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Select item 111852671.

Dysregulation of the TCF4 Isoform in Corneal Endothelial Cells of Patients With Fuchs Endothelial Corneal Dystrophy

Tetsuro Honda, Tatsuya Nakagawa, Taichi Yuasa, Yuichi Tokuda, Masakazu Nakano, Kei Tashiro, Theofilos Tourtas, Ursula Schlötzer-Schrehardt, Friedrich Kruse, Koji Yamamoto, Noriko Koizumi, Naoki Okumura

Invest Ophthalmol Vis Sci. 2024 Jun; 65(6): 27. Published online 2024 Jun 17. doi: 10.1167/iovs.65.6.27

PMCID:: PMC11185267

Abstract Article PDF–1.4M

Select item 111137592.

Transcription factor 4 (TCF4) and schizophrenia: integrating the animal and the human perspective

Boris B. Quednow, Magdalena M. Brzózka, Moritz J. Rossner

Cell Mol Life Sci. 2014 Aug; 71(15): 2815–2835. Published online 2014 Jan 12. doi: 10.1007/s00018-013-1553-4

PMCID:: PMC11113759

Abstract Article PDF–694K

Select item 110877203.

DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants

Liselot van der Laan, Peter Lauffer, Kathleen Rooney, Ananília Silva, Sadegheh Haghshenas, Raissa Relator, Michael A. Levy, Slavica Trajkova, Sylvia A. Huisman, Emilia K. Bijlsma, Tjitske Kleefstra, Bregje W. van Bon, Özlem Baysal, Christiane Zweier, María Palomares-Bralo, Jan Fischer, Katalin Szakszon, Laurence Faivre, Amélie Piton, Simone Mesman, Ron Hochstenbach, Mariet W. Elting, Johanna M. van Hagen, Astrid S. Plomp, Marcel M.A.M. Mannens, Mariëlle Alders, Mieke M. van Haelst, Giovanni B. Ferrero, Alfredo Brusco, Peter Henneman, David A. Sweetser, Bekim Sadikovic, Antonio Vitobello, Leonie A. Menke

HGG Adv. 2024 Jul 18; 5(3): 100289. Published online 2024 Apr 2. doi: 10.1016/j.xhgg.2024.100289

PMCID:: PMC11087720

Abstract Article PDF–5.1M

Select item 110695214.

Transcription factor 4 promotes increased corneal endothelial cellular migration by altering microtubules in Fuchs endothelial corneal dystrophy

Judy Yan, Shanti Mehta, Keya Patel, Narisa Dhupar, Ness Little, Stephan Ong Tone

Sci Rep. 2024; 14: 10276. Published online 2024 May 4. doi: 10.1038/s41598-024-61170-8

PMCID:: PMC11069521

Abstract Article PDF–4.4M

Select item 102047765.

The TCF4 Trinucleotide Repeat Expansion of Fuchs’ Endothelial Corneal Dystrophy: Implications for the Anterior Segment of the Eye

Jiaxin Hu, Xin Gong, Samantha T. Johnson, David R. Corey, V. Vinod Mootha

Invest Ophthalmol Vis Sci. 2023 May; 64(5): 16. Published online 2023 May 19. doi: 10.1167/iovs.64.5.16

PMCID:: PMC10204776

Abstract Article PDF–7.8M

Select item 101085666.

The recurrent TCF4 missense variant p.(Arg389Cys) causes a neurodevelopmental disorder overlapping with but not typical for Pitt‐Hopkins syndrome

Bernt Popp, Thierry Bienvenu, Irina Giurgea, Julia Metreau, Cornelia Kraus, André Reis, Jan Fischer, María Palomares Bralo, Jair Tenorio‐Castaño, Pablo Lapunzina, Berta Almoguera, Fermina Lopez‐Grondona, Heinrich Sticht, Christiane Zweier

Clin Genet. 2022 Dec; 102(6): 517–523. Published online 2022 Aug 16. doi: 10.1111/cge.14206

PMCID:: PMC10108566

Abstract Article PDF–3.3M

Select item 90617767.

