Mutations in the deubiquitinase gene usp8 cause cushing’s disease

Nature Genetics

Volumn 47, Issue 1, 2015, Pages 31-38

  Reincke, Martin ^a   Sbiera, Silviu ^a,b   Hayakawa, Akira ^c   Theodoropoulou, Marily ^d   Osswald, Andrea ^a   Beuschlein, Felix ^a   Meitinger, Thomas ^e,f,g   Mizuno Yamasaki, Emi ^c   Kawaguchi, Kohei ^c   Saeki, Yasushi ^h   Tanaka, Keiji ^h   Wieland, Thomas ^e   Graf, Elisabeth ^e   Saeger, Wolfgang ⁱ   Ronchi, Cristina L ^j   Allolio, Bruno ^b   Buchfelder, Michael ^k   Strom, Tim M ^e,f   Fassnacht, Martin ^a,b,j   Komada, Masayuki ^c  

^a UNIVERSITY OF MUNICH   (Germany)

^b UNIVERSITY HOSPITAL WÜRZBURG   (Germany)

^c TOKYO INSTITUTE OF TECHNOLOGY   (Japan)

^d MAX PLANCK INSTITUTE OF PSYCHIATRY   (Germany)

^e INSTITUTE OF EPIDEMIOLOGY   (Germany)

^f TECHNICAL UNIVERSITY OF MUNICH   (Germany)

^g DZHK GERMAN CENTRE FOR CARDIOVASCULAR RESEARCH   (Germany)

^h TOKYO METROPOLITAN INSTITUTE OF MEDICAL SCIENCE   (Japan)

ⁱ UNIVERSITY OF HAMBURG   (Germany)

^j UNIVERSITY OF WÜRZBURG   (Germany)

^k UNIVERSITY HOSPITAL ERLANGEN   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN; EPIDERMAL GROWTH FACTOR RECEPTOR; ESCRT PROTEIN; PROOPIOMELANOCORTIN; PROTEIN 14 3 3; PROTEINASE; TUMOR PROTEIN; UBIQUITIN THIOLESTERASE; USP8 PROTEIN, HUMAN;

ACTH SECRETING ADENOMA; ADENOMA; AMINO ACID SEQUENCE; ANIMAL; BIOSYNTHESIS; CHLOROCEBUS AETHIOPS; COMPARATIVE STUDY; COMPLICATION; COS 1 CELL LINE; CUSHING DISEASE; EXOME; GENE EXPRESSION REGULATION; GENETICS; HUMAN; HYPOPHYSIS TUMOR; METABOLISM; MOLECULAR GENETICS; MUTATION; PHYSIOLOGY; SECRETION (PROCESS); SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY;

14-3-3 PROTEINS; ACTH-SECRETING PITUITARY ADENOMA; ADENOMA; ADRENOCORTICOTROPIC HORMONE; AMINO ACID SEQUENCE; ANIMALS; CERCOPITHECUS AETHIOPS; COS CELLS; ENDOPEPTIDASES; ENDOSOMAL SORTING COMPLEXES REQUIRED FOR TRANSPORT; EXOME; GENE EXPRESSION REGULATION, NEOPLASTIC; HUMANS; MOLECULAR SEQUENCE DATA; MUTATION; NEOPLASM PROTEINS; PITUITARY ACTH HYPERSECRETION; PITUITARY NEOPLASMS; PRO-OPIOMELANOCORTIN; RECEPTOR, EPIDERMAL GROWTH FACTOR; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; UBIQUITIN THIOLESTERASE;

EID: 85028154139     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.3166     Document Type: Article

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