| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Delphine Carouge, Lionel Host, Dominique Aunis, Jean Zwiller, Patrick Anglar. CDKL5 is a brain MeCP2 target gene regulated by DNA methylation. Neurobiology of disease. vol 38. issue 3. 2010-08-17. PMID:20211261. |
rett syndrome and its "early-onset seizure" variant are severe neurodevelopmental disorders associated with mutations within the mecp2 and the cdkl5 genes. |
2010-08-17 |
2023-08-12 |
rat |
| Rose White, Gladys Ho, Swetlana Schmidt, Ingrid E Scheffer, Alexandra Fischer, Simone C Yendle, Thierry Bienvenu, Juliette Nectoux, Carolyn J Ellaway, Artur Darmanian, XingZhang Tong, Desiree Cloosterman, Bruce Bennetts, Veena Kalra, Tod Fullston, Jozef Gecz, Timothy C Cox, John Christodoulo. Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders. Twin research and human genetics : the official journal of the International Society for Twin Studies. vol 13. issue 2. 2010-08-04. PMID:20397747. |
cyclin-dependent kinase-like 5 (cdkl5) mutation screening in rett syndrome and related disorders. |
2010-08-04 |
2023-08-12 |
Not clear |
| Davide Mei, Carla Marini, Francesca Novara, Bernardo D Bernardina, Tiziana Granata, Elena Fontana, Elena Parrini, Anna R Ferrari, Alessandra Murgia, Orsetta Zuffardi, Renzo Guerrin. Xp22.3 genomic deletions involving the CDKL5 gene in girls with early onset epileptic encephalopathy. Epilepsia. vol 51. issue 4. 2010-05-03. PMID:19780792. |
mutations of the x-linked gene cyclin-dependent kinase-like 5 (cdkl5) cause an x-linked encephalopathy with early onset intractable epilepsy, including infantile spasms and other seizure types, and a rett syndrome (rtt)-like phenotype. |
2010-05-03 |
2023-08-12 |
Not clear |
| Nadia Bahi-Buisson, Benoit Girard, Agnes Gautier, Juliette Nectoux, Yann Fichou, Yoann Saillour, Karine Poirier, Jamel Chelly, Thierry Bienven. Epileptic encephalopathy in a girl with an interstitial deletion of Xp22 comprising promoter and exon 1 of the CDKL5 gene. American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics. vol 153B. issue 1. 2010-03-23. PMID:19455595. |
this combination of clinical features, suggestive of early onset variant of rett syndrome led us to screen the cdkl5 gene. |
2010-03-23 |
2023-08-12 |
Not clear |
| Sara Ricciardi, Charlotte Kilstrup-Nielsen, Thierry Bienvenu, Aurélia Jacquette, Nicoletta Landsberger, Vania Broccol. CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery. Human molecular genetics. vol 18. issue 23. 2010-02-12. PMID:19740913. |
mutations in the human x-linked cyclin-dependent kinase-like 5 (cdkl5) gene have been shown to cause severe neurodevelopmental disorders including infantile spasms, encephalopathy, west-syndrome and an early-onset variant of rett syndrome. |
2010-02-12 |
2023-08-12 |
human |
| Sara Ricciardi, Charlotte Kilstrup-Nielsen, Thierry Bienvenu, Aurélia Jacquette, Nicoletta Landsberger, Vania Broccol. CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery. Human molecular genetics. vol 18. issue 23. 2010-02-12. PMID:19740913. |
cdkl5 is a serine/threonine kinase whose involvement in rett syndrome can be inferred by its ability to directly bind and mediate phosphorylation of mecp2. |
2010-02-12 |
2023-08-12 |
human |
| C Nemos, L Lambert, F Giuliano, B Doray, A Roubertie, A Goldenberg, B Delobel, V Layet, M A N'guyen, A Saunier, F Verneau, P Jonveaux, C Philipp. Mutational spectrum of CDKL5 in early-onset encephalopathies: a study of a large collection of French patients and review of the literature. Clinical genetics. vol 76. issue 4. 2010-01-05. PMID:19793311. |
