Results 41 to 50 of about 212 (100)

Data_Sheet_1_Characterization of Arabidopsis Post-Glycosylphosphatidylinositol Attachment to Proteins Phospholipase 3 Like Genes.PDF

, 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 (12075854), Yingxuan Ma (3570407), María Jesús Marcote (8712156), Alejandro Ferrando (128779), Fernando Aniento (1307343), Kim Johnson (1780429)   +5 more
core   +1 more source

Dr.

, 2020
PGAP3 associated with hyperphosphatasia with mental retardation plays a novel role in brain morphogenesis and neuronal wiring at early development”, by Sahar I.
Sahar
core   +1 more source

A Treatable Cause of Seizures and Hyperphosphatasia: Patients with PGAP2 and PGAP3 Mutations

Molecular Syndromology
<p>Introduction: Hyperphosphatasia with mental retardation syndrome (HPMRS) is characterized by intellectual impairment, seizures, hypotonia, facial dysmorphism, and elevated serum alkaline phosphatase (ALP) level. HPMRS has been linked to mutations in several genes including PGAP2 and PGAP3.
Ezgi Burgac, Merve Yoldas Celik, Burcu Köseci, Habibe Koc Ucar   +3 more
openaire   +3 more sources

Integrated scRNA‐Seq and Spatial Transcriptomics Reveal CHPF and GPC1 as Markers of Cancer‐Associated Fibroblast–Dominant Domains in Colorectal Cancer

Cancer Medicine, Volume 15, Issue 10, October 2026.
ABSTRACT Spatial heterogeneity in the colorectal cancer (CRC) tumor microenvironment (TME) is closely related to stromal organization and may influence treatment‐related features. In this study, we integrated single‐cell RNA sequencing and spatial transcriptomic data from CRC tissues to examine cancer‐associated fibroblast (CAF)‐dominant spatial ...
Yuan‐jie Liu, Qian‐wen Ye, Hui Zhang, Ning Yang, Yang Li, Jie‐pin Li   +5 more
wiley   +1 more source

Smoking, DNA Methylation, and Lung Function:a Mendelian Randomization Analysis to Investigate Causal Pathways [PDF]

, 2020
Whether smoking-associated DNA methylation has a causal effect on lung function has not been thoroughly evaluated. We first investigated the causal effects of 474 smoking-associated CpGs on forced expiratory volume in 1 s (FEV1) in UK Biobank (n = 321 ...
Burrows, Kimberley, Gaunt, Tom R., Wootton, Robyn E., Relton, Caroline, Munafò, Marcus, Tilling, Kate, Battram, Thomas, Richardson, Tom G., Guyatt, Anna L., Richmond, Rebecca C., Jamieson, Emily, Davey Smith, George, Korologou-Linden, Roxanna, Tobin, Martin D.   +13 more
core   +1 more source

Mast Cells Selectively Deliver Extracellular Vesicle‐Encapsulated mRNA to Colorectal Cancer Cells

Immunology &Cell Biology, Volume 104, Issue 8, Page 740-756, September 2026.
Schematic overview of mast cell‐colorectal cancer cell interactions. Mast cells bind to colorectal cancer cells through integrin‐mediated adhesion (1). Calcium influx arises in mast cells (2). Calcium signaling is required for the release of mRNA‐ and protein‐containing vesicles (3), resulting in the transfer of mast cell‐derived mRNA and proteins to ...
Rosie Lanzloth, Bader El Farran, Ram Podicheti, Douglas B. Rusch, Heather M. O'Hagan   +4 more
wiley   +1 more source

Additional file 7 of Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene

, 2021
Additional file 7: Supplemental Table 4. Primer Sequences.
Heft Neal, Molly E., Birkeland, Andrew C., Bhangale, Apurva D., Zhai, Jingyi, Kulkarni, Aditi, Foltin, Susan K., Jewell, Brittany M., Ludwig, Megan L., Pinatti, Lisa, Jiang, Hui, McHugh, Jonathan B., Marentette, Lawence, McKean, Erin L., Brenner, J. Chad   +13 more
openaire   +1 more source

Additional file 3 of Genetic analysis of sinonasal undifferentiated carcinoma discovers recurrent SWI/SNF alterations and a novel PGAP3-SRPK1 fusion gene

, 2021
Additional file 3: Supplemental Figure 3. Linked read genome sequencing identifies structural variations in the MDA8788-6 genome involving ZNF546 and AXL as well as CREB3L2 and BRAF.
Heft Neal, Molly E., Birkeland, Andrew C., Bhangale, Apurva D., Zhai, Jingyi, Kulkarni, Aditi, Foltin, Susan K., Jewell, Brittany M., Ludwig, Megan L., Pinatti, Lisa, Jiang, Hui, McHugh, Jonathan B., Marentette, Lawence, McKean, Erin L., Brenner, J. Chad   +13 more
openaire   +1 more source

Mapping Genetic Regulation of Transcription to Identify Functional Variants and Genes Associated with Pancreatic Cancer Risk

Advanced Science, Volume 13, Issue 29, 22 May 2026.
Integration of a pancreatic eQTL map with a GWAS meta‐analysis identifies 82 putative functional variants and 15 genes. The association between rs11102484 and pancreatic cancer risk is observed in a total of 5699 cases and 8467 controls. The G allele of rs11102484 weakens ZNF263 binding and the silencer‐promoter interaction, thereby increasing ST7L ...
Xiaoyang Wang, Hui Geng, Zhengyan Yao, Yuan Jiang, Can Chen, Zequn Lu, Shuangshuang Tian, Ming Zhang, Ruiyan Liu, Chenxi Feng, Bin Li, Xiaoping Miao, Jianbo Tian, Shaokai Zhang, Ying Zhu   +14 more
wiley   +1 more source

Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis

Genome Medicine, 2018
Background Glycosylphosphatidylinositol biosynthesis defects (GPIBDs) cause a group of phenotypically overlapping recessive syndromes with intellectual disability, for which pathogenic mutations have been described in 16 genes of the corresponding ...
Alexej Knaus, Jean Tori Pantel, Manuela Pendziwiat, Nurulhuda Hajjir, Max Zhao, Tzung-Chien Hsieh, Max Schubach, Yaron Gurovich, Nicole Fleischer, Marten Jäger, Sebastian Köhler, Hiltrud Muhle, Christian Korff, Rikke S. Møller, Allan Bayat, Patrick Calvas, Nicolas Chassaing, Hannah Warren, Steven Skinner, Raymond Louie, Christina Evers, Marc Bohn, Hans-Jürgen Christen, Myrthe van den Born, Ewa Obersztyn, Agnieszka Charzewska, Milda Endziniene, Fanny Kortüm, Natasha Brown, Peter N. Robinson, Helenius J. Schelhaas, Yvonne Weber, Ingo Helbig, Stefan Mundlos, Denise Horn, Peter M. Krawitz   +35 more
doaj   +1 more source