A catalog of 106 single-nucleotide polymorphisms (SNPs) and 11 other types of variations in genes for transforming growth factor-β1 (TGF-β1) and its signaling pathway

Journal of Human Genetics

Volumn 47, Issue 9, 2002, Pages 478-483

  Watanabe, Y ^a,b,d   Kinoshita, A ^a,d   Yamada, T ^a,c,d   Ohta, T ^a,d   Kishino, T ^a,d   Matsumoto, N ^a,d   Ishikawa, M ^b   Niikawa, N ^a,d   Yoshiura, K ^a,d  

^a NAGASAKI UNIVERSITY   (Japan)

^b ASAHIKAWA MEDICAL COLLEGE   (Japan)

^c HOKKAIDO UNIVERSITY   (Japan)

^d JAPAN SCIENCE AND TECHNOLOGY AGENCY   (Japan)

Author keywords

Allele frequency; Single nucleotide polymorphism (SNP); SMADs Japanese population; T Rs; TGF 1; TGF 1 signaling pathway

Indexed keywords

TRANSFORMING GROWTH FACTOR BETA1; TRANSFORMING GROWTH FACTOR BETA2;

ARTICLE; CONTROLLED STUDY; DISEASE PREDISPOSITION; DNA POLYMORPHISM; GENE FREQUENCY; GENE MAPPING; GENETIC VARIABILITY; HUMAN; JAPAN; NUCLEOTIDE SEQUENCE; RECEPTOR GENE; SIGNAL TRANSDUCTION; SINGLE NUCLEOTIDE POLYMORPHISM; SMAD2 GENE; SMAD3 GENE; SMAD4 GENE; SMAD7 GENE; UNINDEXED SEQUENCE;

DNA PRIMERS; DNA-BINDING PROTEINS; EXONS; GENE FREQUENCY; HUMANS; INTRONS; JAPAN; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE NUCLEOTIDE; RECEPTORS, TRANSFORMING GROWTH FACTOR BETA; SIGNAL TRANSDUCTION; SMAD2 PROTEIN; SMAD3 PROTEIN; SMAD4 PROTEIN; SMAD7 PROTEIN; TRANS-ACTIVATORS; TRANSFORMING GROWTH FACTOR BETA; TRANSFORMING GROWTH FACTOR BETA1; VARIATION (GENETICS);

EID: 0036375251     PISSN: 14345161     EISSN: None     Source Type: Journal    
DOI: 10.1007/s100380200069     Document Type: Article

References (21)

1. TGF-β-induced repression of CBFA1 by Smad3 decreases cbfa1 and osteocalcin expression and inhibits osteoblast differentiation
2. Transforming growth factor-beta1 gene polymorphism, bone turnover, and bone mass in Italian postmenopausal women
3. Transforming growth factor-β in disease: The dark side of tissue repair
4. Transforming growth factor β represses the actions of myogenin through a mechanism independent of DNA binding
5. Transforming growth factor-β gene family members and bone
6. Nomenclature for the description of human variations
7. TGF-β signaling in tumor suppression and cancer progression
8. MADR2 maps to 18q21 and encodes a TGFβ-regulated MAD-related protein that is functionally mutated in colorectal carcinoma
9. DPC4, a candidate tumor suppressor gene at human chromosome 18q21.1
10. Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease
11. A dominant inhibitory mutant of the type II transforming growth factor β receptor in the malignant progression of a cutaneous T-cell lymphoma
12. Transforming growth factor β1 null mutation in mice causes excessive inflammatory response and early death
13. TGF-β inhibits muscle differentiation through functional repression of myogenic transcription factors by Smad3
14. TGF-β signal transduction
15. A transforming growth factor β receptor type II gene mutation common in colon and gastric but rare in endometrial cancers with microsatellite instability
16. TGFβ1 allele association with asthma severity
17. Domain-specific mutations of a transforming growth factor (TGF)-β1 latency-associated peptide cause Camurati-Engelmann disease because of the formation of a constitutively active form of TGF-β1
18. DPC4 gene in various tumor types
19. Targeted disruption of the mouse transforming growth factor-β1 gene results in multifocal inflammatory disease
20. Transforming growth factor-β1 inhibition of macrophage activation is mediated via Smad3
21. Transforming growth factor beta-1 gene polymorphism and bone mineral density in Japanese adolescents