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Select item 103603901.

A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects

Rebekah Tillotson, Keqin Yan, Julie Ruston, Taylor DeYoung, Alex Córdova, Valérie Turcotte-Cardin, Yohan Yee, Christine Taylor, Shagana Visuvanathan, Christian Babbs, Evgueni A Ivakine, John G Sled, Brian J Nieman, David J Picketts, Monica J Justice

Hum Mol Genet. 2023 Aug 1; 32(15): 2485–2501. Published online 2023 May 12. doi: 10.1093/hmg/ddad075

PMCID:: PMC10360390

Abstract Article PDF–1.7M

Select item 96018102.

Phenotypic Spectrum and Molecular Findings in 17 ATR-X Syndrome Italian Patients: Some New Insights

Alessandro Vaisfeld, Sara Taormina, Alessandro Simonati, Giovanni Neri

Genes (Basel) 2022 Oct; 13(10): 1792. Published online 2022 Oct 4. doi: 10.3390/genes13101792

PMCID:: PMC9601810

Abstract Article PDF–854K

Select item 75218413.

Inherited germline ATRX mutation in two brothers with ATR-X syndrome and osteosarcoma

Jianling Ji, Catherine Quindipan, David Parham, Lishuang Shen, David Ruble, Moiz Bootwalla, Dennis T. Maglinte, Xiaowu Gai, Sulagna C. Saitta, Jaclyn A. Biegel, Leo Mascarenhas

Am J Med Genet A. Author manuscript; available in PMC 2020 Sep 28.

Published in final edited form as: Am J Med Genet A. 2017 May; 173(5): 1390–1395. Published online 2017 Mar 28. doi: 10.1002/ajmg.a.38184

PMCID:: PMC7521841

Abstract Article PDF–957K

Select item 60579774.

Does ATRX germline variation predispose to osteosarcoma? Three additional cases of osteosarcoma in two ATR-X syndrome patients

Julien Masliah-Planchon, Dominique Lévy, Delphine Héron, Fabienne Giuliano, Catherine Badens, Paul Fréneaux, Louise Galmiche, Jean-Marc Guinebretierre, Cécile Cellier, Joshua J. Waterfall, Khadija Aït-Raïs, Gaëlle Pierron, Christophe Glorion, Isabelle Desguerre, Christine Soler, Anne Deville, Olivier Delattre, Jean Michon, Franck Bourdeaut

Eur J Hum Genet. 2018 Aug; 26(8): 1217–1221. Published online 2018 Apr 30. doi: 10.1038/s41431-018-0147-x

PMCID:: PMC6057977

Abstract Article PDF–800K

Select item 32372475.

ATR-X syndrome in two siblings with a novel mutation (c.6718C>T mutation in exon 31)

Seema Thakur, Mala Ishrie, Renu Saxena, Sumita Danda, Rose Linda, Auro Viswabandya, I.C. Verma

Indian J Med Res. 2011 Oct; 134(4): 483–486.

PMCID:: PMC3237247

Abstract Article PDF–880K

Select item 30128416.

The First Case of X-linked Alpha-thalassemia/Mental Retardation (ATR-X) Syndrome in Korea

Ki Wook Yun, Soo Ahn Chae, Jung Ju Lee, Sin Weon Yun, Byoung Hoon Yoo, In Seok Lim, Eung Sang Choi, Mi-Kyung Lee

J Korean Med Sci. 2011 Jan; 26(1): 146–149. Published online 2010 Dec 22. doi: 10.3346/jkms.2011.26.1.146

PMCID:: PMC3012841

Abstract Article PDF–1.2M

Select item 19150467.

A novel mutation in the putative DNA helicase XH2 is responsible for male-to-female sex reversal associated with an atypical form of the ATR-X syndrome.

A. Ion, L. Telvi, J. L. Chaussain, F. Galacteros, J. Valayer, M. Fellous, K. McElreavey

Am J Hum Genet. 1996 Jun; 58(6): 1185–1191.

PMCID:: PMC1915046

Summary Page Browse PDF–1.4M

Select item 17343318.

Evaluation of a mutation screening strategy for sporadic cases of ATR-X syndrome

L. Villard, M. Bonino, F. Abidi, A. Ragusa, J. Belougne, A. Lossi, L. Seaver, J. Bonnefont, C. Romano, M. Fichera, D. Lacombe, A. Hanauer, N. Philip, C. Schwartz, M. Fontes

J Med Genet. 1999 Mar; 36(3): 183–186.

PMCID:: PMC1734331

Summary PDF–137K

Select item 16828409.

X-linked alpha-thalassemia/mental retardation (ATR-X) syndrome: localization to Xq12-q21.31 by X inactivation and linkage analysis.

R J Gibbons, G K Suthers, A O Wilkie, V J Buckle, D R Higgs

Am J Hum Genet. 1992 Nov; 51(5): 1136–1149.

PMCID:: PMC1682840

Summary Page Browse PDF–2.1M

Select item 1101549710.

Y chromosome damage underlies testicular abnormalities in ATR-X syndrome

Nayla Y. León, Thanh Nha Uyen Le, Andrew Garvie, Lee H. Wong, Stefan Bagheri-Fam, Vincent R. Harley

iScience. 2024 May 17; 27(5): 109629. Published online 2024 Mar 28. doi: 10.1016/j.isci.2024.109629

PMCID:: PMC11015497

Abstract Article PDF–4.6M

Select item 1101491411.

