AR
HGNC:644 · 58 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | AR | “Genetic studies of ASD have identified de novo copy number variants (CNVs) and point mutations that contribute significantly to the genetic architecture, but the majority of these studies were conducted in populations unsuited for detecting autosomal recessive (AR) inheritance.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “AZO intoxication at all the tested doses upregulated the gene expression of TGF-β1, SMAD2, CYP19A1, FKBP5, SMAD3, COL1A1 and TGFBR1 while suppressing the expression of 3β-HSD, AR, SRD5A1, StAR, 17β-HSD, and KLK3.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “This study evaluates the incorporation of three cement kiln dust (CKD) variants, alkaline-rich (AR), calcium-rich (CR), and iron-rich (IR), as 40% partial replacements for OPC in LFC with a target density of 1000 kg/m³.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “The likelihood of autosomal recessive (AR) genetic abnormalities, especially rare diseases (RDs) that present long-term health issues, is significantly increased by this trend, making Inherited Ocular Diseases (IODs) a public health concern in Saudi Arabia.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “Antibiotic resistance (AR) has long been interpreted through the lens of genetic mutations and horizontal gene transfer.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “Variants in the androgen receptor (AR) gene cause androgen insensitivity syndrome (AIS), ranging from complete (CAIS) to partial (PAIS) and mild (MAIS) forms.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “BACKGROUND: The mutations in the Androgen Receptor (AR) known as H874Y in prostate cancer greatly influence cellular signaling and execute the cell proliferation.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “RESULTS: Of the 21 assessed ER-regulated genes, four genes (PR, GREB1, AR and BEX1) maintained their prognostic significance in ER+ BC at both the transcriptomic and proteomic levels.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “The androgen receptor (AR) is a nuclear receptor involved in regulating gene expression, maintaining the sexual phenotype, and contributing to the development of prostate cancer (PCa).” | 0.98 | hgnc_dict_v1 |
| gene | AR | “However, the expression of the androgen receptor (AR) in the luminal androgen receptor (LAR TNBC) subgroup has opened the door to alternative therapeutic approaches.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “Whereas, androgen receptor (AR), epidermal growth factor receptor (EGFR), and estrogen-sensitive receptor alpha (ESR1) were the most enriched target genes.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “Genetic alterations revealed mitochondrial complex 1 deficiency, nuclear type 4 |AR: two compound heterozygous missense mutations in the NDUFV1 gene, c.640G < A (p.E214K) chr11:67377981 (Exon 1) and c.248C < T (p.S83L) chr11:67376115 (Exon 3) gene.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “The molecular landscape of TNBC is covered in the first section, which keeps the focus on transcriptome and genomic profiling while highlighting key molecular targets like mutations in the BRCA1/2, PIK3CA, androgen receptors (AR), epidermal growth factor receptors (EGFR), and immunological checkpoint molecules.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “This study explores a novel therapeutic approach for spinal bulbar muscular atrophy (SBMA), a neurodegenerative disorder caused by a mutation in the Androgen Receptor (AR) gene.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “This study introduces a novel proof-of-concept assay designed for autosomal recessive (AR) cffDNA screening, focusing on cases involving the NPC1 gene.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “Genetic variants of VDR have been explored as potential factors in autoimmune and allergic diseases, with limited studies on their association with allergic rhinitis (AR).” | 0.98 | hgnc_dict_v1 |
| gene | AR | “RESULTS: The findings revealed that Cucurbita pepo contains 18 active components and has 192 potential gene targets, including AR, EGFR, ESR1, AKT1, MAPK3, SRC, and MTOR.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “Leydig cells showed a high active regulator mechanism of the steroidogenic pathway with increased the proteins and genes expression level of steroidogenic acute regulatory protein (STAR), cytochrome P450 cholesterol (CYP11A1), cytochrome P450 cholesterol (CYP17A1), 3β-hydroxysteroid hydrogenase (3β-HSD) 17β-hydroxysteroid hydrogenase (17β-HSD), and androgen receptor (AR) that maintained the healthy and vigorous progressive motile spermatozoa.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “These results from a study on S. androgynus used molecular docking and network pharmacology to gain insight into the prime target genes and potential mechanisms identified for AKT1, mTOR, AR, PPID, FKBP5, and NR3C1.