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■ Abbreviation / Long Form : ARX / Aristaless-related homeobox

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Total Number of Papers: 107
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Abbreviation:   ARX  (>> Co-occurring Abbreviation)
Long Form:   Aristaless-related homeobox
 Abbreviation Variation
 Long Form Variation
 Pair(Abbreviation/Long Form) Variation
No. Year Title Co-occurring Abbreviation
2022 Bmi1 suppresses protein synthesis and promotes proteostasis in hematopoietic stem cells. HSCs
2022 Deregulation of microtubule organization and RNA metabolism in Arx models for lissencephaly and developmental epileptic encephalopathy. AS, DEE1, XLAG
2022 Further Delineation of Duplications of ARX Locus Detected in Male Patients with Varying Degrees of Intellectual Disability. CNVs, ID, NDDs
2022 Generation of FLAG-tagged Arx knock-in mouse model. ---
2021 Analysis of a Set of KDM5C Regulatory Genes Mutated in Neurodevelopmental Disorders Identifies Temporal Coexpression Brain Signatures. ASD, ID, LCLs, NDDs, PHF8, ZNF711
2021 Early 17β-estradiol treatment reduces seizures but not abnormal behaviour in mice with expanded polyalanine tracts in the Aristaless related homeobox gene (ARX). ---
2021 Generation of an induced pluripotent stem cell line from an Ohtahara syndrome patient with the hemizygous mutation p.Q503Afs*28 (c.1507_1508del) in the ARX gene. iPSC, PBMCs
2021 Non-functional pancreatic neuroendocrine tumours: ATRX/DAXX and alternative lengthening of telomeres (ALT) are prognostically independent from ARX/PDX1 expression and tumour size. ALT, ATRX, NETs, NF-PanNETs, PDX-1, RFS
2021 Screening of the duplication 24 pb of ARX gene in Moroccan patients with X-linked Intellectual Disability. ID, NS-ID
10  2021 The expression of aristaless-related homeobox in neural progenitors of gyrencephalic carnivore ferrets. IP, oRG
11  2020 Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance. ASD, ID
12  2020 Dynamic causal modeling of hippocampal activity measured via mesoscopic voltage-sensitive dye imaging. DCM, VSDI
13  2020 FCoR-Foxo1 Axis Regulates alpha-Cell Mass through Repression of Arx Expression. DNMT3A, FcorKO
14  2020 Generation of a homozygous ARX nuclear CFP (ARXnCFP/nCFP) reporter human iPSC line (HMGUi001-A-4). ---
15  2020 Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance. ACC, CES, CNS
16  2020 Identification and validation of the phosphorylation sites on Aristaless-related homeobox protein. ---
17  2020 Novel ARX mutation identified in infantile spasm syndrome patient. ACTH
18  2019 Arx Expression Suppresses Ventralization of the Developing Dorsal Forebrain. ---
19  2019 Changes in Calcium Homeostasis and Gene Expression Implicated in Epilepsy in Hippocampi of Mice Overexpressing ORAI1. AM, DCLK1, ddPCR, Hes-5, RNA-Seq, Stk9
20  2019 Present status and expectation of aristaless-related homeobox (ARX) in endocrine pancreas. ---
21  2019 Splice variant in ARX leading to loss of C-terminal region in a boy with intellectual disability and infantile onset developmental and epileptic encephalopathy. ---
22  2018 A new mouse model of ARX dup24 recapitulates the patients' behavioral and fine motor alterations. ---
23  2018 Basal ganglia involvement in ARX patients: The reason for ARX patients very specific grasping? ID, LKA
24  2018 Identification of epigenetically altered genes and potential gene targets in melanoma using bioinformatic methods. DDB2, DEGs, DMGs, DMPs, GO, MBP
25  2018 Lipid malabsorption from altered hormonal signaling changes early gut microbial responses. GLP
26  2018 Mutations of ARX and non-syndromic intellectual disability in Chinese population. NSID
27  2018 Regulating transcriptional activity by phosphorylation: A new mechanism for the ARX homeodomain transcription factor. ARX-WT, PRKCA
28  2018 SIRT1 activation attenuates alpha cell hyperplasia, hyperglucagonaemia and hyperglycaemia in STZ-diabetic mice. SIRT1, STZ
29  2017 An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX. ACC, ID, XLAG
30  2017 Aristaless Related Homeobox (ARX) Interacts with beta-Catenin, BCL9, and P300 to Regulate Canonical Wnt Signaling. BCL9, LRRFIP2
31  2017 ARX polyalanine expansion mutations lead to migration impediment in the rostral cortex coupled with a developmental deficit of calbindin-positive cortical GABAergic interneurons. ---
