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Select item 111579471.

Aortic disease and cardiomyopathy in patients with a novel DNMT3A gene variant causing Tatton-Brown–Rahman syndrome

Dovile Zebrauskiene, Egle Sadauskiene, Justas Dapkunas, Visvaldas Kairys, Joris Balciunas, Aleksandras Konovalovas, Ruta Masiuliene, Gunda Petraityte, Nomeda Valeviciene, Mindaugas Mataciunas, Jurate Barysiene, Violeta Mikstiene, Migle Tomkuviene, Egle Preiksaitiene

Clin Epigenetics. 2024; 16: 76. Published online 2024 Jun 6. doi: 10.1186/s13148-024-01686-y

PMCID:: PMC11157947

Abstract Article PDF–5.2M

Select item 111308372.

Clinical Case of Mild Tatton–Brown–Rahman Syndrome Caused by a Nonsense Variant in DNMT3A Gene

Fatima Bostanova, Olga Levchenko, Margarita Sharova, Natalia Semenova

Clin Pract. 2024 Jun; 14(3): 928–933. Published online 2024 May 21. doi: 10.3390/clinpract14030073

PMCID:: PMC11130837

Abstract Article PDF–824K

Select item 93820783.

Case Report: The success of face analysis technology in extremely rare genetic diseases in Korea: Tatton–Brown–Rahman syndrome and Say–Barber –Biesecker–Young–Simpson variant of ohdo syndrome

Sunha Park, Jaewon Kim, Tae-Young Song, Dae-Hyun Jang

Front Genet. 2022; 13: 903199. Published online 2022 Aug 3. doi: 10.3389/fgene.2022.903199

PMCID:: PMC9382078

Abstract Article PDF–1.6M

Select item 91755394.

Aortic Root Dilatation and Dilated Cardiomyopathy in an Adult with Tatton-Brown-Rahman Syndrome

Alana C. Cecchi, Amier Haidar, Isabella Marin, Callie S. Kwartler, Siddharth K. Prakash, Dianna M. Milewicz

Am J Med Genet A. Author manuscript; available in PMC 2023 Feb 1.

Published in final edited form as: Am J Med Genet A. 2022 Feb; 188(2): 628–634. Published online 2021 Oct 13. doi: 10.1002/ajmg.a.62541

PMCID:: PMC9175539

Abstract Article PDF–632K

Select item 89688785.

Perturbed hematopoiesis in individuals with germline DNMT3A overgrowth Tatton-Brown-Rahman syndrome

Ayala Tovy, Carina Rosas, Amos S. Gaikwad, Geraldo Medrano, Linda Zhang, Jaime M. Reyes, Yung-Hsin Huang, Tatsuhiko Arakawa, Kristen Kurtz, Shannon E. Conneely, Anna G. Guzman, Rogelio Aguilar, Anne Gao, Chun-Wei Chen, Jean J. Kim, Melissa T. Carter, Amaia Lasa-Aranzasti, Irene Valenzuela, Lionel Van Maldergem, Lorenzo Brunetti, M. John Hicks, Andrea N. Marcogliese, Margaret A. Goodell, Rachel E. Rau

Haematologica. 2022 Apr 1; 107(4): 887–898. Published online 2021 Jun 3. doi: 10.3324/haematol.2021.278990

PMCID:: PMC8968878

Abstract Article PDF–1.5M

Select item 89229696.

Expanding the mutational spectrum of Rahman syndrome: A rare disorder with severe intellectual disability and particular facial features in two Chinese patients

Jianbo Zhao, Guizhen Lyu, Changhong Ding, Xiaohui Wang, Jiuwei Li, Weihua Zhang, Xinying Yang, Victor Wei Zhang

Mol Genet Genomic Med. 2022 Mar; 10(3): e1825. Published online 2022 Feb 14. doi: 10.1002/mgg3.1825

PMCID:: PMC8922969

Abstract Article PDF–1.0M

Select item 88222597.

Exome sequencing identified a novel HIST1H1E heterozygous protein‐truncating variant in a 6‐month‐old male patient with Rahman syndrome: A case report

Subba Rao Indugula, Sofia Saenz Ayala, Francesco Vetrini, Alyce Belonis, Wenying Zhang

Clin Case Rep. 2022 Feb; 10(2): e05370. Published online 2022 Feb 7. doi: 10.1002/ccr3.5370

PMCID:: PMC8822259

Abstract Article PDF–628K

Select item 85501598.

