Mutations in ANKS6 cause a nephronophthisis-like phenotype with ESRD

Journal of the American Society of Nephrology

Volumn 25, Issue 8, 2014, Pages 1653-1661

  Taskiran, Ekim Z ^a   Korkmaz, Emine ^a   Gucer, Safak ^a   Kosukcu, Can ^a   Kaymaz, Figen ^a   Koyunlar, Cansu ^a   Bryda, Elizabeth C ^b   Chaki, Moumita ^c   Lu, Dongmei ^c   Vadnagara, Komal ^c   Candan, Cengiz ^e   Topaloglu, Rezan ^a   Schaefer, Franz ^f   Attanasio, Massimo ^c,d   Bergmann, Carsten ^g,h   Ozaltin, Fatih ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b UNIVERSITY OF MISSOURI   (United States)

^c UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^d UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^e ISTANBUL MEDENIYET UNIVERSITY   (Turkey)

^f Center for Pediatrics and Adolescent Medicine   (Germany)

^g Bioscientia Center for Human Genetics   (Germany)

^h UNIVERSITY OF FREIBURG   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

ANKS6 PROTEIN; BETA CATENIN; PROTEIN; UNCLASSIFIED DRUG; NUCLEAR PROTEIN; SAMCYSTIN PROTEIN, HUMAN;

ADOLESCENT; ADULT; ANIMAL TISSUE; ARTICLE; CHILD; CHROMOSOME 9Q; COHORT ANALYSIS; CONSANGUINEOUS MARRIAGE; END STAGE RENAL DISEASE; EXON; FAMILY; GENE EXPRESSION; GENE MAPPING; GENE MUTATION; GENOME ANALYSIS; GLOMERULUS; HAPLOTYPE; HOMOZYGOSITY; HUMAN; HUMAN TISSUE; IMMUNOHISTOCHEMISTRY; INHERITANCE; INTERSTITIAL NEPHRITIS; INTRON; KIDNEY DEVELOPMENT; KIDNEY PARENCHYMA; LINKAGE ANALYSIS; MAJOR CLINICAL STUDY; MIDDLE AGED; NEPHRONOPHTHISIS; NEXT GENERATION SEQUENCING; NONHUMAN; PEDIGREE; PHENOTYPE; PODOCYTE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEINURIA; RAT; REGULATORY MECHANISM; RNA SPLICING; SCHOOL CHILD; SINGLE NUCLEOTIDE POLYMORPHISM; WNT SIGNALING PATHWAY; YOUNG ADULT; CHRONIC KIDNEY FAILURE; COMPLICATION; FEMALE; GENETICS; INFANT; KIDNEY POLYCYSTIC DISEASE; MALE; MUTATION; PATHOLOGY; TURKEY;

ADOLESCENT; ADULT; CHILD; COHORT STUDIES; FEMALE; HUMANS; INFANT; KIDNEY DISEASES, CYSTIC; KIDNEY FAILURE, CHRONIC; MALE; MIDDLE AGED; MUTATION; NUCLEAR PROTEINS; PEDIGREE; PHENOTYPE; TURKEY;

EID: 84921672430     PISSN: 10466673     EISSN: 15333450     Source Type: Journal    
DOI: 10.1681/ASN.2013060646     Document Type: Article

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