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1.
Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease.
J Biol Chem
; : 107437, 2024 Jun 03.
Article
in English
| MEDLINE | ID: mdl-38838776
2.
Unique variants in CLCN3, encoding an endosomal anion/proton exchanger, underlie a spectrum of neurodevelopmental disorders.
Am J Hum Genet
; 108(8): 1450-1465, 2021 08 05.
Article
in English
| MEDLINE | ID: mdl-34186028
3.
A Recurrent Gain-of-Function Mutation in CLCN6, Encoding the ClC-6 Cl-/H+-Exchanger, Causes Early-Onset Neurodegeneration.
Am J Hum Genet
; 107(6): 1062-1077, 2020 12 03.
Article
in English
| MEDLINE | ID: mdl-33217309
4.
LRRC8 N termini influence pore properties and gating of volume-regulated anion channels (VRACs).
J Biol Chem
; 293(35): 13440-13451, 2018 08 31.
Article
in English
| MEDLINE | ID: mdl-29925591
5.
KCNQ5 Controls Perivascular Adipose Tissue-Mediated Vasodilation.
Hypertension
; 81(3): 561-571, 2024 Mar.
Article
in English
| MEDLINE | ID: mdl-38354270
6.
Structural insights into anion selectivity and activation mechanism of LRRC8 volume-regulated anion channels.
Cell Rep
; 42(8): 112926, 2023 08 29.
Article
in English
| MEDLINE | ID: mdl-37543949
7.
Molecular basis of ClC-6 function and its impairment in human disease.
Sci Adv
; 9(41): eadg4479, 2023 10 13.
Article
in English
| MEDLINE | ID: mdl-37831762
8.
Gating choreography and mechanism of the human proton-activated chloride channel ASOR.
Sci Adv
; 8(5): eabm3942, 2022 Feb 04.
Article
in English
| MEDLINE | ID: mdl-35108041
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