| Further characterisation of ARX-related disorders in females due to inherited or de novo variants. | Further characterisation of ARX-related disorders in females due to inherited or de novo variants.
Gras M, Heide S, Keren B, Valence S, Garel C, Whalen S, Jansen AC, Keymolen K, Stouffs K, Jennesson M, Poirsier C, Lesca G, Depienne C, Nava C, Rastetter A, Curie A, Cuisset L, Des Portes V, Milh M, Charles P, Mignot C, Héron D. | 01/26/2024 |
| Predicting recurrence in pancreatic neuroendocrine tumours: role of ARX and alternative lengthening of telomeres (ALT). | Predicting recurrence in pancreatic neuroendocrine tumours: role of ARX and alternative lengthening of telomeres (ALT).
Neyaz A, Crotty R, Rickelt S, Pankaj A, Stojanova M, Michelakos TP, Sekigami Y, Kontos F, Parrack PH, Patil DT, Heaphy CM, Ferrone CR, Deshpande V. | 09/18/2023 |
| Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability. | Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability.
Poeta L, Malacarne M, Padula A, Drongitis D, Verrillo L, Lioi MB, Chiariello AM, Bianco S, Nicodemi M, Piccione M, Salzano E, Coviello D, Miano MG., Free PMC Article | 04/16/2022 |
| Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures. | Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures.
Poeta L, Padula A, Lioi MB, van Bokhoven H, Miano MG., Free PMC Article | 02/19/2022 |
| Increased NKX6.1 expression and decreased ARX expression in alpha cells accompany reduced beta-cell volume in human subjects. | Increased NKX6.1 expression and decreased ARX expression in alpha cells accompany reduced beta-cell volume in human subjects.
Fujita Y, Kozawa J, Fukui K, Iwahashi H, Eguchi H, Shimomura I., Free PMC Article | 11/22/2021 |
| Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance. | Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.
Thai MHN, Gardner A, Redpath L, Mattiske T, Dearsley O, Shaw M, Vulto-van Silfhout AT, Pfundt R, Dixon J, McGaughran J, Pérez-Jurado LA, Gécz J, Shoubridge C. | 11/13/2021 |
| Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability. | Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability.
Benmakhlouf Y, Touraine R, Harzallah I, Zian Z, Ben Makhlouf K, Barakat A, Ghailani Nourouti N, Bennani Mechita M., Free PMC Article | 08/28/2021 |
| Generation of a homozygous ARX nuclear CFP (ARX(nCFP/nCFP)) reporter human iPSC line (HMGUi001-A-4). | Generation of a homozygous ARX nuclear CFP (ARX(nCFP/nCFP)) reporter human iPSC line (HMGUi001-A-4).
Moya N, Shahryari A, Burtscher I, Beckenbauer J, Bakhti M, Lickert H. | 08/7/2021 |
| Alternative Lengthening of Telomeres and Differential Expression of Endocrine Transcription Factors Distinguish Metastatic and Non-metastatic Insulinomas. | Alternative Lengthening of Telomeres and Differential Expression of Endocrine Transcription Factors Distinguish Metastatic and Non-metastatic Insulinomas.
Hackeng WM, Schelhaas W, Morsink FHM, Heidsma CM, van Eeden S, Valk GD, Vriens MR, Heaphy CM, Nieveen van Dijkum EJM, Offerhaus GJA, Dreijerink KMA, Brosens LAA., Free PMC Article | 03/27/2021 |
| Assessment of ARX expression, a novel biomarker for metastatic risk in pancreatic neuroendocrine tumors, in endoscopic ultrasound fine-needle aspiration. | Assessment of ARX expression, a novel biomarker for metastatic risk in pancreatic neuroendocrine tumors, in endoscopic ultrasound fine-needle aspiration.
Hackeng WM, Morsink FHM, Moons LMG, Heaphy CM, Offerhaus GJA, Dreijerink KMA, Brosens LAA., Free PMC Article | 11/21/2020 |
| The maternal immune activation model uncovers a role for the Arx gene in GABAergic dysfunction in schizophrenia. | The maternal immune activation model uncovers a role for the Arx gene in GABAergic dysfunction in schizophrenia.
Nakamura JP, Schroeder A, Hudson M, Jones N, Gillespie B, Du X, Notaras M, Swaminathan V, Reay WR, Atkins JR, Green MJ, Carr VJ, Cairns MJ, Sundram S, Hill RA. | 08/13/2020 |
| A novel splice variant in ARX has been identified in a family with three affected individuals leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy. | Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy.
Shoubridge C, Jackson M, Grinton B, Berkovic SF, Scheffer IE, Huskins S, Thomas A, Ware T. | 08/13/2020 |
| Disruption and mutation of aristaless-related homeobox (ARX) are found to lead to the deletion and reduction of alpha-cells both in mice models and in humans [Review]. | Present status and expectation of aristaless-related homeobox (ARX) in endocrine pancreas.
