Identification of cryptic splice site, exon skipping, and novel point mutations in type I CD36 deficiency [4]

Journal of Medical Genetics

Volumn 39, Issue 4, 2002, Pages 286-291

  Hanawa, H ^a   Watanabe, K ^a   Nakamura, T ^a   Ogawa, Y ^a   Toba, K ^a   Fuse, I ^a   Kodama, M ^a   Kato, K ^a   Fuse, K ^a   Aizawa, Y ^a  

^a NIIGATA UNIVERSITY   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

CD36 ANTIGEN;

ADULT; AGED; CD36 ANTIGEN DEFICIENCY; CLINICAL ARTICLE; EXON; FEMALE; HEART DISEASE; HUMAN; HYPERTROPHIC CARDIOMYOPATHY; LETTER; MALE; PATHOPHYSIOLOGY; POINT MUTATION; PRIORITY JOURNAL; PROTEIN EXPRESSION;

ADULT; AGED; AGED, 80 AND OVER; ANTIGENS, CD36; CLONING, MOLECULAR; EXONS; FEMALE; GENE AMPLIFICATION; HETEROZYGOTE DETECTION; HUMANS; MALE; MIDDLE AGED; MYOCARDIAL ISCHEMIA; NUCLEIC ACID AMPLIFICATION TECHNIQUES; POINT MUTATION; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; RNA SPLICE SITES; RNA SPLICING; RNA, MESSENGER; SEQUENCE ANALYSIS, DNA;

EID: 18344364467     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Letter

References (28)

1. Membrane glycoprotein CD36: A review of its roles in adherence, signal transduction, and transfusion medicine
2. Analysis of CD36 binding domains: Ligand specificity controlled by dephosphorylation of an ectodomain
3. Identification of a domain (155-183) on CD36 implicated in the phagocytosis of apoptotic neutrophils
4. Identification on human CD36 of a domain (155-183) implicated in binding oxidized low-density lipoproteins (Ox-LDL)
5. Reversible binding of long-chain fatty acids to purified FAT, the adipose CD36 homolog
6. A new platelet-specific antigen, Naka, involved in the refractoriness of HLA-matched platelet transfusion
7. Expression of GPIV and N(aka) antigen on monocytes in N(aka)-negative subjects whose platelets lack GPIV
8. Platelet glycoprotein IV (CD36) deficiency is associated with the absence (type I) or the presence (type II) of glycoprotein IV on monocytes
9. Incidence of the Nak(a)-negative platelet phenotype in African Americans is similar to that of Asians
10. Different patterns of 123I-BMIPP myocardial accumulation in patients with type I and II CD36 deficiency
11. Is CD36 deficiency an etiology of hereditary hypertrophic cardiomyopathy?
12. Transgenic rescue of defective Cd36 ameliorates insulin resistance in spontaneously hypertensive rats
13. Identification of Cd36 (Fat) as an insulin-resistance gene causing defective fatty acid and glucose metabolism in hypertensive rats
14. The role of PPAR-gamma in macrophage differentiation and cholesterol uptake
15. PPAR-gamma dependent and independent effects on macrophage-gene expression in lipid metabolism and inflammation
16. Molecular basis of CD36 deficiency. Evidence that a 478C→T substitution (proline90→serine) in CD36 cDNA accounts for CD36 deficiency
17. Phenotype-genotype correlation in CD36 deficiency types I and II
18. Identification of molecular defects in a subject with type I CD36 deficiency
19. A single nucleotide insertion in codon 317 of the CD36 gene leads to CD36 deficiency
20. Alternatively spliced mRNA molecules of the thrombospondin receptor (CD36) in human PBMC
21. Identification of a human CD36 isoform produced by exon skipping. Conservation of exon organization and pre-mRNA splicing patterns with a CD36 gene family member, CLA-1
22. FBN1 exon 2 splicing error in a patient with Marfan syndrome
23. A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder
24. A carboxyl terminal truncation mutant of CD36 is secreted and binds thrombospondin: Evidence for a single transmembrane domain
25. Type I CD36 deficiency in humans is not associated with insulin resistance syndrome
26. Human CD36 deficiency is associated with elevation in low-density lipoprotein-cholesterol
27. Targeted disruption of the class B scavenger receptor CD36 protects against atherosclerotic lesion development in mice
28. CD36 deficiency has little influence on the pathophysiology of hypertrophic cardiomyopathy