Mammal-restricted elements predispose human RET to folding impairment by HSCR mutations

Nature Structural and Molecular Biology

Volumn 17, Issue 6, 2010, Pages 726-731

  Kjær, Svend ^a   Hanrahan, Sarah ^a   Totty, Nick ^a   McDonald, Neil Q ^a,b  

^a IMPERIAL CANCER RESEARCH FUND   (United Kingdom)

^b UNIVERSITY OF LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CADHERIN; CADHERIN LIKE DOMAIN 1; CADHERIN LIKE DOMAIN 2; CYSTEINE; DIMER; DISULFIDE; THIOL DERIVATIVE; UNCLASSIFIED DRUG;

ARTICLE; CLADISTICS; CONCEPTUAL FRAMEWORK; DISEASE SEVERITY; ENDOPLASMIC RETICULUM; GENE; GENOTYPE; GENOTYPE PHENOTYPE CORRELATION; HIRSCHSPRUNG DISEASE; HUMAN; HUMAN CELL; MISSENSE MUTATION; PRIORITY JOURNAL; REARRANGED DURING TRANSFECTION GENE;

AMINO ACID SEQUENCE; ANIMALS; CYSTEINE; ENDOPLASMIC RETICULUM; GENETIC ASSOCIATION STUDIES; HIRSCHSPRUNG DISEASE; HUMANS; MAMMALS; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PHYLOGENY; PROTEIN FOLDING; PROTEIN INTERACTION DOMAINS AND MOTIFS; PROTEIN MULTIMERIZATION; PROTEIN PROCESSING, POST-TRANSLATIONAL; PROTO-ONCOGENE PROTEINS C-RET; SEQUENCE HOMOLOGY, AMINO ACID; STATIC ELECTRICITY;

BIVALVIA; MAMMALIA; VERTEBRATA;

EID: 77953288298     PISSN: 15459993     EISSN: 15459985     Source Type: Journal    
DOI: 10.1038/nsmb.1808     Document Type: Article

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