A Novel Claudin 16 Mutation Associated with Childhood Hypercalciuria Abolishes Binding to ZO-1 and Results in Lysosomal Mistargeting

American Journal of Human Genetics

Volumn 73, Issue 6, 2003, Pages 1293-1301

  Müller, Dominik ^a   Kausalya, P Jaya ^b   Claverie Martin, Felix ^c   Meij, Iwan C ^d   Eggert, Paul ^e   Garcia Nieto, Victor ^c   Hunziker, Walter ^b  

^a CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^b INSTITUTE OF MOLECULAR AND CELL BIOLOGY   (Singapore)

^c HOSPITAL UNIVERSITARIO NUESTRA SEÑORA DE CANDELARIA   (Spain)

^d RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^e UNIVERSITY HOSPITAL SCHLESWIG HOLSTEIN   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

CALCIUM ION; CLAUDIN; CLAUDIN 16; MAGNESIUM ION; PDZ PROTEIN; PROTEIN ZO1; UNCLASSIFIED DRUG;

ANIMAL CELL; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BINDING SITE; CALCIUM EXCRETION; CHILD; CHILDHOOD DISEASE; CHRONIC KIDNEY FAILURE; CLAUDIN 16 GENE; CLINICAL ARTICLE; COHORT ANALYSIS; CONTROLLED STUDY; FAMILIAL DISEASE; FAMILY; FEMALE; GENE; GENE MUTATION; GENETIC SCREENING; GLOMERULUS FILTRATION RATE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HUMAN CELL; HYPERCALCIURIA; HYPOMAGNESEMIA; IDIOPATHIC HYPERCALCIURIA; KIDNEY CALCIFICATION; KIDNEY EPITHELIUM; LYSOSOME; MAGNESIUM EXCRETION; MALE; MOLECULAR MECHANICS; NEPHROLITHIASIS; NONHUMAN; NUCLEOTIDE SEQUENCE; PHENOTYPE; PRIORITY JOURNAL; PROGNOSIS; PROTEIN BINDING; PROTEIN LOCALIZATION; PROTEIN MOTIF; TIGHT JUNCTION;

ANIMALIA; GLOMERULUS;

EID: 17544399838     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/380418     Document Type: Article

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