Case Report: Bilateral Epiphysiodesis Due to Extreme Tall Stature in a Girl With a De Novo DNMT3A Variant Associated With Tatton-Brown-Rahman Syndrome

Otto Lennartsson, Maria Lodefalk, Henrik Wehtje, Eva-Lena Stattin, Lars Sävendahl, Ola Nilsson

Front Endocrinol (Lausanne) 2021; 12: 752756. Published online 2021 Oct 13. doi: 10.3389/fendo.2021.752756

PMCID:: PMC8550159

Abstract Article PDF–3.8M

Select item 75689969.

陈旻, 李思涛, 蔡尧, 肖昕, 石聪聪, 郝虎

Zhongguo Dang Dai Er Ke Za Zhi. 2020 Oct 15; 22(10): 1114–1118. Chinese. doi: 10.7499/j.issn.1008-8830.2004078

PMCID:: PMC7568996

Abstract Article PDF–1.4M

Select item 723523910.

Tatton-Brown-Rahman syndrome with a novel DNMT3A mutation presented severe intellectual disability and autism spectrum disorder

Takayuki Yokoi, Yumi Enomoto, Takuya Naruto, Kenji Kurosawa, Norimichi Higurashi

Hum Genome Var. 2020; 7: 15. Published online 2020 May 18. doi: 10.1038/s41439-020-0102-6

PMCID:: PMC7235239

Abstract Article PDF–511K

Select item 708072811.

Further delineation of neuropsychiatric findings in Tatton-Brown-Rahman syndrome due to disease-causing variants in DNMT3A: seven new patients

Jair Tenorio, Pablo Alarcón, Pedro Arias, Irene Dapía, Sixto García-Miñaur, María Palomares Bralo, Jaume Campistol, Salvador Climent, Irene Valenzuela, Sergio Ramos, Antonio Martínez Monseny, Fermina López Grondona, Javier Botet, Mercedes Serrano, Mario Solís, Fernando Santos-Simarro, Sara Álvarez, Gisela Teixidó-Tura, Alberto Fernández Jaén, Gema Gordo, María Belén Bardón Rivera, Julián Nevado, Alicia Hernández, Juan C. Cigudosa, Víctor L. Ruiz-Pérez, Eduardo F. Tizzano, The SOGRI Consortium, Pablo Lapunzina

Eur J Hum Genet. 2020 Apr; 28(4): 469–479. Published online 2019 Nov 4. doi: 10.1038/s41431-019-0485-3

PMCID:: PMC7080728

Abstract Article PDF–972K

Select item 694486212.

First identified Korean family with Tatton-Brown-Rahman Syndrome caused by the novel DNMT3A variant c.118G>C p.(Glu40Gln)

Cha Gon Lee, Ja-Hyun Jang, Ji-Young Seo

Ann Pediatr Endocrinol Metab. 2019 Dec; 24(4): 253–256. Published online 2019 Dec 31. doi: 10.6065/apem.2019.24.4.253

PMCID:: PMC6944862

Abstract Article PDF–306K

Select item 596462813.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants

Katrina Tatton-Brown, Anna Zachariou, Chey Loveday, Anthony Renwick, Shazia Mahamdallie, Lise Aksglaede, Diana Baralle, Daniela Barge-Schaapveld, Moira Blyth, Mieke Bouma, Jeroen Breckpot, Beau Crabb, Tabib Dabir, Valerie Cormier-Daire, Christine Fauth, Richard Fisher, Blanca Gener, David Goudie, Tessa Homfray, Matthew Hunter, Agnete Jorgensen, Sarina G. Kant, Cathy Kirally-Borri, David Koolen, Ajith Kumar, Anatalia Labilloy, Melissa Lees, Carlo Marcelis, Catherine Mercer, Cyril Mignot, Kathryn Miller, Katherine Neas, Ruth Newbury-Ecob, Daniela T. Pilz, Renata Posmyk, Carlos Prada, Keri Ramsey, Linda M. Randolph, Angelo Selicorni, Deborah Shears, Mohnish Suri, I. Karen Temple, Peter Turnpenny, Lionel Van Maldergem, Vinod Varghese, Hermine E. Veenstra-Knol, Naomi Yachelevich, Laura Yates, Clinical Assessment of the Utility of Sequencing and Evaluation as a Service (CAUSES) Research Study, Deciphering Developmental Disorders (DDD) Study, Nazneen Rahman

Version 1. Wellcome Open Res. 2018; 3: 46. Published online 2018 Apr 23. doi: 10.12688/wellcomeopenres.14430.1

PMCID:: PMC5964628

Abstract Article PDF–3.1M

Select item 1105733714.

