Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse

Nature Genetics

Volumn 36, Issue 9, 2004, Pages 994-998

  Kulaga, Heather M ^a   Leitch, Carmen C ^b   Eichers, Erica R ^c   Badano, Jose L ^b   Lesemann, Alysa ^a   Hoskins, Bethan E ^d   Lupski, James R ^c   Beales, Philip L ^d   Reed, Randall R ^a   Katsanis, Nicholas ^b,e  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS UNIVERSITY   (United States)

^c BAYLOR COLLEGE OF MEDICINE   (United States)

^d UNIVERSITY COLLEGE LONDON   (United Kingdom)

^e JOHNS HOPKINS UNIVERSITY   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BBS PROTEIN; PROTEIN; UNCLASSIFIED DRUG;

ADULT; ANIMAL CELL; ANIMAL TISSUE; ANOSMIA; ARTICLE; BARDET BIEDL SYNDROME; BBS1 GENE; BBS4 GENE; CELL ULTRASTRUCTURE; CELLULAR DISTRIBUTION; CILIARY DYSKINESIA; CILIATED EPITHELIUM; DENDRITE; EMBRYO; GENE; GENE DELETION; GROWTH RETARDATION; HUMAN; HUMAN TISSUE; HYDROCEPHALUS; KARTAGENER SYNDROME; KIDNEY MALFORMATION; KIDNEY POLYCYSTIC DISEASE; LIMB MALFORMATION; MICROTUBULE; MOUSE; NEPHRONOPHTHISIS; NONHUMAN; OBESITY; OLFACTORY EPITHELIUM; PHENOTYPE; PLEIOTROPY; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN FUNCTION; PROTEIN LOCALIZATION; RESPIRATORY EPITHELIUM; RETINA DEGENERATION; SENSORY NERVE CELL; TRUNCAL OBESITY; TRUNK;

ANIMALS; BARDET-BIEDL SYNDROME; CILIA; HUMANS; MICE; MICROTUBULES; MUTAGENESIS, SITE-DIRECTED; MUTATION; NASAL MUCOSA; NOSE; OLFACTION DISORDERS; PROTEINS;

ANIMALIA; MAMMALIA;

EID: 4444254983     PISSN: 10614036     EISSN: None     Source Type: Journal    
DOI: 10.1038/ng1418     Document Type: Article

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