CD2-associated protein haploinsufficiency is linked to glomerular disease susceptibility

Science

Volumn 300, Issue 5623, 2003, Pages 1298-1300

  Kim, Jeong H ^a   Wu, Hui ^a   Green, Gopa ^a   Winkler, Cheryl A ^b   Kopp, Jeffrey B ^c   Miner, Jeffrey H ^a   Unanue, Emil R ^a   Shawl, Andrey S ^a  

^a WASHINGTON UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b NATIONAL CANCER INSTITUTE   (United States)

^c NATIONAL INSTITUTE OF DIABETES AND DIGESTIVE AND KIDNEY DISEASES   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ANTIBODIES; BIOLOGICAL ORGANS; ELECTRON MICROSCOPY; IMMUNOLOGY; PATIENT MONITORING;

INTRACELLULAR DEGRADATION;

PROTEINS;

CD2 ASSOCIATED PROTEIN; GENE PRODUCT; UNCLASSIFIED DRUG;

BIOCHEMISTRY; MEDICINE; PROTEIN;

ALLELE; ANIMAL EXPERIMENT; ANIMAL MODEL; ANIMAL TISSUE; ANTIGEN ANTIBODY COMPLEX; ARTICLE; CELL VACUOLE; CONTROLLED STUDY; DEATH; DISEASE PREDISPOSITION; ELECTRON MICROSCOPY; GENE EXPRESSION; GENE MUTATION; GENETIC LINKAGE; GLOMERULOPATHY; GLOMERULOSCLEROSIS; GLOMERULUS FILTRATION; HAPLOIDY; IMMUNOGLOBULIN DEPOSITION; MOUSE; NEPHROTOXICITY; NONHUMAN; PODOCYTE; PRIORITY JOURNAL; PROTEIN BINDING; PROTEIN DEGRADATION; PROTEIN FUNCTION; SRC HOMOLOGY DOMAIN;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ANIMALS; ANTIGEN-ANTIBODY COMPLEX; BASEMENT MEMBRANE; CHROMATOGRAPHY, HIGH PRESSURE LIQUID; CYTOSKELETAL PROTEINS; ENDOCYTOSIS; EPITHELIAL CELLS; EXONS; FERRITINS; GENETIC PREDISPOSITION TO DISEASE; GLOMERULAR MESANGIUM; GLOMERULOSCLEROSIS, FOCAL SEGMENTAL; HETEROZYGOTE; HUMANS; IMMUNOGLOBULINS; KIDNEY DISEASES; KIDNEY GLOMERULUS; MICE; MICE, KNOCKOUT; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, GENETIC; PROTEINS; PROTEINURIA; RNA SPLICING; VARIATION (GENETICS);

ANIMALIA; GLOMERULUS;

EID: 0038136885     PISSN: 00368075     EISSN: None     Source Type: Journal    
DOI: 10.1126/science.1081068     Document Type: Article

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24. We dedicate this manuscript to the memory of Dr. Ramzi Cotran, who was the first to note changes in the heterozygous mice and whose ideas about the meaning of these changes inspired us in the early days of this work. We thank C. Li, A. Towne, and J. Wang for technical assistance; P. Goodfellow and A. Bowcock for help with genetic screening; M. Levy for help with electron microscopy; D. Kerjaschki for helpful suggestions; and W. A. Briggs III, R. A. Dart, S. M. Korbet, M. Mokrzycki, P. L. Kimmel, J. R. Schelling, T. S. Ahuja, J. S. Berns, M. C. Smith, E. E. Simon, and H. Trachtman for providing DNA samples. Supported by grants from the National Institute of Diabetes and Digestive and Kidney Diseases.