Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients

Human Molecular Genetics

Volumn 23, Issue 17, 2014, Pages 4479-4490

  Callebaut, Isabelle ^a   Joubrel, Rozenn ^b   Pissard, Serge ^c   Kannengiesser, Caroline ^d   Gérolami, Victoria ^e   Ged, Cécile ^f   Cadet, Estelle ^g   Cartault, François ^h   Ka, Chandran ^b   Gourlaouen, Isabelle ^b   Gourhant, Lénaick ⁱ   Oudin, Claire ^d   Goossens, Michel ^c   Grandchamp, Bernard ^d   De Verneuil, Hubert ^f   Rochette, Jacques ^g   Férec, Claude ^b   Le Gac, Gérald ^b,i  

^a UNIVERSITÉ PIERRE ET MARIE CURIE   (France)

^b UNIVERSITÉ DE BRETAGNE OCCIDENTALE   (France)

^c UNIVERSITÉ PARIS EST CRÉTEIL   (France)

^d CENTRE DE RECHERCHE SUR L INFLAMMATION   (France)

^e UNIVERSITÉ DE BORDEAUX   (France)

^f Bordeaux Institute of Oncology   (France)

^g AMIENS UNIVERSITY HOSPITAL   (France)

^h site Centre Hospitalier Félix Guyon   (France)

ⁱ Centre d'Investigation Clinique   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FERRITIN; FERROPORTIN; HLA A ANTIGEN; CATION TRANSPORT PROTEIN; HEPCIDIN; IRON; METAL TRANSPORTING PROTEIN 1;

5' UNTRANSLATED REGION; ADULT; AGED; ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; CAUCASIAN; CELL SURFACE; CELLULAR DISTRIBUTION; CLINICAL ARTICLE; COMPUTER MODEL; CONTROLLED STUDY; DOWN REGULATION; FEMALE; FERRITIN BLOOD LEVEL; GAIN OF FUNCTION MUTATION; GENE EXPRESSION; GENE FREQUENCY; GENOTYPE PHENOTYPE CORRELATION; HEMOCHROMATOSIS; HEMOCHROMATOSIS TYPE 4; HUMAN; HYDROGEN BOND; HYPERFERRITINEMIA; LIPID BILAYER; LOSS OF FUNCTION MUTATION; MALE; MIDDLE AGED; MISSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL; PROTEIN CONFORMATION; PROTEIN DEGRADATION; PROTEIN DOMAIN; PROTEIN STABILITY; RNA SPLICING; YOUNG ADULT; BLOOD; CHEMICAL STRUCTURE; COMPUTER SIMULATION; DEFICIENCY; GENETIC ASSOCIATION; GENETICS; HEK293 CELL LINE; INTRACELLULAR SPACE; METABOLISM; MOLECULAR GENETICS; STRUCTURE ACTIVITY RELATION; TRANSPORT AT THE CELLULAR LEVEL;

ADULT; AGED; AMINO ACID SUBSTITUTION; BIOLOGICAL TRANSPORT; CATION TRANSPORT PROTEINS; COMPUTER SIMULATION; EUROPEAN CONTINENTAL ANCESTRY GROUP; FEMALE; FERRITINS; GENE FREQUENCY; GENETIC ASSOCIATION STUDIES; HEK293 CELLS; HEMOCHROMATOSIS; HEPCIDINS; HUMANS; INTRACELLULAR SPACE; IRON; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE ANNOTATION; MUTATION, MISSENSE; RNA SPLICING; STRUCTURE-ACTIVITY RELATIONSHIP; YOUNG ADULT;

EID: 84903454743     PISSN: 09646906     EISSN: 14602083     Source Type: Journal    
DOI: 10.1093/hmg/ddu160     Document Type: Article

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