| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Marta Vitorino, Nídia Cunha, Natércia Conceição, M Leonor Cancel. Expression pattern of cdkl5 during zebrafish early development: implications for use as model for atypical Rett syndrome. Molecular biology reports. vol 45. issue 4. 2019-04-29. PMID:29752575. |
expression pattern of cdkl5 during zebrafish early development: implications for use as model for atypical rett syndrome. |
2019-04-29 |
2023-08-13 |
human |
| Marta Vitorino, Nídia Cunha, Natércia Conceição, M Leonor Cancel. Expression pattern of cdkl5 during zebrafish early development: implications for use as model for atypical Rett syndrome. Molecular biology reports. vol 45. issue 4. 2019-04-29. PMID:29752575. |
atypical rett syndrome is a child neurodevelopmental disorder induced by mutations in cdkl5 gene and characterized by a progressive regression in development with loss of purposeful use of the hands, slowed brain and head growth, problems with walking, seizures, and intellectual disability. |
2019-04-29 |
2023-08-13 |
human |
| Marta Vitorino, Nídia Cunha, Natércia Conceição, M Leonor Cancel. Expression pattern of cdkl5 during zebrafish early development: implications for use as model for atypical Rett syndrome. Molecular biology reports. vol 45. issue 4. 2019-04-29. PMID:29752575. |
the expression patterns of cdkl5 in zebrafish is in accordance with the tissues known to be affected in humans and associated to symptoms and deficits observed in rett syndrome patients thus providing the first evidence that zebrafish could be an alternative model to study the molecular pathways of this disease as well as to test possible therapeutic approaches capable of rescuing the phenotype. |
2019-04-29 |
2023-08-13 |
human |
| Lieselot L G Carrette, Chen-Yu Wang, Chunyao Wei, William Press, Weiyuan Ma, Raymond J Kelleher, Jeannie T Le. A mixed modality approach towards Xi reactivation for Rett syndrome and other X-linked disorders. Proceedings of the National Academy of Sciences of the United States of America. vol 115. issue 4. 2018-07-18. PMID:29282321. |
however, a subset, including neurodevelopmental disorders, rett syndrome (rtt), fragile x syndrome, and cdkl5 syndrome, also affects females. |
2018-07-18 |
2023-08-13 |
Not clear |
| Viviana Lo Martire, Sara Alvente, Stefano Bastianini, Chiara Berteotti, Alessandro Silvani, Alice Valli, Rocchina Viggiano, Elisabetta Ciani, Giovanna Zoccol. CDKL5 deficiency entails sleep apneas in mice. Journal of sleep research. vol 26. issue 4. 2017-12-20. PMID:28230307. |
a recently discovered neurodevelopmental disorder caused by the mutation of the cyclin-dependent kinase-like 5 gene (cdkl5) entails complex autistic-like behaviours similar to rett syndrome, but its impact upon physiological functions remains largely unexplored. |
2017-12-20 |
2023-08-13 |
mouse |
| Viviana Lo Martire, Sara Alvente, Stefano Bastianini, Chiara Berteotti, Alessandro Silvani, Alice Valli, Rocchina Viggiano, Elisabetta Ciani, Giovanna Zoccol. CDKL5 deficiency entails sleep apneas in mice. Journal of sleep research. vol 26. issue 4. 2017-12-20. PMID:28230307. |
sleep-disordered breathing is common and potentially life-threatening in patients with rett syndrome; however, evidence is limited in children with cdkl5 disorder, and is lacking altogether in adults. |
2017-12-20 |
2023-08-13 |
mouse |
