about
Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisCEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathiesPrickle1 is expressed in distinct cell populations of the central nervous system and contributes to neuronal morphogenesisCiliopathy-associated gene Cc2d2a promotes assembly of subdistal appendages on the mother centriole during cilia biogenesisNull and hypomorph Prickle1 alleles in mice phenocopy human Robinow syndrome and disrupt signaling downstream of Wnt5aRd9 is a naturally occurring mouse model of a common form of retinitis pigmentosa caused by mutations in RPGR-ORF15A long-term efficacy study of gene replacement therapy for RPGR-associated retinal degenerationRegulation of retinal progenitor expansion by Frizzled receptors: implications for microphthalmia and retinal coloboma.Long-term rescue of cone photoreceptor degeneration in retinitis pigmentosa 2 (RP2)-knockout mice by gene replacement therapy.Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.A secreted WNT-ligand-binding domain of FZD5 generated by a frameshift mutation causes autosomal dominant coloboma.Loss of RPGR glutamylation underlies the pathogenic mechanism of retinal dystrophy caused by TTLL5 mutationsNrl knockdown by AAV-delivered CRISPR/Cas9 prevents retinal degeneration in mice.
P50
Q24309344-84F95B59-6370-4040-B617-7A43E142FCEEQ27301023-20350266-4503-4CF0-9E71-1517BE067E85Q28285792-57F0F374-C2E4-4E1E-9117-C3646F868517Q28509507-BEF613E9-12A8-4B86-8459-B6148F365919Q34178790-51513940-B243-4EB9-916A-7ABA670F7B6FQ34260042-4875DA45-4639-40ED-88CC-8E00BB25CF1FQ35766381-93812C44-FECE-4313-B108-3A3BC3CD1A29Q35856253-2A108827-856F-4701-8D6B-871C405F7DA3Q36226969-568FAB64-1B57-46FD-90E6-CBA04EED5FD1Q36585455-B43A6F43-3CF4-40F6-A7F0-D5D0A7978754Q36676827-1D2A4EAD-3EA7-418C-B371-4BCCE362079CQ36957262-1E96F884-4EE0-4AEF-82A8-D6379E80813FQ37707929-E3D80A78-B1E4-4786-AB13-1DAA96389318
P50
name
Tiansen Li
@en
type
label
Tiansen Li
@en
prefLabel
Tiansen Li
@en