Mutations in CSTA, encoding cystatin A, underlie exfoliative ichthyosis and reveal a role for this protease inhibitor in cell-cell adhesion

American Journal of Human Genetics

Volumn 89, Issue 4, 2011, Pages 564-571

  Blaydon, Diana C ^a   Nitoiu, Daniela ^a   Eckl, Katja Martina ^b   Cabral, Rita M ^a   Bland, Philip ^a   Hausser, Ingrid ^c   Van Heel, David A ^a   Rajpopat, Shefali ^a   Fischer, Judith ^d,e   Oji, Vinzenz ^f   Zvulunov, Alex ^g,h   Traupe, Heiko ^f   Hennies, Hans Christian ^b,i   Kelsell, David P ^a  

^a QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^b UNIVERSITY OF COLOGNE   (Germany)

^c UNIVERSITY HOSPITAL HEIDELBERG   (Germany)

^d UNIVERSITY OF FREIBURG   (Germany)

^e UNIVERSITY OF FREIBURG   (Germany)

^f UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^g SCHNEIDER CHILDREN S MEDICAL CENTER OF ISRAEL   (Israel)

^h BEN GURION UNIVERSITY OF THE NEGEV   (Israel)

ⁱ UNIVERSITY OF COLOGNE   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

STEFIN A;

ARTICLE; CELL ADHESION; GENE FUNCTION; GENETIC ANALYSIS; GENETIC CODE; GENETIC PREDISPOSITION; HUMAN; ICHTHYOSIS; KERATINOCYTE; LOSS OF FUNCTION MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; SEQUENCE ANALYSIS; SKIN BIOPSY; SPLICING DEFECT;

AMINO ACID SEQUENCE; BASE SEQUENCE; CELL ADHESION; CYSTATIN A; EPIDERMIS; FAMILY HEALTH; FEMALE; FOOT; GENOME; HOMOZYGOTE; HUMANS; ICHTHYOSIS; MALE; MODELS, GENETIC; MOLECULAR SEQUENCE DATA; MUTATION; PEDIGREE; PROTEASE INHIBITORS; SEQUENCE HOMOLOGY, AMINO ACID; STRESS, MECHANICAL;

SOLEIDAE;

EID: 80053917246     PISSN: 00029297     EISSN: 15376605     Source Type: Journal    
DOI: 10.1016/j.ajhg.2011.09.001     Document Type: Article

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