PMC Articles for MedGen (Select 342954) - PMC

Links from MedGen

Items: 1 to 20 of 500

<< First< Prev

Page of 25

Select item 63115121.

Abrogation of glucosidase I–mediated glycoprotein deglucosylation results in a sick phenotype in fission yeasts: Model for the human MOGS-CDG disorder

Giovanna L. Gallo, Ayelén Valko, Sofía I. Aramburu, Emiliana Etchegaray, Christof Völker, Armando J. Parodi, Cecilia D'Alessio

J Biol Chem. 2018 Dec 28; 293(52): 19957–19973. Published online 2018 Nov 2. doi: 10.1074/jbc.RA118.004844

PMCID:: PMC6311512

Article PubReader PDF–3.4M Cite

Select item 40664132.

Glycosylation, Hypogammaglobulinemia, and Resistance to Viral Infections

Dr. Mohammed A. Sadat, Dr. Susan Moir, Tae-Wook Chun, Paolo Lusso, Gerardo Kaplan, Lynne Wolfe, Matthew J. Memoli, Miao He, Hugo Vega, Leo J.Y. Kim, Yan Huang, Nadia Hussein, Elma Nievas, Raquel Mitchell, Mary Garofalo, Aaron Louie, Derek C. Ireland, Claire Grunes, Raffaello Cimbro, Vyomesh Patel, Genevieve Holzapfel, Daniel Salahuddin, Tyler Bristol, David Adams, Beatriz E. Marciano, Madhuri Hegde, Yuxing Li, Katherine R. Calvo, Jennifer Stoddard, J. Shawn Justement, Jerome Jacques, Debra A. Long Priel, Danielle Murray, Peter Sun, Douglas B. Kuhns, Cornelius F. Boerkoel, John A. Chiorini, Giovanni Di Pasquale, Daniela Verthelyi, Sergio D. Rosenzweig

N Engl J Med. Author manuscript; available in PMC 2014 Oct 24.

Published in final edited form as: N Engl J Med. 2014 Apr 24; 370(17): 1615–1625. Published online 2014 Apr 9. doi: 10.1056/NEJMoa1302846

PMCID:: PMC4066413

Article PubReader PDF–815K Cite

Select item 37662793.

Deficiency of α-glucosidase I alters glycoprotein glycosylation and lifespan in Caenorhabditis elegans

Toshihiko Katoh, Juri Takase, Yasushi Tani, Ryuta Amamoto, Naofumi Aoshima, Michael Tiemeyer, Kenji Yamamoto, Hisashi Ashida

Glycobiology. 2013 Oct; 23(10): 1142–1151. Published online 2013 Jul 7. doi: 10.1093/glycob/cwt051

PMCID:: PMC3766279

Article PubReader PDF–688K Cite

Select item 106391204.

Insights into the regulation of cellular Mn²⁺ homeostasis via TMEM165

Dorothée Vicogne, Nicolas Beauval, Zoé Durin, Delphine Allorge, Kateryna Kondratska, Aurélien Haustrate, Natasha Prevarskaya, Vladimir Lupashin, Dominique Legrand, François Foulquier

Biochim Biophys Acta Mol Basis Dis. Author manuscript; available in PMC 2023 Nov 11.

Published in final edited form as: Biochim Biophys Acta Mol Basis Dis. 2023 Aug; 1869(6): 166717. Published online 2023 Apr 14. doi: 10.1016/j.bbadis.2023.166717

PMCID:: PMC10639120

Article PubReader PDF–1.7M Cite

Select item 106194365.

ST6GAL1 sialyltransferase promotes acinar to ductal metaplasia and pancreatic cancer progression

Nikita Bhalerao, Asmi Chakraborty, Michael P. Marciel, Jihye Hwang, Colleen M. Britain, Austin D. Silva, Isam E. Eltoum, Robert B. Jones, Katie L. Alexander, Lesley E. Smythies, Phillip D. Smith, David K. Crossman, Michael R. Crowley, Boyoung Shin, Laurie E. Harrington, Zhaoqi Yan, Maigen M. Bethea, Chad S. Hunter, Christopher A. Klug, Donald J. Buchsbaum, Susan L. Bellis

JCI Insight. 2023 Oct 9; 8(19): e161563. Published online 2023 Oct 9. doi: 10.1172/jci.insight.161563

PMCID:: PMC10619436

Article PubReader PDF–21M Cite

Select item 106120656.

