The human cystatin C gene (CST3), mutated in hereditary cystatin C amyloid angiopathy, is located on chromosome 20

Human Genetics

Volumn 82, Issue 3, 1989, Pages 223-226

  Abrahamson, Magnus ^a   Quamrul Islam, M ^b   Szpirer, Josiane ^c   Szpirer, Claude ^c   Levan, Göran ^b  

^a LUND UNIVERSITY   (Sweden)

^b UNIVERSITY OF GOTHENBURG   (Sweden)

^c UNIVERSITÉ LIBRE DE BRUXELLES   (Belgium)

Author keywords

[No Author keywords available]

Indexed keywords

AMYLOID; CYSTATIN C;

CELL CULTURE; CHROMOSOME 20; CYTOLOGY; DNA PROBE; GENE ASSIGNMENT; GENE LOCATION; GENETIC ENGINEERING; HEREDITY; HUMAN; HUMAN CELL; MUTATION; NORMAL VALUE; PRIORITY JOURNAL; VASCULAR AMYLOIDOSIS;

AMYLOIDOSIS; ANIMAL; BLOTTING, SOUTHERN; CEREBRAL ARTERIAL DISEASES; CHROMOSOME MAPPING; CHROMOSOMES, HUMAN, PAIR 20; DNA; DNA PROBES; HUMAN; HYBRID CELLS; MICE; MUTATION; POLYMORPHISM, RESTRICTION FRAGMENT LENGTH; PROTEASE INHIBITORS; PROTEINS; RATS; SUPPORT, NON-U.S. GOV'T;

EID: 0024338979     PISSN: 03406717     EISSN: 14321203     Source Type: Journal    
DOI: 10.1007/BF00291159     Document Type: Article

References (31)

1. Isolation of six cysteine proteinase inhibitors from human urine: their physicochemical and enzyme kinetic properties and concentrations in biological fluids
2. Molecular cloning and sequence analysis of cDNA coding for the precursor of the human cysteine proteinase inhibitor cystatin C
3. Efficient production of native, biologically active human cystatin C by Escherichia coli
4. The place of human γ-trace (cystatin C) amongst the cysteine proteinase inhibitors
5. Cysteine proteinase inhibitors of the cystatin superfamily
6. A general method for isolation of high molecular weight DNA from eucaryotes
7. Protein inhibitors of cysteine proteinases. I. Isolation and characterization of stefin, a cytosolic protein inhibitor of cysteine proteinases from human polymorfonuclear granulocytes
8. Post-γ-globulin isolation and physicochemical characterization
9. Amyloid fibril in hereditary cerebral hemorrhage with amyloidosis (HCHWA) is related to the gastro-entero-pancreatic neuroendocrine protein, γ-trace
10. In vivo and in vitro evidence for the involvement of cysteine proteinases in bone resorption
11. Amyloid fibrils in hereditary cerebral hemorrhage with amyloidosis of Icelandic type is a variant of γ-trace basic protein (cystatin C)
12. Cystatinlike cysteine proteinase inhibitors from human liver
13. Human γ-trace: structure, function and clinical use of concentration measurements
14. Trace proteins in biological fluids. IV. Physicochemical properties and sites of formation of γ-trace and β-trace proteins
15. Isolation and amino-acid sequence of SAP-1, an acidic protein of human whole saliva, and sequence homology with human γ-trace
16. Characterization of a new cysteine proteinase inhibitor of human saliva, cystatin SN, which is immunologically related to cystatin S
17. Characterization and amino acid sequence of a new acidic cysteine proteinase inhibitor (cystatin SA) structurally closely related to cystatin S, from human whole saliva
18. A new fixation procedure for improved quality G-bands in routine cytogenetic work
19. Purification and some characteristics of the human epidermal SH-protease inhibitor
20. Human spleen cysteine proteinase inhibitor Purification fractionation into isoelectric variants and some properties of the variants
21. Functional shares of cathepsins B, H and L in autophagy and heterophagy
22. Human brain cortical neurons contain γ-trace. Rapid isolation, immunohistochemical and physicochemical characterization of human γ-trace
23. Immunohistochemical characterization of the amyloid deposits and quantitation of pertinent cerebrospinal fluid proteins in hereditary cerebral hemorrhage with amyloidosis
24. Preferential action of rat brain cathepsin B as a peptidyl dipeptidase converting pro-opioid oligopeptides
25. Kininogens revisited
26. Mutation in cystatin C gene causes hereditary brain hemorrhage
27. Human cysteineproteinase inhibitors: nucleotide sequence analysis of three members of the cystatin gene family
28. Cysteine proteinases and metastasis
29. Detection of specific sequences among DNA fragments separated by gel electrophoresis
30. Coexistence of renin and cathepsin B in epithelioid cell secretory granules
31. Cloning and chromosomal location of human genes inducible by type I interferon