Xu S, Xu JP. | 06/27/2020 |
| Study has demonstrated that ARX is a novel substrate of PRKCA, with phosphorylation at serine 174, and that the c-terminal region of ARX required to bind PICK1. Binding causes a shift in PICK1 subcellular localization to the nucleus to co-locate with the ARX protein, and truncation of this C-terminal region leads to the same loss of transcriptional activation as S174A mutant. | Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor.
Mattiske T, Tan MH, Dearsley O, Cloosterman D, Hii CS, Gécz J, Shoubridge C., Free PMC Article | 04/13/2019 |
| Mutations of ARX are associated with non-syndromic intellectual disability in Chinese population. | Mutations of ARX and non-syndromic intellectual disability in Chinese population.
Wu Y, Zhang H, Liu X, Shi Z, Li H, Wang Z, Jie X, Huang S, Zhang F, Li J, Zhang K, Gao X. | 03/30/2019 |
| we highlighted striking similarities between the mouse phenotype and a cohort of 33 male patients with ARX c.428_451dup24, suggesting that this new mutant mouse line is a good model for understanding the pathophysiology and evaluation of treatment. | A new mouse model of ARX dup24 recapitulates the patients' behavioral and fine motor alterations.
Dubos A, Meziane H, Iacono G, Curie A, Riet F, Martin C, Loaëc N, Birling MC, Selloum M, Normand E, Pavlovic G, Sorg T, Stunnenberg HG, Chelly J, Humeau Y, Friocourt G, Hérault Y., Free PMC Article | 03/2/2019 |
| although ARX expression strongly decreases towards the end of gestation, it is still present after birth in some neurons of the basal ganglia, thalamus and cerebral cortex | Basal ganglia involvement in ARX patients: The reason for ARX patients very specific grasping?
Curie A, Friocourt G, des Portes V, Roy A, Nazir T, Brun A, Cheylus A, Marcorelles P, Retzepi K, Maleki N, Bussy G, Paulignan Y, Reboul A, Ibarrola D, Kong J, Hadjikhani N, Laquerrière A, Gollub RL., Free PMC Article | 02/2/2019 |
| ARX gene mutation c.88G>T is associated with X-Linked intellectual disability. | [Whole exome sequencing analysis for a Chinese pedigree affected with X-Linked intellectual disability].
Tang S, Jia M, Chen C, Li H, Hu L, Luan Z, Xu X, Lyu J. | 12/22/2018 |
| ARX is not associated with endometriosis and cannot be used as a biomarker for ovarian endometriosis. ARX is present in ovarian stroma and cells derived from ovarian stroma as well as in all types of sex cord-stromal tumors of the ovary. | Detection of Aristaless-related homeobox protein in ovarian sex cord-stromal tumors.
Knific T, Frković Grazio S, Rižner TL. | 09/29/2018 |
| Arx and Dnmt1 that are sufficient for achieving targeted generation of beta cells from adult pancreatic alpha cells. | Converting Adult Pancreatic Islet α Cells into β Cells by Targeting Both Dnmt1 and Arx.
Chakravarthy H, Gu X, Enge M, Dai X, Wang Y, Damond N, Downie C, Liu K, Wang J, Xing Y, Chera S, Thorel F, Quake S, Oberholzer J, MacDonald PE, Herrera PL, Kim SK., Free PMC Article | 07/15/2017 |
| We review the reported phenotypes of females with mutations in ARX and highlight the importance of screening ARX in male and female patients with ID, seizures, and in particular with complete ACC. | An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX.
Mattiske T, Moey C, Vissers LE, Thorne N, Georgeson P, Bakshi M, Shoubridge C. | 07/1/2017 |
| We propose a core pathway of transcription regulators, including Hdac4, involved in chromatin condensation and transcriptional repression, and one of its targets, the transcription factor Twist1, as potential drivers of the ID and infantile spasms in patients with ARX polyalanine expansion mutations | Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene.
Mattiske T, Lee K, Gecz J, Friocourt G, Shoubridge C. | 06/10/2017 |
| ARX inhibition in expanded alpha-cell-derived cells treated with RC did not cause their transdifferentiation into insulin-producing cells. | Redifferentiation of expanded human islet β cells by inhibition of ARX.
Friedman-Mazursky O, Elkon R, Efrat S., Free PMC Article | 12/31/2016 |
| Novel c.34G>T (p.(E12*)) variant was identified in the ARX gene in two male patients with early-onset infantile spasms. This variant reinitiated mRNA translation at the next AUG codon. | Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX.
Moey C, Topper S, Karn M, Johnson AK, Das S, Vidaurre J, Shoubridge C., Free PMC Article | 12/31/2016 |
| ARX plays a key role in pancreatic endocrine fate specification of pancreatic polypeptide, somatostatin, glucagon and insulin positive cells from human embryonic stem cells. | The Role of ARX in Human Pancreatic Endocrine Specification.
Gage BK, Asadi A, Baker RK, Webber TD, Wang R, Itoh M, Hayashi M, Miyata R, Akashi T, Kieffer TJ., Free PMC Article | 07/2/2016 |