Results 71 to 80 of about 212 (100)

Haploid genetic screening for factors required for GPI biosynthesis.

, 2015
The significance of the enrichment of gene trap insertions in enriched GPI-negative cells compared with the non-selected population was plotted as a bubble plot.
Daisuke Motooka (797341), Yi-Shi Liu (797342), Yusuke Maeda (558377), Morihisa Fujita (797345), Shota Nakamura (182646), Zeng-An He (797343), Xiao-Dong Gao (797344), Yao Rong (797339), Taroh Kinoshita (558383), Tetsuya Hirata (797340)   +9 more
core   +1 more source

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

CNS Neuroscience &Therapeutics, Volume 30, Issue 2, February 2024.
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   +1 more source

Multi-dimensional evidence establishing the causal association between metabolic syndrome and gout and the molecular mechanisms of comorbidity

Frontiers in Immunology
ObjectiveTo systematically evaluate the causal association between metabolic syndrome (MetS) and its components with gout through integrated multi-dimensional methods, and reveal the genetic basis and transcriptomic characteristics of comorbidity ...
Jianbin Li, Jianbin Li, Jiamin Zhang, Jiamin Zhang, Suiran Li, Suiran Li, Xiaoge Yao, Xiaoge Yao, Renhe Li, Renhe Li, Wei Liu, Wei Liu   +11 more
doaj   +1 more source

PIGO Gene Variants: New Insights Into Prenatal Diagnosis

Prenatal Diagnosis, Volume 45, Issue 8, Page 1058-1062, July 2025.
A. Zambiasi, J. Aziza, N. Chassaing, M. Lebrun, A. Sartor, M. Langeois, C. Dubucs   +6 more
wiley   +1 more source

Maximizing Diagnostic Yield in Intellectual Disability Through Exome Sequencing: Genotype–Phenotype Insights in a Vietnamese Cohort

Diagnostics
Background: Intellectual disability (ID) is a heterogeneous condition caused by diverse genetic factors, including single-nucleotide variants (SNVs) and copy number variants (CNVs).
Thu Lan Hoang, Thi Kim Phuong Doan, Thi Ngoc Lan Hoang, Cam Tu Ho, Thi Ha Vu, Thi Trang Nguyen, Thi Huyen Vu, Thi Trang Dao, Thi Minh Ngoc Nguyen, Phuong Mai Nguyen, Huu Duc Anh Nguyen, Chi Dung Vu, Phuong Thao Do, Quang Phuc Pham, Quang Trung Nguyen, Thi Phuong Mai Nguyen, Thi Thuy Ninh To, Hoa Giang, Thi Lan Anh Luong   +18 more
doaj   +1 more source

Identifying long indels in exome sequencing data of patients with intellectual disability

, 2018
Exome sequencing is a powerful tool for detecting both single and multiple nucleotide variation genome wide. However long indels, in the size range 20 – 200bp, remain difficult to accurately detect.
Tiia Reimand, Lisenka E.L.M. Vissers, Michael P. Kwint, Joris A. Veltman, Jayne Y. Hehir-Kwa, Rolph Pfundt, Katrin Õunap, Sander Pajusalu   +7 more
core   +1 more source

PGAP3 regulates human bronchial epithelial cell mRNAs present in asthma and respiratory virus reference data sets

Abstract PGAP3 is a glycosylphosphatidylinositol (GPI) phospholipase gene localized within chromosome 17q12-21, a region highly linked to asthma. Although much is known about the function of other chromosome 17q12-21 genes expressed at increased levels in bronchial epithelium such as ORMDL3 and GSDMB, little is known about the function ...
Eric Leslie, Marina Miller, Allison Lafuze, Sofya Svyatskaya, Gil-Soon Choi, David H. Broide   +5 more
openaire   +2 more sources

Asthma susceptibility variants are more strongly associated with clinically similar subgroups

, 2016
Objective: Genome-wide association studies (GWAS) identified single nucleotide polymorphisms (SNPs) reproducibly associated with asthma. This study evaluated whether GWAS-nominated SNPs are more strongly associated with asthma patients sharing the same ...
Yohan Bossé (69571), Jean-Christophe Bérubé (541667), Emilie Lavoie-Charland (2603113), Louis-Philippe Boulet (429773)   +3 more
core   +1 more source

Agnostic Pathway/Gene Set Analysis of Genome-Wide Association Data Identifies Associations for Pancreatic Cancer. [PDF]

