Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome

American Journal of Human Genetics

Volumn 97, Issue 4, 2015, Pages 555-566

  Miyake, Noriko ^a   Tsukaguchi, Hiroyasu ^b   Koshimizu, Eriko ^a   Shono, Akemi ^c   Matsunaga, Satoko ^a   Shiina, Masaaki ^a   Mimura, Yasuhiro ^d   Imamura, Shintaro ^e   Hirose, Tomonori ^a   Okudela, Koji ^a   Nozu, Kandai ^c   Akioka, Yuko ^f   Hattori, Motoshi ^f   Yoshikawa, Norishige ^g   Kitamura, Akiko ^h   Cheong, Hae Il ^i,j,k   Kagami, Shoji ^h   Yamashita, Michiaki ^e   Fujita, Atsushi ^a   Miyatake, Satoko ^a   Tsurusaki, Yoshinori ^a   Nakashima, Mitsuko ^a   Saitsu, Hirotomo ^a   Ohashi, Kenichi ^a   Imamoto, Naoko ^d   Ryo, Akihide ^a   Ogata, Kazuhiro ^a   Iijima, Kazumoto ^c   Matsumoto, Naomichi ^a   more..

^a YOKOHAMA CITY UNIVERSITY   (Japan)

^b KANSAI MEDICAL UNIVERSITY   (Japan)

^c KOBE UNIVERSITY   (Japan)

^d RIKEN   (Japan)

^e FISHERIES RESEARCH AGENCY   (Japan)

^f TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^g NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

^h UNIVERSITY OF TOKUSHIMA   (Japan)

ⁱ Seoul National University Children's Hospital   (South Korea)

^j Seoul National University Hospital   (South Korea)

^k Seoul National University   (South Korea)

more..

Author keywords

[No Author keywords available]

Indexed keywords

MORPHOLINO OLIGONUCLEOTIDE; ANTISENSE OLIGONUCLEOTIDE; MESSENGER RNA; NUCLEOPORIN; NUP107 PROTEIN, HUMAN; NUP107 PROTEIN, ZEBRAFISH; ZEBRAFISH PROTEIN;

ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTICLE; BINDING AFFINITY; CELL DIFFERENTIATION; CELL REGENERATION; CHILD; CLINICAL ARTICLE; CONGENITAL NEPHROTIC SYNDROME; END STAGE RENAL DISEASE; FOCAL GLOMERULOSCLEROSIS; GENE; GENE EXPRESSION; GENE FUNCTION; GENE MUTATION; GENE SEQUENCE; HAPLOTYPE; HISTOPATHOLOGY; HUMAN; HUMAN CELL; HUMAN TISSUE; LYMPHOBLASTOID CELL; NONHUMAN; NUCLEAR PORE COMPLEX; NUCLEOPORIN 107 GENE; NUCLEOPORIN 133 GENE; PODOCYTE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN BINDING; SCHOOL CHILD; ZEBRA FISH; ALLELE; ANIMAL; ANTAGONISTS AND INHIBITORS; CELL CULTURE; CYTOPLASM; FEMALE; FLUORESCENCE MICROSCOPY; GENETICS; GROWTH, DEVELOPMENT AND AGING; IMMUNOBLOTTING; IMMUNOPRECIPITATION; INFANT; KIDNEY; MALE; METABOLISM; MUTATION; NEPHROTIC SYNDROME; NUCLEAR PORE; ONSET AGE; PATHOLOGY; PEDIGREE; REAL TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION;

AGE OF ONSET; ALLELES; ANIMALS; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; CYTOPLASM; FEMALE; HAPLOTYPES; HUMANS; IMMUNOBLOTTING; IMMUNOPRECIPITATION; INFANT; KIDNEY; MALE; MICROSCOPY, FLUORESCENCE; MUTATION; NEPHROTIC SYNDROME; NUCLEAR PORE; NUCLEAR PORE COMPLEX PROTEINS; OLIGORIBONUCLEOTIDES, ANTISENSE; PEDIGREE; PODOCYTES; REAL-TIME POLYMERASE CHAIN REACTION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA, MESSENGER; ZEBRAFISH; ZEBRAFISH PROTEINS;

EID: 84952719536     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.08.013     Document Type: Article

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