Combined deletion of MEN1, ATRX and PTEN triggers development of high-grade pancreatic neuroendocrine tumors in mice

Mary Esmeralda Fuentes, Xiaoyin Lu, Natasha M. Flores, Simone Hausmann, Pawel K. Mazur

Sci Rep. 2024; 14: 8510. Published online 2024 Apr 12. doi: 10.1038/s41598-024-58874-2

PMCID:: PMC11014914

Abstract Article PDF–1.7M

Select item 1085378012.

DAXX promotes centromeric stability independently of ATRX by preventing the accumulation of R-loop-induced DNA double-stranded breaks

Lia M Pinto, Alexandros Pailas, Max Bondarchenko, Abhishek Bharadwaj Sharma, Katrin Neumann, Anthony J Rizzo, Céline Jeanty, Nathalie Nicot, Carine Racca, Mindy K Graham, Catherine Naughton, Yaqun Liu, Chun-Long Chen, Paul J Meakin, Nick Gilbert, Sébastien Britton, Alan K Meeker, Christopher M Heaphy, Florence Larminat, Eric Van Dyck

Nucleic Acids Res. 2024 Feb 9; 52(3): 1136–1155. Published online 2023 Dec 1. doi: 10.1093/nar/gkad1141

PMCID:: PMC10853780

Abstract Article PDF–2.5M

Select item 1085024513.

Effects of p53 and ATRX inhibition on telomeric recombination in aging fibroblasts

Ion Udroiu, Jessica Marinaccio, Antonella Sgura

Front Oncol. 2024; 14: 1322438. Published online 2024 Jan 25. doi: 10.3389/fonc.2024.1322438

PMCID:: PMC10850245

Abstract Article PDF–5.3M

Select item 1081763514.

Nuclear Distribution of the Chromatin-Remodeling Protein ATRX in Mouse Early Embryos during Normal Development and Developmental Arrest In Vitro

Irina O. Bogolyubova, Zhuldyz K. Sailau, Dmitry S. Bogolyubov

Life (Basel) 2024 Jan; 14(1): 5. Published online 2023 Dec 19. doi: 10.3390/life14010005

PMCID:: PMC10817635

Abstract Article PDF–3.1M

Select item 1081084315.

Interplay between ATRX and IDH1 mutations governs innate immune responses in diffuse gliomas

Seethalakshmi Hariharan, Benjamin T. Whitfield, Christopher J. Pirozzi, Matthew S. Waitkus, Michael C. Brown, Michelle L. Bowie, David M. Irvin, Kristen Roso, Rebecca Fuller, Janell Hostettler, Sharvari Dharmaiah, Emiley A. Gibson, Aaron Briley, Avani Mangoli, Casey Fraley, Mariah Shobande, Kevin Stevenson, Gao Zhang, Prit Benny Malgulwar, Hannah Roberts, Martin Roskoski, Ivan Spasojevic, Stephen T. Keir, Yiping He, Maria G. Castro, Jason T. Huse, David M. Ashley

Nat Commun. 2024; 15: 730. Published online 2024 Jan 25. doi: 10.1038/s41467-024-44932-w

PMCID:: PMC10810843

Abstract Article PDF–5.6M

Select item 1078147416.

ATRX is a predictive marker for endocrinotherapy and chemotherapy resistance in HER2-/HR+ breast cancer through the regulation of the AR, GLI3 and GATA2 transcriptional network

Hongyan Qian, Rui Ji, Cheng Shen, Yinze Wei, Chenyi Sheng, Qichao Ni, Jing Pan, Yifan Chi, Huan You, Ying Miao, Minxin Shi, Xianghua Huang, Aiguo Shen

Aging (Albany NY) 2023 Dec 31; 15(24): 14996–15024. Published online 2023 Dec 20. doi: 10.18632/aging.205327

PMCID:: PMC10781474

Abstract Article PDF–5.8M

Select item 1074142817.

Telomere Maintenance Mechanisms in a Cohort of High-Risk Neuroblastoma Tumors and Its Relation to Genomic Variants in the TERT and ATRX Genes

Anna Djos, Ketan Thombare, Roshan Vaid, Jennie Gaarder, Ganesh Umapathy, Susanne E. Reinsbach, Kleopatra Georgantzi, Jakob Stenman, Helena Carén, Torben Ek, Tanmoy Mondal, Per Kogner, Tommy Martinsson, Susanne Fransson

Cancers (Basel) 2023 Dec; 15(24): 5732. Published online 2023 Dec 7. doi: 10.3390/cancers15245732

PMCID:: PMC10741428

Abstract Article PDF–3.8M

Select item 1067110918.

Multiple Roles of dXNP and dADD1—Drosophila Orthologs of ATRX Chromatin Remodeler

Larisa Melnikova, Anton Golovnin

Int J Mol Sci. 2023 Nov; 24(22): 16486. Published online 2023 Nov 18. doi: 10.3390/ijms242216486

PMCID:: PMC10671109

Abstract Article PDF–2.5M

Select item 1065934719.

Loss of function of Atrx leads to activation of alternative lengthening of telomeres in a primary mouse model of sarcoma

Matthew Pierpoint, Warren Floyd, Amy J. Wisdom, Lixia Luo, Yan Ma, Matthew S. Waitkus, David G. Kirsch

Version 1. bioRxiv. Preprint. 2023 Nov 6. doi: 10.1101/2023.11.06.565874

PMCID:: PMC10659347

Abstract Article PDF–1.3M

Select item 1064449820.

A mouse model of ATRX deficiency with cognitive deficits and autistic traits

Katherine M. Quesnel, Nicole Martin-Kenny, Nathalie G. Bérubé

J Neurodev Disord. 2023; 15: 39. Published online 2023 Nov 13. doi: 10.1186/s11689-023-09508-7

PMCID:: PMC10644498

Abstract Article PDF–3.8M

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