Transcription Factor 4 loss-of-function is associated with deficits in progenitor proliferation and cortical neuron content

Fabio Papes, Antonio P. Camargo, Janaina S. de Souza, Vinicius M. A. Carvalho, Ryan A. Szeto, Erin LaMontagne, José R. Teixeira, Simoni H. Avansini, Sandra M. Sánchez-Sánchez, Thiago S. Nakahara, Carolina N. Santo, Wei Wu, Hang Yao, Barbara M. P. Araújo, Paulo E. N. F. Velho, Gabriel G. Haddad, Alysson R. Muotri

Nat Commun. 2022; 13: 2387. Published online 2022 May 2. doi: 10.1038/s41467-022-29942-w

PMCID:: PMC9061776

Abstract Article PDF–11M

Select item 87021168.

Lower Fractions of TCF4 Transcripts Spanning over the CTG18.1 Trinucleotide Repeat in Human Corneal Endothelium

Ida Maria Westin, Andreas Viberg, Berit Byström, Irina Golovleva

Genes (Basel) 2021 Dec; 12(12): 2006. Published online 2021 Dec 17. doi: 10.3390/genes12122006

PMCID:: PMC8702116

Abstract Article PDF–1.2M

Select item 86388739.

Comparison of TCF4 repeat expansion length in corneal endothelium and leukocytes of patients with Fuchs endothelial corneal dystrophy

Eric D. Wieben, Ross A. Aleff, Tommy A. Rinkoski, Keith H. Baratz, Shubham Basu, Sanjay V. Patel, Leo J. Maguire, Michael P. Fautsch

PLoS One. 2021; 16(12): e0260837. Published online 2021 Dec 2. doi: 10.1371/journal.pone.0260837

PMCID:: PMC8638873

Abstract Article PDF–2.1M

Select item 847896010.

Relationship of Body Mass Index with Fuchs’ Endothelial Corneal Dystrophy Severity and TCF4 CTG18.1 Trinucleotide Repeat Expansion

Bhumi B. Kinariwala, Timothy T. Xu, Keith H. Baratz, Ross A. Aleff, Sanjay V. Patel, Leo J. Maguire, Michael P. Fautsch, Eric D. Wieben, Amy E. Millen, Sangita P. Patel

Cornea. Author manuscript; available in PMC 2022 Dec 1.

Published in final edited form as: Cornea. 2021 Dec 1; 40(12): 1567–1570. doi: 10.1097/ICO.0000000000002689

PMCID:: PMC8478960

Abstract Article PDF–72K

Select item 844035511.

Molecular and Cellular Function of TCF4 in Pitt-Hopkins Syndrome

Huei-Ying Chen, Joseph F. Bohlen, Brady J. Maher

Dev Neurosci. Author manuscript; available in PMC 2022 Jun 16.

Published in final edited form as: Dev Neurosci. 2021; 43(3-4): 159–167. Published online 2021 Jun 16. doi: 10.1159/000516666

PMCID:: PMC8440355

Abstract Article PDF–511K

Select item 802660512.

Genetic variant rs613872 in transcription factor 4 (TCF4) is not associated with primary open-angle glaucoma

Altaf A. Kondkar, Taif A. Azad, Tahira Sultan, Essam A. Osman, Faisal A. Almobarak, Saleh A. Al-Obeidan

Eye (Lond) 2021 Feb; 35(2): 696–697. Published online 2020 Apr 30. doi: 10.1038/s41433-020-0924-y

PMCID:: PMC8026605

Article PDF–352K

Select item 798846413.

