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Select item 89557791.

Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability

Loredana Poeta, Michela Malacarne, Agnese Padula, Denise Drongitis, Lucia Verrillo, Maria Brigida Lioi, Andrea M. Chiariello, Simona Bianco, Mario Nicodemi, Maria Piccione, Emanuela Salzano, Domenico Coviello, Maria Giuseppina Miano

Int J Mol Sci. 2022 Mar; 23(6): 3084. Published online 2022 Mar 13. doi: 10.3390/ijms23063084

PMCID:: PMC8955779

Abstract Article PDF–1.9M

Select item 84237902.

Increased NKX6.1 expression and decreased ARX expression in alpha cells accompany reduced beta-cell volume in human subjects

Yukari Fujita, Junji Kozawa, Kenji Fukui, Hiromi Iwahashi, Hidetoshi Eguchi, Iichiro Shimomura

Sci Rep. 2021; 11: 17796. Published online 2021 Sep 7. doi: 10.1038/s41598-021-97235-1

PMCID:: PMC8423790

Abstract Article PDF–1.9M

Select item 83054123.

Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures

Loredana Poeta, Agnese Padula, Maria Brigida Lioi, Hans van Bokhoven, Maria Giuseppina Miano

Genes (Basel) 2021 Jul; 12(7): 1088. Published online 2021 Jul 18. doi: 10.3390/genes12071088

PMCID:: PMC8305412

Abstract Article PDF–1.6M

Select item 80090484.

Impact of cytosine methylation on DNA binding specificities of human transcription factors

Yimeng Yin, Ekaterina Morgunova, Arttu Jolma, Eevi Kaasinen, Biswajyoti Sahu, Syed Khund-Sayeed, Pratyush K. Das, Teemu Kivioja, Kashyap Dave, Fan Zhong, Kazuhiro R. Nitta, Minna Taipale, Alexander Popov, Paul A. Ginno, Silvia Domcke, Jian Yan, Dirk Schübeler, Charles Vinson, Jussi Taipale

Science. Author manuscript; available in PMC 2021 Mar 30.

Published in final edited form as: Science. 2017 May 5; 356(6337): eaaj2239. doi: 10.1126/science.aaj2239

PMCID:: PMC8009048

Abstract Article PDF–2.6M

Select item 79889005.

Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability

Yousra Benmakhlouf, Renaud Touraine, Ines Harzallah, Zeineb Zian, Kaoutar Ben Makhlouf, Amina Barakat, Naima Ghailani Nourouti, Mohcine Bennani Mechita

BMC Res Notes. 2021; 14: 110. Published online 2021 Mar 23. doi: 10.1186/s13104-021-05526-7

PMCID:: PMC7988900

Abstract Article PDF–831K

Select item 72507936.

Alternative Lengthening of Telomeres and Differential Expression of Endocrine Transcription Factors Distinguish Metastatic and Non-metastatic Insulinomas

Wenzel M. Hackeng, Willemien Schelhaas, Folkert H. M. Morsink, Charlotte M. Heidsma, Susanne van Eeden, Gerlof D. Valk, Menno R. Vriens, Christopher M. Heaphy, Els J. M. Nieveen van Dijkum, G. Johan A. Offerhaus, Koen M. A. Dreijerink, Lodewijk A. A. Brosens

Endocr Pathol. 2020; 31(2): 108–118. Published online 2020 Feb 26. doi: 10.1007/s12022-020-09611-8

PMCID:: PMC7250793

Abstract Article PDF–866K

Select item 70790017.

Assessment of ARX expression, a novel biomarker for metastatic risk in pancreatic neuroendocrine tumors, in endoscopic ultrasound fine‐needle aspiration

Wenzel M. Hackeng, Folkert H. M. Morsink, Leon M. G. Moons, Christopher M. Heaphy, G. Johan A. Offerhaus, Koen M. A. Dreijerink, Lodewijk A. A. Brosens

Diagn Cytopathol. 2020 Apr; 48(4): 308–315. Published online 2019 Dec 17. doi: 10.1002/dc.24368

PMCID:: PMC7079001

Abstract Article PDF–1.2M

Select item 70028758.

Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders

Loredana Poeta, Agnese Padula, Benedetta Attianese, Mariaelena Valentino, Lucia Verrillo, Stefania Filosa, Cheryl Shoubridge, Adriano Barra, Charles E Schwartz, Jesper Christensen, Hans van Bokhoven, Kristian Helin, Maria Brigida Lioi, Patrick Collombat, Jozef Gecz, Lucia Altucci, Elia Di Schiavi, Maria Giuseppina Miano

Hum Mol Genet. 2019 Dec 15; 28(24): 4089–4102. Published online 2019 Nov 6. doi: 10.1093/hmg/ddz254

PMCID:: PMC7002875

Abstract Article PDF–1.4M

Select item 62316429.

Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor

Tessa Mattiske, May H. Tan, Oliver Dearsley, Desiree Cloosterman, Charles S. Hii, Jozef Gécz, Cheryl Shoubridge

PLoS One. 2018; 13(11): e0206914. Published online 2018 Nov 12. doi: 10.1371/journal.pone.0206914

PMCID:: PMC6231642

Abstract Article PDF–3.0M

Select item 602949910.

Basal ganglia involvement in ARX patients: The reason for ARX patients very specific grasping?

Aurore Curie, Gaëlle Friocourt, Vincent des Portes, Alice Roy, Tatjana Nazir, Amandine Brun, Anne Cheylus, Pascale Marcorelles, Kalliroi Retzepi, Nasim Maleki, Gérald Bussy, Yves Paulignan, Anne Reboul, Danielle Ibarrola, Jian Kong, Nouchine Hadjikhani, Annie Laquerrière, Randy L. Gollub

Neuroimage Clin. 2018; 19: 454–465. Published online 2018 Apr 5. doi: 10.1016/j.nicl.2018.04.001

PMCID:: PMC6029499

Abstract Article PDF–4.2M

Select item 598573011.

A new mouse model of ARX dup24 recapitulates the patients’ behavioral and fine motor alterations

Aline Dubos, Hamid Meziane, Giovanni Iacono, Aurore Curie, Fabrice Riet, Christelle Martin, Nadège Loaëc, Marie-Christine Birling, Mohammed Selloum, Elisabeth Normand, Guillaume Pavlovic, Tania Sorg, Henk G Stunnenberg, Jamel Chelly, Yann Humeau, Gaëlle Friocourt, Yann Hérault

Hum Mol Genet. 2018 Jun 15; 27(12): 2138–2153. Published online 2018 Apr 5. doi: 10.1093/hmg/ddy122

PMCID:: PMC5985730

Abstract Article PDF–1.5M

Select item 535809712.

Converting adult pancreatic islet α-cells into β-cells by targeting both Dnmt1 and Arx

Harini Chakravarthy, Xueying Gu, Martin Enge, Xiaoqing Dai, Yong Wang, Nicolas Damond, Carolina Downie, Kathy Liu, Jing Wang, Yuan Xing, Simona Chera, Fabrizio Thorel, Stephen Quake, Jose Oberholzer, Patrick E. MacDonald, Pedro L. Herrera, Seung K. Kim

Cell Metab. Author manuscript; available in PMC 2018 Mar 7.

Published in final edited form as: Cell Metab. 2017 Mar 7; 25(3): 622–634. Published online 2017 Feb 16. doi: 10.1016/j.cmet.2017.01.009

PMCID:: PMC5358097

Abstract Article PDF–2.4M

Select item 493008513.

Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX

Ching Moey, Scott Topper, Mary Karn, Amy Knight Johnson, Soma Das, Jorge Vidaurre, Cheryl Shoubridge

Eur J Hum Genet. 2016 May; 24(5): 681–689. Published online 2015 Aug 26. doi: 10.1038/ejhg.2015.176

PMCID:: PMC4930085

Abstract Article PDF–2.7M

Select item 482644214.

