Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
Dhanjit Kumar Das, Bhakti Mehta, Shyla R Menon, Sarbani Raha, Vrajesh Udan. Novel mutations in cyclin-dependent kinase-like 5 (CDKL5) gene in Indian cases of Rett syndrome. Neuromolecular medicine. vol 15. issue 1. 2013-08-29. PMID:23242510. |
our study emphasizes the role of cdkl5 mutation screening in cases of atypical rett syndrome with congenital seizure variant. |
2013-08-29 |
2023-08-12 |
Not clear |
Mari Sekiguchi, Syouichi Katayama, Naoya Hatano, Yasushi Shigeri, Noriyuki Sueyoshi, Isamu Kameshit. Identification of amphiphysin 1 as an endogenous substrate for CDKL5, a protein kinase associated with X-linked neurodevelopmental disorder. Archives of biochemistry and biophysics. vol 535. issue 2. 2013-08-16. PMID:23651931. |
cyclin-dependent kinase-like 5 (cdkl5) is a ser/thr protein kinase predominantly expressed in brain and mutations of its gene are known to be associated with neurodevelopmental disorders such as x-linked west syndrome and rett syndrome. |
2013-08-16 |
2023-08-12 |
mouse |
Yong-Chuan Zhu, Dan Li, Lu Wang, Bin Lu, Jing Zheng, Shi-Lin Zhao, Rong Zeng, Zhi-Qi Xion. Palmitoylation-dependent CDKL5-PSD-95 interaction regulates synaptic targeting of CDKL5 and dendritic spine development. Proceedings of the National Academy of Sciences of the United States of America. vol 110. issue 22. 2013-07-30. PMID:23671101. |
the x-linked gene cyclin-dependent kinase-like 5 (cdkl5) is mutated in severe neurodevelopmental disorders, including some forms of atypical rett syndrome, but the function and regulation of cdkl5 protein in neurons remain to be elucidated. |
2013-07-30 |
2023-08-12 |
Not clear |
Eveline E O Hagebeuk, Renilde A S van den Bossche, Al W de Weer. Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene. Developmental medicine and child neurology. vol 55. issue 5. 2013-05-30. PMID:23151060. |
respiratory and sleep disorders in female children with atypical rett syndrome caused by mutations in the cdkl5 gene. |
2013-05-30 |
2023-08-12 |
Not clear |
Eveline E O Hagebeuk, Renilde A S van den Bossche, Al W de Weer. Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene. Developmental medicine and child neurology. vol 55. issue 5. 2013-05-30. PMID:23151060. |
in female children with drug-resistant seizures and developmental delay from birth, atypical rett syndrome caused by mutations in the cdkl5 gene should be considered. |
2013-05-30 |
2023-08-12 |
Not clear |
Eveline E O Hagebeuk, Renilde A S van den Bossche, Al W de Weer. Respiratory and sleep disorders in female children with atypical Rett syndrome caused by mutations in the CDKL5 gene. Developmental medicine and child neurology. vol 55. issue 5. 2013-05-30. PMID:23151060. |
respiratory and sleep abnormalities are frequently present in rett syndrome, whereas little is known in patients with cdkl5 mutations. |
2013-05-30 |
2023-08-12 |
Not clear |
I-Ting Judy Wang, Megan Allen, Darren Goffin, Xinjian Zhu, Andrew H Fairless, Edward S Brodkin, Steve J Siegel, Eric D Marsh, Julie A Blendy, Zhaolan Zho. Loss of CDKL5 disrupts kinome profile and event-related potentials leading to autistic-like phenotypes in mice. Proceedings of the National Academy of Sciences of the United States of America. vol 109. issue 52. 2013-02-21. PMID:23236174. |
mutations in the x-linked cyclin-dependent kinase-like 5 (cdkl5) gene have been identified in neurodevelopmental disorders including atypical rett syndrome (rtt), autism spectrum disorders (asds), and early infantile epileptic encephalopathy. |
2013-02-21 |
2023-08-12 |
mouse |
