Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization

Human Molecular Genetics

Volumn 24, Issue 20, 2015, Pages 5789-5804

  Greenlees, Rebecca ^a,b,c   Mihelec, Marija ^a,b,c   Yousoof, Saira ^a,b,c   Speidel, Daniel ^d   Wu, Selwin K ^f   Rinkwitz, Silke ^d   Prokudin, Ivan ^a,b,c   Perveen, Rahat ^g   Cheng, Anson ^a,b,c   Ma, Alan ^a,b,c   Nash, Benjamin ^a,b,c   Gillespie, Rachel ^g   Loebel, David A F ^a   Clayton Smith, Jill ^g,h   Christopher Lloyd, I ^g,h   Grigg, John R ^a,b,c   Tam, Patrick P L ^a   Yap, Alpha S ^f   Becker, Thomas S ^d   Black, Graeme C M ^g,h   Semina, Elena ^e   Jamieson, Robyn V ^a,b,c   more..

^a UNIVERSITY OF SYDNEY   (Australia)

^b CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^c UNIVERSITY OF SYDNEY   (Australia)

^d UNIVERSITY OF SYDNEY   (Australia)

^e MEDICAL COLLEGE OF WISCONSIN   (United States)

^f UNIVERSITY OF QUEENSLAND   (Australia)

^g UNIVERSITY OF MANCHESTER   (United Kingdom)

^h UNIVERSITY OF MANCHESTER   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

ACTIN; GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN; RAP1 PROTEIN; RAP1A PROTEIN, HUMAN; SIGNAL-INDUCED PROLIFERATION-ASSOCIATED 1-LIKE PROTEIN 3, HUMAN; SIPA1L3 PROTEIN, MOUSE; SIPA1L3 PROTEIN, ZEBRAFISH; ZEBRAFISH PROTEIN;

ADULT; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ANTERIOR EYE SEGMENT; ARTICLE; CATARACT; CELL ADHESION; CELL CULTURE; CELL JUNCTION; CELL POLARITY; CELL STRUCTURE; CONTROLLED STUDY; CYTOSKELETON; EMBRYO; EPITHELIAL MESENCHYMAL TRANSITION; EPITHELIUM CELL; EYE MALFORMATION; GENE; GENE EXPRESSION; GENE MUTATION; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; LENS DISEASE; LYMPHOBLAST; MAJOR CLINICAL STUDY; MICROPHTHALMIA; MISSENSE MUTATION; MORPHOGENESIS; MOUSE; NONHUMAN; PATHOGENICITY; PRIORITY JOURNAL; SIPA1L3 GENE; STRESS FIBER; ZEBRA FISH; AMINO ACID SEQUENCE; ANIMAL; CASE REPORT; DNA MUTATIONAL ANALYSIS; GENETICS; METABOLISM; MOLECULAR GENETICS; MUTATION; PATHOPHYSIOLOGY; SIGNAL TRANSDUCTION; ULTRASTRUCTURE;

AMINO ACID SEQUENCE; ANIMALS; CATARACT; CELL POLARITY; CYTOSKELETON; DNA MUTATIONAL ANALYSIS; EPITHELIAL-MESENCHYMAL TRANSITION; EYE ABNORMALITIES; GTPASE-ACTIVATING PROTEINS; HUMANS; MICE; MOLECULAR SEQUENCE DATA; MUTATION; RAP1 GTP-BINDING PROTEINS; SIGNAL TRANSDUCTION; ZEBRAFISH; ZEBRAFISH PROTEINS;

EID: 84943766596     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddv298     Document Type: Article

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