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Select item 115562331.

Comparison of Genetic, Auditory Features, and Systemic Clinical Phenotype in 14 Families with Syndromic Hearing Loss

Zhoushu Zheng, Lulu Yan, Lu Ding, Yinghui Zhang, Meihong Wang, Yihui Yang, Junhua Wu, Changshui Chen, Ming Tang, Haibo Li

Appl Clin Genet. 2024; 17: 171–186. Published online 2024 Nov 8. doi: 10.2147/TACG.S472898

PMCID:: PMC11556233

Abstract Article PDF–4.2M

Select item 111579472.

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 111438743.

Epilepsy and overgrowth–intellectual disability syndromes: a patient organization perspective on collaborating to accelerate pathways to treatment

Kerry Grens, Kit M. Church, Eric Diehl, Senyene E. Hunter, Katrina Tatton-Brown, Jill Kiernan, Christal G. Delagrammatikas

Ther Adv Rare Dis. 2024 Jan-Dec; 5: 26330040241254123. Published online 2024 May 31. doi: 10.1177/26330040241254123

PMCID:: PMC11143874

Abstract Article PDF–853K

Select item 111308374.

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 110573375.

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 110322526.

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 108393537.

Development of a mouse embryonic stem cell model for investigating the functions of the linker histone H1‐4

Abed Alkarem Abu Alhaija, Imtiaz Nisar Lone, Esin Ozkuru Sekeroglu, Tugce Batur, Dimitar Angelov, Stefan Dimitrov, Ali Hamiche, Elif Nur Firat Karalar, Muhammed Erdem Ercan, Tamer Yagci, Hani Alotaibi, Muhammed Kasim Diril

FEBS Open Bio. 2024 Feb; 14(2): 309–321. Published online 2024 Jan 11. doi: 10.1002/2211-5463.13750

PMCID:: PMC10839353

Abstract Article PDF–1.6M

Select item 107245158.

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 106504079.

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 1024840610.

A novel pathogenic variant of DNMT3A associated with craniosynostosis: a case report of Heyn–Sproul–Jackson syndrome

Ga Hye Kim, Jaewon Kim, Jaewoong Lee, Dae-Hyun Jang

Front Pediatr. 2023; 11: 1165638. Published online 2023 May 25. doi: 10.3389/fped.2023.1165638

PMCID:: PMC10248406

Abstract Article PDF–3.0M

Select item 1018254811.

Acute traumatic coma awakening by right median nerve electrical stimulation: a randomised controlled trial

Xiang Wu, Li Xie, Jin Lei, Jiemin Yao, Jiarong Li, Lixin Ruan, Jun Hong, Guodong Zheng, Yangyu Cheng, Liansheng Long, Jiancun Wang, Chuanping Huang, Qiuyou Xie, Xuelei Zhang, Jianghong He, Xuebin Yu, Shouhua Lv, Zhaosheng Sun, Dai Liu, Xin Li, Jianxin Zhu, Xiaoliang Yang, Dongdong Wang, Yijun Bao, Andrew I. R. Maas, David Menon, Yajun Xue, Jiyao Jiang, Junfeng Feng, Guoyi Gao, on behalf of the ACES Participants

Intensive Care Med. 2023; 49(6): 633–644. Published online 2023 May 13. doi: 10.1007/s00134-023-07072-1

PMCID:: PMC10182548

Abstract Article PDF–1.3M

Select item 1014135612.

Implementation and Delivery of Oral Cholera Vaccination Campaigns in Humanitarian Crisis Settings among Rohingya Myanmar nationals in Cox’s Bazar, Bangladesh

Ashraful Islam Khan, Md Taufiqul Islam, Zahid Hasan Khan, Nabid Anjum Tanvir, Mohammad Ashraful Amin, Ishtiakul Islam Khan, Abu Toha M. R. H. Bhuiyan, A. S. M. Mainul Hasan, Muhammad Shariful Islam, Tajul Islam Abdul Bari, Aninda Rahman, Md. Nazmul Islam, Firdausi Qadri

Vaccines (Basel) 2023 Apr; 11(4): 843. Published online 2023 Apr 14. doi: 10.3390/vaccines11040843

PMCID:: PMC10141356

Abstract Article PDF–579K

Select item 1009109613.

Oxytocin mediated excitation of hypoglossal motoneurons: implications for treating obstructive sleep apnea

Olga Dergacheva, Vsevolod Y Polotsky, David Mendelowitz

Sleep. 2023 Apr; 46(4): zsad009. Published online 2023 Feb 27. doi: 10.1093/sleep/zsad009

PMCID:: PMC10091096

Abstract Article PDF–37M

Select item 998063714.

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 986068915.

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 978353216.

Nomogram for Early Prediction of Outcome in Coma Patients with Severe Traumatic Brain Injury Receiving Right Median Nerve Electrical Stimulation Treatment

Chao Zhang, Wen-Dong You, Xu-Xu Xu, Qian Zhou, Xiao-Feng Yang

J Clin Med. 2022 Dec; 11(24): 7529. Published online 2022 Dec 19. doi: 10.3390/jcm11247529

PMCID:: PMC9783532

Abstract Article PDF–1.2M

Select item 938207817.

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 927122318.

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

Select item 917553919.

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 915089020.

Constitutive loss of DNMT3A causes morbid obesity through misregulation of adipogenesis

Ayala Tovy, Jaime M Reyes, Linda Zhang, Yung-Hsin Huang, Carina Rosas, Alexes C Daquinag, Anna Guzman, Raghav Ramabadran, Chun-Wei Chen, Tianpeng Gu, Sinjini Gupta, Laura Ortinau, Dongsu Park, Aaron R Cox, Rachel E Rau, Sean M Hartig, Mikhail G Kolonin, Margaret A Goodell

eLife. 2022; 11: e72359. Published online 2022 May 30. doi: 10.7554/eLife.72359

PMCID:: PMC9150890

Abstract Article PDF–6.0M

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