Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome

Nature Genetics

Volumn 48, Issue 4, 2016, Pages 457-465

  Braun, Daniela A ^a   Sadowski, Carolin E ^a   Kohl, Stefan ^a   Lovric, Svjetlana ^a   Astrinidis, Susanne A ^b   Pabst, Werner L ^a   Gee, Heon Yung ^a,c   Ashraf, Shazia ^a   Lawson, Jennifer A ^a   Shril, Shirlee ^a   Airik, Merlin ^a   Tan, Weizhen ^a   Schapiro, David ^a   Rao, Jia ^a   Choi, Won Il ^a   Hermle, Tobias ^a   Kemper, Markus J ^d   Pohl, Martin ^e   Ozaltin, Fatih ^f   Konrad, Martin ^g   Bogdanovic, Radovan ^h   Büscher, Rainer ⁱ   Helmchen, Udo ^d   Serdaroglu, Erkin ^j   Lifton, Richard P ^k,l   Antonin, Wolfram ^b   Hildebrandt, Friedhelm ^a,l   more..

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b FRIEDRICH MIESCHER LABORATORY OF THE MAX PLANCK SOCIETY   (Germany)

^c Yonsei University College of Medicine   (South Korea)

^d UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^e UNIVERSITY OF FREIBURG   (Germany)

^f HACETTEPE UNIVERSITY   (Turkey)

^g UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^h UNIVERSITY OF BELGRADE   (Serbia)

ⁱ UNIVERSITY OF DUISBURG ESSEN   (Germany)

^j Dr Behcet Uz Children Hospital   (Turkey)

^k YALE UNIVERSITY SCHOOL OF MEDICINE   (United States)

^l HOWARD HUGHES MEDICAL INSTITUTE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

EXPORTIN 5; NUCLEOPORIN; RECOMBINANT OSTEOGENIC PROTEIN 1; SMAD4 PROTEIN; KARYOPHERIN; NUP205 PROTEIN, HUMAN; NUP93 PROTEIN, HUMAN; STEROID; XPO5 PROTEIN, HUMAN;

ARTICLE; CHILD; CLINICAL ARTICLE; CONGENITAL NEPHROTIC SYNDROME; FEMALE; GENE; GENE MUTATION; HUMAN; KIDNEY DISEASE; MALE; NUCLEAR PORE; NUCLEAR PORE COMPLEX; NUP205 GENE; NUP93 GENE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN ASSEMBLY; PROTEIN INTERACTION; REPORTER GENE; SCHOOL CHILD; TRANSCRIPTION INITIATION; AMINO ACID SEQUENCE; ANIMAL; CELL CULTURE; CELL MOTION; CELL PROLIFERATION; DNA SEQUENCE; DRUG RESISTANCE; GENETIC ASSOCIATION STUDY; GENETIC LINKAGE; GENETICS; HEK293 CELL LINE; INFANT; METABOLISM; MOLECULAR GENETICS; MOUSE; MUTATION; NEPHROTIC SYNDROME; ONSET AGE; OXIDATIVE STRESS; PHYSIOLOGY; PODOCYTE; RECESSIVE GENE; XENOPUS LAEVIS;

AGE OF ONSET; AMINO ACID SEQUENCE; ANIMALS; CELL MOVEMENT; CELL PROLIFERATION; CELLS, CULTURED; CHILD; CHILD, PRESCHOOL; DRUG RESISTANCE; FEMALE; GENES, RECESSIVE; GENETIC ASSOCIATION STUDIES; GENETIC LINKAGE; HEK293 CELLS; HUMANS; INFANT; KARYOPHERINS; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; NEPHROTIC SYNDROME; NUCLEAR PORE COMPLEX PROTEINS; OXIDATIVE STRESS; PODOCYTES; SEQUENCE ANALYSIS, DNA; STEROIDS; XENOPUS LAEVIS;

EID: 84958063741     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3512     Document Type: Article

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