Novel mutations at RET ligand genes preventing receptor activation are associated to Hirschsprung's disease

Journal of Molecular Medicine

Volumn 89, Issue 5, 2011, Pages 471-480

  Ruiz Ferrer, MacArena ^a,b   Torroglosa, Ana ^a,b   Luzón Toro, Berta ^a,b   Fernández, Raquel M ^a,b   Antiñolo, Guillermo ^a,b   Mulligan, Lois M ^c   Borrego, Salud ^a,b  

^a UNIVERSITY OF SEVILLE   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c QUEEN S UNIVERSITY   (Canada)

Author keywords

ARTN; Enteric nervous system; GDNF; Hirschsprung's disease; Neural crest cells; NRTN; PSPN; RET proto oncogene

Indexed keywords

ARTEMIN; GLIAL CELL LINE DERIVED NEUROTROPHIC FACTOR; GLYCOSYLPHOSPHATIDYLINOSITOL ANCHORED PROTEIN; NEURTURIN; PERSEPHIN; PROTEIN RET;

AMINO ACID SUBSTITUTION; ARTICLE; CELL SURVIVAL; FEMALE; GENE MUTATION; GENETIC VARIABILITY; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN CELL; HUMAN TISSUE; INTESTINE INNERVATION; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; NEURAL CREST CELL; PHENOTYPE; PROTEIN EXPRESSION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; PROTEIN PHOSPHORYLATION; PROTEIN SECRETION;

CELL LINE; ENTERIC NERVOUS SYSTEM; FEMALE; GLIAL CELL LINE-DERIVED NEUROTROPHIC FACTOR; HIRSCHSPRUNG DISEASE; HUMANS; IMMUNOHISTOCHEMISTRY; MALE; MUTATION; NERVE TISSUE PROTEINS; NEURAL CREST; NEURTURIN; PHOSPHORYLATION; PROTO-ONCOGENE PROTEINS C-RET; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 79955711598     PISSN: 09462716     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00109-010-0714-2     Document Type: Article

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