Mutation screening of the ARX gene in patients with autism

Pauline Chaste, Gudrun Nygren, Henrik Anckarsäter, Maria Råstam, Mary Coleman, Marion Leboyer, Christopher Gillberg, Catalina Betancur

Am J Med Genet B Neuropsychiatr Genet. Author manuscript;

Published in final edited form as: Am J Med Genet B Neuropsychiatr Genet. 2007 Mar; 144(2): 228–230. doi: 10.1002/ajmg.b.30440

PMCID:: PMC4826442

Abstract Article

Select item 474659515.

Redifferentiation of expanded human islet β cells by inhibition of ARX

Orr Friedman-Mazursky, Ran Elkon, Shimon Efrat

Sci Rep. 2016; 6: 20698. Published online 2016 Feb 9. doi: 10.1038/srep20698

PMCID:: PMC4746595

Abstract Article PDF–1.9M

Select item 466913216.

The Role of ARX in Human Pancreatic Endocrine Specification

Blair K. Gage, Ali Asadi, Robert K. Baker, Travis D. Webber, Rennian Wang, Masayuki Itoh, Masaharu Hayashi, Rie Miyata, Takumi Akashi, Timothy J. Kieffer

PLoS One. 2015; 10(12): e0144100. Published online 2015 Dec 3. doi: 10.1371/journal.pone.0144100

PMCID:: PMC4669132

Abstract Article PDF–14M

Select item 453743817.

Conditional Loss of Arx From the Developing Dorsal Telencephalon Results in Behavioral Phenotypes Resembling Mild Human ARX Mutations

Jacqueline C. Simonet, C. Nicole Sunnen, Jue Wu, Jeffrey A. Golden, Eric D. Marsh

Cereb Cortex. 2015 Sep; 25(9): 2939–2950. Published online 2014 May 2. doi: 10.1093/cercor/bhu090

PMCID:: PMC4537438

Abstract Article PDF–743K

Select item 430849518.

Dysgenesis of Enteroendocrine Cells in Aristaless-Related Homeobox Polyalanine Expansion Mutations

Natalie A. Terry, Randall A. Lee, Erik R. Walp, Klaus H. Kaestner, Catherine Lee May

J Pediatr Gastroenterol Nutr. 2015 Feb; 60(2): 192–199. Published online 2015 Jan 30. doi: 10.1097/MPG.0000000000000542

PMCID:: PMC4308495

Abstract Article PDF–742K

Select item 401626119.

The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia

Aurore Curie, Tatjana Nazir, Amandine Brun, Yves Paulignan, Anne Reboul, Karine Delange, Anne Cheylus, Sophie Bertrand, Fanny Rochefort, Gérald Bussy, Stéphanie Marignier, Didier Lacombe, Catherine Chiron, Mireille Cossée, Bruno Leheup, Christophe Philippe, Vincent Laugel, Anne De Saint Martin, Silvia Sacco, Karine Poirier, Thierry Bienvenu, Isabelle Souville, Brigitte Gilbert-Dussardier, Eric Bieth, Didier Kauffmann, Philippe Briot, Bénédicte de Fréminville, Fabienne Prieur, Michel Till, Caroline Rooryck-Thambo, Isabelle Mortemousque, Isabelle Bobillier-Chaumont, Annick Toutain, Renaud Touraine, Damien Sanlaville, Jamel Chelly, Sonya Freeman, Jian Kong, Nouchine Hadjikhani, Randy L Gollub, Alice Roy, Vincent des Portes

Orphanet J Rare Dis. 2014; 9: 25. Published online 2014 Feb 14. doi: 10.1186/1750-1172-9-25

PMCID:: PMC4016261

Abstract Article PDF–2.9M

Select item 384483020.

Arx Is a Direct Target of Dlx2 and Thereby Contributes to the Tangential Migration of GABAergic Interneurons

Gaia Colasante, Patrick Collombat, Valentina Raimondi, Dario Bonanomi, Carmelo Ferrai, Mario Maira, Kazuaki Yoshikawa, Ahmed Mansouri, Flavia Valtorta, John L. R. Rubenstein, Vania Broccoli

J Neurosci. 2008 Oct 15; 28(42): 10674–10686. doi: 10.1523/JNEUROSCI.1283-08.2008

PMCID:: PMC3844830

Abstract Article PDF–825K

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