New autosomal recessive mutations in aquaporin-2 causing nephrogenic diabetes insipidus through deficient targeting display normal expression in Xenopus oocytes

Journal of Physiology

Volumn 588, Issue 12, 2010, Pages 2205-2218

  Leduc Nadeau, Alexandre ^a   Lussier, Yoann ^a   Arthus, Marie Françoise ^b   Lonergan, Michèle ^b   Martinez Aguayo, Alejandro ^c   Riveira Munoz, Eva ^d   Devuyst, Olivier ^d   Bissonnette, Pierre ^a   Bichet, Daniel G ^a,b  

^a UNIVERSITÉ DE MONTRÉAL   (Canada)

^b HÔPITAL DU SACRÉ COEUR DE MONTRÉAL   (Canada)

^c PONTIFICIA UNIVERSIDAD CATÓLICA DE CHILE   (Chile)

^d UNIVERSITY OF LOUVAIN MEDICAL SCHOOL   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

AQUAPORIN 2; FORSKOLIN; VASOPRESSIN; AQP2 PROTEIN, HUMAN; VASOPRESSIN DERIVATIVE; WATER;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; AUTOSOMAL RECESSIVE INHERITANCE; CELL LINE; CELL MEMBRANE; CONTROLLED STUDY; FAMILY; FEMALE; GENE MUTATION; KIDNEY COLLECTING TUBULE; MOUSE; NEPHROGENIC DIABETES INSIPIDUS; NONHUMAN; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FUNCTION; WILD TYPE; XENOPUS; ADULT; AMINO ACID SEQUENCE; ANIMAL; DRUG EFFECTS; GENETIC PREDISPOSITION; GENETIC TRANSFECTION; GENETICS; HUMAN; MALE; METABOLISM; MOLECULAR GENETICS; MUTATION; OOCYTE; PATHOPHYSIOLOGY; PEDIGREE; PROTEIN TRANSPORT; RECESSIVE GENE; XENOPUS LAEVIS; AUTOSOMAL RECESSIVE DISORDER; CELL MEMBRANE PERMEABILITY; CORRELATIONAL STUDY; GENOTYPE; MAMMAL CELL; SIGNAL TRANSDUCTION;

ADULT; AMINO ACID SEQUENCE; ANIMALS; AQUAPORIN 2; CELL LINE; CELL MEMBRANE; DIABETES INSIPIDUS, NEPHROGENIC; FEMALE; FORSKOLIN; GENES, RECESSIVE; GENETIC PREDISPOSITION TO DISEASE; HUMANS; KIDNEY TUBULES, COLLECTING; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; OOCYTES; PEDIGREE; PROTEIN TRANSPORT; TRANSFECTION; VASOPRESSINS; WATER; XENOPUS LAEVIS; COLFORSIN;

EID: 77954487232     PISSN: 00223751     EISSN: 14697793     Source Type: Journal    
DOI: 10.1113/jphysiol.2010.187674     Document Type: Article

References (26)

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