Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders

European Journal of Human Genetics

Volumn 19, Issue 5, 2011, Pages 525-533

  Herholz, Jana ^a   Meloni, Alessandra ^b   Marongiu, Mara ^b   Chiappe, Francesca ^b,c   Deiana, Manila ^b   Herrero, Carmen Roche ^d   Zampino, Giuseppe ^e   Hamamy, Hanan ^f   Zalloum, Yusra ^g   Waaler, Per Erik ^h   Crisponi, Giangiorgio ⁱ   Crisponi, Laura ^b   Rutsch, Frank ^a  

^a Department of General Pediatrics   (Germany)

^b CNR   (Italy)

^c UNIVERSITY OF CAGLIARI   (Italy)

^d HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^e CATHOLIC UNIVERSITY   (Italy)

^f GENEVA UNIVERSITY HOSPITALS   (Switzerland)

^g Arab Medical Centre   (Jordan)

^h UNIVERSITY OF BERGEN   (Norway)

ⁱ Casa di Cura Sant'Anna   (Italy)

Author keywords

Cold induced sweating; Crisponi syndrome; CRLF1; Hyperthermia

Indexed keywords

CYTOKINE; PROTEIN CRLF1; STAT3 PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BIOCHEMISTRY; CHILD; CLINICAL ARTICLE; CLINICAL FEATURE; COLD INDUCED SWEATING SYNDROME TYPE 1; CONGENITAL DISORDER; CONTROLLED STUDY; CRISPONI SYNDROME; DISEASE SEVERITY; FEMALE; GENE MUTATION; GENE STRUCTURE; HUMAN; MALE; MUTATIONAL ANALYSIS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; PROTEIN SECRETION; SCHOOL CHILD;

ADOLESCENT; AMINO ACID SEQUENCE; ANIMALS; CERCOPITHECUS AETHIOPS; CHILD; CHILD, PRESCHOOL; COS CELLS; DEATH, SUDDEN; DNA MUTATIONAL ANALYSIS; FACIES; FEMALE; FEVER; HAND DEFORMITIES, CONGENITAL; HUMANS; INFANT; MALE; MUSCLE CONTRACTION; RECEPTORS, CYTOKINE; SEQUENCE ALIGNMENT; TERMINOLOGY AS TOPIC; TRISMUS;

EID: 79955747608     PISSN: 10184813     EISSN: 14765438     Source Type: Journal    
DOI: 10.1038/ejhg.2010.253     Document Type: Article

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