| Type | Description |
|---|---|
| Definition | periaxin |
| Date | Results | Publications |
|---|---|---|
| 2017-03-18 11:18:00 | The study identified a variant of periaxin in a Chinese family with congenital cataract by exome sequencing. | 27081207 |
| 2016-12-17 11:48:00 | results offer a possible mechanism to the formation of periaxin complexes, improvement of complex stability, and establishment of a link between the extracellular matrix and the cytoskeleton | 26940996 |
| 2016-10-08 11:03:00 | we were able to simplify this complex phenotype and identified a causative mutation (p.R1070*) in the gene periaxin (PRX), a gene previously shown to cause peripheral neuropathy (Dejerine-Sottas syndrome) when this mutation is present | 26059842 |
| 2014-06-07 10:18:00 | Study of the periaxin gene should be considered in patients with severe demyelinating neuropathy associated with early infantile scoliosis. | 24011642 |
| 2013-04-13 11:31:00 | a variation of clinical phenotypes for CMT4F caused by a novel, nonsense PRX mutation, was shown. | 22847150 |
| Type | IDs |
|---|---|
| Synonymous | CMT4F |
| Gene |
UniProtKB-ID:
PRAX_HUMAN
UniprotKB:
Q9BXM0
UniParc:
UPI000044CC1A,
UPI000002B186,
UPI00027DB7A5
EMBL:
AC010271,
BC067266,
AB046840,
AF321192,
AF321191
Ensembl:
ENSG00000105227
KO:
hsa:57716
|
| Nucleutide sequences |
EMBL-CDS:
BAB13446.1,
AAK19280.1,
AAK19279.1,
AAH67266.1
Ensembl_TRS:
ENST00000673881,
ENST00000291825,
ENST00000324001
|
| Protein sequencees |
Ensembl_PRO:
ENSP00000326018,
ENSP00000291825,
ENSP00000501070
RefSeq:
XP_016882536.1,
XP_011525473.1,
NP_066007.1,
NP_870998.2,
XP_016882535.1
|
| Others |
UniRef100:
UniRef100_Q9BXM0
UniRef90:
UniRef90_Q9BXM0
UniRef50:
UniRef50_Q9BXM0
UniGene:
Hs.205457
CCDS:
CCDS33028.1,
CCDS12556.1
|
| 排名 | 科研单位 | 文献 |
|---|---|---|
| 1 |
University of Edinburgh |
4 |
| 2 |
Baylor College of Medicine |
3 |
| 3 |
Institute of Biotechnology |
2 |
| 4 |
Yamagata University School of Medicine |
2 |
| 5 |
University of Southern Denmark |
1 |
| 排名 | 研究人员 | 文献 |
|---|---|---|
| 1 |
P J Brophy |
6 |
| 2 |
D L Sherman |
5 |
| 3 |
C S Gillespie |
3 |
| 4 |
Hiroshi Takashima |
3 |
| 5 |
Ursula Skalska |
2 |