KCNJ10 mutations display differential sensitivity to heteromerisation with KCNJ16

Nephron - Physiology

Volumn 123, Issue 3-4, 2013, Pages 7-14

  Parrock, Sophie ^a   Hussain, Sofia ^a,d   Issler, Naomi ^a,b   Differ, Ann Marie ^c   Lench, Nicholas ^c   Guarino, Stefano ^e   Oosterveld, Michiel J S ^f   Keijzer Veen, Mandy ^g   Brilstra, Eva ^g   Van Wieringen, Hester ^h   Konijnenberg, A Yvette ^g   Amin Rasip, Sarah ^a   Dumitriu, Simona ^a,i   Klootwijk, Enriko ^a   Knoers, Nine ^g   Bockenhauer, Detlef ^a,b,c   Kleta, Robert ^a,b,c   Zdebik, Anselm A ^a  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE LONDON   (United Kingdom)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d QUAID I AZAM UNIVERSITY   (Pakistan)

^e SECOND UNIVERSITY OF NAPLES   (Italy)

^f EMMA CHILDREN S HOSPITAL   (Netherlands)

^g UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^h ST ANTONIUS HOSPITAL   (Netherlands)

ⁱ VICTOR BABES UNIVERSITY OF MEDICINE AND PHARMACY   (Romania)

Author keywords

EAST syndrome; Gitelman syndrome; Inward rectifier; KCNJ10; Kidney; Kir4.1; Potassium channel; SeSAME; Tubulopathy

Indexed keywords

ANIMAL CELL; ANIMAL TISSUE; ARTICLE; ATAXIA; CONTROLLED STUDY; DNA SEQUENCE; EAST SYNDROME; EPILEPSY; FEMALE; FUNCTIONAL DISEASE; GENE EXPRESSION; GENE MUTATION; GENETIC CODE; HETEROLOGOUS EXPRESSION; HUMAN; KCNJ10 GENE; KCNJ16 GENE; KIDNEY TUBULE DISORDER; NONHUMAN; OOCYTE; PERCEPTION DEAFNESS; PRIORITY JOURNAL; XENOPUS; AUTOSOMAL RECESSIVE DISORDER; CHEMICAL REACTION; ELECTRIC POTENTIAL; ELECTRODE; EPILEPSY ATAXIA SENSORINEURAL DEAFNESS AND TUBULOPATHY; GENE AMPLIFICATION; GENOTYPE; HETEROMERIZATION; HOMOZYGOTE; WESTERN BLOTTING;

BARIUM ION; DNA; POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNJ10; POTASSIUM CHANNEL KCNJ16; UNCLASSIFIED DRUG;

ALANINE; ANIMALS; FEMALE; GENOTYPE; HEARING LOSS, SENSORINEURAL; HUMANS; INTELLECTUAL DISABILITY; OOCYTES; PATCH-CLAMP TECHNIQUES; POINT MUTATION; POTASSIUM CHANNELS, INWARDLY RECTIFYING; PROTEIN MULTIMERIZATION; SEIZURES; SEQUENCE ANALYSIS, DNA; VALINE; XENOPUS;

EID: 84886741047     PISSN: None     EISSN: 16602137     Source Type: Journal    
DOI: 10.1159/000356353     Document Type: Article

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