Results 21 to 30 of about 1,085 (147)

Transcriptome-wide association study and Mendelian randomization in pancreatic cancer identifies susceptibility genes and causal relationships with type 2 diabetes and venous thromboembolismResearch in context [PDF]

EBioMedicine
Summary: Background: Two important questions regarding the genetics of pancreatic adenocarcinoma (PDAC) are 1. Which germline genetic variants influence the incidence of this cancer; and 2.
Marcus C.B. Tan, Chelsea A. Isom, Yangzi Liu, David-Alexandre Trégouët, Lang Wu, Dan Zhou, Eric R. Gamazon, Sara Lindstrom, Lu Wang, Erin Smith, William Gordon, Astrid Van Hylckama Vlieg, Mariza De Andrade, Jennifer Brody, Jack Pattee, Jeffrey Haessler, Ben Brumpton, Daniel Chasman, Pierre Suchon, Ming-Huei Chen, Constance Turman, Marine Germain, Kerri Wiggins, James MacDonald, Sigrid Braekkan, Sebastian Armasu, Nathan Pankratz, Rabecca Jackson, Jonas Nielsen, Franco Giulianini, Marja Puurunen, Manal Ibrahim, Susan Heckbert, Theo Bammler, Kelly Frazer, Bryan McCauley, Kent Taylor, James Pankow, Alexander Reiner, Maiken Gabrielsen, Jean-François Deleuze, Chris O'Donnell, Jihye Kim, Barbara McKnight, Peter Kraft, John-Bjarne Hansen, Frits Rosendaal, John Heit, Bruce Psaty, Weihong Tang, Charles Kooperberg, Kristian Hveem, Paul Ridker, Pierre-Emmanuel Morange, Andrew Johnson, Christopher Kabrhel, David-Alexandre Trégouët, Nicholas Smith   +57 more
doaj   +2 more sources

PIGO Gene Variants: New Insights Into Prenatal Diagnosis. [PDF]

Prenat Diagn
Prenatal Diagnosis, Volume 45, Issue 8, Page 1058-1062, July 2025.
Zambiasi A, Aziza J, Chassaing N, Lebrun M, Sartor A, Langeois M, Dubucs C.   +6 more
europepmc   +2 more sources

Causal Exposures in Pancreatic Cancer Incidence: Insights From Mendelian Randomization Studies. [PDF]

JGH Open
ABSTRACT Aim Pancreatic cancer, marked by its high lethality and poor 5‐year survival rate, requires a thorough understanding of its risk factors and etiological mechanisms. In this review, we collected the latest findings from Mendelian randomization (MR) studies to identify potential causal factors for pancreatic cancer.
Mohamadkhani A, Ghanbari R, Shakeri R, Mohammadkhani MA, Pourshams A.   +4 more
europepmc   +2 more sources

Biomarker discovery with quantum neural networks: a case-study in CTLA4-activation pathways [PDF]

BMC Bioinformatics
Background Biomarker discovery is a challenging task due to the massive search space. Quantum computing and quantum Artificial Intelligence (quantum AI) can be used to address the computational problem of biomarker discovery from genetic data.
Phuong-Nam Nguyen
doaj   +2 more sources

Predicting glucocorticoid resistance in multiple sclerosis relapse via a whole blood transcriptomic analysis [PDF]

CNS Neuroscience &Therapeutics, Volume 30, Issue 2, February 2024., 2023
A whole blood transcriptomic analysis was performed to predict steroid resistance in multiple sclerosis relapse. Abstract Aims Treatment of multiple sclerosis (MS) relapses consists of short‐term administration of high‐dose glucocorticoids (GCs). However, over 40% of patients show an insufficient response to GC treatment.
Maud Bagnoud, Jana Remlinger, Sandrine Joly, Marine Massy, Anke Salmen, Andrew Chan, Dimitris Karathanassis, Maria‐Eleptheria Evangelopoulos, Robert Hoepner   +8 more
wiley   +3 more sources

A Treatable Cause of Seizures and Hyperphosphatasia: Patients with PGAP2 and PGAP3 Mutations. [PDF]

Mol Syndromol
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.
Burgac E, Yoldas Celik M, Köseci B, Koc Ucar H.   +3 more
europepmc   +4 more sources

Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3). [PDF]

Genes (Basel), 2023
We present a case report of a child with features of hyperphosphatasia with neurologic deficit (HPMRS) or Mabry syndrome (MIM 239300) with variants of unknown significance in two post-GPI attachments to proteins genes, PGAP2 and PGAP3, that underlie HPMRS 3 and 4. Background: In addition to HPMRS 3 and 4, disruption of four phosphatidylinositol glycan (
Thompson MD, Li X, Spencer-Manzon M, Andrade DM, Murakami Y, Kinoshita T, Carpenter TO.   +6 more
europepmc   +3 more sources

The circular RNA landscape in multiple sclerosis: Disease-specific associated variants and exon methylation shape circular RNA expression profile [PDF]

, 2023
BACKGROUND: Circular RNAs (circRNAs) are a class of non-coding RNAs increasingly emerging as crucial actors in the pathogenesis of human diseases, including autoimmune and neurological disorders as multiple sclerosis (MS).
Airi, Federica, Asselta, Rosanna, Cantoni, Claudia, Cardamone, Giulia, Cibella, Javier, Duga, Stefano, Gallia, Francesca, Gemmati, Donato, Liberatore, Giuseppe, Nobile-Orazio, Eduardo, Paraboschi, Elvezia Maria, Piccio, Laura, Rimoldi, Valeria, Soldà, Giulia, Tisato, Veronica   +14 more
core   +3 more sources

Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid [PDF]

, 2022
Glycosylphosphatidylinositol anchored proteins (GPI-APs) represent a class of molecules attached to the external leaflet of the plasma membrane by the GPI anchor where they play important roles in numerous cellular processes including neurogenesis, cell ...
Batzios, Spyros, Cullup, Thomas, Manea, Emanuela, Messina, Martina, Tuschl, Karin   +4 more
core   +1 more source

Endoplasmic Reticulum Export of GPI-Anchored Proteins [PDF]

, 2019
Protein export from the endoplasmic reticulum (ER) is an essential process in all eukaryotes driven by the cytosolic coat complex COPII, which forms vesicles at ER exit sites for transport of correctly assembled secretory cargo to the Golgi apparatus ...
López Martín, Sergio, Muñiz Guinea, Manuel, Rodríguez Gallardo, Sofía, Sabido Bozo, Susana   +3 more
core   +1 more source