PMC Articles for MedGen (Select 383145) - PMC

Roni Zemet, Kyle D. Hope, Andrew C. Edmondson, Rameen Shah, Maria Patino, Abigail M. Yesso, Justin H. Berger, Kyriakie Sarafoglou, Austin Larson, Christina Lam, Eva Morava, Fernando Scaglia

Mol Genet Metab. Author manuscript; available in PMC 2024 Aug 3.

Published in final edited form as: Mol Genet Metab. 2024 Aug; 142(4): 108513. Published online 2024 Jun 13. doi: 10.1016/j.ymgme.2024.108513

PMCID:: PMC11296892

Article PDF–717K

Select item 112516935.

Clinical and Biochemical Footprints of Congenital Disorders of Glycosylation: Proposed Nosology

Bobby G. Ng, Hudson H. Freeze, Nastassja Himmelreich, Nenad Blau, Carlos R. Ferreira

Mol Genet Metab. Author manuscript; available in PMC 2024 Jul 16.

Published in final edited form as: Mol Genet Metab. 2024 May; 142(1): 108476. Published online 2024 Apr 10. doi: 10.1016/j.ymgme.2024.108476

PMCID:: PMC11251693

Article PDF–1.4M

Select item 111216716.

Rare Genetic Developmental Disabilities: Mabry Syndrome (MIM 239300) Index Cases and Glycophosphatidylinositol (GPI) Disorders

Miles D. Thompson, Alexej Knaus

Genes (Basel) 2024 May; 15(5): 619. Published online 2024 May 14. doi: 10.3390/genes15050619

PMCID:: PMC11121671

Article PDF–2.5M

Select item 110191437.

Congenital disorders of glycosylation with multiorgan disruption and immune dysregulation caused by compound heterozygous variants in MAN2B2

Shiqi Fan, Huanhuan Wu, Rongrong Wang, Qian Chen, Xue Zhang

Mol Genet Genomic Med. 2024 Apr; 12(4): e2422. Published online 2024 Apr 15. doi: 10.1002/mgg3.2422

PMCID:: PMC11019143

Article PDF–3.0M

Select item 110145578.

Molecular characterization of Rft1, an ER membrane protein associated with congenital disorder of glycosylation RFT1-CDG

Eri Hirata, Ken-taro Sakata, Grace I. Dearden, Faria Noor, Indu Menon, George N. Chiduza, Anant K. Menon

Version 2. bioRxiv. Preprint. 2024 Apr 3 [revised 2024 Jun 22]. doi: 10.1101/2024.04.03.587922

Published in:: J Biol Chem. 2024 Aug; 300(8): 107584.

PMCID:: PMC11014557

Article PDF–4.5M

Select item 109174949.

Drosophila models of phosphatidylinositol glycan biosynthesis class A congenital disorder of glycosylation (PIGA-CDG) mirror patient phenotypes

Holly J Thorpe, Katie G Owings, Miriam C Aziz, Madelyn Haller, Emily Coelho, Clement Y Chow

G3 (Bethesda) 2024 Mar; 14(3): jkad291. Published online 2023 Dec 20. doi: 10.1093/g3journal/jkad291

PMCID:: PMC10917494

Article PDF–3.6M

Select item 1084080610.

Combined PMM2-CDG and hereditary fructose intolerance in a patient with mild clinical presentation

Xinying Hong, Andrew C. Edmondson, Alanna Strong, Daniel Pomerantz, Emma Michl, Gerard Berry, Miao He

Mol Genet Metab. Author manuscript; available in PMC 2024 Nov 1.

Published in final edited form as: Mol Genet Metab. 2023 Nov; 140(3): 107682. Published online 2023 Aug 9. doi: 10.1016/j.ymgme.2023.107682

PMCID:: PMC10840806

Article PDF–591K

Select item 1083786511.

Instrumented assessment of gait disturbance in PMM2-CDG adults: a feasibility analysis

Lara Cirnigliaro, Fabio Pettinato, Maria Stella Valle, Antonino Casabona, Agata Fiumara, Michele Vecchio, Valerio Amico, Renata Rizzo, Jaak Jaeken, Rita Barone, Matteo Cioni

Orphanet J Rare Dis. 2024; 19: 39. Published online 2024 Feb 2. doi: 10.1186/s13023-024-03027-x

PMCID:: PMC10837865

Article PDF–1.2M

Select item 1081691812.

