Fine mapping and conditional analysis identify a new mutation in the autoimmunity susceptibility gene BLK that leads to reduced half-life of the BLK protein

Annals of the Rheumatic Diseases

Volumn 71, Issue 7, 2012, Pages 1219-1226

  Delgado Vega, Angélica M ^a   Dozmorov, Mikhail G ^b   Quirós, Manuel Bernal ^c   Wu, Ying Yu ^b   Martínez García, Belén ^c   Kozyrev, Sergey V ^a   Frostegård, Johan ^d   Truedsson, Lennart ^e   De Ramón, Enrique ^f   González Escribano, María F ^g   Ortego Centeno, Norberto ^h   Pons Estel, Bernardo A ⁱ   D'Alfonso, Sandra ^j   Sebastiani, Gian Domenico ^k   Witte, Torsten ^l   Lauwerys, Bernard R ^m   Endreffy, Emoke ⁿ   Kovács, László ^o   Vasconcelos, Carlos ^p   Da Silva, Berta Martins ^p   Wren, Jonathan D ^b   Martin, Javier ^q   Castillejo López, Casimiro ^c   Alarcón Riquelme, Marta E ^b,c   more..

^a UPPSALA UNIVERSITY   (Sweden)

^b OKLAHOMA MEDICAL RESEARCH FOUNDATION   (United States)

^c UNIVERSITY OF GRANADA   (Spain)

^d KAROLINSKA INSTITUTE   (Sweden)

^e LUND UNIVERSITY   (Sweden)

^f HOSPITAL REGIONAL UNIVERSITARIO DE MÁLAGA   (Spain)

^g HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^h HOSPITAL UNIVERSITARIO VIRGEN DE LAS NIEVES   (Spain)

ⁱ Sanatorio Parque   (Argentina)

^j UNIVERSITY OF EASTERN PIEDMONT   (Italy)

^k SAN CAMILLO FORLANINI HOSPITAL   (Italy)

^l HANNOVER MEDICAL SCHOOL   (Germany)

^m CLINIQUES UNIVERSITAIRES SAINT LUC   (Belgium)

ⁿ UNIVERSITY OF SZEGED   (Hungary)

^o UNIVERSITY OF SZEGED   (Hungary)

^p UNIVERSITY OF PORTO   (Portugal)

^q INSTITUTO DE PARASITOLOGÍA Y BIOMEDICINA LÓPEZ NEYRA   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; AMINO ACID; CYCLOHEXIMIDE; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; MESSENGER RNA; PROTEIN BLK; PROTEIN TYROSINE KINASE; THREONINE; TRANSCRIPTION FACTOR RELA; UNCLASSIFIED DRUG;

ALLELE; AMINO ACID SUBSTITUTION; ARTICLE; AUTOIMMUNITY; BINDING SITE; BLK GENE; CELL STRAIN HEK293; CONTROLLED STUDY; EMBRYO; EUROPE; GENE; GENE CONSTRUCT; GENE MAPPING; GENETIC ASSOCIATION; GENETIC CORRELATION; GENETIC RISK; GENETIC SUSCEPTIBILITY; GENETIC TRANSFECTION; GENETIC VARIABILITY; GENOTYPE; HALF LIFE TIME; HAPLOTYPE; HUMAN; HUMAN CELL; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATIONAL ANALYSIS; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; PROTEIN STABILITY; SINGLE NUCLEOTIDE POLYMORPHISM; SYSTEMIC LUPUS ERYTHEMATOSUS; WESTERN BLOTTING; WILD TYPE;

BIOLOGICAL MARKERS; CHROMOSOME MAPPING; GENE EXPRESSION REGULATION, ENZYMOLOGIC; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GENOTYPE; HALF-LIFE; HEK293 CELLS; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC; MUTATION; NF-KAPPA B; POLYMORPHISM, SINGLE NUCLEOTIDE; PROTEIN BINDING; PROTEIN STABILITY; SRC-FAMILY KINASES; TRANSFECTION;

EID: 84862570806     PISSN: 00034967     EISSN: 14682060     Source Type: Journal    
DOI: 10.1136/annrheumdis-2011-200987     Document Type: Article

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