the cdkl5 gene has been implicated in the molecular etiology of early-onset intractable seizures with infantile spasms (is), severe hypotonia and atypical rett syndrome (rtt) features. |
2010-01-05 |
2023-08-12 |
Not clear |
| Ayelet Erez, Amina J Patel, Xueqing Wang, Zhilian Xia, Samarth S Bhatt, William Craigen, Sau Wai Cheung, Richard A Lewis, Ping Fang, Sandra L H Davenport, Pawel Stankiewicz, Seema R Lalan. Alu-specific microhomology-mediated deletions in CDKL5 in females with early-onset seizure disorder. Neurogenetics. vol 10. issue 4. 2009-12-07. PMID:19471977. |
mutations in the cyclin-dependent kinase-like 5 (cdkl5) gene in xp22.13 have been associated with infantile spasms, early-onset intractable epilepsy, and a rett syndrome (rtt)-like phenotype. |
2009-12-07 |
2023-08-12 |
Not clear |
| Periklis Makrythanasis, Philipp Kapranov, Lucia Bartoloni, Alexandre Reymond, Samuel Deutsch, Roderic Guigó, France Denoeud, Jorg Drenkow, Colette Rossier, Francesca Ariani, Valeria Capra, Laurent Excoffier, Alessandra Renieri, Thomas R Gingeras, Stylianos E Antonaraki. Variation in novel exons (RACEfrags) of the MECP2 gene in Rett syndrome patients and controls. Human mutation. vol 30. issue 9. 2009-11-17. PMID:19562714. |
one example is the mecp2 gene on the x chromosome; using 5'race and rt-pcr in human tissues and cell lines, we have found more than 70 novel exons (racefrags) connecting to at least one annotated exon.. we sequenced all mecp2-connected exons and flanking sequences in 3 groups: 46 patients with the rett syndrome and without mutations in the currently annotated exons of the mecp2 and cdkl5 genes; 32 patients with the rett syndrome and identified mutations in the mecp2 gene; 100 control individuals from the same geoethnic group. |
2009-11-17 |
2023-08-12 |
human |
| Mei-rong Li, Hong Pan, Xin-hua Bao, Xing-wang Zhu, Guang-na Cao, Yu-zhi Zhang, Xi-ru W. [Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients]. Zhonghua yi xue za zhi. vol 89. issue 4. 2009-10-06. PMID:19552836. |
[methyl-cpg-binding protein 2 gene and cdkl5 gene mutation in patients with rett syndrome: analysis of 177 chinese pediatric patients]. |
2009-10-06 |
2023-08-12 |
Not clear |
| Mei-rong Li, Hong Pan, Xin-hua Bao, Xing-wang Zhu, Guang-na Cao, Yu-zhi Zhang, Xi-ru W. [Methyl-CpG-binding protein 2 gene and CDKL5 gene mutation in patients with Rett syndrome: analysis of 177 Chinese pediatric patients]. Zhonghua yi xue za zhi. vol 89. issue 4. 2009-10-06. PMID:19552836. |
to study the spectrum of mutations in methyl-cpg-binding protein 2 gene (mecp2) and cyclin-dependent kinase-like 5 gene (cdkl5) in chinese pediatric patients with rett syndrome (rtt), and establish a simple, quick, and efficient gene test method as well as screen a strategy of genetic diagnosis for rtt. |
2009-10-06 |
2023-08-12 |
Not clear |
| S Russo, M Marchi, F Cogliati, M T Bonati, M Pintaudi, E Veneselli, V Saletti, M Balestrini, B Ben-Zeev, L Larizz. Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Neurogenetics. vol 10. issue 3. 2009-09-16. PMID:19241098. |
we screened a population of 92 patients with classic/atypical rett syndrome, 17 angelman/angelman-like patients and six idiopathic autistic patients for cdkl5 mutations and exon deletions and identified seven novel mutations: six in the rett subset and one in an angelman patient. |
2009-09-16 |
2023-08-12 |
Not clear |
| S Russo, M Marchi, F Cogliati, M T Bonati, M Pintaudi, E Veneselli, V Saletti, M Balestrini, B Ben-Zeev, L Larizz. Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes. Neurogenetics. vol 10. issue 3. 2009-09-16. PMID:19241098. |
