| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Isamu Kameshita, Mari Sekiguchi, Daisuke Hamasaki, Yasunori Sugiyama, Naoya Hatano, Isao Suetake, Shoji Tajima, Noriyuki Sueyosh. Cyclin-dependent kinase-like 5 binds and phosphorylates DNA methyltransferase 1. Biochemical and biophysical research communications. vol 377. issue 4. 2008-12-16. PMID:18977197. |
considering that defects in the mecp2 or cdkl5 genes cause rett syndrome, we propose that the interaction between dnmt1 and cdkl5 may contribute to the pathogenic processes of rett syndrome. |
2008-12-16 |
2023-08-12 |
mouse |
| Aline Dubos, Solange Pannetier, André Hanaue. Inactivation of the CDKL3 gene at 5q31.1 by a balanced t(X;5) translocation associated with nonspecific mild mental retardation. American journal of medical genetics. Part A. vol 146A. issue 10. 2008-05-28. PMID:18412109. |
importantly, one member of the family, cdkl5, has been implicated in atypical rett syndrome, west syndrome, and x-linked infantile spasm, all including mr as a manifestation. |
2008-05-28 |
2023-08-12 |
mouse |
| H Rosas-Vargas, N Bahi-Buisson, C Philippe, J Nectoux, B Girard, M A N'Guyen Morel, C Gitiaux, L Lazaro, S Odent, P Jonveaux, J Chelly, T Bienven. Impairment of CDKL5 nuclear localisation as a cause for severe infantile encephalopathy. Journal of medical genetics. vol 45. issue 3. 2008-04-03. PMID:17993579. |
we screened the entire coding region of cdkl5 in 151 affected girls with a clinically heterogeneous phenotype ranging from encephalopathy with epilepsy to atypical rett syndrome by denaturing high liquid performance chromatography and direct sequencing, and we identified three novel missense mutations located in catalytic domain (p.ala40val, p.arg65gln, p.leu220pro). |
2008-04-03 |
2023-08-12 |
human |
| S Grosso, A Brogna, S Bazzotti, A Renieri, G Morgese, P Balestr. Seizures and electroencephalographic findings in CDKL5 mutations: case report and review. Brain & development. vol 29. issue 4. 2007-05-15. PMID:17049193. |
mutations in the x-linked gene cyclin-dependent kinase-like 5 (cdkl5) have been detected in patients presenting with seizures in the first few months of life and rett syndrome features. |
2007-05-15 |
2023-08-12 |
Not clear |
| S Grosso, A Brogna, S Bazzotti, A Renieri, G Morgese, P Balestr. Seizures and electroencephalographic findings in CDKL5 mutations: case report and review. Brain & development. vol 29. issue 4. 2007-05-15. PMID:17049193. |
a screen for cdkl5 mutations is useful in patients, mainly females, with a history of early onset intractable seizures and becomes mandatory when idiopathic infantile spasms and/or atypical rett syndrome features are also present. |
2007-05-15 |
2023-08-12 |
Not clear |
| Hilde Van Esch, Anna Jansen, Marijke Bauters, Guy Froyen, Jean-Pierre Fryn. Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes. American journal of medical genetics. Part A. vol 143. issue 4. 2007-04-09. PMID:17256798. |
among these deleted genes are the gene for nance-horan syndrome and the cyclin-dependent kinase-like 5 gene (cdkl5), responsible for the early seizure variant of rett syndrome. |
2007-04-09 |
2023-08-12 |
Not clear |
| Mei-Rong Li, Hong Pan, Xin-Hua Bao, Yu-Zhi Zhang, Xi-Ru W. MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome. Journal of human genetics. vol 52. issue 1. 2007-03-16. PMID:17089071. |
mecp2 and cdkl5 gene mutation analysis in chinese patients with rett syndrome. |
2007-03-16 |
2023-08-12 |
Not clear |
| Ilaria Bertani, Laura Rusconi, Fabrizio Bolognese, Greta Forlani, Barbara Conca, Lucia De Monte, Gianfranco Badaracco, Nicoletta Landsberger, Charlotte Kilstrup-Nielse. Functional consequences of mutations in CDKL5, an X-linked gene involved in infantile spasms and mental retardation. The Journal of biological chemistry. vol 281. issue 42. 2006-12-06. PMID:16935860. |
mutations in the x-linked cyclin-dependent kinase-like 5 (cdkl5) gene have been identified in patients with rett syndrome, west syndrome, and x-linked infantile spasms sharing the common features of generally intractable early seizures and mental retardation. |
