Genetic deficiency of tartrate-resistant acid phosphatase associated with skeletal dysplasia, cerebral calcifications and autoimmunity

Nature Genetics

Volumn 43, Issue 2, 2011, Pages 132-137

  Lausch, Ekkehart ^a   Janecke, Andreas ^b   Bros, Matthias ^c   Trojandt, Stefanie ^c   Alanay, Yasemin ^d   De Laet, Corinne ^e   Hübner, Christian A ^f   Meinecke, Peter ^g   Nishimura, Gen ^h   Matsuo, Mari ⁱ   Hirano, Yoshiko ⁱ   Tenoutasse, Sylvie ^e   Kiss, Andrea ^j   MacHado Rosa, Rafael Fabiano ^j   Unger, Sharon L ^k   Renella, Raffaele ^l,m   Bonafé, Luisa ^m   Spranger, Jürgen ^a   Unger, Sheila ^a,m   Zabel, Bernhard ^a   Superti Furga, Andrea ^a,m   more..

^a UNIVERSITY OF FREIBURG   (Germany)

^b INNSBRUCK MEDICAL UNIVERSITY   (Austria)

^c JOHANNES GUTENBERG UNIVERSITY   (Germany)

^d HACETTEPE UNIVERSITY   (Turkey)

^e HOP UNIV DES ENFANTS REINE FABIOLA   (Belgium)

^f JENA UNIVERSITY HOSPITAL   (Germany)

^g Altonaer Kinderkrankenhaus   (Germany)

^h TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

ⁱ TOKYO WOMEN'S MEDICAL UNIVERSITY   (Japan)

^j UNIVERSIDADE FEDERAL DE CIÊNCIAS DA SAÚDE DE PORTO ALEGRE   (Brazil)

^k UNIVERSITY OF TORONTO   (Canada)

^l BOSTON CHILDREN S HOSPITAL   (United States)

^m LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ACID PHOSPHATASE TARTRATE RESISTANT ISOENZYME; GAMMA INTERFERON; INTERLEUKIN 10; INTERLEUKIN 12; INTERLEUKIN 13; MESSENGER RNA; OSTEOPONTIN; TUMOR NECROSIS FACTOR ALPHA;

ACP5 GENE; AUTOIMMUNITY; BONE DYSPLASIA; BRAIN CALCIFICATION; CELL PROLIFERATION; CELL STIMULATION; CHROMOSOME 19P; ENZYME ACTIVITY; GENE EXPRESSION; GENE LOCUS; GENE MAPPING; GENE MUTATION; GENETIC ASSOCIATION; HUMAN; IMMUNOPHENOTYPING; LINKAGE ANALYSIS; MUTATOR GENE; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN FUNCTION; PROTEIN PHOSPHORYLATION; PROTEIN PROCESSING; REVIEW; SEQUENCE ANALYSIS; SIGNAL TRANSDUCTION; SPONDYLOENCHONDRODYSPLASIA; SYSTEMIC LUPUS ERYTHEMATOSUS; T LYMPHOCYTE; TH1 CELL;

ACID PHOSPHATASE; AUTOIMMUNE DISEASES; AUTOIMMUNITY; BONE AND BONES; BONE DISEASES, DEVELOPMENTAL; BRAIN; CALCIUM; CHILD; GENETIC PREDISPOSITION TO DISEASE; HOMOZYGOTE; HUMANS; ISOENZYMES; MALE; MUTATION; OSTEOCHONDRODYSPLASIAS; OSTEOPONTIN; PHOSPHORYLATION;

EID: 79251564299     PISSN: 10614036     EISSN: 15461718     Source Type: Journal    
DOI: 10.1038/ng.749     Document Type: Review

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