Sequence-Based Antigenic Analyses of H1 Swine Influenza A Viruses from Colombia (2008–2021) Reveals Temporal and Geographical Antigenic Variations

Andres F. Ospina-Jimenez, Arlen P. Gomez, Maria A. Rincon-Monroy, Lucia Ortiz, Daniel R. Perez, Mario Peña, Gloria Ramirez-Nieto

Viruses. 2023 Oct; 15(10): 2030. Published online 2023 Sep 30. doi: 10.3390/v15102030

PMCID:: PMC10612065

Article PubReader PDF–3.3M Cite

Select item 106114097.

The Isolation and Characterization of a Novel Group III-Classified Getah Virus from a Commercial Modified Live Vaccine against PRRSV

Xintao Gao, Jialei Li, Tong Wu, Jinping Dou, Wenrong Zhang, Hong Jia, Zhifang Zhang, Xingjian Liu, Yinü Li

Viruses. 2023 Oct; 15(10): 2090. Published online 2023 Oct 14. doi: 10.3390/v15102090

PMCID:: PMC10611409

Article PubReader PDF–1.8M Cite

Select item 106069318.

Sequence Analysis of the Malaysian Low Pathogenic Avian Influenza Virus Strain H5N2 from Duck

Fatin Ahmad Rizal, Kok Lian Ho, Abdul Rahman Omar, Wen Siang Tan, Abdul Razak Mariatulqabtiah, Munir Iqbal

Genes (Basel) 2023 Oct; 14(10): 1973. Published online 2023 Oct 22. doi: 10.3390/genes14101973

PMCID:: PMC10606931

Article PubReader PDF–442K Cite

Select item 106061019.

The Role of IgLON Cell Adhesion Molecules in Neurodegenerative Diseases

Marco Salluzzo, Clara Vianello, Sandra Abdullatef, Roberto Rimondini, Giovanni Piccoli, Lucia Carboni

Genes (Basel) 2023 Oct; 14(10): 1886. Published online 2023 Sep 28. doi: 10.3390/genes14101886

PMCID:: PMC10606101

Article PubReader PDF–3.1M Cite

Select item 1060496110.

CRISPR-Cas9 KO Cell Line Generation and Development of a Cell-Based Potency Assay for rAAV-FKRP Gene Therapy

Marine Geoffroy, Louna Pili, Valentina Buffa, Maëlle Caroff, Anne Bigot, Evelyne Gicquel, Grégory Rouby, Isabelle Richard, Romain Fragnoud

Cells. 2023 Oct; 12(20): 2444. Published online 2023 Oct 12. doi: 10.3390/cells12202444

PMCID:: PMC10604961

Article PubReader PDF–2.8M Cite

Select item 1060160611.

Distinct lineages of Ebola virus in Guinea during the 2014 West African epidemic

Etienne Simon-Loriere, Ousmane Faye, Oumar Faye, Lamine Koivogui, Nfaly Magassouba, Sakoba Keita, Jean-Michel Thiberge, Laure Diancourt, Christiane Bouchier, Matthias Vandenbogaert, Valérie Caro, Gamou Fall, Jan P. Buchmann, Christan B. Matranga, Pardis C. Sabeti, Jean-Claude Manuguerra, Edward C. Holmes, Amadou A. Sall

Nature. 2015; 524(7563): 102–104. Published online 2015 Jun 24. doi: 10.1038/nature14612

PMCID:: PMC10601606

Article PubReader PDF–1.6M Cite

Select item 1058581212.

Congenital disorders of glycosylation (CDG): state of the art in 2022

Rita Francisco, Sandra Brasil, Joana Poejo, Jaak Jaeken, Carlota Pascoal, Paula A. Videira, Vanessa dos Reis Ferreira

Orphanet J Rare Dis. 2023; 18: 329. Published online 2023 Oct 19. doi: 10.1186/s13023-023-02879-z

PMCID:: PMC10585812

Article PubReader PDF–1.0M Cite

Select item 1058509613.

A novel Fas ligand plays an important role in cell apoptosis of Crassostrea hongkongensis: molecular cloning, expression profiles and functional identification of ChFasL

Yanping Qin, Weitao Wan, Jiangwei Li, Zhongyu Wang, Yue Yang, Jun Li, Haitao Ma, Ziniu Yu, Zhiming Xiang, Yuehuan Zhang

Front Immunol. 2023; 14: 1267772. Published online 2023 Oct 5. doi: 10.3389/fimmu.2023.1267772

PMCID:: PMC10585096

Article PubReader PDF–9.4M Cite

Select item 1058208414.

Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation

Sjors M. Kas, Piyushkumar A. Mundra, Duncan L. Smith, Richard Marais

Sci Rep. 2023; 13: 17648. Published online 2023 Oct 17. doi: 10.1038/s41598-023-42178-y

PMCID:: PMC10582084

Article PubReader PDF–16M Cite

Select item 1058207815.

O-GlcNAcylation regulates neurofilament-light assembly and function and is perturbed by Charcot-Marie-Tooth disease mutations

Duc T. Huynh, Kalina N. Tsolova, Abigail J. Watson, Sai Kwan Khal, Jordan R. Green, Di Li, Jimin Hu, Erik J. Soderblom, Jen-Tsan Chi, Chantell S. Evans, Michael Boyce

Nat Commun. 2023; 14: 6558. Published online 2023 Oct 17. doi: 10.1038/s41467-023-42227-0

PMCID:: PMC10582078

Article PubReader PDF–4.7M Cite

Select item 1057652016.

Alterations in ileal transcriptomics during an intestinal barrier challenge in lactating Holstein cows fed a Saccharomyces cerevisiae fermentation product identify potential regulatory processes

Qianming Jiang, Valentino Palombo, Danielle N Sherlock, Mario Vailati-Riboni, Mariasilvia D’Andrea, Ilkyu Yoon, Juan J Loor

J Anim Sci. 2023; 101: skad277. Published online 2023 Aug 24. doi: 10.1093/jas/skad277

PMCID:: PMC10576520

Article PubReader PDF–1.4M Cite

Select item 1057354117.

Apolipoprotein-CIII O-Glycosylation, a Link between GALNT2 and Plasma Lipids

Annemieke Naber, Daniel Demus, Roderick Slieker, Simone Nicolardi, Joline W. J. Beulens, Petra J. M. Elders, Aloysius G. Lieverse, Eric J. G. Sijbrands, Leen M. ’t Hart, Manfred Wuhrer, Mandy van Hoek

Int J Mol Sci. 2023 Oct; 24(19): 14844. Published online 2023 Oct 2. doi: 10.3390/ijms241914844

PMCID:: PMC10573541

Article PubReader PDF–571K Cite

Select item 1056905918.

Cerebral and portal vein thrombosis, macrocephaly and atypical absence seizures in Glycosylphosphatidyl Inositol deficiency due to a PIGM promoter mutation

Ben Pode-Shakked, Gali Heimer, Thierry Vilboux, Dina Marek-Yagel, Bruria Ben-Zeev, Mariska Davids, Carlos R. Ferreira, Amit Mary Philosoph, Alvit Veber, Naomi Pode-Shakked, Gili Kenet, Michalle Soudack, Chen Hoffmann, Helly Vernitsky, Marina Safaniev, Maya Lodzki, Avishay Lahad, Dror S. Shouval, Dana Levinkopf, Batia Weiss, Assaf Arie Barg, Ayman Daka, Ninette Amariglio, May Christine V. Malicdan, William A. Gahl, Yair Anikster

Mol Genet Metab. Author manuscript; available in PMC 2023 Oct 12.

Published in final edited form as: Mol Genet Metab. 2019 Sep-Oct; 128(1-2): 151–161. Published online 2019 Aug 14. doi: 10.1016/j.ymgme.2019.08.003

PMCID:: PMC10569059

Article PubReader PDF–2.0M Cite

Select item 1054541019.

Loss of KDM6B epigenetically confers resistance to lipotoxicity in nonalcoholic fatty liver disease–related HCC

Megumi Hatano, Yoshimitsu Akiyama, Shu Shimada, Kohei Yagi, Keiichi Akahoshi, Michiko Itoh, Minoru Tanabe, Yoshihiro Ogawa, Shinji Tanaka

Hepatol Commun. 2023 Oct; 7(10): e0277. Published online 2023 Oct 2. doi: 10.1097/HC9.0000000000000277

PMCID:: PMC10545410

Article PubReader PDF–1.5M Cite

Select item 1051952320.

Mendelian randomization explores the causal relationships between obesity, diabetes, inflammation and nonalcoholic fatty liver disease

Xing Wang, Dianpeng Zhao, Lichao Cheng, Jing Gao, Jian Li, Chao Geng

Medicine (Baltimore) 2023 Sep 22; 102(38): e34638. Published online 2023 Sep 22. doi: 10.1097/MD.0000000000034638

PMCID:: PMC10519523

Article PubReader PDF–521K Cite

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 500

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity