PMC Articles for MedGen (Select 1782278) - PMC

Select item 64183501.

The promising role of PAX1 (aliases: HUP48, OFC2) gene methylation in cancer screening

Chao Fang, Sai‐Ying Wang, Yu‐Ligh Liou, Ming‐Hua Chen, Wen Ouyang, Kai‐Ming Duan

Mol Genet Genomic Med. 2019 Mar; 7(3): e506. Published online 2019 Jan 12. doi: 10.1002/mgg3.506

PMCID:: PMC6418350

Select item 109581382.

Expanding the clinical and immunological phenotypes of PAX1-deficient SCID and CID patients

Nalan Yakici, Alexandra Y. Kreins, Mehmet Cihangir Catak, Royala Babayeva, Baran Erman, Heather Kenney, Hatice Eke Gungor, Pablo A. Cea, Tomoki Kawai, Marita Bosticardo, Ottavia Maria Delmonte, Stuart Adams, Yu-Tong Fan, Francesca Pala, Ayberk Turkyilmaz, Evey Howley, Austen Worth, Hakan Kot, Asena Pinar Sefer, Altan Kara, Alper Bulutoglu, Sevgi Bilgic-Eltan, Melek Yorgun Altunbas, Feyza Bayram Catak, Ibrahim Serhat Karakus, Emrah Karatay, Sidem Didar Tekeoglu, Metin Eser, Davut Albayrak, Senol Citli, Ayca Kiykim, Elif Karakoc-Aydiner, Ahmet Ozen, Sujal Ghosh, Holger Gohlke, Fazil Orhan, Luigi D. Notarangelo, E. Graham Davies, Safa Baris

Clin Immunol. 2023 Oct; 255: 109757. doi: 10.1016/j.clim.2023.109757

Correction in:: Clin Immunol. 2023 Nov; 256: 109799.

PMCID:: PMC10958138

Abstract Article PDF–3.9M

Select item 107547233.

A Novel Truncating Mutation in PAX1 Gene Causes Otofaciocervical Syndrome Without Immunodeficiency

Nagham M. Elbagoury, Asmaa F. Abdel-Aleem, Wessam E. Sharaf-Eldin, Engy A. Ashaat, Mona L. Esswai

J Mol Neurosci. 2023; 73(11-12): 976–982. Published online 2023 Nov 4. doi: 10.1007/s12031-023-02170-7

PMCID:: PMC10754723

Abstract Article PDF–1000K

Select item 95538804.

Extending the PAX1 spectrum: a dominantly inherited variant causes oculo-auriculo-vertebral syndrome

Shannon Carter, Bridget J. Fellows, Kate Gibson, Louise S. Bicknell

Eur J Hum Genet. 2022 Oct; 30(10): 1178–1181. Published online 2022 Jul 25. doi: 10.1038/s41431-022-01154-2

PMCID:: PMC9553880

Abstract Article PDF–863K

Select item 74570795.

T-Cell Immunodeficiencies With Congenital Alterations of Thymic Development: Genes Implicated and Differential Immunological and Clinical Features

Giuliana Giardino, Carla Borzacchiello, Martina De Luca, Roberta Romano, Rosaria Prencipe, Emilia Cirillo, Claudio Pignata

Front Immunol. 2020; 11: 1837. Published online 2020 Aug 14. doi: 10.3389/fimmu.2020.01837

PMCID:: PMC7457079

Abstract Article PDF–684K

Select item 72323786.

CRISPR-Mediated Knockout of the ABCC2 Gene in Ostrinia furnacalis Confers High-Level Resistance to the Bacillus thuringiensis Cry1Fa Toxin

Xingliang Wang, Yanjun Xu, Jianlei Huang, Wenzhong Jin, Yihua Yang, Yidong Wu

Toxins (Basel) 2020 Apr; 12(4): 246. Published online 2020 Apr 11. doi: 10.3390/toxins12040246

PMCID:: PMC7232378

Abstract Article PDF–1.4M

Select item 72147917.

Molecular Insights Into the Causes of Human Thymic Hypoplasia With Animal Models

Pratibha Bhalla, Christian A. Wysocki, Nicolai S. C. van Oers

Front Immunol. 2020; 11: 830. Published online 2020 May 5. doi: 10.3389/fimmu.2020.00830

PMCID:: PMC7214791

Abstract Article PDF–994K

Select item 71892078.

PAX1 is essential for development and function of the human thymus

Yasuhiro Yamazaki, Raul Urrutia, Luis M. Franco, Silvia Giliani, Kejian Zhang, Anas M. Alazami, A. Kerry Dobbs, Stefania Masneri, Avni Joshi, Francisco Otaizo-Carrasquero, Timothy G. Myers, Sundar Ganesan, Maria Pia Bondioni, Mai Lan Ho, Catherine Marks, Huda Alajlan, Reem W Mohammed, Fanggeng Zou, C. Alexander Valencia, Alexandra H. Filipovich, Fabio Facchetti, Bertrand Boisson, Chiara Azzari, Bander K. Al-Saud, Hamoud Al-Mousa, Jean Laurent Casanova, Roshini S. Abraham, Luigi D. Notarangelo

Sci Immunol. Author manuscript; available in PMC 2020 Aug 28.

Published in final edited form as: Sci Immunol. 2020 Feb 28; 5(44): eaax1036. doi: 10.1126/sciimmunol.aax1036

PMCID:: PMC7189207

Abstract Article PDF–2.2M

Select item 80125249.

Current and Future Therapeutic Approaches for Thymic Stromal Cell Defects

Alexandra Y. Kreins, Paola Bonfanti, E. Graham Davies

Front Immunol. 2021; 12: 655354. Published online 2021 Mar 18. doi: 10.3389/fimmu.2021.655354

PMCID:: PMC8012524

Abstract Article PDF–668K

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