2006-12-06 |
2023-08-12 |
Not clear |
| Mitsuhiro Kat. A new paradigm for West syndrome based on molecular and cell biology. Epilepsy research. vol 70 Suppl 1. 2006-10-26. PMID:16806828. |
although the phenotype of cdkl5 mutation is similar to rett syndrome caused by mecp2 mutation, the former is characterized by early-onset seizures and association with west syndrome. |
2006-10-26 |
2023-08-12 |
human |
| J Nectoux, D Heron, M Tallot, J Chelly, T Bienven. Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome. Clinical genetics. vol 70. issue 1. 2006-09-28. PMID:16813600. |
maternal origin of a novel c-terminal truncation mutation in cdkl5 causing a severe atypical form of rett syndrome. |
2006-09-28 |
2023-08-12 |
Not clear |
| J Nectoux, D Heron, M Tallot, J Chelly, T Bienven. Maternal origin of a novel C-terminal truncation mutation in CDKL5 causing a severe atypical form of Rett syndrome. Clinical genetics. vol 70. issue 1. 2006-09-28. PMID:16813600. |
moreover, this report reinforces the observation that the cdkl5 phenotype overlaps with rett syndrome and that cdkl5 gene analysis is recommended in females with a seizure disorder commencing in the first weeks of life. |
2006-09-28 |
2023-08-12 |
Not clear |
| Sabrina Buoni, Raffaella Zannolli, Vito Colamaria, Francesca Macucci, Rosanna M di Bartolo, Letizia Corbini, Alessandra Orsi, Michele Zappella, Joseph Haye. Myoclonic encephalopathy in the CDKL5 gene mutation. Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology. vol 117. issue 1. 2006-04-12. PMID:16326141. |
epilepsy with mutation of the cdkl5 gene causes early seizures and is a variant of rett syndrome (mim (312750), which is reported typically as infantile spasms. |
2006-04-12 |
2023-08-12 |
Not clear |
| Francesca Mari, Sara Azimonti, Ilaria Bertani, Fabrizio Bolognese, Elena Colombo, Rossella Caselli, Elisa Scala, Ilaria Longo, Salvatore Grosso, Chiara Pescucci, Francesca Ariani, Giuseppe Hayek, Paolo Balestri, Anna Bergo, Gianfranco Badaracco, Michele Zappella, Vania Broccoli, Alessandra Renieri, Charlotte Kilstrup-Nielsen, Nicoletta Landsberge. CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome. Human molecular genetics. vol 14. issue 14. 2005-12-21. PMID:15917271. |
cdkl5 belongs to the same molecular pathway of mecp2 and it is responsible for the early-onset seizure variant of rett syndrome. |
2005-12-21 |
2023-08-12 |
Not clear |
| Julie C Evans, Hayley L Archer, James P Colley, Kirstine Ravn, Jytte Bieber Nielsen, Alison Kerr, Elizabeth Williams, John Christodoulou, Jozef Gécz, Philip E Jardine, Michael J Wright, Daniela T Pilz, Lazarus Lazarou, David N Cooper, Julian R Sampson, Rachel Butler, Sharon D Whatley, Angus J Clark. Early onset seizures and Rett-like features associated with mutations in CDKL5. European journal of human genetics : EJHG. vol 13. issue 10. 2005-11-08. PMID:16015284. |
patients with cdkl5 mutations sometimes also show features similar to those seen in rett syndrome (rtt). |
2005-11-08 |
2023-08-12 |
human |
| Peter Huppke, Andreas Ohlenbusch, Cornelia Brendel, Franco Laccone, Jutta Gärtne. Mutation analysis of the HDAC 1, 2, 8 and CDKL5 genes in Rett syndrome patients without mutations in MECP2. American journal of medical genetics. Part A. vol 137. issue 2. 2005-10-17. PMID:16086395. |
mutation analysis of the hdac 1, 2, 8 and cdkl5 genes in rett syndrome patients without mutations in mecp2. |
2005-10-17 |
2023-08-12 |
Not clear |
| Jiong Tao, Hilde Van Esch, M Hagedorn-Greiwe, Kirsten Hoffmann, Bettina Moser, Martine Raynaud, Jürgen Sperner, Jean-Pierre Fryns, Eberhard Schwinger, Jozef Gécz, Hans-Hilger Ropers, Vera M Kalscheue. Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. American journal of human genetics. vol 75. issue 6. 2005-02-04. PMID:15499549. |
here, we report that de novo missense mutations in cdkl5 are associated with a severe phenotype of early-onset infantile spasms and clinical features that overlap those of other neurodevelopmental disorders, such as rett syndrome and angelman syndrome. |
2005-02-04 |
2023-08-12 |
Not clear |