论文信息 - CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. - 字舞流文

CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.

Carolyn M Hutter | Edwin W Rubel | Michael Dorschner | Nicholas Katsanis | Friedhelm Hildebrandt | Karlien L M Coene | E. Zackai | J. Vincent | D. Raible | M. Dorschner | I. Glass | S. Letteboer | R. Roepman | E. Rubel | N. Katsanis | C. Hutter | K. Coene | F. Hildebrandt | E. Otto | P. Chance | M. Parisi | D. Doherty | N. Knoers | C. Moens | T. Bammler | E. Davis | D. Mans | S. V. van Beersum | H. Arts | Cecilia B Moens | John B Vincent | Elaine H Zackai | Erica E Davis | M. Eckert | Nine V A M Knoers | Theo K Bammler | Nicholas T Gorden | Heleen H Arts | Melissa A Parisi | Stef J F Letteboer | Sylvia E C van Beersum | Dorus A Mans | Abigail Hikida | Melissa Eckert | Dana Knutzen | Abdulrahman F Alswaid | Hamit Ozyurek | Sel Dibooglu | Edgar A Otto | Yangfan Liu | Frederico M Farin | Meral Topçu | Phillip Rosenthal | Kelly N Owens | David W Raible | Phillip F Chance | Ronald Roepman | Ian A Glass | Dan Doherty | F. Farin | A. Alswaid | Yangfan P. Liu | H. Ozyurek | D. Knutzen | N. Gorden | K. Owens | D. A. Mans | M. Topçu | P. Rosenthal | A. Hikida | Selin Dibooğlu | E. Davis

[1] Enza Maria Valente,et al. Joubert Syndrome and related disorders , 2010, Orphanet journal of rare diseases.

[2] Colin A. Johnson,et al. Jouberin localizes to collecting ducts and interacts with nephrocystin-1. , 2008, Kidney international.

[3] Colin A. Johnson,et al. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. , 2008, American journal of human genetics.

[4] L. Peltonen,et al. Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. , 2008, American journal of human genetics.

[5] Andrew D Paterson,et al. CC2D2A, encoding a coiled-coil and C2 domain protein, causes autosomal-recessive mental retardation with retinitis pigmentosa. , 2008, American journal of human genetics.

[6] R. Lewis,et al. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome , 2008, Nature Genetics.

[7] D. Raible,et al. Identification of Genetic and Chemical Modulators of Zebrafish Mechanosensory Hair Cell Death , 2008, PLoS genetics.

[8] M. Adams,et al. Recent advances in the molecular pathology, cell biology and genetics of ciliopathies , 2008, Journal of Medical Genetics.

[9] M. Brent. Steady progress and recent breakthroughs in the accuracy of automated genome annotation , 2008, Nature Reviews Genetics.

[10] Erich A. Nigg,et al. Cep164, a novel centriole appendage protein required for primary cilium formation , 2007, The Journal of cell biology.

[11] C. Antignac,et al. Evidence of oligogenic inheritance in nephronophthisis. , 2007, Journal of the American Society of Nephrology : JASN.

[12] Colin A. Johnson,et al. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. , 2007, American journal of human genetics.

[13] I. Glass,et al. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome , 2007, Nature Genetics.

[14] Colin A. Johnson,et al. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome , 2007, Nature Genetics.

[15] D. Raible,et al. Ultrastructural analysis of aminoglycoside‐induced hair cell death in the zebrafish lateral line reveals an early mitochondrial response , 2007, The Journal of comparative neurology.

[16] I. Glass,et al. PRACTICAL GENETICS In association with Joubert syndrome ( and related disorders , 2007 .

[17] Colin A. Johnson,et al. The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. , 2007, Human molecular genetics.

[18] Colin A. Johnson,et al. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. , 2007, American journal of human genetics.

[19] R. Roepman,et al. Protein networks and complexes in photoreceptor cilia. , 2007, Sub-cellular biochemistry.

