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Review: Hearing Loss Genetics

• Authors : Hossein Najm-Abadi; Kimia Kahrizi

Subjects: Syndromic hearing loss; Non-syndromic hearing loss; Hereditary hearing impaired mutation

• Source: Journal of Rehabilitation, Vol 6, Iss 1, Pp 48-56 (2005)

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Structural Insights into Hearing Loss Genetics from Polarizable Protein Repacking

• Authors : Tollefson, Mallory R.; Litman, Jacob M.; Qi, Guowei ...

• Source: Biophysical Journal ; volume 117, issue 3, page 602-612 ; ISSN 0006-3495

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Overlooked KCNQ4 variants augment the risk of hearing loss

• Authors : Kyung Seok Oh; Jae Won Roh; Sun Young Joo

Subjects: Deafness* / genetics; Hearing; Hearing Loss* / genetics

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Microtubule-associated protein 1 A and tubby act independently in regulating the localization of stereocilin to the tips of inner ear hair cell stereocilia

• Authors : Song Yi Youn; Hyehyun Min; Se Rok Jeong

Subjects: Adaptor Proteins; Signal Transducing; Animals

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Therapeutic effect of NLRP3 inhibition on hearing loss induced by systemic inflammation in a CAPS-associated mouse model

• Authors : Ji-Hyun Ma; Eunju Lee; Sung-Hyun Yoon

Subjects: Animals; Cryopyrin-Associated Periodic Syndromes* / etiology; Cryopyrin-Associated Periodic Syndromes* / genetics

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COCH-related autosomal dominant nonsyndromic hearing loss: a phenotype-genotype study

• Authors : Kyung Seok Oh; Daniel Walls; Sun Young Joo

Subjects: Arthrogryposis; Deafness* / genetics; Extracellular Matrix Proteins / genetics

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Differential genetic diagnoses of adult post-lingual hearing loss according to the audiogram pattern and novel candidate gene evaluation

• Authors : John Hoon Rim; Byunghwa Noh; Young Ik Koh

Subjects: Adult; Hearing Loss* / diagnosis; Hearing Loss* / genetics

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Effect of Cochlear Implantation on Hearing Fluctuation in Patients with Biallelic SLC26A4 Variants

• Authors : Gina Na; Jeon Mi Lee; Hyun Jin Lee

Subjects: Adolescent; Audiometry; Pure-Tone

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Sodium bicarbonate cotransporter NBCn1/Slc4a7 affects locomotor activity and hearing in mice

• Authors : Choi, Inyeong; Beedholm, Kristian; Dam, Vibeke Secher

Subjects: Acid base transporter; Hearing; Knockout mice

• Source: Choi , I , Beedholm , K , Dam , V S , Bae , S-H , Noble , D J , Garraway , S M , Aalkjær , C & Boedtkjer , E 2021 , ' Sodium bicarbonate cotransporter NBCn1/Slc4a7 affects locomotor activity and

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Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.

• Authors : Ascari, G.; Peelman, F.; Farinelli, P.

Subjects: Adolescent; Alleles; Cell Cycle Proteins/chemistry

• Source: Human mutation, vol. 41, no. 5, pp. 998-1011

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