Skeletal abnormalities in mice with Dnmt3a missense mutations

Austin Bell-Hensley, Diana C. Beard, Kathryn Feeney, Hongjun Zheng, Yunhao Jiang, Xiyun Zhang, Jin Liu, Harrison Gabel, Audrey McAlinden

Bone. Author manuscript; available in PMC 2024 Jun 1.

Published in final edited form as: Bone. 2024 Jun; 183: 117085. Published online 2024 Mar 23. doi: 10.1016/j.bone.2024.117085

PMCID:: PMC11057337

Abstract Article PDF–2.9M

Select item 1103225215.

Epigenetic Causes of Overgrowth Syndromes

Julian C Lui, Jeffrey Baron

J Clin Endocrinol Metab. 2024 Feb; 109(2): 312–320. Published online 2023 Jul 14. doi: 10.1210/clinem/dgad420

PMCID:: PMC11032252

Abstract Article

Select item 1072451516.

A case report of a novel HIST1H1E mutation and a review of the bibliography to evaluate the genotype–phenotype correlations

Wenjing Zhao, Yinhong Zhang, Tao Lv, Jing He, Baosheng Zhu

Mol Genet Genomic Med. 2023 Dec; 11(12): e2273. Published online 2023 Aug 21. doi: 10.1002/mgg3.2273

PMCID:: PMC10724515

Abstract Article PDF–2.0M

Select item 1065040717.

The Role of Clonal Hematopoiesis of Indeterminant Potential and DNA (Cytosine-5)-Methyltransferase Dysregulation in Pulmonary Arterial Hypertension and Other Cardiovascular Diseases

Isaac M. Emon, Ruaa Al-Qazazi, Michael J. Rauh, Stephen L. Archer

Cells. 2023 Nov; 12(21): 2528. Published online 2023 Oct 26. doi: 10.3390/cells12212528

PMCID:: PMC10650407

Abstract Article PDF–3.1M

Select item 998063718.

Mitophagy initiates retrograde mitochondrial-nuclear signaling to guide retinal pigment cell heterogeneity

Sayantan Datta, Marisol Cano, Ganesh Satyanarayana, Tongyun Liu, Lei Wang, Jie Wang, Jie Cheng, Kie Itoh, Anjali Sharma, Imran Bhutto, Rangaramanujam Kannan, Jiang Qian, Debasish Sinha, James T. Handa

Autophagy. 2023; 19(3): 966–983. Published online 2022 Aug 13. doi: 10.1080/15548627.2022.2109286

PMCID:: PMC9980637

Abstract Article PDF–7.4M

Select item 986068919.

Post-Translation Modifications and Mutations of Human Linker Histone Subtypes: Their Manifestation in Disease

Ashok Kumar, Preeti Maurya, Jeffrey J. Hayes

Int J Mol Sci. 2023 Jan; 24(2): 1463. Published online 2023 Jan 11. doi: 10.3390/ijms24021463

PMCID:: PMC9860689

Abstract Article PDF–1.2M

Select item 927122320.

Mutations of the histone linker H1–4 in neurodevelopmental disorders and functional characterization of neurons expressing C-terminus frameshift mutant H1.4

Martine W Tremblay, Matthew V Green, Benjamin M Goldstein, Andrew I Aldridge, Jill A Rosenfeld, Haley Streff, Wendy D Tan, William Craigen, Nasim Bekheirnia, Saeed Al Tala, Anne E West, Yong-hui Jiang

Hum Mol Genet. 2022 May 1; 31(9): 1430–1442. Published online 2021 Nov 12. doi: 10.1093/hmg/ddab321

PMCID:: PMC9271223

Abstract Article PDF–1.8M

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