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# proj.
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# Ann.
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updated_at |
| PubMed |
17033974 |
Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.
Retinal signal transmission depends on the activity of high voltage-gated l-type calcium channels |
1.16 KB |
2015-11-23 |
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34 |
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29 |
2021-12-23
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| PubMed |
17273972 |
Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.
Deletion 22q11.2 syndrome is the most frequent known microdeletion syndrome and is associated |
1.11 KB |
2015-11-23 |
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18 |
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13 |
2021-12-23
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| PubMed |
17318851 |
Interferon regulatory factor 6 (IRF6) and fibroblast growth factor receptor 1 (FGFR1) contribute to human tooth agenesis.
Phenotypic characteristics expressed in syndromes give clues to the factors in |
1.5 KB |
2015-12-26 |
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10 |
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23 |
2021-12-23
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| PubMed |
17327131 |
Molecular analysis of the CYP2F1 gene: identification of a frequent non-functional allelic variant.
The CYP2F1 is a human cytochrome P450 that is selectively expressed in lung tissue and involved in t |
1.71 KB |
2015-12-28 |
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11 |
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20 |
2021-12-23
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| PubMed |
17391797 |
The phosphatidylethanolamine N-methyltransferase gene V175M single nucleotide polymorphism confers the susceptibility to NASH in Japanese population.
BACKGROUND/AIMS: The genetic predisposition on the |
1.48 KB |
2015-11-23 |
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12 |
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47 |
2021-12-23
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| PubMed |
17495183 |
Tenomodulin is associated with obesity and diabetes risk: the Finnish diabetes prevention study.
We recently showed that long-term weight reduction changes the gene expression profile of adipose tissu |
1.48 KB |
2025-10-02 |
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15 |
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48 |
2021-12-23
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| PubMed |
17935240 |
Somatic and gonadal mosaicism in X-linked retinitis pigmentosa.
The g.ORF15 + 652-653delAG mutation in the RPGR gene is the most frequent mutation in X-linked retinitis pigmentosa (XLRP). The objectiv |
1.55 KB |
2015-11-23 |
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10 |
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15 |
2021-12-23
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| PubMed |
17962394 |
Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene.
AIMS: This study aimed to identify the underlying genetic defect of a large T |
1.3 KB |
2015-11-23 |
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28 |
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15 |
2021-12-23
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| PubMed |
18408250 |
A single nucleotide polymorphism in the IRF5 promoter region is associated with susceptibility to rheumatoid arthritis in the Japanese population.
OBJECTIVES: Interferon regulatory factor 5 (IRF5) is |
1.87 KB |
2025-10-02 |
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14 |
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32 |
2021-12-23
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| PubMed |
18991055 |
Association between polymorphisms in SLC30A8, HHEX, CDKN2A/B, IGF2BP2, FTO, WFS1, CDKAL1, KCNQ1 and type 2 diabetes in the Korean population.
According to recent genome-wide association studies, a num |
1.55 KB |
2025-10-02 |
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13 |
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51 |
2021-12-23
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