生物種
|
リソース名
|
RRC ID
|
タイトル
|
ジャーナル
|
公開日
|
外部リンク
|
線虫
|
tm2452
,
tm925
|
65370
|
Interpreting the pathogenicity of Joubert syndrome missense variants in Caenorhabditis elegans.
|
Dis Model Mech |
2021-1-1 |
Pubmed
Full text
|
線虫
|
tm1830
,
tm324
,
tm925
,
tm2322
,
tm3100
|
53444
|
KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome.
|
Genome Biol |
2015-12-29 |
Pubmed
Full text
|
線虫
|
tm2322
,
tm324
,
tm3100
,
tm2452
,
tm925
|
45941
|
Active transport and diffusion barriers restrict Joubert Syndrome-associated ARL13B/ARL-13 to an Inv-like ciliary membrane subdomain.
|
PLoS Genet |
2013-1-1 |
Pubmed
Full text
|
線虫
|
tm925
,
tm3083
|
45588
|
TMEM107 recruits ciliopathy proteins to subdomains of the ciliary transition zone and causes Joubert syndrome.
|
Nat Cell Biol |
2016-1-1 |
Pubmed
Full text
|