Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.
about
The dynamic cilium in human diseasesJoubert Syndrome and related disordersExome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingCombining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesisOFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilinCP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary diseaseNephronophthisisDisruption of CEP290 microtubule/membrane-binding domains causes retinal degenerationInvestigating embryonic expression patterns and evolution of AHI1 and CEP290 genes, implicated in Joubert syndromeThe nonmotile ciliopathies.Nephronophthisis and related syndromesGenetic and physical interaction between the NPHP5 and NPHP6 gene productsCiliopathiesCEP290 tethers flagellar transition zone microtubules to the membrane and regulates flagellar protein content.Clinical and molecular features of Joubert syndrome and related disorders.Joubert syndrome: insights into brain development, cilium biology, and complex disease.Nephronophthisis: disease mechanisms of a ciliopathy.Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathiesThe ciliopathies in neuronal development: a clinical approach to investigation of Joubert syndrome and Joubert syndrome-related disorders.Nephronophthisis.Exome capture sequencing identifies a novel mutation in BBS4Identification of 99 novel mutations in a worldwide cohort of 1,056 patients with a nephronophthisis-related ciliopathy.RPGR-containing protein complexes in syndromic and non-syndromic retinal degeneration due to ciliary dysfunction.Senior-Løken syndrome: a syndromic form of retinal dystrophy associated with nephronophthisis.Photoreceptor sensory cilia and ciliopathies: focus on CEP290, RPGR and their interacting proteins.Various facets of vertebrate cilia: motility, signaling, and role in adult neurogenesis.Joubert syndrome: congenital cerebellar ataxia with the molar toothRPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders.Centrosomes and cilia in human disease.Non-syndromic retinal ciliopathies: translating gene discovery into therapy.Primary ciliary dyskinesia: recent advances in epidemiology, diagnosis, management and relationship with the expanding spectrum of ciliopathy.Photoreceptor Cilia and Retinal Ciliopathies.Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290.Gene Therapy Using a miniCEP290 Fragment Delays Photoreceptor Degeneration in a Mouse Model of Leber Congenital Amaurosis.Unraveling the mysteries of pre-mRNA splicing in the retina via stem cell technology.Stem cells with a view: a look inside a retinal ciliopathyStructural basis of the Inv compartment and ciliary abnormalities in Inv/nphp2 mutant mice.Cilia localization is essential for in vivo functions of the Joubert syndrome protein Arl13b/Scorpion.Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypesNGAL as an early biomarker of kidney disease in Joubert syndrome: three brothers compared.
P2860
Q21202039-065752DB-1FDC-4F41-9A8E-AA6A54D53E47Q21202880-8844F549-74B2-48F6-8973-BCA5D091F915Q24294774-2C1A33FF-6E1D-4A16-9D4B-777138BA6906Q24309344-037BC714-0688-421A-9BEC-4B588292F73DQ24320320-628FEF02-0B66-4431-BAA8-9CFEE2BAD63AQ24568058-22A27583-C963-48E0-A9FD-1EBD777489D6Q24601139-F1976535-25ED-422C-AAFF-EE1EFFA768AAQ24617850-A8F1C329-E0F9-482F-9EA4-87D2AABC718DQ27319191-C078224D-93A3-41F5-8882-2F5FC3202E3DQ27967648-E93290E8-1607-4095-BDF9-CA69E0C77DB3Q28081939-5C472C5D-38FD-419C-B362-524A0F2F98C1Q28118065-D841D96A-E874-422A-840D-5984B407C292Q29614821-F5D2DF62-F957-407F-9F68-1371033E11B4Q29614822-06CB03BB-6496-42AC-A14B-C52CB8B99443Q33514006-2A3FA4C9-08B0-4812-8F38-F2EDA961B0F9Q33580854-C89FD768-4142-4A88-B4B6-27CF1DFC5480Q33594278-D7AF73FC-A895-4A4A-BF7F-37821ACC1741Q33682550-D2AA510B-F084-41D7-8BF7-5E088A81AD16Q33934464-1E5985F1-B954-4057-91CC-BC10B781B9C9Q34793373-F3B49793-26B3-4925-99C7-EFCEDB6CB888Q35648444-E9AB6DF6-C96E-4784-B0A1-0CD366DBB62AQ36277070-712C5618-D137-4434-A968-18F5B2174EBDQ36299499-6704A78F-6755-449A-A268-DA5F94DADFE8Q36417359-BC67A1AA-4D07-47A7-AD29-B5853FF66A52Q36585455-14D7FD63-FC69-4C8A-A35F-F252B6B1B1C0Q36753128-ECA01F2D-2902-4B40-AAB8-B730DDFF16BAQ37257283-B371DE45-2628-4D33-8321-BEABB3843DC4Q37364346-E33524C6-FEA3-4CC9-A956-1DF834596A16Q37890619-EC7CBA8A-8CDC-49EB-B292-8FE5BC8213F6Q38030482-BAA332DA-FA64-402B-B81A-39B1482CF5B0Q38066984-99581397-F822-4651-B734-ECE998358D1EQ39176551-D81BFAAA-6B14-4EB7-B9D3-F83B577F9F97Q39480239-88909F6C-6B53-465A-9222-4748A5D34B94Q40134387-0C567F88-284E-4D83-A1E8-8958CF7FFCABQ42370397-D056984E-0734-4AE7-AB3C-56993CE92337Q42370401-EEAF7E93-B3F6-4380-A2C0-B1C5E716C2B8Q42485675-2D7D7FDB-2131-4930-A4A0-C7D3A8C0D128Q42644808-EB5B7B96-D105-4B31-ADB1-A0A386D9BF51Q42648973-4E77A08A-F8FA-4D24-B6E2-F60EDD3A835BQ48703535-5F27F6FE-527F-4F74-ACAF-488E7941F3DF
P2860
Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.
description
2007 nî lūn-bûn
@nan
2007年の論文
@ja
2007年学术文章
@wuu
2007年学术文章
@zh
2007年学术文章
@zh-cn
2007年学术文章
@zh-hans
2007年学术文章
@zh-my
2007年学术文章
@zh-sg
2007年學術文章
@yue
2007年學術文章
@zh-hant
name
Mutation analysis of NPHP6/CEP ...... ome and Senior-Løken syndrome.
@en
Mutation analysis of NPHP6/CEP ...... ome and Senior-Løken syndrome.
@nl
type
label
Mutation analysis of NPHP6/CEP ...... ome and Senior-Løken syndrome.
@en
Mutation analysis of NPHP6/CEP ...... ome and Senior-Løken syndrome.
@nl
prefLabel
Mutation analysis of NPHP6/CEP ...... ome and Senior-Løken syndrome.
@en
Mutation analysis of NPHP6/CEP ...... ome and Senior-Løken syndrome.
@nl
P2093
P2860
P50
P356
P1476
Mutation analysis of NPHP6/CEP ...... ome and Senior-Løken syndrome.
@en
P2093
Friedhelm Hildebrandt
John F O'Toole
Juliana Helou
Melissa A Parisi
Seema Hashmi
Susan J Allen
P2860
P304
P356
10.1136/JMG.2007.052027
P407
P577
2007-07-06T00:00:00Z