| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| David Pellerin, Jean-Loup Méreaux, Susana Boluda, Matt C Danzi, Marie-Josée Dicaire, Claire-Sophie Davoine, David Genis, Guinevere Spurdens, Catherine Ashton, Jillian M Hammond, Brandon J Gerhart, Viorica Chelban, Phuong U Le, Maryam Safisamghabadi, Christopher Yanick, Hamin Lee, Sathiji K Nageshwaran, Gabriel Matos-Rodrigues, Zane Jaunmuktane, Kevin Petrecca, Schahram Akbarian, André Nussenzweig, Karen Usdin, Mathilde Renaud, Céline Bonnet, Gianina Ravenscroft, Mario A Saporta, Jill S Napierala, Henry Houlden, Ira W Deveson, Marek Napierala, Alexis Brice, Laura Molina Porcel, Danielle Seilhean, Stephan Zuchner, Alexandra Durr, Bernard Brai. Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum. Brain : a journal of neurology. 2024-10-08. PMID:39378335. |
in conclusion, our study revealed that the fgf14 gaa•ttc repeat exhibits a cerebellar-specific expansion bias, which may explain the pure cerebellar involvement in sca27b. |
2024-10-08 |
2024-10-11 |
Not clear |
| David Pellerin, Jean-Loup Méreaux, Susana Boluda, Matt C Danzi, Marie-Josée Dicaire, Claire-Sophie Davoine, David Genis, Guinevere Spurdens, Catherine Ashton, Jillian M Hammond, Brandon J Gerhart, Viorica Chelban, Phuong U Le, Maryam Safisamghabadi, Christopher Yanick, Hamin Lee, Sathiji K Nageshwaran, Gabriel Matos-Rodrigues, Zane Jaunmuktane, Kevin Petrecca, Schahram Akbarian, André Nussenzweig, Karen Usdin, Mathilde Renaud, Céline Bonnet, Gianina Ravenscroft, Mario A Saporta, Jill S Napierala, Henry Houlden, Ira W Deveson, Marek Napierala, Alexis Brice, Laura Molina Porcel, Danielle Seilhean, Stephan Zuchner, Alexandra Durr, Bernard Brai. Somatic instability of the FGF14-SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum. Brain : a journal of neurology. 2024-10-08. PMID:39378335. |
we found no significant difference in methylation of wild-type and expanded fgf14 alleles in post-mortem cerebellar hemispheres between patients and controls. |
2024-10-08 |
2024-10-11 |
Not clear |
| Tiyasha De, Pooja Sharma, Bharathram Upilli, A Vivekanand, Shreya Bari, Akhilesh Kumar Sonakar, Achal Kumar Srivastava, Mohammed Faru. Spinocerebellar ataxia type 27B (SCA27B) in India: insights from a large cohort study suggest ancient origin. Neurogenetics. 2024-07-08. PMID:38976084. |
spinocerebellar ataxia type 27b (sca27b), a recently identified dominantly inherited cerebellar disorder is caused by gaa-repeat expansions in intron 1 of fibroblast growth factor 14 (fgf14). |
2024-07-08 |
2024-07-11 |
Not clear |
| Marie K Bosch, Jeanne M Nerbonne, R Reid Townsend, Haruko Miyazaki, Nobuyuki Nukina, David M Ornitz, Céline Marionnea. Proteomic analysis of native cerebellar iFGF14 complexes. Channels (Austin, Tex.). vol 10. issue 4. 2017-07-24. PMID:26889602. |
additional experiments were completed using an anti-pannav antibody to immunoprecipitate nav channel complexes from wild type and fgf14(-/-) mouse cerebellum. |
2017-07-24 |
2023-08-13 |
mouse |
| Marie K Bosch, Jeanne M Nerbonne, R Reid Townsend, Haruko Miyazaki, Nobuyuki Nukina, David M Ornitz, Céline Marionnea. Proteomic analysis of native cerebellar iFGF14 complexes. Channels (Austin, Tex.). vol 10. issue 4. 2017-07-24. PMID:26889602. |
parallel control experiments were performed on cerebellar proteins isolated from mice (fgf14(-/-)) harboring a targeted disruption of the fgf14 locus. |
2017-07-24 |
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. |
to gain insights in the cerebellar deficits in the animal model of the human disease, we applied whole-cell voltage-clamp in the acute cerebellar slice preparation to examine the properties of parallel fibers (pf) to purkinje neuron synapses in fgf14 (-/-) mice and wild type littermates. |
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. |
fgf14 regulates brain sodium channels, especially in the cerebellum. |
2015-02-12 |
2023-08-12 |
Not clear |
| 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. |
current clamp recordings from purkinje neurons in cerebellar slices revealed attenuated spontaneous firing in fgf14(-/-) neurons. |
2009-02-17 |
2023-08-12 |
mouse |
| Hidehiro Mizusaw. [Autosomal dominant spinocerebellar degeneration--new forms and pathomechanisms]. Rinsho shinkeigaku = Clinical neurology. vol 44. issue 11. 2005-03-04. PMID:15651290. |
the outlines of some new members, namely autosomal dominant cortical cerebellar atrophy linked to chromosome 16 (16q-adcca), sca14, an ataxia caused by fgf14 mutation and a form of neuroferritinopathy were described. |
2005-03-04 |
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 |
| John C van Swieten, Esther Brusse, Bianca M de Graaf, Elmar Krieger, Raoul van de Graaf, Inge de Koning, Anneke Maat-Kievit, Peter Leegwater, Dennis Dooijes, Ben A Oostra, Peter Heutin. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia [corrected]. American journal of human genetics. vol 72. issue 1. 2003-02-21. PMID:12489043. |
the present fgf14 mutation represents a novel gene defect involved in the neurodegeneration of cerebellum and basal ganglia. |
2003-02-21 |
2023-08-12 |
mouse |
| Q Wang, D G McEwen, D M Ornit. Subcellular and developmental expression of alternatively spliced forms of fibroblast growth factor 14. Mechanisms of development. vol 90. issue 2. 2000-04-27. PMID:10640713. |
the developmental expression pattern of fgf14 in the cerebellum is complementary to that of math1, a marker for proliferating granule cells in the external germinal layer. |
2000-04-27 |
2023-08-12 |
mouse |
| Q Wang, D G McEwen, D M Ornit. Subcellular and developmental expression of alternatively spliced forms of fibroblast growth factor 14. Mechanisms of development. vol 90. issue 2. 2000-04-27. PMID:10640713. |
we also show that during cerebellar development, fgf14 is first observed at postnatal day 1 in post mitotic granule cells, and later in development, in migrating and post migratory granule cells. |
2000-04-27 |
2023-08-12 |
mouse |