Type | Description |
---|---|
Definition | cystinosis, nephropathic |
Date | Results | Publications |
---|---|---|
2020-10-03 12:51:00 | Interaction between galectin-3 and cystinosin uncovers a pathogenic role of inflammation in kidney involvement of cystinosis. | 30928021 |
2020-02-15 10:28:00 | Loss of CTNS expression is associated with bone loss. | 30794806 |
2017-07-08 10:07:00 | LAMP2A trafficking is regulated by cystinosin, Rab11, and RILP and that CMA up-regulation is a potential clinically relevant mechanism to increase cell survival in cystinosis. | 28465352 |
2016-08-20 10:07:00 | Data indicate that hematopoietic stem cell (HSC) transplantation in cystinosin knockout (Ctns-/-) thyroid drastically decreased cystine accumulation and normalized the thyroid-stimulating hormone level. | 26812160 |
2015-08-22 11:04:00 | Cells and tissues lacking CTNS expression are characterized by increased autophagosome numbers, but functional macroautophagic flux. | 25586965 |
Type | IDs |
---|---|
Synonymous | AI195360, AW049661 |
Gene |
UniProtKB-ID:
CTNS_MOUSE,
Q542U5_MOUSE
UniprotKB:
P57757,
Q542U5
UniParc:
UPI0000001884
EMBL:
AK137143,
AJ250670,
AK054467,
AK079295,
AK170790,
AK078511,
BC005479
Ensembl:
ENSMUSG00000005949
KO:
mmu:83429
|
Nucleutide sequences |
EMBL-CDS:
CAC19455.1,
BAC37316.1,
AAH05479.1,
BAC35789.1,
BAE23249.1,
BAE42030.1,
BAC37598.1
Ensembl_TRS:
ENSMUST00000006103,
ENSMUST00000108476
|
Protein sequencees |
Ensembl_PRO:
ENSMUSP00000006103,
ENSMUSP00000104116
RefSeq:
XP_030102301.1,
XP_006534599.1,
NP_001344820.1,
XP_030102299.1,
XP_011247627.1,
XP_030102300.1,
XP_011247625.1,
NP_112541.1,
XP_006534598.1,
NP_001344821.1
|
Others |
UniRef100:
UniRef100_P57757
UniRef90:
UniRef90_P57757
UniRef50:
UniRef50_P57757
UniGene:
Mm.259852
CCDS:
CCDS25001.1
|
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Refseq |
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