Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome

Proceedings of the National Academy of Sciences of the United States of America

Volumn 109, Issue 42, 2012, Pages 16951-16956

  Aguilar, Andrea ^a,b,c,e   Meunier, Alice ^a,b,c   Strehl, Laetitia ^a,b,c,f   Martinovic, Jelena ^d   Bonniere, Maryse ^d   Attie Bitach, Tania ^b,d   Encha Razavi, Féŕechté ^b,d   Spassky, Nathalie ^a,b,c  

^a ECOLE NORMALE SUPÉRIEURE   (France)

^b INSERM   (France)

^c CNRS   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e STANFORD UNIVERSITY SCHOOL OF MEDICINE   (United States)

^f SORBONNE UNIVERSITÉ   (France)

Author keywords

Cilia; Developmental pathology; Granular neuron; Hindbrain

Indexed keywords

SONIC HEDGEHOG PROTEIN;

ARTICLE; BRAIN DEVELOPMENT; CELL PROLIFERATION; CEREBELLUM; CEREBELLUM VERMIS; GRANULE CELL; GRANULE CELL PROGENITOR; HEMISPHERE; JOUBERT SYNDROME; MECKEL SYNDROME; PRIORITY JOURNAL; SIGNAL TRANSDUCTION;

ANIMALS; ANTIGENS, NEOPLASM; CELL PROLIFERATION; CEREBELLAR DISEASES; CEREBELLUM; CILIARY MOTILITY DISORDERS; ENCEPHALOCELE; EYE ABNORMALITIES; GRANULOCYTE PRECURSOR CELLS; HEDGEHOG PROTEINS; HUMANS; IMMUNOHISTOCHEMISTRY; IN SITU HYBRIDIZATION; KIDNEY DISEASES, CYSTIC; MICE; MICROSCOPY, ELECTRON, TRANSMISSION; MICROSCOPY, FLUORESCENCE; NEOPLASM PROTEINS; POLYCYSTIC KIDNEY DISEASES; RETINA; RNA INTERFERENCE; SIGNAL TRANSDUCTION; STATISTICS, NONPARAMETRIC;

EID: 84867649476     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1201408109     Document Type: Article

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