Results 11 to 20 of about 212 (100)

Reporting a Novel Disease Causing Variant in PGAP3 Associated With Hyperphosphatasia and Intellectual Disability: A Case Report and Comprehensive Literature Review

Molecular Genetics & Genomic Medicine
Background A rare autosomal recessive disorder known as hyperphosphatasia with impaired intellectual development syndrome (HPMRS), also referred to as Mabry syndrome, is caused by a deficiency in glycosylphosphatidylinositol (GPI).
Arash Salmaninejad, Mohammad Reza Seyedtaghia, Ali Hosseini Bereshneh, Nasrin Azizi, Reza Bayat, Somaye Esnaashari, Vahid Aminzadeh, Shahin Koohmanaee, Shahram Savad, Majid Mojarrad, Setila Dalili   +10 more
doaj   +5 more sources

Characterization of Arabidopsis Post-Glycosylphosphatidylinositol Attachment to Proteins Phospholipase 3 Like Genes [PDF]

Frontiers in Plant Science, 2022
Lipid remodeling of Glycosylphosphatidylinositol (GPI) anchors is required for their maturation and may influence the localization and function of GPI-anchored proteins (GPI-APs).
Cesar Bernat-Silvestre, Yingxuan Ma, Yingxuan Ma, Kim Johnson, Kim Johnson, Alejandro Ferrando, Fernando Aniento, María Jesús Marcote   +7 more
doaj   +5 more sources

Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome [PDF]

Human Mutation, 2016
HPMRS or Mabry syndrome is a heterogeneous glycosylphosphatidylinositol (GPI) anchor deficiency that is caused by an impairment of synthesis or maturation of the GPI-anchor. The expressivity of the clinical features in HPMRS varies from severe syndromic forms with multiple organ malformations to mild nonsyndromic intellectual disability.
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   +18 more
openaire   +5 more sources

A Novel PGAP3 Gene Mutation-Related Megalocornea Can Be Misdiagnosed as Primary Congenital Glaucoma

Cureus, 2022
Hyperphosphatasia with mental retardation syndrome 4 (HPMRS4) is a rare autosomal recessive disorder caused by glycosylphosphatidylinositol (GPI) deficiency. GPI deficiency results from a mutation in one of six known genes. Mutation in post-GPI attachment to protein phospholipase 3 gene (PGAP3) is linked to HPMRS4.
Alhaidari, Abdulmajeed I, Albakri, Amani S, Alhumaidi, Suzan S   +2 more
exaly   +3 more sources

Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia

Case Reports in Genetics
Hyperphosphatasia with mental disorder (HPMRS) is a rare autosomal recessive disease caused by gene mutations in enzymes involved in the synthesis and remodeling of lipids.
Osama Obaid, Reem Batawi, Heba Alqurashi, Thana Ewis, Ahmad A. Obaid   +4 more
doaj   +3 more sources

Supplementary Videos: PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early Development

, 2020
Supplementary Videos: PGAP3 Associated with Hyperphosphatasia with Mental Retardation Plays a Novel Role in Brain Morphogenesis and Neuronal Wiring at Early ...
Da'as, Sahar I., Aamer, Waleed, Hasan, Waseem, Aljazi Al-Maraghi, Al-Kurbi, Alya, Kilani, Houda, AlRayahi, Jehan, Zamel, Khaled, Stotland, Mitchell A., Fakhro, Khalid A.   +9 more
openaire   +3 more sources

Multi-omics integration identifies PGAP3 as a tumor-intrinsic factor associated with CD8+ T-cell exclusion in prostate cancer

Frontiers in Molecular Biosciences
BackgroundProstate cancer (PCa) is prototypically immunologically “cold”, characterized by low tumor mutational burden, sparse CD8+ T-cell infiltration, and resistance to immune checkpoint blockade.
Weihao Liu, Guoping Li, Yan Lei, Yan Lei, Yan Lei, Huixiu Liu, Huixiu Liu, Binhui Wang, Binhui Wang, Binhui Wang, Weiming Deng, Yude Hong, Yude Hong, Yude Hong, Xiangyang Long, Xiangyang Long, Xiangyang Long   +16 more
doaj   +3 more sources

Association of 17q12-q21 Asthma Risk Locus with Clinical Severity of Infant Respiratory Syncytial Virus Infection

Biomolecules
This study examined whether SNPs at the 17q12-q21 locus that are associated with childhood asthma are also associated with severe respiratory syncytial virus (RSV) infection and viral load.
Kedir N. Turi, Christopher McKennan, Christian Rosas-Salazar, Tebeb Gebretsedik, Dawn C. Newcomb, Emma E. Thompson, James Gern, James Chappell, Larry Anderson, Carole Ober, Tina Hartert   +10 more
doaj   +2 more sources

Mendelian randomization analysis identified potential genes pleiotropically associated with gout [PDF]

Frontiers in Genetics
BackgroundThis study aims to prioritize genes potentially involved in multifactorial or causal relationships with gout.MethodsUsing the Summary Data-based Mendelian Randomization (SMR) approach, this research analyzed expression quantitative trait loci ...
Yu Wang, Jiahao Chen, Hang Yao, Yuxin Li, Xiaogang Xu, Delin Zhang   +5 more
doaj   +2 more sources

Mutations in the PIGW gene associated with hyperphosphatasia and mental retardation syndrome: a case report

BMC Pediatrics, 2019
Background Mutations in the PIGV, PIGO, PIGL, PIGY, PGAP2, PGAP3, and PIGW genes have recently been reported to cause hyperphosphatasia accompanied by mental retardation syndrome (HPMRS); the latter is an autosomal-recessive neurological disorder ...
Li’na Fu, Yan Liu, Yu Chen, Yi Yuan, Wei Wei   +4 more
doaj   +2 more sources