Results 1 to 10 of about 1,085 (147)

A case of inherited glycosylphosphatidylinositol deficiency caused by PGAP3 variant with uniparental isodisomy on chromosome 17 [PDF]

Molecular Genetics & Genomic Medicine
Background Inherited glycosylphosphatidylinositol (GPI) deficiency is an autosomal recessive disease and a set of syndromes caused by different genes involved in the biosynthesis of phosphatidylinositol characterized by severe cognitive disability ...
Takeo Mukai, Hiroki Kitaoka
exaly   +6 more sources

Bilateral Glaucoma as Possible Additional Feature for PGAP3-Associated Hyperphosphatasia [PDF]

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, Dr. Heba Alqurashi   +2 more
exaly   +6 more sources

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

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   +4 more sources

PGAP3 is expressed at increased levels in asthmatic ASM and is associated with increased ASM proliferation, contractility and expression of GATA3 and ALOX5 [PDF]

PLoS ONE
Post-GPI Attachment to Proteins phospholipase 3 (PGAP3) is a glycosylphosphatidylinositol (GPI) anchor-remodeling gene found on chromosome 17q12-21, which is a locus highly linked to asthma. Genetic association studies have linked PGAP3 SNPs to increased
Eric Leslie, Gil-Soon Choi, Taylor A Doherty   +2 more
exaly   +5 more sources

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

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   +4 more sources

Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene [PDF]

BMC Cancer, 2021
Background Sinonasal Undifferentiated Carcinoma (SNUC) is a rare and aggressive skull base tumor with poor survival and limited treatment options. To date, targeted sequencing studies have identified IDH2 and SMARCB1 as potential driver alterations, but ...
Lisa M Pinatti Bs, Hui Jiang, Chad J Brenner   +2 more
exaly   +8 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   +5 more sources

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

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

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   +2 more sources

Genomic insights into Rett syndrome-like features in Bangladeshi participants [PDF]

Genetics in Medicine Open
Purpose: Rett syndrome (RTT) is a neurological disorder marked by the loss of developmental milestones. Classic RTT involves variants in the methyl-CpG-binding protein 2 (MECP2) gene.
Hosneara Akter, Muhammad Mizanur Rahman, Rabeya Akter Mim, Atikur Rahaman, Md., Tamannyat Binte Eshaque, Syed Akib Hossain, Athoi Ganguly, Farjana Binta Omar, Masuma Afrin Taniya, Nahid Hasan, Md., Amirul Islam, Bassam Jamalalail, Nasna Nassir, Binte Zehra, Shaoli Sarker, K.M. Furkan Uddin, A.H.M. Nurun Nabi, Marc Woodbury-Smith, Mohammed Uddin   +18 more
doaj   +2 more sources