| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Haidun Yan, Juan L Pablo, Chaojian Wang, Geoffrey S Pit. FGF14 modulates resurgent sodium current in mouse cerebellar Purkinje neurons. eLife. vol 3. 2015-07-02. PMID:25269146. |
in this study, we show that the nav channel auxiliary subunit fgf14 'b' isoform, a locus for inherited spinocerebellar ataxias, controls resurgent current and repetitive firing in purkinje neurons. |
2015-07-02 |
2023-08-13 |
mouse |
| Filippo Tempia, Eriola Hoxha, Giulia Negro, Musaad A Alshammari, Tahani K Alshammari, Neli Panova-Elektronova, Fernanda Laezz. Parallel fiber to Purkinje cell synaptic impairment in a mouse model of spinocerebellar ataxia type 27. Frontiers in cellular neuroscience. vol 9. 2015-06-19. PMID:26089778. |
genetically inherited mutations in the fibroblast growth factor 14 (fgf14) gene lead to spinocerebellar ataxia type 27 (sca27), an autosomal dominant disorder characterized by heterogeneous motor and cognitive impairments. |
2015-06-19 |
2023-08-13 |
mouse |
| J A Coebergh, D E Fransen van de Putte, I N Snoeck, C Ruivenkamp, A van Haeringen, L M Smi. A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 18. issue 3. 2015-02-12. PMID:24252256. |
a new variable phenotype in spinocerebellar ataxia 27 (sca 27) caused by a deletion in the fgf14 gene. |
2015-02-12 |
2023-08-12 |
Not clear |
| Haidun Yan, Juan L Pablo, Geoffrey S Pit. FGF14 regulates presynaptic Ca2+ channels and synaptic transmission. Cell reports. vol 4. issue 1. 2014-01-31. PMID:23831029. |
mutations in fgf14, an fhf that is the locus for spinocerebellar ataxia 27 (sca27), are believed to be pathogenic because of a dominant-negative reduction of nav currents in cerebellar granule cells. |
2014-01-31 |
2023-08-12 |
Not clear |
| Pavel Krejci, Jirina Prochazkova, Vitezslav Bryja, Alois Kozubik, William R Wilco. Molecular pathology of the fibroblast growth factor family. Human mutation. vol 30. issue 9. 2009-11-17. PMID:19621416. |
these include fgf3 in michel aplasia; fgf8 in cleft lip/palate and in hypogonadotropic hypogonadism; fgf9 in carcinoma; fgf10 in the lacrimal/salivary glands aplasia, and lacrimo-auriculo-dento-digital syndrome; fgf14 in spinocerebellar ataxia; fgf20 in parkinson disease; and fgf23 in tumoral calcinosis and hypophosphatemic rickets. |
2009-11-17 |
2023-08-12 |
human |
| Vikram G Shakkottai, Maolei Xiao, Lin Xu, Michael Wong, Jeanne M Nerbonne, David M Ornitz, Kelvin A Yamad. FGF14 regulates the intrinsic excitability of cerebellar Purkinje neurons. Neurobiology of disease. vol 33. issue 1. 2009-02-17. PMID:18930825. |
a missense mutation in the fibroblast growth factor 14 (fgf14) gene underlies sca27, an autosomal dominant spinocerebellar ataxia in humans. |
2009-02-17 |
2023-08-12 |
mouse |
| Fernanda Laezza, Benjamin R Gerber, Jun-Yang Lou, Marie A Kozel, Hali Hartman, Ann Marie Craig, David M Ornitz, Jeanne M Nerbonn. The FGF14(F145S) mutation disrupts the interaction of FGF14 with voltage-gated Na+ channels and impairs neuronal excitability. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 27. issue 44. 2007-12-03. PMID:17978045. |
the neurological phenotypes seen in fgf14-/- mice and the identification of an fgf14 missense mutation (fgf14(f145s)) in a dutch family presenting with cognitive impairment and spinocerebellar ataxia suggest links between fgf14 and neuronal functioning. |
2007-12-03 |
2023-08-12 |
mouse |
| Maolei Xiao, Lin Xu, Fernanda Laezza, Kelvin Yamada, Sheng Feng, David M Ornit. Impaired hippocampal synaptic transmission and plasticity in mice lacking fibroblast growth factor 14. Molecular and cellular neurosciences. vol 34. issue 3. 2007-05-15. PMID:17208450. |
humans with an autosomal dominant missense mutation in fibroblast growth factor 14 (fgf14) have impaired cognitive abilities and slowly progressive spinocerebellar ataxia. |
2007-05-15 |
2023-08-12 |
mouse |
| G Stevanin, A Durr, C Dussert, C Penet, A Bric. Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians. Neurology. vol 63. issue 5. 2005-04-08. PMID:15365159. |
mutations in the fgf14 gene are not a major cause of spinocerebellar ataxia in caucasians. |
2005-04-08 |
2023-08-12 |
Not clear |
| Alfredo Brusco, Cinzia Gellera, Claudia Cagnoli, Alessandro Saluto, Alessia Castucci, Chiara Michielotto, Vincenza Fetoni, Caterina Mariotti, Nicola Migone, Stefano Di Donato, Franco Taron. Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. Archives of neurology. vol 61. issue 5. 2004-06-17. PMID:15148151. |
autosomal dominant cerebellar ataxias are a clinical and genetically heterogeneous group of progressive neurodegenerative diseases, at present associated with 22 loci (spinocerebellar ataxia [sca] 1-sca8, sca10-sca19, sca21, sca22, fibroblast growth factor 14 [fgf14]-sca, and dentatorubral-pallidoluysian atrophy [drpla]). |
2004-06-17 |
2023-08-12 |
Not clear |