Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype

Journal of the American Society of Nephrology

Volumn 24, Issue 6, 2013, Pages 967-977

  Hurd, Toby W ^a   Otto, Edgar A ^b   Mishima, Eikan ^d   Gee, Heon Yung ^b   Inoue, Hana ^e   Inazu, Masato ^e   Yamada, Hideomi ^f   Halbritter, Jan ^b   Seki, George ^f   Konishi, Masato ^e   Zhou, Weibin ^b   Yamane, Tsutomo ^g   Murakami, Satoshi ^h   Caridi, Gianluca ⁱ   Ghiggeri, Gianmarco ⁱ   Abe, Takaaki ^d,j   Hildebrandt, Friedhelm ^b,c  

^a UNIVERSITY OF EDINBURGH   (United Kingdom)

^b UNIVERSITY OF MICHIGAN MEDICAL SCHOOL   (United States)

^c UNIVERSITY OF MICHIGAN   (United States)

^d TOHOKU UNIVERSITY GRADUATE SCHOOL OF MEDICINE   (Japan)

^e TOKYO MEDICAL UNIVERSITY   (Japan)

^f UNIVERSITY OF TOKYO   (Japan)

^g YOKOHAMA CITY UNIVERSITY   (Japan)

^h TOKYO INSTITUTE OF TECHNOLOGY   (Japan)

ⁱ G GASLINI INSTITUTE   (Italy)

^j TOHOKU UNIVERSITY   (Japan)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CARRIER PROTEIN; MAGNESIUM ION; SLC41A1 PROTEIN; UNCLASSIFIED DRUG; CATION TRANSPORT PROTEIN; MAGNESIUM; MEMBRANE PROTEIN; SLC41A1 PROTEIN, HUMAN; SLC41A1 PROTEIN, ZEBRAFISH; ZEBRAFISH PROTEIN;

ARTICLE; CASE REPORT; EXON; GENE DELETION; GENE MUTATION; GENETIC TRANSFECTION; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; KIDNEY PARENCHYMA; KIDNEY TUBULE; NEPHRONOPHTHISIS; NONHUMAN; PHENOTYPE; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN LOCALIZATION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; WILD TYPE; ZEBRA FISH; ANIMAL; CELL STRAIN HEK293; CHILD; DOG; FEMALE; GENETICS; HETEROZYGOTE; HOMOZYGOTE; KIDNEY; KIDNEY POLYCYSTIC DISEASE; MALE; MDCK CELL; METABOLISM; MISSENSE MUTATION; PATHOLOGY; PEDIGREE; PRESCHOOL CHILD; RECESSIVE GENE;

ANIMALS; CATION TRANSPORT PROTEINS; CHILD; CHILD, PRESCHOOL; DOGS; EXONS; FEMALE; GENES, RECESSIVE; HEK293 CELLS; HETEROZYGOTE; HOMOZYGOTE; HUMANS; KIDNEY; KIDNEY DISEASES, CYSTIC; MADIN DARBY CANINE KIDNEY CELLS; MAGNESIUM; MALE; MEMBRANE PROTEINS; MUTATION, MISSENSE; PEDIGREE; ZEBRAFISH; ZEBRAFISH PROTEINS;

MLCS; MLOWN;

EID: 84878699488     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2012101034     Document Type: Article

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