Emanuele Valli, Stefania Trazzi, Claudia Fuchs, Daniela Erriquez, Renata Bartesaghi, Giovanni Perini, Elisabetta Cian. CDKL5, a novel MYCN-repressed gene, blocks cell cycle and promotes differentiation of neuronal cells. Biochimica et biophysica acta. vol 1819. issue 11-12. 2013-02-15. PMID:22921766. |
mutations in the cdkl5 (cyclin-dependent kinase-like 5) gene are associated with a severe epileptic encephalopathy (early infantile epileptic encephalopathy type 2, eiee2) characterized by early-onset intractable seizures, infantile spasms, severe developmental delay, intellectual disability, and rett syndrome (rtt)-like features. |
2013-02-15 |
2023-08-12 |
human |
Sara Ricciardi, Federica Ungaro, Melanie Hambrock, Nils Rademacher, Gilda Stefanelli, Dario Brambilla, Alessandro Sessa, Cinzia Magagnotti, Angela Bachi, Elisa Giarda, Chiara Verpelli, Charlotte Kilstrup-Nielsen, Carlo Sala, Vera M Kalscheuer, Vania Broccol. CDKL5 ensures excitatory synapse stability by reinforcing NGL-1-PSD95 interaction in the postsynaptic compartment and is impaired in patient iPSC-derived neurons. Nature cell biology. vol 14. issue 9. 2013-02-06. PMID:22922712. |
mutations of the cyclin-dependent kinase-like 5 (cdkl5) and netrin-g1 (ntng1) genes cause a severe neurodevelopmental disorder with clinical features that are closely related to rett syndrome, including intellectual disability, early-onset intractable epilepsy and autism. |
2013-02-06 |
2023-08-12 |
mouse |
Renzo Guerrini, Elena Parrin. Epilepsy in Rett syndrome, and CDKL5- and FOXG1-gene-related encephalopathies. Epilepsia. vol 53. issue 12. 2013-02-01. PMID:22998673. |
it is now clearly emerging that epilepsy has distinctive characteristics in typical rett syndrome and in the different syndromes caused by cdkl5 and foxg1 gene alterations. |
2013-02-01 |
2023-08-12 |
Not clear |
Hiart Maortua, Cristina Martínez-Bouzas, María-Teresa Calvo, Maria-Rosario Domingo, Feliciano Ramos, Ainhoa García-Ribes, María-Jesús Martínez, María-Asunción López-Aríztegui, Nerea Puente, Izaskun Rubio, María-Isabel Tejad. CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain. BMC medical genetics. vol 13. 2013-01-31. PMID:22867051. |
mutations in the cyclin-dependent kinase-like 5 gene (cdkl5) located in the xp22 region have been shown to cause a subset of atypical rett syndrome with infantile spasms or early seizures starting in the first postnatal months. |
2013-01-31 |
2023-08-12 |
Not clear |
Nadia Bahi-Buisson, Nathalie Villeneuve, Emilie Caietta, Aurélia Jacquette, Helene Maurey, Gert Matthijs, Hilde Van Esch, Andrée Delahaye, Anne Moncla, Mathieu Milh, Flore Zufferey, Bertrand Diebold, Thierry Bienven. Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships. American journal of medical genetics. Part A. vol 158A. issue 7. 2012-11-13. PMID:22678952. |
mutations in the cyclin-dependent kinase-like 5 gene (cdkl5) have been described in epileptic encephalopathies in females with infantile spasms with features that overlap with rett syndrome. |
2012-11-13 |
2023-08-12 |
Not clear |
Barbara Bardoni, Sabiha Abekhoukh, Samantha Zongaro, Mireille Melk. Intellectual disabilities, neuronal posttranscriptional RNA metabolism, and RNA-binding proteins: three actors for a complex scenario. Progress in brain research. vol 197. 2012-09-14. PMID:22541287. |
two other proteins, dyrk1a and cdkl5, involved in down syndrome and rett syndrome, respectively, have been shown to have an impact on splicing efficiency of specific mrnas. |
2012-09-14 |
2023-08-12 |
Not clear |
Roksana Armani, Hayley Archer, Angus Clarke, Pradeep Vasudevan, Christiane Zweier, Gladys Ho, Sarah Williamson, Desiree Cloosterman, Nan Yang, John Christodoulo. Transcription factor 4 and myocyte enhancer factor 2C mutations are not common causes of Rett syndrome. American journal of medical genetics. Part A. vol 158A. issue 4. 2012-07-30. PMID:22383159. |
the systematic screening of rett syndrome (rtt) patients for pathogenetic sequence variations has focused on three genes that have been associated with rtt or related clinical phenotypes, namely mecp2, cdkl5, and foxg1. |
2012-07-30 |
2023-08-12 |
Not clear |
Giorgio Pini, Stefania Bigoni, Ingegerd Witt Engerström, Olga Calabrese, Beatrice Felloni, Maria Flora Scusa, Pietro Di Marco, Paolo Borelli, Ubaldo Bonuccelli, Peter O O Julu, Jytte Bieber Nielsen, Bodil Morin, Stig Hansen, Giuseppe Gobbi, Paola Visconti, Maria Pintaudi, Veneselli Edvige, Anna Romanelli, Fabrizio Bianchi, Manuela Casarano, Roberta Battini, Giovanni Cioni, Francesca Ariani, Alessandra Renieri, Alberto Benincasa, Robert S Delamont, Michele Zappell. Variant of Rett syndrome and CDKL5 gene: clinical and autonomic description of 10 cases. Neuropediatrics. vol 43. issue 1. 2012-07-20. PMID:22430159. |
variant of rett syndrome and cdkl5 gene: clinical and autonomic description of 10 cases. |
2012-07-20 |
2023-08-12 |
Not clear |
Xenia L Stalpers, Liesbeth Spruijt, Helger G Yntema, Aad Verrip. Clinical phenotype of 5 females with a CDKL5 mutation. Journal of child neurology. vol 27. issue 1. 2012-05-15. PMID:21765152. |
furthermore, in contrast to rett syndrome, patients with cdkl5 mutations, have seizures or infantile spasms starting in the first weeks of life. |
2012-05-15 |
2023-08-12 |
Not clear |
Kinga Hadzsiev, Noemi Polgar, Judit Bene, Katalin Komlosi, Judit Karteszi, Katalin Hollody, Gyorgy Kosztolanyi, Alessandra Renieri, Bela Meleg. Analysis of Hungarian patients with Rett syndrome phenotype for MECP2, CDKL5 and FOXG1 gene mutations. Journal of human genetics. vol 56. issue 3. 2011-07-14. PMID:21160487. |
analysis of hungarian patients with rett syndrome phenotype for mecp2, cdkl5 and foxg1 gene mutations. |
2011-07-14 |
2023-08-12 |
human |
Yann Fichou, Juliette Nectoux, Nadia Bahi-Buisson, Jamel Chelly, Thierry Bienven. An isoform of the severe encephalopathy-related CDKL5 gene, including a novel exon with extremely high sequence conservation, is specifically expressed in brain. Journal of human genetics. vol 56. issue 1. 2011-05-09. PMID:21124335. |
we report the identification of a novel exon, which is referred to as exon 16b, within the cyclin-dependent kinase (cdk)-like 5 (cdkl5) gene that is implicated in the x-linked infantile spasm syndrome and the early-onset seizure variant of rett syndrome. |
2011-05-09 |
2023-08-12 |
Not clear |
Tangui Le Guen, Yann Fichou, Juliette Nectoux, Nadia Bahi-Buisson, François Rivier, Nathalie Boddaert, Bertrand Diebold, Delphine Héron, Jamel Chelly, Thierry Bienven. A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization. Human mutation. vol 32. issue 2. 2011-03-24. PMID:21280142. |
because cdkl5, which is involved in the early-onset variant of rett syndrome, is also located in these speckles, we suggest that disregulation of the dynamic behaviour of nuclear speckles may functionally link these two proteins, which are both involved in atypical forms of rett syndrome. |
2011-03-24 |
2023-08-12 |
Not clear |
Qian Chen, Yong-Chuan Zhu, Jing Yu, Sheng Miao, Jing Zheng, Li Xu, Yang Zhou, Dan Li, Chi Zhang, Jiong Tao, Zhi-Qi Xion. CDKL5, a protein associated with rett syndrome, regulates neuronal morphogenesis via Rac1 signaling. The Journal of neuroscience : the official journal of the Society for Neuroscience. vol 30. issue 38. 2010-10-08. PMID:20861382. |
cdkl5, a protein associated with rett syndrome, regulates neuronal morphogenesis via rac1 signaling. |
2010-10-08 |
2023-08-12 |
rat |