Mutations in TUBGCP4 alter microtubule organization via the γ-tubulin ring complex in autosomal-recessive microcephaly with chorioretinopathy

American Journal of Human Genetics

Volumn 96, Issue 4, 2015, Pages 666-674

  Scheidecker, Sophie ^a   Etard, Christelle ^b   Haren, Laurence ^c   Stoetzel, Corinne ^a   Hull, Sarah ^d,e   Arno, Gavin ^d,e   Plagnol, Vincent ^f   Drunat, Séverine ^g   Passemard, Sandrine ^g   Toutain, Annick ^h   Obringer, Cathy ^a   Koob, Mériam ⁱ   Geoffroy, Véronique ^a   Marion, Vincent ^a   Strähle, Uwe ^b   Ostergaard, Pia ^j   Verloes, Alain ^g   Merdes, Andreas ^c   Moore, Anthony T ^d,e,k   Dollfus, Hélène ^a,l  

^a UNIVERSITÉ DE STRASBOURG   (France)

^b KARLSRUHE INSTITUTE OF TECHNOLOGY   (Germany)

^c UNIVERSITÉ PAUL SABATIER   (France)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e MOORFIELDS EYE HOSPITAL   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g Section of Radiology   (France)

^h UNIVERSITÉ DE TOURS   (France)

ⁱ Faculté de Médecine   (France)

^j ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^k GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^l UNIVERSITY HOSPITAL OF STRASBOURG   (France)

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Author keywords

[No Author keywords available]

Indexed keywords

COMPLEMENTARY DNA; GAMMA TUBULIN; TRANSIENT RECEPTOR POTENTIAL CHANNEL M2; MICROTUBULE ASSOCIATED PROTEIN; TUBGCP4 PROTEIN, HUMAN; TUBULIN;

AGYRIA; ANEUPLOIDY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLINDNESS; BRAIN DEVELOPMENT; CELL STRUCTURE; CHORIORETINOPATHY; COPY NUMBER VARIATION; CYTOKINESIS; DNA DAMAGE; DOWN REGULATION; ENZYME REGULATION; EVOKED VISUAL RESPONSE; EXOME; EXON SKIPPING; EYE DEVELOPMENT; EYE MALFORMATION; FOLLOW UP; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE FREQUENCY; GENE SEQUENCE; GENETIC HETEROGENEITY; GENETIC VARIABILITY; HIGH THROUGHPUT SEQUENCING; HORSESHOE KIDNEY; HUMAN; INTELLIGENCE; INTRACELLULAR TRANSPORT; INTRAUTERINE GROWTH RETARDATION; LARGE EAR; LEARNING DISORDER; MACROGYRIA; MICROCEPHALY; MICROGYRIA; MICROTUBULE; MITOSIS; NEUROIMAGING; NONHUMAN; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR SHAPE; NYSTAGMUS; OBESITY; ONSET AGE; OPTIC NERVE HYPOPLASIA; PATHOGENESIS; PHENOTYPE; PRIORITY JOURNAL; RETINA BLOOD FLOW; RETINA DETACHMENT; RETINA FOLD; RETROGNATHIA; REVERSE TRANSCRIPTION; SEQUENCE HOMOLOGY; SPLICING DEFECT; TUBGCP4 GENE; VISUAL ACUITY; VISUAL IMPAIRMENT; CHOROID DISEASE; DNA SEQUENCE; EYE DISEASE; FRANCE; GENE STRUCTURE; GENETICS; METABOLISM; MOLECULAR GENETICS; NUCLEOTIDE SEQUENCE; PEDIGREE; RETINA DISEASE;

DANIO RERIO;

BASE SEQUENCE; CHOROID DISEASES; EXOME; EYE DISEASES, HEREDITARY; FRAMESHIFT MUTATION; FRANCE; GENE COMPONENTS; HUMANS; MICROCEPHALY; MICROTUBULE-ASSOCIATED PROTEINS; MICROTUBULES; MOLECULAR SEQUENCE DATA; PEDIGREE; RETINAL DISEASES; SEQUENCE ANALYSIS, DNA; TUBULIN;

EID: 84926252551     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2015.02.011     Document Type: Article

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