32  2017 Converting Adult Pancreatic Islet alpha Cells into beta Cells by Targeting Both Dnmt1 and Arx. DNMT1, T1D
33  2017 Extensive phenotyping of two ARX polyalanine expansion mutation mouse models that span clinical spectrum of intellectual disability and epilepsy. ID
34  2017 The species origin of the cellular microenvironment influences markers of beta cell fate and function in EndoC-betaH1 cells. GCG, GSIS
35  2016 A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3. COE, EBF3
36  2016 Developmental interneuron subtype deficits after targeted loss of Arx. ---
37  2016 Embryonic forebrain transcriptome of mice with polyalanine expansion mutations in the ARX homeobox gene. ID, WT
38  2015 Pathogenesis and new candidate treatments for infantile spasms and early life epileptic encephalopathies: A view from preclinical studies. EIEEs
39  2015 Reinitiation of mRNA translation in a patient with X-linked infantile spasms with a protein-truncating variant in ARX. XLAG
40  2015 The Role of ARX in Human Pancreatic Endocrine Specification. hESCs, rarely detected, XLAG
41  2015 Unraveling the pathogenesis of ARX polyalanine tract variants using a clinical and molecular interfacing approach. ---
42  2014 A child with a novel de novo mutation in the aristaless domain of the aristaless-related homeobox (ARX) gene presenting with ambiguous genitalia and psychomotor delay. ---
43  2014 Arx is required for specification of the zona incerta and reticular nucleus of the thalamus. ZI
44  2014 Conditional Loss of Arx From the Developing Dorsal Telencephalon Results in Behavioral Phenotypes Resembling Mild Human ARX Mutations. ---
45  2014 Dysgenesis of enteroendocrine cells in Aristaless-Related Homeobox polyalanine expansion mutations. ---
46  2013 Aristaless-related homeobox plays a key role in hyperplasia of the pancreas islet alpha-like cells in mice deficient in proglucagon-derived peptides. ---
47  2013 ARX regulates cortical intermediate progenitor cell expansion and upper layer neuron formation through repression of Cdkn1c. IPCs, VZ
48  2013 Nuclear import of aristaless-related homeobox protein via its NLS1 regulates its transcriptional function. ---
49  2013 Pancreatic alpha-cell specific deletion of mouse Arx leads to alpha-cell identity loss. ---
50  2013 Reduced polyalanine-expanded Arx mutant protein in developing mouse subpallium alters Lmo1 transcriptional regulation. ID
51  2012 A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARX. ID, polyA, XLID
52  2012 An epilepsy-related ARX polyalanine expansion modifies glutamatergic neurons excitability and morphology without affecting GABAergic neurons development. WT
53  2012 Distinct DNA binding and transcriptional repression characteristics related to different ARX mutations. ---
54  2012 Genetic testing of epileptic encephalopathies of infancy: an approach. CDKL5, PCDH19, SCN1A, STXBP1
55  2012 Interneuron, interrupted: molecular pathogenesis of ARX mutations and X-linked infantile spasms. ---
56  2012 Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation? ---
57  2012 Mutational screening of ARX gene in Iranian families with X-linked intellectual disability. NS-XLID, PRTS, SSCP, XLAG
58  2011 ARX homeodomain mutations abolish DNA binding and lead to a loss of transcriptional repression. ID, XMESID
59  2011 Contractions in the second polyA tract of ARX are rare, non-pathogenic polymorphisms. ---
60  2011 Genes of early-onset epileptic encephalopathies: from genotype to phenotype. CDKL5, MAGI-2, PCDH19, PLCbeta1, PNKP, PNPO, SCN1A, SLC25A22, SPTAN1, STXBP1
61  2011 High-throughput analysis of promoter occupancy reveals new targets for Arx, a gene mutated in mental retardation and interneuronopathies. ---
62  2011 Immunohistochemical characterisation of cells co-producing insulin and glucagon in the developing human pancreas. MafA, NKX6.1, PDX-1
63  2011 Metabolic impact of glucagon deficiency. Gcg, GCGR, GLP-1
64  2011 Pancreatic beta cell identity is maintained by DNA methylation-mediated repression of Arx. ---
65  2011 Screening and cell-based assessment of mutations in the Aristaless-related homeobox (ARX) gene. DHPLC, ID, PA, SSCP
66  2011 Transcriptional regulation of alpha-cell differentiation. Brn4, Foxa1, FOXA2, Isl1, Ngn3, PAX6, Pdx1, PP, Rfx6
