Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Genetics in Medicine

Volumn 18, Issue 11, 2016, Pages 1158-1162

  Ockeloen, Charlotte W ^a   Khandelwal, Kriti D ^a   Dreesen, Karoline ^a,b   Ludwig, Kerstin U ^c   Sullivan, Robert ^d   Van Rooij, Iris A L M ^a   Thonissen, Michelle ^a   Swinnen, Steven ^b   Phan, Milien ^a   Conte, Federica ^e   Ishorst, Nina ^c   Gilissen, Christian ^a   Roa Fuentes, Laury ^a   Van De Vorst, Maartje ^a   Henkes, Arjen ^a   Steehouwer, Marloes ^a   Van Beusekom, Ellen ^a   Bloemen, Marjon ^a   Vankeirsbilck, Bruno ^b   Bergé, Stefaan ^a   Hens, Greet ^b   Schoenaers, Joseph ^b   Vander Poorten, Vincent ^b   Roosenboom, Jasmien ^b   Verdonck, An ^a,b   Devriendt, Koen ^b   Roeleveldt, Nel ^a   Jhangiani, Shalini N ^f   Vissers, Lisenka E L M ^a   Lupski, James R ^f,g   De Ligt, Joep ^h   Von Den Hoff, Johannes W ^a   Pfundt, Rolph ^a   Brunner, Han G ^a   Zhou, Huiqing ^a,e   Dixon, Jill ^d   Mangold, Elisabeth ^c   Van Bokhoven, Hans ^a,i   Dixon, Michael J ^d   Kleefstra, Tjitske ^a,i   Hoischen, Alexander ^a,i   Carels, Carine E L ^a,b   more..

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY HOSPITALS LEUVEN   (Belgium)

^c UNIVERSITY OF BONN   (Germany)

^d UNIVERSITY OF MANCHESTER   (United Kingdom)

^e RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^f BAYLOR COLLEGE OF MEDICINE   (United States)

^g TEXAS CHILDREN S HOSPITAL   (United States)

^h UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

ⁱ RADBOUD UNIVERSITY   (Netherlands)

Author keywords

LRP6; molecular inversion probes; tooth agenesis; Wnt catenin canonical signaling pathway

Indexed keywords

LOW DENSITY LIPOPROTEIN RECEPTOR RELATED PROTEIN 6; MESSENGER RNA; WNT PROTEIN; LRP6 PROTEIN, HUMAN;

ANIMAL TISSUE; ARTICLE; CHROMATIN IMMUNOPRECIPITATION; CLEFT FACE; CODON; COHORT ANALYSIS; COMPARATIVE STUDY; CONTROLLED STUDY; DISEASE SEVERITY; EXON; FRAMESHIFT MUTATION; GENE MUTATION; GENE SEQUENCE; HUMAN; HYPODONTIA; IMMUNOHISTOCHEMISTRY; MAJOR CLINICAL STUDY; MALE; MISSENSE MUTATION; MOUSE; NONHUMAN; OROFACIAL CLEFTING; OSSIFICATION; POLYMERASE CHAIN REACTION; PROTEIN EXPRESSION; QUANTITATIVE ANALYSIS; SEGREGATION ANALYSIS; SEQUENCE ANALYSIS; TOOTH DEVELOPMENT; TOOTH DISEASE; TOOTH MALFORMATION; WHOLE EXOME SEQUENCING; WNT SIGNALING PATHWAY; ADOLESCENT; ANODONTIA; CHILD; DNA SEQUENCE; EXOME; FEMALE; GENETIC PREDISPOSITION; GENETICS; PATHOLOGY; PEDIGREE; WNT SIGNALING;

ADOLESCENT; ANODONTIA; CHILD; EXOME; FEMALE; FRAMESHIFT MUTATION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; LOW DENSITY LIPOPROTEIN RECEPTOR-RELATED PROTEIN-6; MALE; MUTATION, MISSENSE; PEDIGREE; SEQUENCE ANALYSIS, DNA; WNT SIGNALING PATHWAY;

EID: 84994106572     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2016.10     Document Type: Article

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