PMC Articles for MedGen (Select 1648376) - PMC

Danny Xuan-Rong Koh, Mohamed Afiq Hidayat Zailani, Raja Zahratul Azma Raja Sabudin, Sanggari Muniandy, Nur Awatif Akmal Muhamad Hata, Siti Noor Baya Mohd Noor, Norhazilah Zakaria, Ainoon Othman, Endom Ismail

PLoS One. 2023; 18(12): e0294891. Published online 2023 Dec 12. doi: 10.1371/journal.pone.0294891

PMCID:: PMC10715666

Abstract Article PDF–635K

Select item 107047407.

Prevalence of G6PD deficiency and submicroscopic malaria parasites carriage in malaria hotspot area in Northwest, Tanzania

Alphaxard Manjurano, Eric Lyimo, Coleman Kishamawe, Justin Omolo, Jacklin Mosha, Miyaye Donald, Paul Kazyoba, Saidi Kapiga, John Changalucha

Malar J. 2023; 22: 372. Published online 2023 Dec 7. doi: 10.1186/s12936-023-04801-1

PMCID:: PMC10704740

Abstract Article PDF–1.2M

Select item 106711098.

Multiple Roles of dXNP and dADD1—Drosophila Orthologs of ATRX Chromatin Remodeler

Larisa Melnikova, Anton Golovnin

Int J Mol Sci. 2023 Nov; 24(22): 16486. Published online 2023 Nov 18. doi: 10.3390/ijms242216486

PMCID:: PMC10671109

Abstract Article PDF–2.5M

Select item 106510429.

Molecular characterization of G6PD mutations identifies new mutations and a high frequency of intronic variants in Thai females

Kamonwan Chamchoy, Sirapapha Sudsumrit, Jutamas Wongwigkan, Songsak Petmitr, Duantida Songdej, Emily R. Adams, Thomas Edwards, Ubolsree Leartsakulpanich, Usa Boonyuen

PLoS One. 2023; 18(11): e0294200. Published online 2023 Nov 15. doi: 10.1371/journal.pone.0294200

PMCID:: PMC10651042

Abstract Article PDF–1.9M

Select item 1057647010.

Familial dyserythropoietic anaemia and thrombocytopenia due to an inherited mutation in GATA1

Kim E. Nichols, John D. Crispino, Mortimer Poncz, James G. White, Stuart H. Orkin, John M. Maris, Mitchell J. Weiss

Nat Genet. Author manuscript; available in PMC 2023 Oct 14.

Published in final edited form as: Nat Genet. 2000 Mar; 24(3): 266–270. doi: 10.1038/73480

PMCID:: PMC10576470

Abstract Article PDF–1.3M

Select item 1052148511.

Genetic basis and spatial distribution of glucose-6-phosphate dehydrogenase deficiency in ecuadorian ethnic groups: a malaria perspective

Sebastián Atarihuana, Jennifer Gallardo-Condor, Andrés López-Cortés, Karina Jimenes-Vargas, Germán Burgos, Ana Karina-Zambrano, Rodrigo Flores-Espinoza, Marco Coral, Alejandro Cabrera-Andrade

Malar J. 2023; 22: 283. Published online 2023 Sep 26. doi: 10.1186/s12936-023-04716-x

PMCID:: PMC10521485

Abstract Article PDF–1.7M

Select item 1036039012.

A new mouse model of ATR-X syndrome carrying a common patient mutation exhibits neurological and morphological defects

Rebekah Tillotson, Keqin Yan, Julie Ruston, Taylor DeYoung, Alex Córdova, Valérie Turcotte-Cardin, Yohan Yee, Christine Taylor, Shagana Visuvanathan, Christian Babbs, Evgueni A Ivakine, John G Sled, Brian J Nieman, David J Picketts, Monica J Justice

Hum Mol Genet. 2023 Aug 1; 32(15): 2485–2501. Published online 2023 May 12. doi: 10.1093/hmg/ddad075

PMCID:: PMC10360390

Abstract Article PDF–1.7M

Select item 1025909613.

Reprint of: The Diagnostic and Prognostic Utility of Incorporating DAXX, ATRX, and Alternative Lengthening of Telomeres (ALT) to the Evaluation of Pancreatic Neuroendocrine Tumors (PanNETs)

Christopher M. Heaphy, Aatur D. Singhi

Hum Pathol. Author manuscript; available in PMC 2023 Jun 12.

Published in final edited form as: Hum Pathol. 2023 Feb; 132: 1–11. Published online 2023 Jan 24. doi: 10.1016/j.humpath.2023.01.004

PMCID:: PMC10259096

Abstract Article PDF–1.9M

Select item 991175114.

Colorectal cancer patient-derived organoids and cell lines harboring ATRX and/or DAXX mutations lack Alternative Lengthening of Telomeres (ALT)

Marta Falcinelli, Giulia Dell’Omo, Elena Grassi, Elisa Mariella, Simonetta Maria Leto, Sharon Scardellato, Annalisa Lorenzato, Sabrina Arena, Andrea Bertotti, Livio Trusolino, Alberto Bardelli, Fabrizio d’Adda di Fagagna

Cell Death Dis. 2023 Feb; 14(2): 96. Published online 2023 Feb 9. doi: 10.1038/s41419-023-05640-3

PMCID:: PMC9911751

Abstract Article PDF–2.5M

Select item 990971815.

Reduction of Missed Diagnosis of G6PD Deficiency in Heterozygous Females by G6PD/6PGD Ratio Assay Combined with Amplification Refractory Mutation System PCR

Shiguo Chen, Jian Gao, Qunyan Wu, Xi Li, Sheng Lin, Jindi Su, Kaifeng Zheng, Zhaopeng Guo, Jilong Yao, Shan Duan

Hum Hered. 2023; 88(1): 1–7. Published online 2022 Oct 31. doi: 10.1159/000527806

PMCID:: PMC9909718

Abstract Article

Select item 986747316.

ONC201 Suppresses Neuroblastoma Growth by Interrupting Mitochondrial Function and Reactivating Nuclear ATRX Expression While Decreasing MYCN

Jian-Ching Wu, Chao-Cheng Huang, Pei-Wen Wang, Ting-Ya Chen, Wen-Ming Hsu, Jiin-Haur Chuang, Hui-Ching Chuang

Int J Mol Sci. 2023 Jan; 24(2): 1649. Published online 2023 Jan 13. doi: 10.3390/ijms24021649

PMCID:: PMC9867473

Abstract Article PDF–6.1M

Select item 967833817.

ATRX modulates the escape from a telomere crisis

Helene E. B. Geiller, Adam Harvey, Rhiannon E. Jones, Julia W. Grimstead, Kez Cleal, Eric A. Hendrickson, Duncan M. Baird

PLoS Genet. 2022 Nov; 18(11): e1010485. Published online 2022 Nov 9. doi: 10.1371/journal.pgen.1010485

PMCID:: PMC9678338

Abstract Article PDF–3.4M

Select item 960084818.

A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger

José M. Bastida, Stefano Malvestiti, Doris Boeckelmann, Verónica Palma-Barqueros, Mira Wolter, María L. Lozano, Hannah Glonnegger, Rocío Benito, Carlo Zaninetti, Felix Sobotta, Freimut H. Schilling, Neil V. Morgan, Kathleen Freson, José Rivera, Barbara Zieger

Cells. 2022 Oct; 11(20): 3223. Published online 2022 Oct 14. doi: 10.3390/cells11203223