchanger whose mutations are known to cause hearing loss. However, recent data support the linkage between pendrin expression and airway diseases, such as asthma.
강주완 +5 more
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Study of the association of DFNB3 locus with autosomal recessive non-syndromic hearing loss in iranian deaf population using genetic linkage analysis [PDF]
, 2014 Background: Hearing loss is a common sensory disorder that typically illustrates genetic heterogeneity in human populations. The incidence of congenital hearing loss is estimated at 1 in 500 births of which approximately 70 of cases are attributed to ...
Ataiee, Mitra. +8 more
core
Hearing loss: A review on molecular genetics and epidemiologic aspects [PDF]
, 2017 Background and aims: Hearing loss (HL) happens due to the genetic or environmental causes or both. Risk factors include congenital infections and congenital deformities of auricle and ear duct.
Aghaei, Shahrzad. +5 more
core
Genetic Basis of Hearing Loss [PDF]
, 2018 Etiology of hearing impairment (HI) is complex and comprises genetic and environmental factors. Currently, the background of genetic hearing impairment is an area of intensive research and we are witnessing fast progress in this field.
Ołdak, Monika, Pollak, Agnieszka
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Journal of Rehabilitation, 2005 The incidence of profound congenital hearing loss is about 1 in 1,000 live birth. There are more than 50 distinct genetic loci (known as DFNB loci) at which mutations can cause recessive hearing loss. DFNB4, one recessive locus for deafness, also maps to
Hossein Najm-Abadi +5 more
doaj
Familienuntersuchung zur Identifizierung einer Kandidatengenregion für eine autosomal-dominante, nicht-syndromale Form einer Mittel- bis Tieftonschwerhörigkeit [PDF]
, 2004 Die Beeinträchtigung des von Schwerhörigkeit betroffenen Menschen ist abhängig vom Schweregrad der Erkrankung sowie vom Alter des Einsetzens der Symptome.
Brodwolf, Susanne Katharina +1 more
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Acidosis and Deafness in Patients with Recessive Mutations in FOXI1 [PDF]
, 2018 Maintenance of the composition of inner ear fluid and regulation of electrolytes and acid-base homeostasis in the collecting duct system of the kidney require an overlapping set of membrane transport proteins regulated by the forkhead transcription ...
Alkanderi, S +17 more
core
Hormonal effect on the inner ear : two endocrine syndromes [PDF]
, 2017 Hearing loss is a major problem in our society with more than 5 % of the population world-wide suffering from disabling hearing loss according to the WHO. There are many endocrine syndromes associated with hearing loss.
Bonnard, Åsa
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Strategies for genetic study of hearing loss in the \ud Brazilian northeastern region [PDF]
The overall aim of this study was to estimate the contribution of genetic factors to the etiology of hearing loss (HL) in two counties in the Brazilian northeastern region.
Andrade, Wagner T. +6 more
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Jorjani Biomedicine Journal, 2014 Background & Objective: Deafness is the most common sensory disorder in humans which is highly heterogeneous. Among its various types, autosomal recessive non-syndromic hearing loss (ARNSHL) is responsible for 80% of pre-speech congenital cases of hearing loss.
Najmeh Ahangari +3 more
openaire +1 more source