Mutations in the Epithelial Cadherin-p120-Catenin Complex Cause Mendelian Non-Syndromic Cleft Lip with or without Cleft Palate

American Journal of Human Genetics

Volumn 102, Issue 6, 2018, Pages 1143-1157

  Cox, Liza L ^a,b,c   Cox, Timothy C ^a,b,d   Moreno Uribe, Lina M ^e   Zhu, Ying ^f,g   Richter, Chika T ^e   Nidey, Nichole ^h   Standley, Jennifer M ^h   Deng, Mei ⁱ   Blue, Elizabeth ^a   Chong, Jessica X ^a   Yang, Yueqin ^j   Carstens, Russ P ^j,k   Anand, Deepti ^l   Lachke, Salil A ^l   Smith, Joshua D ⁱ   Dorschner, Michael O ⁱ   Bedell, Bruce ^h   Kirk, Edwin ^f,m   Hing, Anne V ^a,n   Venselaar, Hanka ^o   Valencia Ramirez, Luz C ^p   Bamshad, Michael J ^a,i   Glass, Ian A ^a,i   Cooper, Jonathan A ^c   Haan, Eric ^q,r   Nickerson, Deborah A ⁱ   van Bokhoven, Hans ^o,s   Zhou, Huiqing ^o,t   Krahn, Katy N ^u   Buckley, Michael F ^f   Murray, Jeffrey C ^h   Lidral, Andrew C ^v   Roscioli, Tony ^m,w,x   more..

^a UNIVERSITY OF WASHINGTON SCHOOL OF MEDICINE   (United States)

^b SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^c Fred Hutchinson Cancer Research Center   (United States)

^d MONASH UNIVERSITY   (Australia)

^e UNIVERSITY OF IOWA   (United States)

^f PRINCE OF WALES HOSPITAL   (Australia)

^g Genetics of Learning Disability Service   (Australia)

^h UNIVERSITY OF IOWA   (United States)

ⁱ UNIVERSITY OF WASHINGTON   (United States)

^j UNIVERSITY OF PENNSYLVANIA   (United States)

^k UNIVERSITY OF PENNSYLVANIA   (United States)

^l UNIVERSITY OF DELAWARE   (United States)

^m SYDNEY CHILDREN'S HOSPITAL   (Australia)

ⁿ SEATTLE CHILDREN S HOSPITAL   (United States)

^o RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^p Grupo de LPH   (Colombia)

^q WOMEN S AND CHILDREN S HOSPITAL   (Australia)

^r UNIVERSITY OF ADELAIDE   (Australia)

^s RADBOUD UNIVERSITY   (Netherlands)

^t RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^u UNIVERSITY OF VIRGINIA   (United States)

^v Lidral Orthodontics   (United States)

^w UNIVERSITY OF NEW SOUTH WALES   (Australia)

^x NEUROSCIENCE RESEARCH AUSTRALIA   (Australia)

more..

Author keywords

adherens junction; cadherin; catenin; cell adhesion; cleft lip; cleft lip palate; cleft palate; epithelia; exome sequencing; knockout

Indexed keywords

CADHERIN; CATENIN; PROTEIN P120; UVOMORULIN; DELTA CATENIN;

ANIMAL TISSUE; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CDH1 GENE; CLEFT LIP; CONTROLLED STUDY; CTNND1 GENE; EMBRYO; EPITHELIUM; ESRP2 GENE; FAMILY; FEMALE; GENE; GENE EXPRESSION; GENE IDENTIFICATION; GENE MUTATION; GENETIC TRANSFECTION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; HUMAN TISSUE; KNOCKOUT MOUSE; MAJOR CLINICAL STUDY; MALE; MENDELIAN NON SYNDROMIC CLEFT LIP WITH OR WITHOUT CLEFT PALATE; MOUSE; NONHUMAN; PATHOGENESIS; PEDIGREE; PLEKHA5 GENE; PLEKHA7 GENE; PRIORITY JOURNAL; PROTEIN EXPRESSION; SANGER SEQUENCING; SW48 CELL LINE; WHOLE EXOME SEQUENCING; ALLELE; AMINO ACID SEQUENCE; ANIMAL; BIOTINYLATION; CLEFT PALATE; GENE DELETION; GENETIC PREDISPOSITION; GENETICS; INFANT; METABOLISM; MUTATION; NEWBORN; PALATE; PATHOLOGY; SYNDROME;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; BIOTINYLATION; CADHERINS; CATENINS; CLEFT LIP; CLEFT PALATE; EPITHELIUM; FEMALE; GENE DELETION; GENETIC PREDISPOSITION TO DISEASE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MICE; MUTATION; PALATE; PEDIGREE; SYNDROME; WHOLE EXOME SEQUENCING;

EID: 85047177490     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2018.04.009     Document Type: Article

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