| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Lin Lin, Jing Ding, Simeng Liu, Chunying Liu, Qing Li, Xiang Gao, Yamei Niu, Wei-Min Ton. Protein Phosphatase 2ACα Regulates ATR-Mediated Endogenous DNA Damage Response Against Microcephaly. Molecular neurobiology. 2024-07-08. PMID:38976130. |
taken together, our results indicate an essential function of pp2acα in endogenous dna damage response-mediated atr signaling during neurogenesis, and defective pp2acα in neurons contributes to microcephaly. |
2024-07-08 |
2024-07-11 |
mouse |
| Murat Kirtay, Josefine Sell, Christian Marx, Holger Haselmann, Mihai Ceanga, Zhong-Wei Zhou, Vahid Rahmati, Joanna Kirkpatrick, Katrin Buder, Paulius Grigaravicius, Alessandro Ori, Christian Geis, Zhao-Qi Wan. ATR regulates neuronal activity by modulating presynaptic firing. Nature communications. vol 12. issue 1. 2021-07-22. PMID:34210973. |
hypomorphic mutations of atr cause the human atr-seckel syndrome, characterized by microcephaly and intellectual disability, which however suggests a yet unknown role for atr in non-dividing cells. |
2021-07-22 |
2023-08-13 |
mouse |
| Marta Llorens-Agost, Janna Luessing, Amandine van Beneden, John Eykelenboom, Dawn O'Reilly, Louise S Bicknell, John J Reynolds, Marianne van Koegelenberg, Matthew E Hurles, Angela F Brady, Andrew P Jackson, Grant S Stewart, Noel F Lownde. Analysis of novel missense ATR mutations reveals new splicing defects underlying Seckel syndrome. Human mutation. vol 39. issue 12. 2019-10-07. PMID:30199583. |
mutations of the atr gene have been reported in seckel patients, who suffer from a rare genetic disease characterized by severe microcephaly and growth retardation. |
2019-10-07 |
2023-08-13 |
Not clear |
| Patrick Y Lang, Timothy R Gersho. A New Way to Treat Brain Tumors: Targeting Proteins Coded by Microcephaly Genes?: Brain tumors and microcephaly arise from opposing derangements regulating progenitor growth. Drivers of microcephaly could be attractive brain tumor targets. BioEssays : news and reviews in molecular, cellular and developmental biology. vol 40. issue 5. 2019-05-06. PMID:29577351. |
the potential for the products of microcephaly genes to be therapeutic targets in brain tumors are highlighted hereby reviewing research on eg5, kif14, aspm, cdk6, and atr. |
2019-05-06 |
2023-08-13 |
Not clear |
| Jose Ichisima, Naoya M Suzuki, Bumpei Samata, Tomonari Awaya, Jun Takahashi, Masatoshi Hagiwara, Tatsutoshi Nakahata, Megumu K Sait. Verification and rectification of cell type-specific splicing of a Seckel syndrome-associated ATR mutation using iPS cell model. Journal of human genetics. vol 64. issue 5. 2019-04-17. PMID:30846821. |
this mutation is considered the cause of an impaired response to dna replication stress, the main function of atr, contributing to the pathogenesis of microcephaly. |
2019-04-17 |
2023-08-13 |
human |
| Sarah J Dean, Kenton R Holden, Alka Dwivedi, Barbara R Dupont, Michael J Lyon. Acquired microcephaly in blepharophimosis-ptosis-epicanthus inversus syndrome because of an interstitial 3q22.3q23 deletion. Pediatric neurology. vol 50. issue 6. 2015-01-06. PMID:24725350. |
the atr gene has been reported as a candidate gene for microcephaly in individuals with contiguous deletion of chromosome 3q involving the foxl2 gene. |
2015-01-06 |
2023-08-13 |
Not clear |
| Lourdes Valdés-Sánchez, Berta De la Cerda, Francisco J Diaz-Corrales, Simone Massalini, Christina F Chakarova, Alan F Wright, Shomi S Bhattachary. ATR localizes to the photoreceptor connecting cilium and deficiency leads to severe photoreceptor degeneration in mice. Human molecular genetics. vol 22. issue 8. 2013-09-03. PMID:23297361. |
atr deficit is known to cause seckel syndrome, characterized by severe proportionate short stature and microcephaly. |
2013-09-03 |
2023-08-12 |
mouse |
| Houda Mokrani-Benhelli, Laetitia Gaillard, Patricia Biasutto, Tangui Le Guen, Fabien Touzot, Nadia Vasquez, Jun Komatsu, Emmanuel Conseiller, Capucine Pïcard, Eliane Gluckman, Christine Francannet, Alain Fischer, Anne Durandy, Jean Soulier, Jean-Pierre de Villartay, Marina Cavazzana-Calvo, Patrick Rev. Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations. Human mutation. vol 34. issue 2. 2013-07-26. PMID:23111928. |
primary microcephaly, impaired dna replication, and genomic instability caused by compound heterozygous atr mutations. |
2013-07-26 |
2023-08-12 |
human |
| Houda Mokrani-Benhelli, Laetitia Gaillard, Patricia Biasutto, Tangui Le Guen, Fabien Touzot, Nadia Vasquez, Jun Komatsu, Emmanuel Conseiller, Capucine Pïcard, Eliane Gluckman, Christine Francannet, Alain Fischer, Anne Durandy, Jean Soulier, Jean-Pierre de Villartay, Marina Cavazzana-Calvo, Patrick Rev. Primary microcephaly, impaired DNA replication, and genomic instability caused by compound heterozygous ATR mutations. Human mutation. vol 34. issue 2. 2013-07-26. PMID:23111928. |
here, we report the first case of primary microcephaly with compound heterozygous mutations in atr: a 540 kb genomic deletion on one allele and a missense mutation leading to splice dysregulation on the other, which ultimately lead to a sharp decrease in atr expression. |