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “We report 23 patients with loss-of-function variants causing autosomal recessive (AR) complete STAT2 deficiency.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “Castration resistance is due, in part, to intratumoral and/or adrenal synthesis of androgens, overexpression or mutation of the androgen receptor (AR), stabilization of AR by chaperones, and ligand-independent activation of AR.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “Genetic alterations and the overexpression of several genes, such as FOXA1, AR, PTEN, RB1, TP53, etc., suppress the immune response, resulting in drug resistance to conventional drugs in prostate cancer.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “There was marked enrichment under various Kyoto Encyclopaedia of Genes and Genomes (KEGG) and Gene Ontology (GO) terms for these DEGs (DUSP10, FN1, AR, PRKCE, CA12, RBP4, GABRG2, and GABRA2).” | 0.98 | hgnc_dict_v1 |
| gene | AR | “Results for the three datasets included 44 unique genes and 10 unique transcription factors (SP1, HDAC1, EGR1, E2F1, AR, STAT6, RELA, SP3, NFKB1, and ESR1) which are reportedly related to pancreatic islet functions, diseases, and therapeutic targets.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “In the normocytic group, the diagnosis revealed autosomal recessive (AR) HS, vitamin B12 deficiency, pyruvate kinase deficiency (PKD), congenital dyserythropoietic anemia (CDA) type I, Diamond Blackfan anemia and beta thalassemia major.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “Among molecular data from 333 patient partners (572 samples), exome sequencing of 63 tumor and 19 cell-free DNA (cfDNA) samples recapitulated known findings in MPC, while inexpensive ultra-low-coverage sequencing of 318 cfDNA samples revealed clinically relevant AR amplifications.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “The key genes, including EGFR, MYC, VEGFA, and PTEN, are targeted by TF such as AR, Sp1, TP53, NF-KB1, STAT3, RELA.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “Functional depletion of METTL3 resulted in upregulation of the androgen receptor (AR), together with 134 AR-regulated genes.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “Autosomal recessive (AR) STAT1 deficiency is a severe inborn error of immunity disrupting cellular responses to type I, II, and III IFNs, and IL-27, and conferring a predisposition to both viral and mycobacterial infections.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “The residual risk for additional autosomal recessive (AR) variants, however, remains largely understudied.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “However, AR mutation (F876L) converts Enzalutamide from antagonist to agonist indicating a rapid evolution of resistance.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “After accounting for multiple tests, seven genes (AR, CARS2, FTSJ1, HFE, LTB4R, TELO2, NECTIN1) were significantly associated with shape variation of the cheek, chin, nose and mouth areas.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “Other mutations affected CYP17A1 with 2 novel and 2 known mutations in 7 patients; HSD3B2 with 2 known mutations in 11 patients of 4 families; StAR with 1 novel and 1 known mutations in 4 patients; NR0B1 with 1 novel mutation in 2 siblings; HSD17B3 with 1 known mutation in 3 siblings; LHCGR with 1 novel mutation in 2 siblings; and AR with 1 novel and 3 known mutations in 4 unrelated patients.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “PPI network obtained from STRING were subjected to Cytoscape plugin cytoHubba, and top 10 genes (AURKA, JUN, AR, MELK, NCOA2, CENPF, NCAPG, PCK1, RAD51AP1, and GTSE1) were chosen as the target hub genes based on the highest degree of connectivity.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “This study adopted a molecular-based approach for age determination of the immature stages of the blowfly, C. albiceps, by evaluating the genes 15_2, 2014192, EcdR, AR, hsp90, and Actin, during larval development at different temperatures.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “Founder mutations and autosomal recessive (AR) disorders are common in the Arabian Peninsula due to frequent consanguineous marriages.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “Autosomal-recessive (AR) nonsyndromic hearing impairment (NSHI) displays a high degree of genetic heterogeneity with >100 genes identified.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “As TBL1, AR, LDOC1, and RPL10 genes are located at regions Xp22.31, Xq11.2-12, Xq26.2, and Xq28, respectively, these genes could play an essential role in PrCa or BPH.