, 2018
Background: Genome-wide association studies (GWAS) identify associations of individual single-nucleotide polymorphisms (SNPs) with cancer risk but usually only explain a fraction of the inherited variability.
Bracci, Paige M, Yu, Herbert, Strobel, Oliver, Collins, Irene, Hung, Rayjean J, Goodman, Gary E., Real, Francisco X., Hasan, Manal, Orlow, Irene, Oberg, Ann L, Holly, Elizabeth A, Klein, Eric A., Tobias, Geoffrey S, Mannisto, Satu, Stolzenberg-Solomon, Rachael Z., Silverman, Debra, Jacobs, Eric J., Sund, Malin, Amundadottir, Laufey T, Bamlet, William R., Duell, Eric J, Helzlsouer, Kathy J, Bracci, Paige M., M. Gaziano, J. Michael, Thornquist, Mark D., Zhang, Han, LeMarchand, Loic, Porta Serra, Miquel, Yu, Kai, Jacobs, Eric J, Wentzensen, Nicolas, Kraft, Peter, Patel, Alpa V., Porta, Miquel, Shu, Xiao O., Wang, Zhaoming, Cotterchio, Michelle, Klein, Alison P, Fuchs, Charles, Bueno-de-Mesquita, Bas, Giles, Graham G., Berndt, Sonja I., Wareham, Nick, Canzian, Federico, Wheeler, William, Babic, Ana, Sund, Malin,, Amundadottir, Laufey T., Brais, Lauren, Mocci, Evelina, Hoover, Robert, Gallinger, Steven, Van den Eeden, Stephen K., Peters, Ulrike, Li, Donghui, Borgida, Ayelet, Shu, Xiao O, Holcatova, Ivana, Haiman, Christopher, Klein, Eric A, Severi, Gianluca, Boutron-Ruault, Marie-Christine, Gaziano, J. Michael M., Chaffee, Kari G, Kooperberg, Charles, Giles, Graham G, Goggins, Michael, Sesso, Howard D, Goodman, Gary E, Kurtz, Robert C, Visvanathan, Kala, Wactawski-Wende, Jean, Cleary, Sean, Petersen, Gloria M., Goodman, Phyllis J, M Gaziano, J Michael, Neale, Rachel E., Oberg, Ann L., Milne, Roger L., Weiderpass, Elisabete, Janout, Vladimir, Hackert, Thilo, Neale, Rachel E, Albanes, Demetrius, Rothman, Nathaniel, Helzlsouer, Kathy J., Zeleniuch-Jacquotte, Anne, Buring, Julie, Scelo, Ghislaine, Laheru, Daniel, Lee, I-Min, Lu, Lingeng, Sesso, Howard D., Chaffee, Kari G., Risch, Harvey A, PanScan (NCI Cohort Consortium), Bamlet, William R, Stolzenberg-Solomon, Rachael Z, Petersen, Gloria M, Herman, Joseph, Goodman, Phyllis J., Giovannucci, Edward, Duell, Eric J., PanC4 consortia, White, Emily, Beane-Freeman, Laura, Olson, Sara H., Andreotti, Gabriella, Wolpin, Brian M, Tobias, Geoffrey S., Childs, Erica J, Walsh, Naomi, Hyland, Paula L, Zhang, Mingfeng, Real, Francisco X, Hyland, Paula L., Zheng, Wei, Thornquist, Mark D, Arslan, Alan A, Patel, Alpa V, Milne, Roger L, Berndt, Sonja I, Klein, Alison P., Van Den Eeden, Stephen K, Hartge, Patricia, Malats, Núria, Risch, Harvey A., Wolpin, Brian M., Hung, Rayjean J., Olson, Sara H, Brennan, Paul, Foretova, Lenka, Childs, Erica J., Kurtz, Robert C., Yang, Qi, Chanock, Stephen, Arslan, Alan A., Holly, Elizabeth A., PanScan PanC4 consortia, Yang, Q, Childs, EJ, Arslan, AA, Wang, Z, Zhang, M, Zhang, H, Hyland, PL, Collins, I, Mocci, E, Walsh, N   +148 more
core   +4 more sources

Phänotypische Charakterisierung von pathogenen Mutationen in GPIBDs [PDF]

, 2019
The glycosylphosphatidylinositol (GPI) anchor is a glycolipid with one function: teth-ering proteins to the cell surface. Synthesis and remodeling of the GPI anchor and linkage of proteins are highly conserved processes in a magnitude of species.
Knaus, Alexej
core   +1 more source