2013-07-26 |
2023-08-12 |
human |
| Pooja Singhmar, Arun Kuma. Angelman syndrome protein UBE3A interacts with primary microcephaly protein ASPM, localizes to centrosomes and regulates chromosome segregation. PloS one. vol 6. issue 5. 2011-09-30. PMID:21633703. |
microcephalic osteodysplastic primordial dwarfism type ii protein pcnt and seckel syndrome (also characterized by severe microcephaly) protein atr are also centrosomal proteins. |
2011-09-30 |
2023-08-12 |
human |
| Alexandra Tibelius, Joachim Marhold, Hanswalter Zentgraf, Christoph E Heilig, Heidemarie Neitzel, Bernard Ducommun, Anita Rauch, Anthony D Ho, Jiri Bartek, Alwin Kräme. Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1. The Journal of cell biology. vol 185. issue 7. 2009-07-20. PMID:19546241. |
although primary microcephaly can be caused by mutations in microcephalin (mcph1), cells from patients with seckel syndrome and mopd ii harbor mutations in ataxia telangiectasia and rad3 related (atr) or pericentrin (pcnt), leading to disturbed atr signaling. |
2009-07-20 |
2023-08-12 |
Not clear |
| Tom Stiff, Karen Cerosaletti, Patrick Concannon, Mark O'Driscoll, Penny A Jegg. Replication independent ATR signalling leads to G2/M arrest requiring Nbs1, 53BP1 and MDC1. Human molecular genetics. vol 17. issue 20. 2008-11-12. PMID:18664457. |
replication-independent g2/m checkpoint arrest represents a suitable assay to specifically identify patients with defective atr signalling, including seckel syndrome, nijmegen breakage syndrome and mcph-1-dependent primary microcephaly. |
2008-11-12 |
2023-08-12 |
Not clear |
| Tom Stiff, Karen Cerosaletti, Patrick Concannon, Mark O'Driscoll, Penny A Jegg. Replication independent ATR signalling leads to G2/M arrest requiring Nbs1, 53BP1 and MDC1. Human molecular genetics. vol 17. issue 20. 2008-11-12. PMID:18664457. |
defects in atr signalling have been reported in several disorders characterized by microcephaly and growth delay. |
2008-11-12 |
2023-08-12 |
Not clear |
| Mark O'Driscoll, William B Dobyns, Johanna M van Hagen, Penny A Jegg. Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling. American journal of human genetics. vol 81. issue 1. 2007-09-04. PMID:17564965. |
impaired atr signaling is also observed in cell lines from additional disorders characterized by microcephaly and growth delay, including non-atr-ss, nijmegen breakage syndrome, and mcph1 (microcephaly, primary autosomal recessive, 1)-dependent primary microcephaly. |
2007-09-04 |
2023-08-12 |
human |
| Mark O'Driscoll, William B Dobyns, Johanna M van Hagen, Penny A Jegg. Cellular and clinical impact of haploinsufficiency for genes involved in ATR signaling. American journal of human genetics. vol 81. issue 1. 2007-09-04. PMID:17564965. |
ataxia telangiectasia and rad3-related (atr) protein, a kinase that regulates a dna damage-response pathway, is mutated in atr-seckel syndrome (atr-ss), a disorder characterized by severe microcephaly and growth delay. |
2007-09-04 |
2023-08-12 |
human |
| Gemma K Alderton, Laura Galbiati, Elen Griffith, Katharina H Surinya, Heidemarie Neitzel, Andrew P Jackson, Penny A Jeggo, Mark O'Driscol. Regulation of mitotic entry by microcephalin and its overlap with ATR signalling. Nature cell biology. vol 8. issue 7. 2006-08-30. PMID:16783362. |
ataxia-telangiectasia mutated and rad3 related (atr)-seckel syndrome and autosomal recessive primary microcephaly (mcph) syndrome share clinical features. |
2006-08-30 |
2023-08-12 |
Not clear |
| Shiaw-Yih Lin, Rekha Rai, Kaiyi Li, Zhi-Xiang Xu, Stephen J Elledg. BRIT1/MCPH1 is a DNA damage responsive protein that regulates the Brca1-Chk1 pathway, implicating checkpoint dysfunction in microcephaly. Proceedings of the National Academy of Sciences of the United States of America. vol 102. issue 42. 2005-12-05. PMID:16217032. |
the ataxia telangiectasia mutated-rad3 related (atr)-chk1 pathway is defective in seckel syndrome, another microcephaly disorder. |
2005-12-05 |
2023-08-12 |
human |
| M H de Ru, J J P Gille, A W M Nieuwint, J B Bijlsma, J F van der Blij, J M van Hage. Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature. American journal of medical genetics. Part A. vol 137. issue 1. 2005-08-22. PMID:16015581. |
atr has been identified as a candidate gene for seckel syndrome, an autosomal recessive syndrome that comprises growth retardation, microcephaly, and mental retardation. |
2005-08-22 |
2023-08-12 |
Not clear |
| M H de Ru, J J P Gille, A W M Nieuwint, J B Bijlsma, J F van der Blij, J M van Hage. Interstitial deletion in 3q in a patient with blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) and microcephaly, mild mental retardation and growth delay: clinical report and review of the literature. American journal of medical genetics. Part A. vol 137. issue 1. 2005-08-22. PMID:16015581. |
we hypothesize that our patient has a contiguous gene syndrome and that the non-bpes-associated abnormalities (microcephaly, mild mental retardation, and growth delay) are the result of the deletion of the maternal atr gene. |
2005-08-22 |
2023-08-12 |
Not clear |