67  2010 ARX spectrum disorders: making inroads into the molecular pathology. ID, mice
68  2010 Mutations in the nuclear localization sequence of the Aristaless related homeobox; sequestration of mutant ARX with IPO13 disrupts normal subcellular distribution of the transcription factor and retards cell division. IPO13, NLS, XLAG
69  2010 Partial loss of pancreas endocrine and exocrine cells of human ARX-null mutation: consideration of pancreas differentiation. XLAG
70  2009 A novel de novo 27 bp duplication of the ARX gene, resulting from postzygotic mosaicism and leading to three severely affected males in two generations. DUP
71  2009 A triplet repeat expansion genetic mouse model of infantile spasms syndrome, Arx(GCG)10+7, with interneuronopathy, spasms in infancy, persistent seizures, and adult cognitive and behavioral impairment. ISS
72  2009 Clinical study of two brothers with a novel 33 bp duplication in the ARX gene. ---
73  2009 Infantile spasms: a critical review of emerging animal models. ---
74  2009 Mice deficient for glucagon gene-derived peptides display normoglycemia and hyperplasia of islet {alpha}-cells but not of intestinal L-cells. Gcg, GLP-1
75  2009 Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X). WS, XLAG
76  2009 Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females. ---
77  2009 Two new familial severe infantile spasm syndromes in males. ISSs
78  2008 Aristaless-related homeobox gene disruption leads to abnormal distribution of GABAergic interneurons in human neocortex: evidence based on a case of X-linked lissencephaly with abnormal genitalia (XLAG). CR, GAD, XLAG
79  2008 Cell-autonomous roles of ARX in cell proliferation and neuronal migration during corticogenesis. ---
80  2008 Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms. ---
81  2008 Identification of Arx transcriptional targets in the developing basal forebrain. GRN
82  2008 The function of the Aristaless-related homeobox (Arx) gene product as a transcriptional repressor is diminished by mutations associated with X-linked mental retardation (XLMR). CtBP, XLMR
83  2007 A novel mutation of the ARX gene in a male with nonsyndromic mental retardation. ---
84  2007 Aristaless-related homeobox gene, the gene responsible for West syndrome and related disorders, is a Groucho/transducin-like enhancer of split dependent transcriptional repressor. TLE, TLE
85  2007 Embryonic endocrine pancreas and mature beta cells acquire alpha and PP cell phenotypes upon Arx misexpression. PP
86  2007 Lissencephaly, abnormal genitalia and refractory epilepsy: case report of XLAG syndrome. XLAG
87  2007 Molecular pathology of expanded polyalanine tract mutations in the Aristaless-related homeobox gene. IPO13
88  2007 MRX87 family with Aristaless X dup24bp mutation and implication for polyAlanine expansions. XLMR
89  2007 Mutation screening of the Aristaless-related homeobox (ARX) gene in Thai pediatric patients with delayed development: first report from Thailand. XLMR
90  2007 Understanding the extrinsic and intrinsic signals involved in pancreas and beta-cell development: from endoderm to beta cells. IA1, MAFB
91  2006 ARX mutation c.428-451dup (24bp) in a Brazilian family with X-linked mental retardation. Prd
92  2006 Mutation screening of the ARX gene in patients with autism. ---
93  2005 Recombineered Xenopus tropicalis BAC expresses a GFP reporter under the control of Arx transcriptional regulatory elements in transgenic Xenopus laevis embryos. BAC, GFP
94  2005 XLMR in MRX families 29, 32, 33 and 38 results from the dup24 mutation in the ARX (Aristaless related homeobox) gene. XLMR
95  2004 A polyalanine tract expansion in Arx forms intranuclear inclusions and results in increased cell death. polyA
96  2004 Agenesis of the corpus callosum, abnormal genitalia and intractable epilepsy due to a novel familial mutation in the Aristaless-related homeobox gene. ACC, XLAG
97  2004 Genetics of the epilepsies. LGI1, STK9
98  2004 Neuroanatomical distribution of ARX in brain and its localisation in GABAergic neurons. ---
99  2004 X-linked lissencephaly with abnormal genitalia associated with renal phosphate wasting. XLAG
100  2004 Xenopus aristaless-related homeobox (xARX) gene product functions as both a transcriptional activator and repressor in forebrain development. xARX