Results 111 to 120 of about 2,252,434 (232)
American Journal of Medical Genetics Part A, Volume 194, Issue 5, May 2024.Abstract MPZL2‐related hearing loss is a rare form of autosomal recessive hearing loss characterized by progressive, mild sloping to severe sensorineural hearing loss. Thirty‐five previously reported patients had biallelic truncating variants in MPZL2, with the exception of one patient with a missense variant of uncertain significance and a truncating ...
Emma Lo +14 more
wiley +1 more source
Genetic Hearing Loss Associated With Autoinflammation
Frontiers in Neurology, 2020 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 ...
Hiroshi Nakanishi +10 more
doaj +1 more source
The Study of SLC26A4 Gene Causing Autosomal Recessive Hearing Loss by Linkage Analysis in a Cohort of Iranian Populations. [PDF]
, 2014 Sensorineural non-syndromic hearing loss is the most common disorder which affects 1 in 500 newborns. Hearing loss is an extremely heterogeneous defect with more than 100 loci identified to date.
Ahmadian, Shahla. +9 more
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Autosomal recessive non‐syndromic hearing loss genes in Pakistan during the previous three decades
Journal of Cellular and Molecular Medicine, Volume 28, Issue 8, April 2024.Abstract Hearing loss is a clinically and genetically heterogeneous disorder, with over 148 genes and 170 loci associated with its pathogenesis. The spectrum and frequency of causal variants vary across different genetic ancestries and are more prevalent in populations that practice consanguineous marriages.
Madiha Shadab +6 more
wiley +1 more source
Prestin and the good vibrations [PDF]
, 2016 In a recent paper published in the Biochemical Journal (1), Lolli and collaborators presented evidence that the C-terminal STAS domain of the motor protein prestin possesses an anion-binding site.
Birke, Anna, Javelle, Arnaud
core +1 more source
Molecular Genetics &Genomic Medicine, Volume 12, Issue 2, February 2024.pc‐MINI vector detection results. (A) Construction of the pcMINI‐SLC26A4‐wt/mut vector harboring exon6 and flanking intronic sequences from WT or Mut types (c.765+4A>G) of the SCL26A4 gene. (B) Minigene construction sequencing map, Wt on top and Mut on bottom; (C) RT‐PCR products were separated by electrophoresis of the pcMINI‐SLC26A4‐wt/mut vector in ...
Suyang Wang +8 more
wiley +1 more source
Genotyping Data and Novel Haplotype Diversity of STR Markers in the SLC26A4 Gene Region in Five Ethnic Groups of the Iranian Population [PDF]
, 2014 Background and Aims: SLC26A4 gene mutations are the second currently identifiable genetic cause of autosomal recessive nonsyndromic hearing loss after GJB2 mutations.
Hashemzadeh-Chaleshtori, Morteza. +3 more
core +1 more source
Enlarged vestibular aqueduct in cochlear implant patients [PDF]
, 2009 Vidgad vestibularakvedukt (EVA) är en inneröremissbildning och en vanlig orsak till ärftlig hörselnedsättning. Hörselnedsättningen är ofta av kombinerad typ och orsaken till den konduktiva komponenten antas ligga i innerörat. EVA diagnostiseras med hjälp
Hatt, Sanne, Öinert, Adam
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Stimulation from Cochlear Implant Electrodes Assists with Recovery from Asymmetric Perceptual Tilt: Evidence from the Subjective Visual Vertical Test [PDF]
, 2016 Vestibular end organ impairment is highly prevalent in children who have sensorineural hearing loss (SNHL) rehabilitated with cochlear implants (CIs). As a result, spatial perception is likely to be impacted in this population.
Blake C. Papsin +5 more
core +1 more source
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
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