| Samin A Sajan, Shalini N Jhangiani, Donna M Muzny, Richard A Gibbs, James R Lupski, Daniel G Glaze, Walter E Kaufmann, Steven A Skinner, Fran Annese, Michael J Friez, Jane Lane, Alan K Percy, Jeffrey L Neu. Enrichment of mutations in chromatin regulators in people with Rett syndrome lacking mutations in MECP2. Genetics in medicine : official journal of the American College of Medical Genetics. vol 19. issue 1. 2017-12-07. PMID:27171548. |
rett syndrome (rtt) is a neurodevelopmental disorder caused primarily by de novo mutations in mecp2 and sometimes in cdkl5 and foxg1. |
2017-12-07 |
2023-08-13 |
Not clear |
| Grazia Della Sala, Elena Putignano, Gabriele Chelini, Riccardo Melani, Eleonora Calcagno, Gian Michele Ratto, Elena Amendola, Cornelius T Gross, Maurizio Giustetto, Tommaso Pizzoruss. Dendritic Spine Instability in a Mouse Model of CDKL5 Disorder Is Rescued by Insulin-like Growth Factor 1. Biological psychiatry. vol 80. issue 4. 2017-08-30. PMID:26452614. |
cdkl5 (cyclin-dependent kinase-like 5) is mutated in many severe neurodevelopmental disorders, including atypical rett syndrome. |
2017-08-30 |
2023-08-13 |
mouse |
| Zhan Lim, Kingsley Wong, Heather E Olson, Ann M Bergin, Jenny Downs, Helen Leonar. Use of the ketogenic diet to manage refractory epilepsy in CDKL5 disorder: Experience of >100 patients. Epilepsia. vol 58. issue 8. 2017-08-17. PMID:28605011. |
pathogenic variants involving the cdkl5 gene result in a severe epileptic encephalopathy, often later presenting with features similar to rett syndrome. |
2017-08-17 |
2023-08-13 |
Not clear |
| Tommaso Patriarchi, Sonia Amabile, Elisa Frullanti, Elisa Landucci, Caterina Lo Rizzo, Francesca Ariani, Mario Costa, Francesco Olimpico, Johannes W Hell, Flora M Vaccarino, Alessandra Renieri, Ilaria Melon. Imbalance of excitatory/inhibitory synaptic protein expression in iPSC-derived neurons from FOXG1(+/-) patients and in foxg1(+/-) mice. European journal of human genetics : EJHG. vol 24. issue 6. 2017-07-26. PMID:26443267. |
rett syndrome (rtt) is a severe neurodevelopmental disorder associated with mutations in either mecp2, cdkl5 or foxg1. |
2017-07-26 |
2023-08-13 |
mouse |
| Stefania Trazzi, Claudia Fuchs, Rocchina Viggiano, Marianna De Franceschi, Emanuele Valli, Paulina Jedynak, Finn K Hansen, Giovanni Perini, Roberto Rimondini, Thomas Kurz, Renata Bartesaghi, Elisabetta Cian. HDAC4: a key factor underlying brain developmental alterations in CDKL5 disorder. Human molecular genetics. vol 25. issue 18. 2017-07-20. PMID:27466189. |
mutations of the cdkl5 gene lead to cdkl5 disorder, a neurodevelopmental pathology that shares several features with rett syndrome and is characterized by severe intellectual disability. |
2017-07-20 |
2023-08-13 |
mouse |
| Ami Oi, Syouichi Katayama, Naoya Hatano, Yasunori Sugiyama, Isamu Kameshita, Noriyuki Sueyosh. Subcellular distribution of cyclin-dependent kinase-like 5 (CDKL5) is regulated through phosphorylation by dual specificity tyrosine-phosphorylation-regulated kinase 1A (DYRK1A). Biochemical and biophysical research communications. vol 482. issue 2. 2017-05-22. PMID:27840050. |
cyclin-dependent kinase-like 5 (cdkl5) is a ser/thr protein kinase primarily expressed in the central nervous system and is known to cause x-linked neurodevelopmental disorders such as rett syndrome. |
2017-05-22 |
2023-08-13 |
mouse |
| D Záhoráková, M Langová, K Brožová, J Laštůvková, Z Kalina, L Rennerová, P Martáse. Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy. Folia biologica. vol 62. issue 2. 2017-03-08. PMID:27187038. |
