Results 181 to 190 of about 2,252,434 (232)

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

Immunological identification of H+-coupled myo-inositol cotransporter in the lateral wall of the cochlea duct [PDF]

, 2015
Ando, Motonori, Edamatsu, Midori, Inoue, Risa, Yamaji, Mayumi   +3 more
core  

Genetic Hearing Impairment. Clinical and Genetic Aspects in Bor-Syndrome. Pendred syndrome and DFNB1.

, 2004
C. Stinckens
openalex   +1 more source

Prevalence of pendrin defects in sudanese families with congenital hypothyroidism. [PDF]

Endocrine
Islam MS, Dumitrescu AM, Ahmed A, Refetoff S, Weiss RE.   +4 more
europepmc   +1 more source

Update on diagnostic procedures in third window syndromes. [PDF]

HNO
Dlugaiczyk J, Rösch S, Mantokoudis G.
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

Comparative genomic profiling of SLC26A4-expressing cells in the inner ear and other organs. [PDF]

PLoS One
Honda K, Kajino A, Tsutsumi T.
europepmc   +1 more source

Parent-child interaction and early pragmatic, auditory and linguistic abilities in deaf children. [PDF]

Acta Otorhinolaryngol Ital
Zagari F, Mari G, Di Cesare T, Picciotti PM, Longobardi Y, Rodolico D, D'Alatri L.   +6 more
europepmc   +1 more source

Assessing the Functional Significance of Novel and Rare Variants of the <i>SLC26A4</i> Gene Found in Patients with Hearing Loss by Minigene Assay. [PDF]

Int J Mol Sci
Danilchenko VY, Panina EA, Zytzar MV, Orishchenko KE, Posukh OL.   +4 more
europepmc   +1 more source

Analysis of deafness gene screening results in 15771 newborn cases in Anyang city of Henan. [PDF]

Front Pediatr
Mu Y, Han M, Li Y, Di H, Li Z, Li H, Wang D, Li X, Zhang L, An H.   +9 more
europepmc   +1 more source