| High PGAP3 expression is associated with lymph node metastasis and low CD8[+]T cell in patients with HER2[+] breast cancer. | High PGAP3 expression is associated with lymph node metastasis and low CD8(+)T cell in patients with HER2(+) breast cancer.
Hao N, Li M, Wang J, Song Y, Zhao Y, Zhang L, Yang X, Chen L, Ma J, Jia Q, Sui F. | 11/18/2023 |
| Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases. | Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.
Altassan R, Allers MM, De Graef D, Shah R, de Vries M, Larson A, Glamuzina E, Morava E., Free PMC Article | 11/16/2023 |
| Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene. | Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene.
Heft Neal ME, Birkeland AC, Bhangale AD, Zhai J, Kulkarni A, Foltin SK, Jewell BM, Ludwig ML, Pinatti L, Jiang H, McHugh JB, Marentette L, McKean EL, Brenner JC., Free PMC Article | 10/16/2021 |
| The novel circular RNA circ-PGAP3 retards cervical cancer growth by regulating the miR-769-5p/p53 axis. | The novel circular RNA circ-PGAP3 retards cervical cancer growth by regulating the miR-769-5p/p53 axis.
Jun T, Chen W, Hailing C, Ning W, Qinxue C. | 10/9/2021 |
| Hyperphosphatasia with mental retardation syndrome type 4 in three unrelated South African patients. | Hyperphosphatasia with mental retardation syndrome type 4 in three unrelated South African patients.
Bezuidenhout H, Bayley S, Smit L, Kinnear C, Möller M, Uren C, Urban MF. | 06/5/2021 |
| The Asthma-associated PER1-like domain-containing protein 1 (PERLD1) Haplotype Influences Soluble Glycosylphosphatidylinositol Anchor Protein (sGPI-AP) Levels in Serum and Immune Cell Proliferation. | The Asthma-associated PER1-like domain-containing protein 1 (PERLD1) Haplotype Influences Soluble Glycosylphosphatidylinositol Anchor Protein (sGPI-AP) Levels in Serum and Immune Cell Proliferation.
Sio YY, Anantharaman R, Lee SQE, Matta SA, Ng YT, Chew FT., Free PMC Article | 11/28/2020 |
| Data show that biallelic loss of function mutations in the post-GPI attachment to proteins 3 (PGAP3) gene were detected in all patients. | PGAP3-related hyperphosphatasia with mental retardation syndrome: Report of 10 new patients and a homozygous founder mutation.
Abdel-Hamid MS, Issa MY, Otaify GA, Abdel-Ghafar SF, Elbendary HM, Zaki MS. | 08/11/2018 |
| A screening approach with sequence specific baits for transcripts of genes of the GPI pathway identified pathogenic noncoding mutations in PGAP3 subtype of hyperphosphatasia with mental retardation syndrome. Besides five missense mutations, an intronic mutation was found causing an aberrant splice product and a mutation in the 3'UTR that is associated with substantially lower mRNA levels. | Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.
Knaus A, Awaya T, Helbig I, Afawi Z, Pendziwiat M, Abu-Rachma J, Thompson MD, Cole DE, Skinner S, Annese F, Canham N, Schweiger MR, Robinson PN, Mundlos S, Kinoshita T, Munnich A, Murakami Y, Horn D, Krawitz PM., Free PMC Article | 12/16/2017 |
| Impairment of PGAP3 causes a subtype of hyperphosphatasia with intellectual disabilities, a congenital disorder of glycosylation that is also referred to as Mabry syndrome. | Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.
Howard MF, Murakami Y, Pagnamenta AT, Daumer-Haas C, Fischer B, Hecht J, Keays DA, Knight SJ, Kölsch U, Krüger U, Leiz S, Maeda Y, Mitchell D, Mundlos S, Phillips JA 3rd, Robinson PN, Kini U, Taylor JC, Horn D, Kinoshita T, Krawitz PM., Free PMC Article | 04/5/2014 |
| Data show that glycosylphosphatidylinositol-anchored proteins (GPI-APs) are secreted into the medium by cells overexpressing PGAP3. | Apical sorting of lysoGPI-anchored proteins occurs independent of association with detergent-resistant membranes but dependent on their N-glycosylation.
Castillon GA, Michon L, Watanabe R., Free PMC Article | 01/18/2014 |
| These findings revealed the association of PERLD1 as a novel asthma candidate gene and reinforced the involvement of genes on the 17q12-21 chromosomal region in the etiology of asthma. | Genome-wide association study identifies PERLD1 as asthma candidate gene.
Anantharaman R, Andiappan AK, Nilkanth PP, Suri BK, Wang de Y, Chew FT., Free PMC Article | 03/24/2012 |
| Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator) | Variation at the NFATC2 locus increases the risk of thiazolidinedione-induced edema in the Diabetes REduction Assessment with ramipril and rosiglitazone Medication (DREAM) study.
Bailey SD, Xie C, Do R, Montpetit A, Diaz R, Mohan V, Keavney B, Yusuf S, Gerstein HC, Engert JC, Anand S, DREAM investigators., Free PMC Article | 09/15/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | See all PubMed (3) articlesGene-centric association signals for lipids and apolipoproteins identified via the HumanCVD BeadChip.
Talmud PJ, Drenos F, Shah S, Shah T, Palmen J, Verzilli C, Gaunt TR, Pallas J, Lovering R, Li K, Casas JP, Sofat R, Kumari M, Rodriguez S, Johnson T, Newhouse SJ, Dominiczak A, Samani NJ, Caulfield M, Sever P, Stanton A, Shields DC, Padmanabhan S, Melander O, Hastie C, Delles C, Ebrahim S, Marmot MG, Smith GD, Lawlor DA, Munroe PB, Day IN, Kivimaki M, Whittaker J, Humphries SE, Hingorani AD, ASCOT investigators, NORDIL investigators, BRIGHT Consortium. Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.
Mavaddat N, Dunning AM, Ponder BA, Easton DF, Pharoah PD. HapMap-based study of the 17q21 ERBB2 amplicon in susceptibility to breast cancer.
Benusiglio PR, Pharoah PD, Smith PL, Lesueur F, Conroy D, Luben RN, Dew G, Jordan C, Dunning A, Easton DF, Ponder BA. | 03/13/2008 |
| MGC9753, consisting of eight exons, clustered with PPP1R1B, STARD3, TCAP, PNMT, ERBB2, MGC14832 and GRB7 genes within the 120-kb region of chromosome 17q12; PPP1R1B, STARD3, MGC9753, ERBB2 and GRB7 genes are co-amplified in several cases of gastric cancer | MGC9753 gene, located within PPP1R1B-STARD3-ERBB2-GRB7 amplicon on human chromosome 17q12, encodes the seven-transmembrane receptor with extracellular six-cystein domain.
Katoh M, Katoh M. | 01/21/2010 |
| Oncogenomic recombination hotspot around the PPP1R1B-STARD3-TCAP-PNMT-PERLD1-ERBB2-C17orf37-GRB7 amplicon at human chromosome 17q12 is closely linked to evolutionary recombination hotspot around the GSDML-GSDM locus. | Evolutionary recombination hotspot around GSDML-GSDM locus is closely linked to the oncogenomic recombination hotspot around the PPP1R1B-ERBB2-GRB7 amplicon.
Katoh M, Katoh M. | 03/16/2004 |