Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis

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

Volumn 111, Issue 27, 2014, Pages 9893-9898

  Hynes, Ann Marie ^a   Giles, Rachel H ^b   Srivastava, Shalabh ^a   Eley, Lorraine ^a   Whitehead, Jennifer ^a   Danilenko, Marina ^a   Raman, Shreya ^c   Slaats, Gisela G ^b   Colville, John G ^d   Ajzenberg, Henry ^b   Kroes, Hester Y ^b   Thelwall, Peter E ^a,d   Simmons, Nicholas L ^a   Miles, Colin G ^a   Sayer, John A ^a  

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b UNIVERSITY MEDICAL CENTER UTRECHT   (Netherlands)

^c ROYAL VICTORIA INFIRMARY   (United Kingdom)

^d NEWCASTLE UNIVERSITY   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

LYMPHOID ENHANCER FACTOR 1; SONIC HEDGEHOG PROTEIN; TRANSCRIPTION FACTOR 7; TRANSCRIPTION FACTOR GLI3;

ANIMAL CELL; ANIMAL EXPERIMENT; ANIMAL MODEL; ARTICLE; BRAIN DISEASE; CELL MUTANT; CEP290 GENE; CONTROLLED STUDY; EPITHELIUM CELL; EUKARYOTIC FLAGELLUM; EYE DISEASE; GENE; IN VITRO STUDY; JOUBERT SYNDROME; KIDNEY CELL; KIDNEY COLLECTING TUBULE; KIDNEY CYST; KIDNEY DISEASE; MALE; MOUSE; MOUSE MODEL; MUTANT MOUSE STRAIN; NEPHRONOPHTHISIS; NEWBORN; NEWBORN DISEASE; NONHUMAN; PRIORITY JOURNAL; SIGNAL TRANSDUCTION; SPHEROID CELL; WNT SIGNALING PATHWAY;

ANIMALS; CEREBELLAR DISEASES; EYE ABNORMALITIES; FLUORESCENT ANTIBODY TECHNIQUE; HEDGEHOG PROTEINS; KIDNEY DISEASES, CYSTIC; MICE; MICE, INBRED C57BL; NUCLEAR PROTEINS; RETINA; SIGNAL TRANSDUCTION;

EID: 84904012713     PISSN: 00278424     EISSN: 10916490     Source Type: Journal    
DOI: 10.1073/pnas.1322373111     Document Type: Article

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