Functional Dysregulation of CDC42 Causes Diverse Developmental Phenotypes

American Journal of Human Genetics

Volumn 102, Issue 2, 2018, Pages 309-320

  Martinelli, Simone ^a   Krumbach, Oliver H F ^b   Pantaleoni, Francesca ^c   Coppola, Simona ^a   Amin, Ehsan ^b   Pannone, Luca ^c   Nouri, Kazem ^b,aa   Farina, Luciapia ^a   Dvorsky, Radovan ^b   Lepri, Francesca ^c   Buchholzer, Marcel ^b   Konopatzki, Raphael ^b   Walsh, Laurence ^d   Payne, Katelyn ^d   Pierpont, Mary Ella ^e,f   Vergano, Samantha Schrier ^g   Langley, Katherine G ^h   Larsen, Douglas ⁱ   Farwell, Kelly D ^j   Tang, Sha ^j   Mroske, Cameron ^j   Gallotta, Ivan ^k   Di Schiavi, Elia ^k   della Monica, Matteo ^l   Lugli, Licia ^m   Rossi, Cesare ⁿ   Seri, Marco ^o   Cocchi, Guido ^o   Henderson, Lindsay ^h   Baskin, Berivan ^h   Alders, Mariëlle ^p   Mendoza Londono, Roberto ^q,r   Dupuis, Lucie ^q   Nickerson, Deborah A ^s   Chong, Jessica X ^t   Meeks, Naomi ^u   Brown, Kathleen ^u   Causey, Tahnee ^v   Cho, Megan T ^h   Demuth, Stephanie ^w   Digilio, Maria Cristina ^c   Gelb, Bruce D ^x   Bamshad, Michael J ^s,t   Zenker, Martin ^y   Ahmadian, Mohammad Reza ^b   Hennekam, Raoul C ^p   Tartaglia, Marco ^c   Mirzaa, Ghayda M ^t,z   more..

^a ISTITUTO SUPERIORE DI SANITÀ   (Italy)

^b HEINRICH HEINE UNIVERSITY   (Germany)

^c BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^d RILEY HOSPITAL FOR CHILDREN   (United States)

^e UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^f CHILDREN S HOSPITALS AND CLINICS OF MINNESOTA   (United States)

^g CHILDREN S HOSPITAL OF THE KING S DAUGHTERS   (United States)

^h GENEDX   (United States)

ⁱ WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^j AMBRY GENETICS   (United States)

^k CNR   (Italy)

^l UNIVERSITY OF FLORENCE   (Italy)

^m UNIVERSITY OF MODENA AND REGGIO EMILIA   (Italy)

ⁿ UNIVERSITY OF BOLOGNA   (Italy)

^o UNIVERSITY OF BOLOGNA   (Italy)

^p UNIVERSITY OF AMSTERDAM   (Netherlands)

^q HOSPITAL FOR SICK CHILDREN   (Canada)

^r UNIVERSITY OF TORONTO   (Canada)

^s UNIVERSITY OF WASHINGTON   (United States)

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

^u CHILDREN S HOSPITAL COLORADO   (United States)

^v VIRGINIA COMMONWEALTH UNIVERSITY   (United States)

^w Praxis für Humangenetik Erfurt   (Germany)

^x MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^y UNIVERSITY HOSPITAL MAGDEBURG   (Germany)

^z SEATTLE CHILDREN S RESEARCH INSTITUTE   (United States)

^aa QUEEN S UNIVERSITY   (Canada)

more..

Author keywords

cardiac defects; developmental anomalies; exome sequencing; functional profiling; genotype phenotype correlations; microcephaly; mutation spectrum; Noonan syndrome; phenotypic heterogeneity; thrombocytopenia

Indexed keywords

ARGININE; BINDING PROTEIN; FMNL2 PROTEIN; GLUTAMINE; GUANOSINE DIPHOSPHATE; GUANOSINE TRIPHOSPHATASE; GUANOSINE TRIPHOSPHATE; IQ MOTIF CONTAINING GUANOSINE TRIPHOSPHATASE ACTIVATING PROTEIN 1; P21 ACTIVATED KINASE 1; PROTEIN CDC42; UNCLASSIFIED DRUG; WISKOTT ALDRICH SYNDROME PROTEIN; CDC42 PROTEIN, HUMAN;

AMINO ACID SUBSTITUTION; ARTICLE; CDC42 GENE; CHILD; CLINICAL FEATURE; COHORT ANALYSIS; COMPUTER MODEL; CONTROLLED STUDY; DNA SEQUENCE; ENZYME ACTIVITY; GENE OVEREXPRESSION; GENETIC VARIABILITY; HUMAN; HUMAN CELL; IN VITRO STUDY; IN VIVO STUDY; MISSENSE MUTATION; NOONAN SYNDROME; NUCLEOTIDE TRANSPORT; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN PROTEIN INTERACTION; WHOLE EXOME SEQUENCING; WOUND HEALING ASSAY; ADOLESCENT; ADULT; CHEMISTRY; CRANIOFACIAL MALFORMATION; FEMALE; GENE EXPRESSION; GENETIC HETEROGENEITY; GENETICS; INFANT; MALE; MENTAL DISEASE; METABOLISM; MOLECULAR MODEL; MULTIPLE MALFORMATION SYNDROME; MUSCLE ATROPHY; PATHOLOGY; PHENOTYPE; PRESCHOOL CHILD; PROTEIN SECONDARY STRUCTURE; SEVERITY OF ILLNESS INDEX;

ABNORMALITIES, MULTIPLE; ADOLESCENT; ADULT; CDC42 GTP-BINDING PROTEIN; CHILD; CHILD, PRESCHOOL; CRANIOFACIAL ABNORMALITIES; FEMALE; GENE EXPRESSION; GENETIC HETEROGENEITY; HUMANS; INFANT; MALE; MODELS, MOLECULAR; MUSCULAR ATROPHY; MUTATION, MISSENSE; NEURODEVELOPMENTAL DISORDERS; NOONAN SYNDROME; PHENOTYPE; PROTEIN STRUCTURE, SECONDARY; SEVERITY OF ILLNESS INDEX;

EID: 85041605180     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2017.12.015     Document Type: Article

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