Mouse genetics reveals Barttin as a genetic modifier of Joubert syndrome
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E. Molinari | H. Cordell | G. Clowry | F. Silbermann | S. Saunier | P. Thelwall | M. Gunay‐Aygun | F. Hildebrandt | J. Sayer | K. Wood | S. Ramsbottom | C. Miles | L. Devlin | S. Shril | H. Spiewak
[1] I. Glass,et al. Healthcare recommendations for Joubert syndrome , 2019, American journal of medical genetics. Part A.
[2] J. Sayer,et al. Renal ciliopathies. , 2019, Current opinion in genetics & development.
[3] E. Molinari,et al. Targeted exon skipping of a CEP290 mutation rescues Joubert syndrome phenotypes in vitro and in a murine model , 2018, Proceedings of the National Academy of Sciences.
[4] E. Bertini,et al. Impaired urinary concentration ability is a sensitive predictor of renal disease progression in Joubert syndrome , 2018, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.
[5] Christine M. Cutillo,et al. Progress in Rare Diseases Research 2010–2016: An IRDiRC Perspective , 2017, Clinical and translational science.
[6] T Zikmund,et al. Ciliopathy Protein Tmem107 Plays Multiple Roles in Craniofacial Development , 2018, Journal of dental research.
[7] E. Molinari,et al. A human patient-derived cellular model of Joubert syndrome reveals ciliary defects which can be rescued with targeted therapies , 2017, Human molecular genetics.
[8] K. Nagashima,et al. In Vitro Modeling Using Ciliopathy-Patient-Derived Cells Reveals Distinct Cilia Dysfunctions Caused by CEP290 Mutations. , 2017, Cell reports.
[9] H. Shiraishi,et al. Molecular genetic analysis of 30 families with Joubert syndrome , 2016, Clinical genetics.
[10] Colin A. Johnson,et al. Characterizing the morbid genome of ciliopathies , 2016, Genome Biology.
[11] J. Rommens,et al. Genome-wide association meta-analysis identifies five modifier loci of lung disease severity in cystic fibrosis , 2015, Nature Communications.
[12] Jane S. Paulsen,et al. Identification of Genetic Factors that Modify Clinical Onset of Huntington’s Disease , 2015, Cell.
[13] E. Stone,et al. Basal exon skipping and genetic pleiotropy: A predictive model of disease pathogenesis , 2015, Science Translational Medicine.
[14] G. Pazour,et al. Novel Jbts17 mutant mouse model of Joubert syndrome with cilia transition zone defects and cerebellar and other ciliopathy related anomalies. , 2015, Human molecular genetics.
[15] B. Wickstead,et al. CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies. , 2015, Human molecular genetics.
[16] M. MacDonald,et al. Genetic modifiers of Huntington's disease , 2014, Movement disorders : official journal of the Movement Disorder Society.
[17] P. Thelwall,et al. Murine Joubert syndrome reveals Hedgehog signaling defects as a potential therapeutic target for nephronophthisis , 2014, Proceedings of the National Academy of Sciences.
[18] F. Claverie-Martin,et al. Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene. , 2014, Clinical nephrology.
[19] M. Amaral,et al. Impact of the cystic fibrosis mutation F508del-CFTR on renal cyst formation and growth. , 2012, American journal of physiology. Renal physiology.
[20] D. Norris,et al. Mouse models of ciliopathies: the state of the art , 2012, Disease Models & Mechanisms.
[21] J. Heckenlively,et al. Genotype-phenotype correlation in 440 patients with NPHP-related ciliopathies. , 2011, Kidney international.
[22] S. Ware,et al. Spectrum of clinical diseases caused by disorders of primary cilia. , 2011, Proceedings of the American Thoracic Society.
[23] Madeline A. Lancaster,et al. Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome , 2011, Nature Medicine.
[24] F. Coppieters,et al. CEP290, a gene with many faces: mutation overview and presentation of CEP290base , 2010, Human mutation.
[25] R. Lewis,et al. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome , 2008, Nature Genetics.
[26] Colin A. Johnson,et al. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. , 2007, American journal of human genetics.
[27] T. Meitinger,et al. Mutations in the CEP290 (NPHP6) gene are a frequent cause of Leber congenital amaurosis. , 2006, American journal of human genetics.
[28] Yan Liu,et al. The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4 , 2006, Nature Genetics.
[29] Madeline A. Lancaster,et al. Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome , 2006, Nature Genetics.
[30] F. Hildebrandt,et al. Barttin is a Cl- channel β-subunit crucial for renal Cl- reabsorption and inner ear K+ secretion , 2001, Nature.
[31] H. Omran,et al. Mutation of BSND causes Bartter syndrome with sensorineural deafness and kidney failure , 2001, Nature Genetics.
[32] M. Konrad,et al. Hypokalemic salt-losing tubulopathy with chronic renal failure and sensorineural deafness. , 2001, Pediatrics.
[33] Markus Voelter,et al. State of the Art , 1997, Pediatric Research.
[34] E. Boltshauser,et al. Joubert Syndrome: Episodic Hyperpnea, Abnormal Eye Movements, Retardation and Ataxia, Associated with Dysplasia of the Cerebellar Vermis , 1977, Neuropadiatrie.
[35] F. Andermann,et al. Familial Agenesis of the Cerebellar Vermis: A Syndrome of Episodic Hyperpnea, Abnormal Eye Movements, Ataxia, and Retardation , 1999, Neurology.
[36] J. Haldane. The relative importance of principal and modifying genes in determining some human diseases , 1941 .
[37] C. Bridges. The genetics of purple eye color in Drosophila , 1919 .