Targeted Proteomics Reveals Quantitative Differences in Low-Abundance Glycosyltransferases of Patients with Congenital Disorders of Glycosylation

Roman Sakson, Lars Beedgen, Patrick Bernhard, K. Merve Alp, Nicole Lübbehusen, Ralph Röth, Beate Niesler, Marcin Luzarowski, Olga Shevchuk, Matthias P. Mayer, Christian Thiel, Thomas Ruppert

Int J Mol Sci. 2024 Jan; 25(2): 1191. Published online 2024 Jan 18. doi: 10.3390/ijms25021191

PMCID:: PMC10816918

Article PDF–3.9M

Select item 1065398313.

An Oligogenic Case of Severe Neonatal Thrombocytopenia and a Purportedly Benign Variant in GFI1B Requiring Reinterpretation

Max Frenkel, April Hall, M. Stephen Meyn, Carol A. Diamond

Platelets. Author manuscript; available in PMC 2024 Dec 1.

Published in final edited form as: Platelets. 2023 Dec; 34(1): 2237592. doi: 10.1080/09537104.2023.2237592

PMCID:: PMC10653983

Article PDF–350K

Select item 1053065714.

Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation

Diederik de Graef, Anna N. Ligezka, Joseph Rezents, Gina L. Mazza, Graeme Preston, Kaitlin Schwartz, Wirginia Krzysciak, Christina Lam, Andrew C Edmondson, Christin Johnsen, Tamas Kozicz, Eva Morava

Mol Genet Metab. Author manuscript; available in PMC 2024 Jun 1.

Published in final edited form as: Mol Genet Metab. 2023 Jun; 139(2): 107606. Published online 2023 May 9. doi: 10.1016/j.ymgme.2023.107606

PMCID:: PMC10530657

Article PDF–331K

Select item 1045476815.

Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG

Anna N. Ligezka, Rohit Budhraja, Yurika Nishiyama, Fabienne C. Fiesel, Graeme Preston, Andrew Edmondson, Wasantha Ranatunga, Johan L. K. Van Hove, Jens O. Watzlawik, Wolfdieter Springer, Akhilesh Pandey, Eva Morava, Tamas Kozicz

Genes (Basel) 2023 Aug; 14(8): 1585. Published online 2023 Aug 4. doi: 10.3390/genes14081585

PMCID:: PMC10454768

Article PDF–2.8M

Select item 1037933416.

SLC5A1 Variants in Turkish Patients with Congenital Glucose-Galactose Malabsorption

Ferda Ö. Hoşnut, Andreas R. Janecke, Gülseren Şahin, Georg F. Vogel, Naz G. Lafcı, Paul Bichler, Thomas Müller, Lukas A. Huber, Taras Valovka, Aysel Ü. Aksu

Genes (Basel) 2023 Jul; 14(7): 1359. Published online 2023 Jun 27. doi: 10.3390/genes14071359

PMCID:: PMC10379334

Article PDF–3.9M

Select item 1031557717.

Activation of ryanodine-sensitive calcium store drives pseudo-allergic dermatitis via Mas-related G protein-coupled receptor X2 in mast cells

Zhao Wang, Xi Zhao, Hongmei Zhou, Delu Che, Xiaojie Du, Dan Ye, Weihui Zeng, Songmei Geng

Front Immunol. 2023; 14: 1207249. Published online 2023 Jun 19. doi: 10.3389/fimmu.2023.1207249

PMCID:: PMC10315577

Article PDF–4.9M

Select item 1031391318.

Tracer metabolomics reveals the role of aldose reductase in glycosylation

Silvia Radenkovic, Anna N. Ligezka, Sneha S. Mokashi, Karen Driesen, Lynn Dukes-Rimsky, Graeme Preston, Luckio F. Owuocha, Leila Sabbagh, Jehan Mousa, Christina Lam, Andrew Edmondson, Austin Larson, Matthew Schultz, Pieter Vermeersch, David Cassiman, Peter Witters, Lesa J. Beamer, Tamas Kozicz, Heather Flanagan-Steet, Bart Ghesquière, Eva Morava

Cell Rep Med. 2023 Jun 20; 4(6): 101056. Published online 2023 May 30. doi: 10.1016/j.xcrm.2023.101056

PMCID:: PMC10313913

Article PDF–6.1M

Select item 1030958519.

An O-GlcNAc transferase pathogenic variant linked to intellectual disability affects pluripotent stem cell self-renewal

Michaela Omelková, Christina Dühring Fenger, Marta Murray, Trine Bjørg Hammer, Veronica M. Pravata, Sergio Galan Bartual, Ignacy Czajewski, Allan Bayat, Andrew T. Ferenbach, Marios P. Stavridis, Daan M. F. van Aalten

Dis Model Mech. 2023 Jun 1; 16(6): dmm049132. Published online 2023 Jun 19. doi: 10.1242/dmm.049132