novel cdkl5 mutations in czech patients with phenotypes of atypical rett syndrome and early-onset epileptic encephalopathy. |
2017-03-08 |
2023-08-13 |
Not clear |
| D Záhoráková, M Langová, K Brožová, J Laštůvková, Z Kalina, L Rennerová, P Martáse. Novel CDKL5 Mutations in Czech Patients with Phenotypes of Atypical Rett Syndrome and Early-Onset Epileptic Encephalopathy. Folia biologica. vol 62. issue 2. 2017-03-08. PMID:27187038. |
the x-linked cdkl5 gene, which encodes cyclin-dependent kinase-like 5 protein, has been implicated in early-onset encephalopathy and atypical rett syndrome with early-onset seizures. |
2017-03-08 |
2023-08-13 |
Not clear |
| Antonius Christianto, Syouichi Katayama, Isamu Kameshita, Tetsuya Inaz. A novel CDKL5 mutation in a Japanese patient with atypical Rett syndrome. Clinica chimica acta; international journal of clinical chemistry. vol 459. 2017-02-06. PMID:27265524. |
a novel cdkl5 mutation in a japanese patient with atypical rett syndrome. |
2017-02-06 |
2023-08-13 |
Not clear |
| E M Boggio, L Pancrazi, M Gennaro, C Lo Rizzo, F Mari, I Meloni, F Ariani, A Panighini, E Novelli, M Biagioni, E Strettoi, J Hayek, A Rufa, T Pizzorusso, A Renieri, M Cost. Visual impairment in FOXG1-mutated individuals and mice. Neuroscience. vol 324. 2017-01-03. PMID:27001178. |
mutations in foxg1 have been reported to be involved in the onset of rett syndrome, for which sequence alterations of mecp2 and cdkl5 are known. |
2017-01-03 |
2023-08-13 |
mouse |
| E M Boggio, L Pancrazi, M Gennaro, C Lo Rizzo, F Mari, I Meloni, F Ariani, A Panighini, E Novelli, M Biagioni, E Strettoi, J Hayek, A Rufa, T Pizzorusso, A Renieri, M Cost. Visual impairment in FOXG1-mutated individuals and mice. Neuroscience. vol 324. 2017-01-03. PMID:27001178. |
while visual alterations are not classical hallmarks of rett syndrome, an increasing body of evidence shows visual impairment in patients and in mecp2 and cdkl5 animal models. |
2017-01-03 |
2023-08-13 |
mouse |
| Valentina Imperatore, Maria Antonietta Mencarelli, Chiara Fallerini, Laura Bianciardi, Francesca Ariani, Simone Furini, Alessandra Renieri, Francesca Mari, Elisa Frullant. Potentially Treatable Disorder Diagnosed Post Mortem by Exome Analysis in a Boy with Respiratory Distress. International journal of molecular sciences. vol 17. issue 3. 2016-11-04. PMID:26927095. |
he was the half-brother of a girl diagnosed at 7 years with the early-onset seizure variant of rett syndrome due to cdkl5 mutation. |
2016-11-04 |
2023-08-13 |
Not clear |
| Meghana Mangatt, Kingsley Wong, Barbara Anderson, Amy Epstein, Stuart Hodgetts, Helen Leonard, Jenny Down. Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome. Orphanet journal of rare diseases. vol 11. 2016-09-30. PMID:27080038. |
prevalence and onset of comorbidities in the cdkl5 disorder differ from rett syndrome. |
2016-09-30 |
2023-08-13 |
Not clear |
| Meghana Mangatt, Kingsley Wong, Barbara Anderson, Amy Epstein, Stuart Hodgetts, Helen Leonard, Jenny Down. Prevalence and onset of comorbidities in the CDKL5 disorder differ from Rett syndrome. Orphanet journal of rare diseases. vol 11. 2016-09-30. PMID:27080038. |
initially described as an early onset seizure variant of rett syndrome, the cdkl5 disorder is now considered as an independent entity. |
2016-09-30 |
2023-08-13 |
Not clear |