Results 131 to 140 of about 2,665 (161)

Novel genetic determinants contribute to hearing loss in a central European cohort with enlarged vestibular aqueduct. [PDF]

Mol Med
Bernardinelli E, Liuni R, Jamontas R, Tesolin P, Morgan A, Girotto G, Roesch S, Dossena S.   +7 more
europepmc   +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

Cystic fibrosis-related kidney disease-emerging morbidity and disease modifier. [PDF]

Pediatr Nephrol
Hart M, Kumar M, Goswami HB, Harris WT, Skopelja-Gardner S, Swiatecka-Urban A.   +5 more
europepmc   +1 more source

The ZBTB16/CUL3/ROC1 ubiquitin ligase drives the degradation of pathogenic pendrin (SLC26A4) protein variants. [PDF]

J Biomed Sci
Huber F, Bernardinelli E, Haddad BG, Klaus S, Weitgasser L, Roesch S, Jakab M, Konrat R, Machtens JP, Eladari D, Dossena S.   +10 more
europepmc   +1 more source

Structural basis for substrate recognition mechanism of human SLC26A7. [PDF]

Nat Commun
Li X, Yang X, Lu X, Lin B, Zhang Y, Huang B, Zhou Y, Huang J, Wu K, Zhou Q, Chi X.   +10 more
europepmc   +1 more source

Deep Phenotyping of a Mouse Model for Hearing Instability Disorders. [PDF]

Otol Neurotol
Johns JD, Adadey SM, Strepay D, Olszewski R, Hoa M.   +4 more
europepmc   +1 more source

Loop Diuretic Dose Intensification versus Adjuvant Thiazide for Diuretic Resistance in Acute Heart Failure: Mechanistic Randomized Controlled Trial. [PDF]

J Am Soc Nephrol
Rao VS, Cox ZL, Ivey-Miranda JB, Moreno-Villagomez J, Ramos-Mastache D, Maulion C, Bellumkonda L, Turner J, Turner J, Wilson FP, Shilpak MG, Estrella MM, Welling P, Wilcox CS, Ellison DH, Forbush B, Testani JM.   +16 more
europepmc   +1 more source

Urinary sodium wasting and disrupted collecting duct function in mice with distal renal tubular acidosis mutations. [PDF]

Dis Model Mech
Mungara P, MacNaughton K, Ullah AKMS, Essuman G, Chelangarimiyandoab F, Mumtaz R, Hennings JC, Hübner CA, Eladari D, Alexander RT, Cordat E.   +10 more
europepmc   +1 more source

Determining Causality in Gene Discovery: A Nephrologist's Perspective with Insights from ATP6V0A4. [PDF]

J Am Soc Nephrol
Alsubaie H, Gandhi K, Lemaire M.
europepmc   +1 more source

Common genetic etiologies of sensorineural hearing loss in Koreans. [PDF]

Genomics Inform
Jang SH, Yoon K, Gee HY.
europepmc   +1 more source