Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels
DM Kanavy, SM McNulty, MK Jairath, SE Brnich… - Genome medicine, 2019 - Springer
… efflux in cells expressing the SLC26A4 variant, the VCEP … specific instances of assays
measuring PAH activity cited as … with fluorometric detection [80, 84] or the more sophisticated …
measuring PAH activity cited as … with fluorometric detection [80, 84] or the more sophisticated …
Analysis of intracellular transport and functionality of human kidney anion exchanger 1 (kAE1) in yeast and mammalian cells
SMA Hasib - 2020 - publikationen.sulb.uni-saarland.de
… bicarbonate exchanger named pendrin (SLC26A4) at the … conformation of eAE1 with reduced
transport activity. Moreover, it … trafficking of kAE1 in a fast and inexpensive manner by using …
transport activity. Moreover, it … trafficking of kAE1 in a fast and inexpensive manner by using …
Cellular mechanisms of ion and acid-base transport in aquatic animals
SK Parks - 2009 - era.library.ualberta.ca
I investigated cellular mechanisms of ion and acid-base transport in rainbow trout (Oncorhyncus
mykiss), crabs (Neohelice granulata), zebrafish (Danio rerio), Pacific hagfish (Eptatretus …
mykiss), crabs (Neohelice granulata), zebrafish (Danio rerio), Pacific hagfish (Eptatretus …
Мутации гена SLC26A4 у пациентов с аномалиями внутреннего уха IP-I, IP-II (Mondini) и/или EVA в Якутии
ЛА Кларов, КЮ Николаева… - Медицинская …, 2021 - medgen-journal.ru
… Fast fluorometric method for measuring pendrin (SLC26A4) Cl-/I- transport activity. Cell
Physiol Biochem. 2006;18(1-3… ) Cl-/I- transport activity. Cell Physiol Biochem. 2006;18(1-3):67-74. …
Physiol Biochem. 2006;18(1-3… ) Cl-/I- transport activity. Cell Physiol Biochem. 2006;18(1-3):67-74. …
Molekulare und funktionale Abklärung hereditärer Schwerhörigkeiten am Beispiel des SLC26A4-Gens
S Roesch, E Bernardinelli, S Wortmann… - Laryngo-Rhino …, 2020 - thieme-connect.com
… methods for diagnostic workup on a molecular and functional level for variants of the SLC26A4
… Based on the description of the physiological function of the resulting protein Pendrin, …
… Based on the description of the physiological function of the resulting protein Pendrin, …
[PDF][PDF] SECCIÓN II: CAUSAS DE HIPOTIROIDISMO
C DE HIPOTIROIDISMO - researchgate.net
… Adicionalmente, mutaciones en DUOXA2 (44) y SLC26A4 han sido reportadas como la
base molecular del PIOD. Mutaciones en SLC26A4 causan Síndrome de Pendred, una …
base molecular del PIOD. Mutaciones en SLC26A4 causan Síndrome de Pendred, una …