A de novo mutation affecting human TrkB associated with severe obesity and developmental delay

Nature Neuroscience

Volumn 7, Issue 11, 2004, Pages 1187-1189

  Yeo, Giles S H ^a   Hung, Chiao Chien Connie ^a   Rochford, Justin ^a   Keogh, Julia ^a   Gray, Juliette ^a   Sivaramakrishnan, Shoba ^b   O'Rahilly, Stephen ^a   Farooqi, I Sadaf ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b Castleford Normanton Dist Hosp   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

BRAIN DERIVED NEUROTROPHIC FACTOR RECEPTOR;

ARTICLE; AUTOPHOSPHORYLATION; CASE REPORT; CHILD; DEVELOPMENTAL DISORDER; GENE; HUMAN; HYPERPHAGIA; LEARNING; MALE; MEMORY; MISSENSE MUTATION; NOCICEPTION; NUCLEIC ACID BASE SUBSTITUTION; OBESITY; PRIORITY JOURNAL; TRKB GENE;

AGE FACTORS; ANIMALS; BLOTTING, WESTERN; BODY MASS INDEX; BODY WEIGHT; BRAIN-DERIVED NEUROTROPHIC FACTOR; CHILD; COS CELLS; CYSTEINE; DEVELOPMENTAL DISABILITIES; DNA MUTATIONAL ANALYSIS; EATING; FLUORESCENT ANTIBODY TECHNIQUE; GENE EXPRESSION REGULATION; HUMANS; MALE; MAP KINASE SIGNALING SYSTEM; MEMORY DISORDERS; MUTATION, MISSENSE; OBESITY; PC12 CELLS; PHOSPHORYLATION; RATS; RECEPTOR, TRKB; TRANSFECTION; TYROSINE;

EID: 7044262828     PISSN: 10976256     EISSN: None     Source Type: Journal    
DOI: 10.1038/nn1336     Document Type: Article

References (15)

1. Kernie, S.G., Liebl, D.J. & Parada, L.F. EMBO J. 19, 1290-1300 (2000).
2. Xu, B. et al. Nat Neurosci. 6, 736-742 (2003).
3. Rios, M. et al. Mol. Endocrinol. 15, 1748-1757 (2001).
4. Huang, E.J. & Reichardt, L.F. Annu. Rev. Neurosci. 24, 677-736 (2001).
5. O'Rahilly, S., Farooqi, I.S., Yeo, G.S. & Challis, B.G. Endocrinology 144, 3757-3764 (2003).
6. Ultsch, M.H. et al. J. Mol. Biol. 290, 149-159 (1999).
7. Guiton, M., Gunn-Moore, F.J., Stitt, T.N., Yancopoulos, G.D. & Tavare, J.M. J. Biol. Chem. 269, 30370-30377 (1994).
8. McCarty, J.H. & Feinstein, S.C. Oncogens 16, 1691-1700 (1998).
9. Farooqi, I.S. et al. N. Engl. J. Med. 348, 1085-1095 (2003).
10. Erickson, J.T. et al. J. Neurosci. 16, 5361-5371 (1996).
11. Donouan, M.J. et al. Development 127, 4531-4540 (2000).
12. Elliot, C.D., Smith, P. & McCulloch, K. British Ability Scales II: Administration and Scoring Manual (NFER-Nelson Publishing Company Ltd, Windsor, UK, 1996).
13. Egan, M.F. et al. Cell 112, 257-269 (2003).
14. Klein, R. et al. Cell 75, 113-122 (1993).
15. Indo, Y. et al. Nat. Genet. 13, 485-488 (1996).