ZC4H2 mutations are associated with arthrogryposis multiplex congenita and intellectual disability through impairment of central and peripheral synaptic plasticity

American Journal of Human Genetics

Volumn 92, Issue 5, 2013, Pages 681-695

  Hirata, Hiromi ^a   Nanda, Indrajit ^b   Van Riesen, Anne ^c   McMichael, Gai ^d   Hu, Hao ^e   Hambrock, Melanie ^e   Papon, Marie Amélie ^f,g   Fischer, Ute ^e   Marouillat, Sylviane ^f,g   Ding, Can ^c   Alirol, Servane ^f,g   Bienek, Melanie ^e   Preisler Adams, Sabine ^h   Grimme, Astrid ^e   Seelow, Dominik ^c   Webster, Richard ⁱ   Haan, Eric ^d,j   MacLennan, Alastair ^d   Stenzel, Werner ^c   Yap, Tzu Ying ^d   Gardner, Alison ^k   Nguyen, Lam Son ^d   Shaw, Marie ^d   Lebrun, Nicolas ^l,m   Haas, Stefan A ^e   Kress, Wolfram ^b   Haaf, Thomas ^b   Schellenberger, Elke ⁿ   Chelly, Jamel ^l,m   Viot, Géraldine ^o   Shaffer, Lisa G ^p,u   Rosenfeld, Jill A ^p   Kramer, Nancy ^q   Falk, Rena ^q   El Khechen, Dima ^r   Escobar, Luis F ^r   Hennekam, Raoul ^s   Wieacker, Peter ^h   Hübner, Christoph ^c   Ropers, Hans Hilger ^e   Gecz, Jozef ^d,k   Schuelke, Markus ^c   Laumonnier, Frédéric ^f,g,t   Kalscheuer, Vera M ^e   more..

^a JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

^b UNIVERSITY OF WÜRZBURG   (Germany)

^c CHARITÉ UNIVERSITÄTSMEDIZIN BERLIN   (Germany)

^d UNIVERSITY OF ADELAIDE   (Australia)

^e MAX PLANCK INSTITUTE FOR MOLECULAR GENETICS   (Germany)

^f UNIVERSITÉ DE TOURS   (France)

^g INSERM   (France)

^h UNIVERSITY OF MÜNSTER   (Germany)

ⁱ CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^j South Australian Clinical Genetics Service   (Australia)

^k Neurogenetics QIMR Berghofer Medical Research Institute   (Australia)

^l UNIVERSITÉ PARIS DESCARTES   (France)

^m CNRS   (France)

ⁿ Missionsarztlichen Klinik Wurzburg   (Germany)

^o PerkinElmer Inc ^*  (France)

^p PERKINELMER INC   (United States)

^q CEDARS SINAI MEDICAL CENTER   (United States)

^r Peyton Manning Children Hospital   (United States)

^s ACADEMIC MEDICAL CENTER   (Netherlands)

^t UNIVERSITY HOSPITAL OF TOURS   (France)

^u Paw Print Genetics Genetic Veterinary Sciences Inc   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ANTISENSE OLIGODEOXYNUCLEOTIDE; MORPHOLINO OLIGONUCLEOTIDE; ZINC FINGER PROTEIN;

ADOLESCENT; ADULT; AGED; ALLELE; ALPHA NERVE FIBER; ANIMAL BEHAVIOR; ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ARTHROGRYPOSIS; ARTICLE; BRAIN NERVE CELL; CELL DENSITY; CENTRAL NERVOUS SYSTEM; CEREBRAL PALSY; CHILD; CHROMOSOME BREAKAGE; CHROMOSOME INVERSION; CHROMOSOME MAP; CLINICAL ARTICLE; CLINICAL FEATURE; COMPARATIVE GENOMIC HYBRIDIZATION; CONTROLLED STUDY; DENDRITIC SPINE; DEVELOPMENTAL DISORDER; DISEASE SEVERITY; EMBRYO; EMBRYO DEVELOPMENT; EXCITATORY POSTSYNAPTIC POTENTIAL; FEMALE; GENE; GENE DELETION; GENE EXPRESSION; GENE LOCUS; GENE MUTATION; GENE REARRANGEMENT; GENE SEQUENCE; GENE SILENCING; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HAPLOTYPE; HETEROZYGOTE; HIPPOCAMPUS; HUMAN; HUMAN CELL; IMMUNOFLUORESCENCE TEST; INFANT; INTELLECTUAL IMPAIRMENT; MALE; MOUSE; MUSCLE WEAKNESS; NERVE CELL DIFFERENTIATION; NERVE CELL PLASTICITY; NERVOUS SYSTEM DEVELOPMENT; NEWBORN; NONHUMAN; NUCLEOTIDE SEQUENCE; PERIPHERAL NERVOUS SYSTEM; POINT MUTATION; POSTNATAL DEVELOPMENT; POSTSYNAPTIC MEMBRANE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD; SWIMMING; WILD TYPE; X CHROMOSOME ABERRATION; ZC4H2 GENE; ZEBRA FISH;

ABNORMALITIES, MULTIPLE; ANIMALS; ARTHROGRYPOSIS; CARRIER PROTEINS; CELLS, CULTURED; CHROMOSOME BREAKPOINTS; COMPARATIVE GENOMIC HYBRIDIZATION; FEMALE; GENETIC PREDISPOSITION TO DISEASE; HAPLOTYPES; HIGH-THROUGHPUT NUCLEOTIDE SEQUENCING; HUMANS; IMMUNOBLOTTING; IN SITU HYBRIDIZATION; INTELLECTUAL DISABILITY; MALE; MICE; MUTATION; NEURONAL PLASTICITY; PEDIGREE; SYNAPSES; ZEBRAFISH; ZINC FINGERS;

DANIO RERIO;

EID: 84877583900     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2013.03.021     Document Type: Article

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