A Mutation in Mouse Pak1ip1 Causes Orofacial Clefting while Human PAK1IP1 Maps to 6p24 Translocation Breaking Points Associated with Orofacial Clefting

PLoS ONE

Volumn 8, Issue 7, 2013, Pages

  Ross, Adam P ^a   Mansilla, M Adela ^b   Choe, Youngshik ^c   Helminski, Simon ^a   Sturm, Richard ^d   Maute, Roy L ^e   May, Scott R ^f   Hozyasz, Kamil K ^g   Wójcicki, Piotr ^h,i   Mostowska, Adrianna ^j   Davidson, Beth ^b   Adamopoulos, Iannis E ^a,k   Pleasure, Samuel J ^c   Murray, Jeffrey C ^b   Zarbalis, Konstantinos S ^a,k  

^a UNIVERSITY OF CALIFORNIA   (United States)

^b UNIVERSITY OF IOWA   (United States)

^c UNIVERSITY OF CALIFORNIA   (United States)

^d UNIVERSITY OF HEIDELBERG   (Germany)

^e Och Spine at New York Presbyterian Hospitals   (United States)

^f SALK INSTITUTE FOR BIOLOGICAL STUDIES   (United States)

^g INSTITUTE OF MOTHER AND CHILD   (Poland)

^h WROCLAW MEDICAL UNIVERSITY   (Poland)

ⁱ Medical Centre   (Poland)

^j POZNAN UNIVERSITY OF MEDICAL SCIENCES   (Poland)

^k SHRINERS HOSPITALS FOR CHILDREN NORTHERN CALIFORNIA   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALLELE; ANIMAL CELL; ANIMAL TISSUE; ARTICLE; BRAIN MALFORMATION; CHROMOSOME 6P; CHROMOSOME TRANSLOCATION; CLEFT PALATE; CONTROLLED STUDY; CRANIOFACIAL MALFORMATION; EMBRYO; FEMALE; GENE; GENE LOCUS; GENE MAPPING; GENETIC ASSOCIATION; GENETIC CODE; GENETIC VARIABILITY; HOMOZYGOSITY; HUMAN; MAJOR CLINICAL STUDY; MALE; MANTA RAY GENE; MOUSE; NONHUMAN; NUCLEOTIDE SEQUENCE; OROFACIAL CLEFT; PAK1IP1 GENE; PATHOGENESIS; POINT MUTATION; PROMOTER REGION; SINGLE NUCLEOTIDE POLYMORPHISM;

ALLELES; AMINO ACID SEQUENCE; ANIMALS; CHROMOSOME BREAKPOINTS; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 6; CLEFT LIP; CLEFT PALATE; FEMALE; HOMOZYGOTE; HUMANS; INTRACELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MICE; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEAR PROTEINS; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN ISOFORMS; TRANSLOCATION, GENETIC;

EID: 84880845430     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0069333     Document Type: Article

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