|
source DB |
source ID
|
text
|
size
|
updated at |
|
# proj.
|
|
# Ann.
|
updated_at |
| PubMed |
10888599 |
The fragile X-related proteins FXR1P and FXR2P contain a functional nucleolar-targeting signal equivalent to the HIV-1 regulatory proteins.
Fragile X syndrome is caused by the absence of the fragile X |
1.88 KB |
2015-11-15 |
|
4 |
|
0 |
-
|
| PubMed |
10893263 |
Evidence that dynamin-2 functions as a signal-transducing GTPase.
The role of dynamin GTPases in the regulation of receptor-mediated endocytosis is well established. Here, we present new evidence that |
1.38 KB |
2015-03-12 |
|
3 |
|
0 |
-
|
| PubMed |
10976108 |
RET finger protein is a transcriptional repressor and interacts with enhancer of polycomb that has dual transcriptional functions.
RET finger protein (RFP) belongs to the large B-box RING finger prote |
1.46 KB |
2015-11-21 |
|
23 |
|
0 |
-
|
| PubMed |
10602116 |
Pendred syndrome: phenotypic variability in two families carrying the same PDS missense mutation.
Pendred syndrome comprises congenital sensorineural hearing loss, thyroid goiter, and positive perchlo |
1.23 KB |
2015-11-15 |
|
12 |
|
0 |
-
|
| PubMed |
10607954 |
Knobloch syndrome involving midline scalp defect of the frontal region.
We report on a 4-year-old boy with Knobloch syndrome. He has vitreoretinal degeneration, high myopia, cataract, telecanthus, hyp |
664 Bytes |
2015-11-28 |
|
16 |
|
0 |
-
|
| PubMed |
10615125 |
Mutations in TNFRSF11A, affecting the signal peptide of RANK, cause familial expansile osteolysis.
Familial expansile osteolysis (FEO, MIM 174810) is a rare, autosomal dominant bone disorder character |
1.32 KB |
2015-11-15 |
|
11 |
|
0 |
-
|
| PubMed |
10618304 |
Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit.
BACKGROUND: Mutations in the gene encoding the human cardiac Na(+) channel alpha-subunit (hH1) are responsible f |
1.75 KB |
2015-11-15 |
|
12 |
|
0 |
-
|
| PubMed |
10631148 |
Meiotic segregation analysis of RB1 alleles in retinoblastoma pedigrees by use of single-sperm typing.
In hereditary retinoblastoma, different epidemiological studies have indicated a preferential pat |
1.63 KB |
2015-11-21 |
|
10 |
|
0 |
-
|
| PubMed |
10633128 |
Friedreich ataxia: an overview.
Friedreich ataxia, an autosomal recessive neurodegenerative disease, is the most common of the inherited ataxias. The recent discovery of the gene that is mutated in th |
889 Bytes |
2015-11-15 |
|
12 |
|
0 |
-
|
| PubMed |
10636421 |
X-linked retinoschisis with point mutations in the XLRS1 gene.
BACKGROUND: X-linked retinoschisis (XLRS) is a relatively rare vitreoretinal dystrophy that causes visual loss in young men. Recently, a |
1.52 KB |
2015-11-15 |
|
11 |
|
0 |
-
|