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “CAG trinucleotide repeats are coded for the polyglutamine tract in the N-terminal of the androgen receptor (AR) gene which varies in normal individuals from 6 to 36 residues.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “Pathophysiological functions of genes are primarily responsible for the synthesis of proteins that have role in PCOS before hyperandrogenism including GnRHR, FSHβ, FSHR, LHCGR, CYP19A1, HSD17B, AR and SHBG, and their effects in PCOS of human have been confirmed.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “Network analysis showed that these genes are upstream of important functions including prostate gland development, tumor recurrence, prostate cancer-specific survival, tumor progression, cancer mortality, long-term survival, cancer recurrence, angiogenesis, and AR.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “The objective of this study was the identification of likely genes and mutations associated with an autosomal recessive (AR) rare spinocerebellar ataxia (SCA) phenotype in two patients with infantile onset, from a consanguineous family.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “METHODS: In 100 cases undergoing WES, we applied a custom filtration process to look primarily for homozygous variants in autosomal recessive (AR) disorders, and second for variants in either autosomal dominant or x-linked disorders.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “Mutations in AR gene are known to cause defects in male sexual differentiation.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “BACKGROUND: Hyper-IgE syndrome (HIES) due to DOCK8 deficiency is an autosomal recessive (AR) primary combined immunodeficiency which results in significant morbidity and mortality at a young age.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “In order to discover the missing heritability due to rare variants, we have exome sequenced a consanguineous Saudi family presenting CD in an autosomal recessive (AR) pattern.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “Occasionally, bi-allelic mutations in KCNQ1 are also found in patients without any deafness, referred to as autosomal recessive long QT syndrome, type 1 (AR LQT1).” | 0.98 | hgnc_dict_v1 |
| gene | AR | “Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “And then measure related behavior indicators and the change of biochemical index level in serum and brains; measure the estrogen/androgen receptor (ER/AR) in related tissues and the ERmRNA expression in hypothalamus.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “The first genetic etiology of isolated CMC-autosomal recessive (AR) IL-17 receptor A (IL-17RA) deficiency-was reported in 2011, in a single patient.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “Reports of primary isolated dystonia inherited in an autosomal-recessive (AR) manner, often lumped together as "DYT2 dystonia," have appeared in the scientific literature for several decades, but no genetic cause has been identified to date.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “We report a child with autosomal recessive (AR)-HIES secondary to dedicator of cytokinesis 8 (DOCK8) deficiency who developed critical aortic aneurysm involving the ascending aorta and aortic arch with narrowing of descending aorta that was successfully managed surgically.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “Studies have shown that genetic variation (polymorphism) in the trinucleotide cytosine-adenine- guanine (CAG) sequence in exon 1 of the androgen receptor (AR) gene is related to altered activity of the AR as a transcription factor.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “The α(2B)-adrenergic receptor gene (α(2B)AR) is a three-amino acid deletion (12Glu9) polymorphism is located on chromosome 2. (Glu(9)/Glu(9)) of this polymorphism has been first time studies in G6PD individuals.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “The Androgen Receptor (AR) gene is located on the q arm of X chromosome (q11-12) and considered as a ligand-inducible transcription factor that regulates target gene expression.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “An expanding list of genes that encode proteins related to collagen metabolism are now recognised as important causes of autosomal recessive (AR) OI.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “INTERPRETATION: Xq12-q13.3 duplication is a novel global developmental delay and autism-predisposing chromosomal aberration; pathogenesis of which may be mediated by increased dosage of genes contained in the duplication, including NLGN3, OPHN1, AR, EFNB1, TAF1, GJB1, and MED12.” | 0.98 | hgnc_dict_v1 |
| gene | AR | “We analysed the polymorphic CAG and GGN repeats sequence in exon 1 of the AR gene to determine if the number of repeats might be an indicator of PRCa risk in patients with BPH.” | 0.98 | hgnc_dict_v1 |