Mutations in EMP2 cause childhood-onset Nephrotic syndrome

American Journal of Human Genetics

Volumn 94, Issue 6, 2014, Pages 884-890

  Gee, Heon Yung ^a   Ashraf, Shazia ^a   Wan, Xiaoyang ^b   Vega Warner, Virginia ^b   Esteve Rudd, Julian ^c   Lovric, Svjetlana ^a   Fang, Humphrey ^a   Hurd, Toby W ^d   Sadowski, Carolin E ^a   Allen, Susan J ^b   Otto, Edgar A ^b   Korkmaz, Emine ^e   Washburn, Joseph ^b   Levy, Shawn ^f   Williams, David S ^c   Bakkaloglu, Sevcan A ^g   Zolotnitskaya, Anna ^h   Ozaltin, Fatih ^e   Zhou, Weibin ^b   Hildebrandt, Friedhelm ^a,i  

^a BOSTON CHILDREN S HOSPITAL   (United States)

^b UNIVERSITY OF MICHIGAN   (United States)

^c JULES STEIN EYE INSTITUTE   (United States)

^d UNIVERSITY OF EDINBURGH   (United Kingdom)

^e HACETTEPE UNIVERSITY   (Turkey)

^f HUDSONALPHA INSTITUTE FOR BIOTECHNOLOGY   (United States)

^g GAZI UNIVERSITY   (Turkey)

^h NEW YORK MEDICAL COLLEGE   (United States)

ⁱ HOWARD HUGHES MEDICAL INSTITUTE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CAVEOLIN 1; CYCLOPHOSPHAMIDE; EPITHELIAL MEMBRANE PROTEIN 2; MEMBRANE PROTEIN; UNCLASSIFIED DRUG; ALBUMIN; CHOLESTEROL; MESSENGER RNA; MORPHOLINO OLIGONUCLEOTIDE; PERIPHERAL MYELIN PROTEIN 22; PODOCALYXIN; PROTEIN P53; SYNAPTOPODIN; VASCULOTROPIN A;

ARTICLE; CELL PROLIFERATION; CHILDHOOD DISEASE; CONGENITAL NEPHROTIC SYNDROME; ENDOTHELIUM CELL; GENE MUTATION; HOMOZYGOSITY; MULTIPLEX POLYMERASE CHAIN REACTION; NEPHROTIC SYNDROME; NONHUMAN; NUCLEOTIDE SEQUENCE; ORTHOLOGY; PERICARDIAL EFFUSION; PHENOTYPE; PODOCYTE; PRIORITY JOURNAL; PROTEIN DEPLETION; STEROID SENSITIVE NEPHROTIC SYNDROME; ZEBRA FISH; CHILD; CONTROLLED STUDY; ENDOCYTOSIS; EXOME; EXON; GENE SEQUENCE; GENE SILENCING; HUMAN; IN SITU HYBRIDIZATION; MAJOR CLINICAL STUDY; MISSENSE MUTATION; NONSENSE MUTATION; TRANSCYTOSIS;

DANIO RERIO;

ALLELES; ANIMALS; CAVEOLIN 1; CELL PROLIFERATION; CHILD, PRESCHOOL; CHROMOSOME MAPPING; ENDOTHELIAL CELLS; GENE EXPRESSION REGULATION; GENETIC LOCI; HOMOZYGOTE; HUMANS; INFANT; KIDNEY; KIDNEY FAILURE, CHRONIC; MEMBRANE GLYCOPROTEINS; MUTATION; NEPHROTIC SYNDROME; ZEBRAFISH;

EID: 84902284568     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2014.04.010     Document Type: Article

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