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Similarity
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4.
John A Sayer, Edgar A Otto, John F O'Toole, Gudrun Nurnberg, Michael A Kennedy, Christian Becker, Hans Christian Hennies, Juliana Helou, Massimo Attanasio, Blake V Fausett,[...]. Nat Genet 2006
John A Sayer, Edgar A Otto, John F O'Toole, Gudrun Nurnberg, Michael A Kennedy, Christian Becker, Hans Christian Hennies, Juliana Helou, Massimo Attanasio, Blake V Fausett,[...]. Nat Genet 2006
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Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome.
Enza Maria Valente, Jennifer L Silhavy, Francesco Brancati, Giuseppe Barrano, Suguna Rani Krishnaswami, Marco Castori, Madeline A Lancaster, Eugen Boltshauser, Loredana Boccone, Lihadh Al-Gazali,[...]. Nat Genet 2006
Enza Maria Valente, Jennifer L Silhavy, Francesco Brancati, Giuseppe Barrano, Suguna Rani Krishnaswami, Marco Castori, Madeline A Lancaster, Eugen Boltshauser, Loredana Boccone, Lihadh Al-Gazali,[...]. Nat Genet 2006
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Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis.
Anneke I den Hollander, Robert K Koenekoop, Suzanne Yzer, Irma Lopez, Maarten L Arends, Krysta E J Voesenek, Marijke N Zonneveld, Tim M Strom, Thomas Meitinger, Han G Brunner,[...]. Am J Hum Genet 2006
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Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.
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Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype.
Isabelle Perrault, Nathalie Delphin, Sylvain Hanein, Sylvie Gerber, Jean-Louis Dufier, Olivier Roche, Sabine Defoort-Dhellemmes, Hélène Dollfus, Elisa Fazzi, Arnold Munnich,[...]. Hum Mutat 2007
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CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290.
Nicholas T Gorden, Heleen H Arts, Melissa A Parisi, Karlien L M Coene, Stef J F Letteboer, Sylvia E C van Beersum, Dorus A Mans, Abigail Hikida, Melissa Eckert, Dana Knutzen,[...]. Am J Hum Genet 2008
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The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Marion Delous, Lekbir Baala, Rémi Salomon, Christine Laclef, Jeanette Vierkotten, Kàlmàn Tory, Christelle Golzio, Tiphanie Lacoste, Laurianne Besse, Catherine Ozilou,[...]. Nat Genet 2007
Marion Delous, Lekbir Baala, Rémi Salomon, Christine Laclef, Jeanette Vierkotten, Kàlmàn Tory, Christelle Golzio, Tiphanie Lacoste, Laurianne Besse, Catherine Ozilou,[...]. Nat Genet 2007
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The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome.
Lekbir Baala, Stephane Romano, Rana Khaddour, Sophie Saunier, Ursula M Smith, Sophie Audollent, Catherine Ozilou, Laurence Faivre, Nicole Laurent, Bernard Foliguet,[...]. Am J Hum Genet 2007
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Abnormal cerebellar development and axonal decussation due to mutations in AHI1 in Joubert syndrome.
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Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome.
Carmen C Leitch, Norann A Zaghloul, Erica E Davis, Corinne Stoetzel, Anna Diaz-Font, Suzanne Rix, Majid Alfadhel, Richard Alan Lewis, Wafaa Eyaid, Eyal Banin,[...]. Nat Genet 2008
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CEP290, a gene with many faces: mutation overview and presentation of CEP290base.
Frauke Coppieters, Steve Lefever, Bart P Leroy, Elfride De Baere. Hum Mutat 2010
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High NPHP1 and NPHP6 mutation rate in patients with Joubert syndrome and nephronophthisis: potential epistatic effect of NPHP6 and AHI1 mutations in patients with NPHP1 mutations.
Kálmán Tory, Tiphanie Lacoste, Lydie Burglen, Vincent Morinière, Nathalie Boddaert, Marie-Alice Macher, Brigitte Llanas, Hubert Nivet, Albert Bensman, Patrick Niaudet,[...]. J Am Soc Nephrol 2007
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In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.
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The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome.
Melissa A Parisi, Craig L Bennett, Melissa L Eckert, William B Dobyns, Joseph G Gleeson, Dennis W W Shaw, Ruth McDonald, Allison Eddy, Phillip F Chance, Ian A Glass. Am J Hum Genet 2004
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MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement.
Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Annalisa Mazzotta, Enrico Bertini, Eugen Boltshauser, Stefano D'Arrigo, Francesco Emma, Elisa Fazzi, Romina Gallizzi,[...]. Hum Mutat 2009
Francesco Brancati, Miriam Iannicelli, Lorena Travaglini, Annalisa Mazzotta, Enrico Bertini, Eugen Boltshauser, Stefano D'Arrigo, Francesco Emma, Elisa Fazzi, Romina Gallizzi,[...]. Hum Mutat 2009
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Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel-Gruber syndrome.
Valeska Frank, Anneke I den Hollander, Nadina Ortiz Brüchle, Marijke N Zonneveld, Gudrun Nürnberg, Christian Becker, Gabriele Du Bois, Heide Kendziorra, Susanne Roosing, Jan Senderek,[...]. Hum Mutat 2008
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Mutations in the AHI1 gene, encoding jouberin, cause Joubert syndrome with cortical polymicrogyria.
Tracy Dixon-Salazar, Jennifer L Silhavy, Sarah E Marsh, Carrie M Louie, Lesley C Scott, Aithala Gururaj, Lihadh Al-Gazali, Asma A Al-Tawari, Hulya Kayserili, László Sztriha,[...]. Am J Hum Genet 2004
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Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome.
Vincent Cantagrel, Jennifer L Silhavy, Stephanie L Bielas, Dominika Swistun, Sarah E Marsh, Julien Y Bertrand, Sophie Audollent, Tania Attié-Bitach, Kenton R Holden, William B Dobyns,[...]. Am J Hum Genet 2008
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Mutation analysis of NPHP6/CEP290 in patients with Joubert syndrome and Senior-Løken syndrome.
Juliana Helou, Edgar A Otto, Massimo Attanasio, Susan J Allen, Melissa A Parisi, Ian Glass, Boris Utsch, Seema Hashmi, Elisa Fazzi, Heymut Omran,[...]. J Med Genet 2007
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The ciliopathies: an emerging class of human genetic disorders.
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Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome.
Heleen H Arts, Dan Doherty, Sylvia E C van Beersum, Melissa A Parisi, Stef J F Letteboer, Nicholas T Gorden, Theo A Peters, Tina Märker, Krysta Voesenek, Aileen Kartono,[...]. Nat Genet 2007
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AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders.
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Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation.
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Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes.
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"Joubert syndrome" revisited: key ocular motor signs with magnetic resonance imaging correlation.
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Joubert Syndrome and related disorders.
Francesco Brancati, Bruno Dallapiccola, Enza Maria Valente. Orphanet J Rare Dis 2010
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AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome.
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CP110 suppresses primary cilia formation through its interaction with CEP290, a protein deficient in human ciliary disease.
William Y Tsang, Carine Bossard, Hemant Khanna, Johan Peränen, Anand Swaroop, Vivek Malhotra, Brian David Dynlacht. Dev Cell 2008
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Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis).
D Doherty, M A Parisi, L S Finn, M Gunay-Aygun, M Al-Mateen, D Bates, C Clericuzio, H Demir, M Dorschner, A J van Essen,[...]. J Med Genet 2010
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A common allele in RPGRIP1L is a modifier of retinal degeneration in ciliopathies.
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Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies.
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AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis.
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The transmembrane protein meckelin (MKS3) is mutated in Meckel-Gruber syndrome and the wpk rat.
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Joubert syndrome (and related disorders) (OMIM 213300).
Melissa A Parisi, Dan Doherty, Phillip F Chance, Ian A Glass. Eur J Hum Genet 2007
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CEP290 interacts with the centriolar satellite component PCM-1 and is required for Rab8 localization to the primary cilium.
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Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.
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Mapping the NPHP-JBTS-MKS protein network reveals ciliopathy disease genes and pathways.
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MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome.
Mira Kyttälä, Jonna Tallila, Riitta Salonen, Outi Kopra, Nicolai Kohlschmidt, Paulina Paavola-Sakki, Leena Peltonen, Marjo Kestilä. Nat Genet 2006
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Leber congenital amaurosis: genes, proteins and disease mechanisms.
Anneke I den Hollander, Ronald Roepman, Robert K Koenekoop, Frans P M Cremers. Prog Retin Eye Res 2008
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CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
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A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition.
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NPHP1 gene deletion is a rare cause of Joubert syndrome related disorders.
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The Meckel-Gruber Syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation.
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Nephrocystin-5, a ciliary IQ domain protein, is mutated in Senior-Loken syndrome and interacts with RPGR and calmodulin.
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Clinical features and revised diagnostic criteria in Joubert syndrome.
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OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin.
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TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum.
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