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1.
A Founder Mutation in EHD1 Presents with Tubular Proteinuria and Deafness.
J Am Soc Nephrol
; 33(4): 732-745, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35149593
2.
Genetic variants in eleven central and peripheral chemoreceptor genes in sudden infant death syndrome.
Pediatr Res
; 92(4): 1026-1033, 2022 10.
Article
in English
| MEDLINE | ID: mdl-35102300
3.
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
J Am Soc Nephrol
; 32(6): 1498-1512, 2021 06 01.
Article
in English
| MEDLINE | ID: mdl-33811157
4.
Novel mutations in the KCNJ10 gene associated to a distinctive ataxia, sensorineural hearing loss and spasticity clinical phenotype.
Neurogenetics
; 21(2): 135-143, 2020 04.
Article
in English
| MEDLINE | ID: mdl-32062759
5.
Collecting system-specific deletion of Kcnj10 predisposes for thiazide- and low-potassium diet-induced hypokalemia.
Kidney Int
; 97(6): 1208-1218, 2020 06.
Article
in English
| MEDLINE | ID: mdl-32299681
6.
Dynamic NHERF interaction with TRPC4/5 proteins is required for channel gating by diacylglycerol.
Proc Natl Acad Sci U S A
; 114(1): E37-E46, 2017 01 03.
Article
in English
| MEDLINE | ID: mdl-27994151
7.
Podocyte Purinergic P2X4 Channels Are Mechanotransducers That Mediate Cytoskeletal Disorganization.
J Am Soc Nephrol
; 27(3): 848-62, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26160898
8.
Novel role of mechanosensitive AT1B receptors in myogenic vasoconstriction.
Pflugers Arch
; 466(7): 1343-53, 2014 Jul.
Article
in English
| MEDLINE | ID: mdl-24101294
9.
Transient receptor potential channel 1 (TRPC1) reduces calcium permeability in heteromeric channel complexes.
J Biol Chem
; 287(5): 3530-40, 2012 Jan 27.
Article
in English
| MEDLINE | ID: mdl-22157757
10.
EAST/SeSAME Syndrome and Beyond: The Spectrum of Kir4.1- and Kir5.1-Associated Channelopathies.
Front Physiol
; 13: 852674, 2022.
Article
in English
| MEDLINE | ID: mdl-35370765
11.
Functional analysis of the Kv1.1 N255D mutation associated with autosomal dominant hypomagnesemia.
J Biol Chem
; 285(1): 171-8, 2010 Jan 01.
Article
in English
| MEDLINE | ID: mdl-19903818
12.
Distinct Mitochondrial Pathologies Caused by Mutations of the Proximal Tubular Enzymes EHHADH and GATM.
Front Physiol
; 12: 715485, 2021.
Article
in English
| MEDLINE | ID: mdl-34349672
13.
Enzymatic disease of the podocyte.
Pediatr Nephrol
; 25(6): 1017-23, 2010 Jun.
Article
in English
| MEDLINE | ID: mdl-20130922
14.
CD2AP in mouse and human podocytes controls a proteolytic program that regulates cytoskeletal structure and cellular survival.
J Clin Invest
; 121(10): 3965-80, 2011 Oct.
Article
in English
| MEDLINE | ID: mdl-21911934
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