Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.
about
Human basal body basicsCSPP-L Associates with the Desmosome of Polarized Epithelial Cells and Is Required for Normal Spheroid FormationKIAA0556 is a novel ciliary basal body component mutated in Joubert syndromeNew frontiers: discovering cilia-independent functions of cilia proteinsAdvances in Skeletal Dysplasia GeneticsGenetics and genomic medicine in Saudi ArabiaMurine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisisA founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies.Large-scale targeted sequencing comparison highlights extreme genetic heterogeneity in nephronophthisis-related ciliopathiesMitotic Protein CSPP1 Interacts with CENP-H Protein to Coordinate Accurate Chromosome Oscillation in MitosisJoubert Syndrome in French Canadians and Identification of Mutations in CEP104Mutation spectrum of Joubert syndrome and related disorders among Arabs.Meckel-Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in EuropeMutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypesMKS1 regulates ciliary INPP5E levels in Joubert syndrome.Unmasking the ciliopathies: craniofacial defects and the primary cilium.Photoreceptor Cilia and Retinal Ciliopathies.Molecular genetic analysis of 30 families with Joubert syndrome.Development of a diagnostic DNA chip to screen for 30 autosomal recessive disorders in the Hutterite populationIdentification of a novel MKS locus defined by TMEM107 mutation.Meckel-Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances.Primary cilia proteins: ciliary and extraciliary sites and functions.Specific retinal phenotype in early IQCB1-related disease.A nonsense mutation in CEP55 defines a new locus for a Meckel-like syndrome, an autosomal recessive lethal fetal ciliopathy.Genetic characterization and disease mechanism of retinitis pigmentosa; current scenario.Intrafamilial clinical heterogeneity of CSPP1-related ciliopathy.Disease-Associated Mutations in CEP120 Destabilize the Protein and Impair Ciliogenesis.A further family of Stromme syndrome carrying CENPF mutation
P2860
Q26765127-2B993527-C485-49D1-B415-8A4AD849825FQ27301019-0FE51710-BCBF-4E1D-B4D1-281B3AA9B182Q27336381-F29B618C-3757-40AA-B952-18177E539518Q28081713-A3620036-4E78-489B-ACC2-7D13831A1B30Q28261525-5626EFBD-B077-4D7D-91A9-C974BEDE56A5Q28654826-D3E7C9FD-6A5F-4245-9D1C-F1F1D73E1146Q33919616-3B8452DD-6C6D-45C5-9938-F51C3615F725Q35063169-8FD51D3F-1CC2-48F8-B744-A70A1C18AFEAQ35870349-C681F014-FDC5-4DEC-B282-0B30D14F5BDCQ36283898-87A1150D-C6B9-4944-9D92-8DE9DD5FC35DQ36339758-E1F00C11-D5BF-4631-A60E-0ECB045E81D1Q36671126-517838A1-8DB5-471F-B3CA-0DA9884B460DQ36695145-E2C990B0-3C57-45E2-816C-99048E8C95C8Q37235765-94C5F4BF-50C9-4F02-B366-CB9050B7D953Q37331333-898DE258-B085-4729-A5D1-4FA253E4B351Q38546971-773B31D3-F935-4568-9EEE-5DDCC5FBCB82Q39176551-06D7E7F1-3F8C-4097-8511-DF145A10686BQ40643638-7D0E76D4-18AA-4DF3-B07D-82B561CABA7EQ41969459-84885F15-836D-49CE-AF4C-A4A6D50FCC12Q46434440-919077D9-F910-426D-A6AF-C6DEC99DB051Q47160334-C1A0DF7F-C419-4C0D-BFC9-9349DE237EFDQ47228439-DC29776B-6094-4DE2-A33B-143D170985D2Q47567648-691F4224-003C-40CB-80CA-600C8F602E25Q48126211-BE7DD0BC-8177-4F7F-9C9D-F49D7051F68FQ53155688-74D93D25-275B-4759-8505-4E9A6961167CQ53497976-9E85845C-A8E1-4CC9-8AFD-92A467D8BD2DQ55003855-D0D91CC1-8878-44BC-AAD0-A7A57D16A517Q57096776-A905142A-5541-448D-8E4D-C169B48DB0F9
P2860
Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans.
description
2013 nî lūn-bûn
@nan
2013 թուականի Դեկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի դեկտեմբերին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
Mutations in CSPP1, encoding a ...... liopathy phenotypes in humans.
@ast
Mutations in CSPP1, encoding a ...... liopathy phenotypes in humans.
@en
Mutations in CSPP1, encoding a ...... liopathy phenotypes in humans.
@nl
type
label
Mutations in CSPP1, encoding a ...... liopathy phenotypes in humans.
@ast
Mutations in CSPP1, encoding a ...... liopathy phenotypes in humans.
@en
Mutations in CSPP1, encoding a ...... liopathy phenotypes in humans.
@nl
prefLabel
Mutations in CSPP1, encoding a ...... liopathy phenotypes in humans.
@ast
Mutations in CSPP1, encoding a ...... liopathy phenotypes in humans.
@en
Mutations in CSPP1, encoding a ...... liopathy phenotypes in humans.
@nl
P2093
P2860
P50
P1476
Mutations in CSPP1, encoding a ...... liopathy phenotypes in humans.
@en
P2093
A Micheil Innes
Albert E Chudley
Bernard N Chodirker
Catrina M Loucks
Colin A Johnson
Coralie Poizat
Erica E Davis
Hanan E Shamseldin
Jacek Majewski
Jillian Parboosingh
P2860
P356
10.1016/J.AJHG.2013.11.010
P407
P577
2013-12-19T00:00:00Z