[20] Adrian Gherman,et al. The ciliary proteome database: an integrated community resource for the genetic and functional dissection of cilia , 2006, Nature Genetics.

[21] T. Meitinger,et al. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. , 2006, American journal of human genetics.

[22] Nicholas Katsanis,et al. The ciliopathies: an emerging class of human genetic disorders. , 2006, Annual review of genomics and human genetics.

[23] Yan Liu,et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 , 2006, Nature Genetics.

[24] Madeline A. Lancaster,et al. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome , 2006, Nature Genetics.

[25] S. Fisher,et al. Dissection of epistasis in oligogenic Bardet–Biedl syndrome , 2006, Nature.

[26] I. Glass,et al. AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome , 2005, Journal of Medical Genetics.

[27] Keith A. Boroevich,et al. Functional Genomics of the Cilium, a Sensory Organelle , 2005, Current Biology.

[28] J. Szostak,et al. Scanning the human proteome for calmodulin-binding proteins , 2005, Proceedings of the National Academy of Sciences of the United States of America.

[29] A. Schier,et al. Cilia-driven fluid flow in the zebrafish pronephros, brain and Kupffer's vesicle is required for normal organogenesis , 2005, Development.

[30] Gary Ruvkun,et al. Analysis of xbx genes in C. elegans , 2005, Development.

[31] R. Reinhardt,et al. Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin , 2005, Nature Genetics.

[32] Bethan E. Hoskins,et al. Loss of BBS proteins causes anosmia in humans and defects in olfactory cilia structure and function in the mouse , 2004, Nature Genetics.

[33] I. Glass,et al. The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. , 2004, American journal of human genetics.

[34] Shankar Subramaniam,et al. Decoding Cilia Function Defining Specialized Genes Required for Compartmentalized Cilia Biogenesis , 2004, Cell.

[35] M. Mann,et al. Proteomic characterization of the human centrosome by protein correlation profiling , 2003, Nature.

[36] T. Strachan,et al. Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination , 2003, Nature Genetics.

[37] Steven Henikoff,et al. SIFT: predicting amino acid changes that affect protein function , 2003, Nucleic Acids Res..

[38] P Gissen,et al. Molecular pathology and genetics of congenital hepatorenal fibrocystic syndromes , 2003, Journal of medical genetics.

[39] Kyoko Takano,et al. Cerebellar and brainstem involvement in familial juvenile nephronophthisis type I. , 2003, Pediatric neurology.

[40] P. Bork,et al. Human non-synonymous SNPs: server and survey. , 2002, Nucleic acids research.

[41] Bethan E. Hoskins,et al. Triallelic Inheritance in Bardet-Biedl Syndrome, a Mendelian Recessive Disorder , 2001, Science.

[42] T. L. McGee,et al. Null RPGRIP1 alleles in patients with Leber congenital amaurosis. , 2001, American journal of human genetics.

[43] C. Antignac,et al. Hypoplasies vermiennes avec atteintes extracérébrales (rétine, rein, foie) : des syndromes difficiles à classerCerebellar vermis hypoplasias with extracerebral involvement (retina, kidney, liver): difficult to classify syndromes. , 2001 .

[44] C. Antignac,et al. [Cerebellar vermis hypoplasia with extracerebral involvement (retina, kidney, liver): difficult to classify syndromes]. , 2001, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

[45] P. Beales,et al. New criteria for improved diagnosis of Bardet-Biedl syndrome: results of a population survey , 1999, Journal of medical genetics.

[46] A. Verloes,et al. Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. , 1989, American journal of medical genetics.

[47] E S Lander,et al. Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. , 1987, Science.

[48] G. Piperno,et al. Monoclonal antibodies specific for an acetylated form of alpha-tubulin recognize the antigen in cilia and flagella from a variety of organisms , 1985, The Journal of cell biology.

[49] J. Sutter. American Society of Human Genetics. - The American Journal of Human Genetics , 1950 .