TCF4-mediated Fuchs endothelial corneal dystrophy: Insights into a common trinucleotide repeat-associated disease

Michael P. Fautsch, Eric D. Wieben, Keith H. Baratz, Nihar Bhattacharyya, Amanda N. Sadan, Nathaniel J. Hafford-Tear, Stephen J. Tuft, Alice E. Davidson

Prog Retin Eye Res. 2021 Mar; 81: 100883. doi: 10.1016/j.preteyeres.2020.100883

PMCID:: PMC7988464

Abstract Article

Select item 779103414.

Transcription factor 4 and its association with psychiatric disorders

José R. Teixeira, Ryan A. Szeto, Vinicius M. A. Carvalho, Alysson R. Muotri, Fabio Papes

Transl Psychiatry. 2021; 11: 19. Published online 2021 Jan 5. doi: 10.1038/s41398-020-01138-0

PMCID:: PMC7791034

Abstract Article PDF–747K

Select item 759520815.

The Fuchs corneal dystrophy-associated CTG repeat expansion in the TCF4 gene affects transcription from its alternative promoters

Alex Sirp, Kristian Leite, Jürgen Tuvikene, Kaja Nurm, Mari Sepp, Tõnis Timmusk

Sci Rep. 2020; 10: 18424. Published online 2020 Oct 28. doi: 10.1038/s41598-020-75437-3

PMCID:: PMC7595208

Abstract Article PDF–1.2M

Select item 734926216.

Pitt-Hopkins Syndrome: Clinical and Molecular Findings of a 5-Year-Old Patient

Florin Tripon, Alina Bogliș, Cristian Micheu, Ioana Streață, Claudia Bănescu

Genes (Basel) 2020 Jun; 11(6): 596. Published online 2020 May 28. doi: 10.3390/genes11060596

PMCID:: PMC7349262

Abstract Article PDF–1.4M

Select item 733796417.

Analyzing pre-symptomatic tissue to gain insights into the molecular and mechanistic origins of late-onset degenerative trinucleotide repeat disease

Yongjun Chu, Jiaxin Hu, Hanquan Liang, Mohammed Kanchwala, Chao Xing, Walter Beebe, C Bradley Bowman, Xin Gong, David R Corey, V Vinod Mootha

Nucleic Acids Res. 2020 Jul 9; 48(12): 6740–6758. Published online 2020 May 28. doi: 10.1093/nar/gkaa422

PMCID:: PMC7337964

Abstract Article PDF–13M

Select item 718256018.

Trinucleotide repeat expansion in the transcription factor 4 (TCF4) gene in Thai patients with Fuchs endothelial corneal dystrophy

Naoki Okumura, Vilavun Puangsricharern, Raina Jindasak, Noriko Koizumi, Yuya Komori, Hayashi Ryousuke, Makiko Nakahara, Masakazu Nakano, Hiroko Adachi, Kei Tashiro, Kengo Yoshii, Patchima Chantaren, Rungnapa Ittiwut, Vorasuk Shotelersuk, Kanya Suphapeetiporn

Eye (Lond) 2020 May; 34(5): 880–885. Published online 2019 Sep 25. doi: 10.1038/s41433-019-0595-8

PMCID:: PMC7182560

Abstract Article PDF–441K

Select item 711514919.

Association between a TCF4 Polymorphism and Susceptibility to Schizophrenia

Jia-Yang Gao, Pan Ma, Ying Li, Chun-Xia Yan, Qian Zhang, Xi-Xi Yang, Qiang Shi, Bao Zhang, Xiao-Peng Wen

Biomed Res Int. 2020; 2020: 1216303. Published online 2020 Mar 20. doi: 10.1155/2020/1216303

PMCID:: PMC7115149

Abstract Article PDF–418K

Select item 707732120.

Regulation of Transcription Factor E2-2 in Human Plasmacytoid Dendritic Cells by Monocyte-Derived TNFα

Hannah K. Dewald, Harry J. Hurley, Patricia Fitzgerald-Bocarsly

Viruses. 2020 Feb; 12(2): 162. Published online 2020 Jan 31. doi: 10.3390/v12020162

PMCID:: PMC7077321

Abstract Article PDF–3.0M

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