furthermore, the mutational repertoire of the cdkl5 gene is shown to be expanded by testing patients with phenotypical overlap to rett syndrome and applying multiplex ligation-dependent probe amplification. |
2009-09-16 |
2023-08-12 |
Not clear |
| T Sprovieri, F L Conforti, A Fiumara, R Mazzei, C Ungaro, L Citrigno, M Muglia, A Arena, A Quattron. A novel mutation in the X-linked cyclin-dependent kinase-like 5 (CDKL5) gene associated with a severe Rett phenotype. American journal of medical genetics. Part A. vol 149A. issue 4. 2009-06-17. PMID:19253388. |
mutations in the x-linked cyclin-dependent kinase-like 5 (cdkl5) gene have recently been reported in patients with severe neurodevelopmental disorder characterized by early-onset seizures, infantile spasms, severe psychomotor impairment and very recently, in patients with rett syndrome (rtt)-like phenotype. |
2009-06-17 |
2023-08-12 |
Not clear |
| Stefano Sartori, Gabriella Di Rosa, Roberta Polli, Elisa Bettella, Giovanni Tricomi, Gaetano Tortorella, Alessandra Murgi. A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. American journal of medical genetics. Part A. vol 149A. issue 2. 2009-04-06. PMID:19161156. |
a novel cdkl5 mutation in a 47,xxy boy with the early-onset seizure variant of rett syndrome. |
2009-04-06 |
2023-08-12 |
human |
| Stefano Sartori, Gabriella Di Rosa, Roberta Polli, Elisa Bettella, Giovanni Tricomi, Gaetano Tortorella, Alessandra Murgi. A novel CDKL5 mutation in a 47,XXY boy with the early-onset seizure variant of Rett syndrome. American journal of medical genetics. Part A. vol 149A. issue 2. 2009-04-06. PMID:19161156. |
mutations of the cyclin-dependent kinase-like 5 gene (cdkl5), reported almost exclusively in female subjects, have been recently found to be the cause of a phenotype overlapping rett syndrome with early-onset epileptic encephalopathy. |
2009-04-06 |
2023-08-12 |
human |
| Laura Rusconi, Lisa Salvatoni, Laura Giudici, Ilaria Bertani, Charlotte Kilstrup-Nielsen, Vania Broccoli, Nicoletta Landsberge. CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail. The Journal of biological chemistry. vol 283. issue 44. 2008-12-29. PMID:18701457. |
mutations in the human x-linked cyclin-dependent kinase-like 5 (cdkl5) gene have been identified in patients with rett syndrome (rtt), west syndrome, and x-linked infantile spasms, sharing the common feature of mental retardation and early seizures. |
2008-12-29 |
2023-08-12 |
mouse |
| Laura Rusconi, Lisa Salvatoni, Laura Giudici, Ilaria Bertani, Charlotte Kilstrup-Nielsen, Vania Broccoli, Nicoletta Landsberge. CDKL5 expression is modulated during neuronal development and its subcellular distribution is tightly regulated by the C-terminal tail. The Journal of biological chemistry. vol 283. issue 44. 2008-12-29. PMID:18701457. |
cdkl5 is a rather uncharacterized kinase, but its involvement in rtt seems to be explained by the fact that it works upstream of mecp2, the main cause of rett syndrome. |
2008-12-29 |
2023-08-12 |
mouse |
| Nadia Bahi-Buisson, Juliette Nectoux, Haydeé Rosas-Vargas, Mathieu Milh, Nathalie Boddaert, Benoit Girard, Claude Cances, Dorothée Ville, Alexandra Afenjar, Marlène Rio, Delphine Héron, Marie Ange N'guyen Morel, Alexis Arzimanoglou, Christophe Philippe, Philippe Jonveaux, Jamel Chelly, Thierry Bienven. Key clinical features to identify girls with CDKL5 mutations. Brain : a journal of neurology. vol 131. issue Pt 10. 2008-12-22. PMID:18790821. |
mutations in the human x-linked cyclin-dependent kinase-like 5 (cdkl5) gene have been shown to cause infantile spasms as well as rett syndrome (rtt)-like phenotype. |
2008-12-22 |
2023-08-12 |
human |
| 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 |