Results 161 to 170 of about 8,863 (195)

Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome

Digenic inheritance of mutations in EPHA2 and SLC26A4 in Pendred syndrome
Enlarged vestibular aqueduct (EVA) is one of the most commonly identified inner ear malformations in hearing loss patients including Pendred syndrome. While biallelic mutations of the SLC26A4 gene, encoding pendrin, causes non-syndromic hearing loss with EVA or Pendred syndrome, a considerable number of patients appear to carry mono-allelic mutation ...
openaire  

Recurrent and Novel Pathogenic Variants in Genes Involved with Hearing Loss in the Pakistani Population. [PDF]

Mol Diagn Ther
Shadab M, Ben-Mahmoud A, Martínez Völter LN, Abbasi AA, Ku B, Ejaz A, Latif Z, Gupta V, Owrang D, Jang MH, Zhang Z, Mohammad R, Houlden H, Kim HG, Vona B.   +14 more
europepmc   +1 more source

Research hotspots and trends of the <i>SLC26A4</i> gene-related hearing loss from the perspective of knowledge graph. [PDF]

Intractable Rare Dis Res
Li Y, Wen C, Yu Y, Deng L, Gao S, Huang L.   +5 more
europepmc   +1 more source

Comparison of Lung Inflammatory and Transcriptional Responses in Mice and Rats Following Pulmonary Exposure to a Fiber Paradigm-Compatible and Non-Compatible MWCNT. [PDF]

Nanomaterials (Basel)
Saarimäki LA, Danielsen PH, Knudsen KB, Poulsen SS, Halappanavar S, Wolff H, Kinaret PAS, Greco D, Vogel U.   +8 more
europepmc   +1 more source

Variation spectra in mild isolated hyperthyrotropinemia: pilot cohort and systematic review. [PDF]

Front Endocrinol (Lausanne)
Ricci V, Masnata ME, Villanueva Gonzalez MD, Enacán RE, Izquierdo A, Adrover E, Esnaola Azcoiti M, Sansó G, Scaglia PA, Rivolta CM, Targovnik HM, Rey RA, Ropelato MG, Chiesa AE, Nicola JP, Tellechea ML.   +15 more
europepmc   +1 more source

Inhibitors of the ubiquitin‑proteasome system rescue cellular levels and ion transport function of pathogenic pendrin (SLC26A4) protein variants. [PDF]

Int J Mol Med
Bernardinelli E, Jamontas R, Matulevičius A, Huber F, Nasser H, Klaus S, Zhu H, Gao J, Dossena S.   +8 more
europepmc   +1 more source

Genetic Defects in Thyroid Hormone Supply. [PDF]

, 2014
FENZI, GIANFRANCO, MACCHIA, PAOLO EMIDIO, NETTORE, IMMACOLATA CRISTINA   +2 more
core  

Transcriptomic landscape of hyperthyroidism in mice overexpressing thyroid-stimulating hormone. [PDF]

iScience
Yamauchi I, Sugawa T, Hakata T, Yoshizawa A, Kita T, Kishimoto Y, Kimura S, Sakurai A, Kosugi D, Fujita H, Okamoto K, Ueda Y, Fujii T, Taura D, Sakane Y, Yasoda A, Inagaki N.   +16 more
europepmc   +1 more source

Saliva Sample-Based Non-Invasive Carrier Screening for Spinal Muscular Atrophy, Hereditary Hearing Loss, and Thalassemia in 13,926 Women of Reproductive Age From South Zhejiang. [PDF]

Mol Genet Genomic Med
Xu C, Xiang Y, Lin X, Ma Q, Xu Y, Li H, Tang S, Xu X.   +7 more
europepmc   +1 more source

Genetic and audiological determinants of hearing loss in high-risk neonates. [PDF]

Braz J Otorhinolaryngol
Shi Y, Zhang N, Du N, Zheng T, Yu Y, Li Y.   +5 more
europepmc   +1 more source