|
source DB |
source ID
|
text
|
size
|
updated at |
|
# proj.
|
|
# Ann.
|
updated_at |
| PubMed |
10716718 |
Abnormal development of Purkinje cells and lymphocytes in Atm mutant mice.
Motor incoordination, immune deficiencies, and an increased risk of cancer are the characteristic features of the hereditary |
1.15 KB |
2015-11-21 |
|
14 |
|
0 |
-
|
| PubMed |
10721669 |
Novel mutations of the ATP7B gene in Japanese patients with Wilson disease.
Wilson disease (WD) is an autosomal recessive disorder characterized by copper accumulation in the liver, brain, kidneys, an |
1.33 KB |
2015-11-15 |
|
19 |
|
0 |
-
|
| PubMed |
10724160 |
Autoinhibition and activation mechanisms of the Wiskott-Aldrich syndrome protein.
The Rho-family GTPase, Cdc42, can regulate the actin cytoskeleton through activation of Wiskott-Aldrich syndrome prote |
1.07 KB |
2015-11-21 |
|
8 |
|
0 |
-
|
| PubMed |
10724175 |
hCds1-mediated phosphorylation of BRCA1 regulates the DNA damage response.
Mutations in the BRCA1 (ref. 1) tumour suppressor gene are found in almost all of the families with inherited breast and ovar |
1.18 KB |
2015-11-21 |
|
9 |
|
0 |
-
|
| PubMed |
10736265 |
Glycerol as a correlate of impaired glucose tolerance: dissection of a complex system by use of a simple genetic trait.
Glycerol kinase (GK) represents the primary entry of glycerol into glucose and t |
2.12 KB |
2015-11-21 |
|
12 |
|
0 |
-
|
| PubMed |
10737980 |
Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described.
X-linked Adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disease. It mainly involves t |
1.3 KB |
2015-11-27 |
|
9 |
|
0 |
-
|
| PubMed |
10737981 |
beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
GM1-gangliosidosis is a lysosomal storage diso |
1.39 KB |
2015-11-15 |
|
19 |
|
0 |
-
|
| PubMed |
10742101 |
In vivo modulation of Hmgic reduces obesity.
The HMGI family of proteins consists of three members, HMGIC, HMGI and HMGI(Y), that function as architectural factors and are essential components of the |
994 Bytes |
2015-11-21 |
|
9 |
|
0 |
-
|
| PubMed |
10746568 |
Molecular analysis of the genotype-phenotype relationship in factor X deficiency.
Factor X deficiency is a rare haemorrhagic condition, normally inherited as an autosomal recessive trait, in which a v |
1.7 KB |
2015-11-15 |
|
11 |
|
0 |
-
|
| PubMed |
10747931 |
Transgenic mice expressing a truncated form of the high mobility group I-C protein develop adiposity and an abnormally high prevalence of lipomas.
Chromosomal translocations in human lipomas frequentl |
1.15 KB |
2015-11-15 |
|
33 |
|
0 |
-
|
