PMC Articles for MedGen (Select 1794253) - PMC

Tomoya Kubota, Miho Nagata, Kazuko Takagi, Yasuki Ishihara, Kurumi Kojima, Yuka Uchikura, Reina Yamamoto, Ayumi Yonei, Erina Ozaki, Natsuki Kira, Satoe Takahashi, Kazuaki Homma, Yohei Miyashita, Minenori Eguchi-Ishimae, Norio Sakai, Yohihiro Asano, Yasushi Sakata, Keiichi Ozono, Mariko Eguchi, Masanori P. Takahashi

J Hum Genet. 2025; 70(1): 3–8. Published online 2024 Aug 21. doi: 10.1038/s10038-024-01284-z

PMCID:: PMC11700836

Abstract Article PDF–783K

Select item 116997795.

A rare case of adult-onset vanishing white matter leukoencephalopathy with movement disorder, expressing homozygous EIF2B3 and PRKN pathogenic variants

Bashar Kamal Ali Douden, Yazan Mohammad Abdullah Abufara, Mahmood Fayez Ali Aldrabeeh, Naela Ramadan Mohammad Tell, Ismail Abudaya

BMC Neurol. 2025; 25: 7. Published online 2025 Jan 4. doi: 10.1186/s12883-024-04018-y

PMCID:: PMC11699779

Abstract Article PDF–956K

Select item 116994536.

Bobbi McGivern, Michelle M. Morrow, Erin Torti, Kirsty McWalter, Ingrid M. Wentzensen, Kristin G. Monaghan, Amanda Gerard, Laurie Robak, David Chitayat, Claire Botsford, Sarah Jurgensmeyer, Peter Leahy, Paul Kruszka

HGG Adv. 2025 Jan 9; 6(1): 100387. Published online 2024 Nov 26. doi: 10.1016/j.xhgg.2024.100387

PMCID:: PMC11699453

Abstract Article PDF–2.0M

Select item 116975017.

Optical coherence tomography (OCT) and OCT-angiography in syndromic versus non-syndromic USH2A-associated retinopathy

Alessio Antropoli, Alessandro Arrigo, Carlo Caprara, Lorenzo Bianco, Stefano Mercuri, Alessandro Berni, Ilaria Passerini, Sofia Gambarotta, Andrea Sodi, Francesco Bandello, Vittoria Murro, Maurizio Battaglia Parodi

Eur J Ophthalmol. 2025 Jan; 35(1): 106–111. Published online 2024 Apr 11. doi: 10.1177/11206721241247421

PMCID:: PMC11697501

Abstract Article PDF–589K

Select item 116797378.

Unveiling Secondary Mutations in Blended Phenotypes: Dual ERCC4 and OTOA Pathogenic Variants Through WES Analysis

Pinella Failla, Lucia Saccuzzo, Ornella Galesi, Donatella Greco, Vincenza Barresi, Silvestra Amata, Corrado Romano, Marco Fichera

Int J Mol Sci. 2024 Dec; 25(24): 13471. Published online 2024 Dec 16. doi: 10.3390/ijms252413471

PMCID:: PMC11679737

Abstract Article PDF–6.5M

Select item 116754019.

Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype–Phenotype Correlations

Julia Grzybowska-Adamowicz, Karolina Gadzalska, Paulina Jakiel, Ewa Juścińska, Monika Gorządek, Sebastian Skoczylas, Tomasz Płoszaj, Przemysława Jarosz-Chobot, Irina Kowalska, Małgorzata Myśliwiec, Agnieszka Szadkowska, Agnieszka Zmysłowska

Genes (Basel) 2024 Dec; 15(12): 1592. Published online 2024 Dec 12. doi: 10.3390/genes15121592

PMCID:: PMC11675401

Abstract Article PDF–794K

Select item 1167289110.

Diagnosis and Management of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome

Ji-Hoon Na, Young-Mock Lee

Biomolecules. 2024 Dec; 14(12): 1524. Published online 2024 Nov 28. doi: 10.3390/biom14121524

PMCID:: PMC11672891

Abstract Article PDF–1012K

Select item 1166852511.

CaBP1 and 2 enable sustained Ca_V1.3 calcium currents and synaptic transmission in inner hair cells

David Oestreicher, Shashank Chepurwar, Kathrin Kusch, Vladan Rankovic, Sangyong Jung, Nicola Strenzke, Tina Pangrsic

eLife. 2024; 13: RP93646. Published online 2024 Dec 24. doi: 10.7554/eLife.93646

PMCID:: PMC11668525

Abstract Article PDF–4.5M

Select item 1166835912.

Atypical white-matter microstructure in congenitally deaf adults: A region of interest and tractography study using diffusion-tensor imaging

Christina M. Karns, Courtney Stevens, Mark W. Dow, Emily Schorr, Helen J. Neville

Hear Res. Author manuscript; available in PMC 2024 Dec 24.

Published in final edited form as: Hear Res. 2017 Jan; 343: 72–82. Published online 2016 Jul 26. doi: 10.1016/j.heares.2016.07.008

PMCID:: PMC11668359

Abstract Article PDF–1.3M

Select item 1166802313.

Liver transplantation in a boy with TFAM mutation associated mtDNA depletion syndrome

Jing Zhao, Lian Chen, Ni Wang, Xin-bao Xie

Orphanet J Rare Dis. 2024; 19: 486. Published online 2024 Dec 23. doi: 10.1186/s13023-024-03487-1

PMCID:: PMC11668023

Abstract Article PDF–904K

Select item 1166319014.

A WFS1 variant disrupting acceptor splice site uncovers the impact of alternative splicing on beta cell apoptosis in a patient with Wolfram syndrome

Raniero Chimienti, Silvia Torchio, Gabriel Siracusano, Valentina Zamarian, Laura Monaco, Marta Tiffany Lombardo, Silvia Pellegrini, Fabio Manenti, Federica Cuozzo, Greta Rossi, Paola Carrera, Valeria Sordi, Vania Broccoli, Riccardo Bonfanti, Giorgio Casari, Giulio Frontino, Lorenzo Piemonti

Diabetologia. 2025; 68(1): 128–151. Published online 2024 Nov 9. doi: 10.1007/s00125-024-06307-0

PMCID:: PMC11663190

Abstract Article PDF–7.7M

Select item 1165763115.

THBS1 is a new autosomal recessive non-syndromic hearing impairment gene

Thashi Bharadwaj, Anushree Acharya, Fati Ullah Khan, Saadullah Khan, Irfan Ullah, Isabelle Schrauwen, Wasim Ahmad, Suzanne M. Leal

BMC Med Genomics. 2024; 17: 291. Published online 2024 Dec 18. doi: 10.1186/s12920-024-02060-w

PMCID:: PMC11657631

Abstract Article PDF–2.0M

Select item 1164813116.

Optic disc changes in Chinese patients with NLRP3-associated autoinflammatory disease

Yuezhu Lu, Min Shen, Zhikun Yang, Xiao Zhang, Donghui Li, Zhangwanyu Wei, Bing Li, Xufeng Zhao, Na Wu, Bingxuan Wu, Weihong Yu, Yong Zhong

Ann Med. 2025; 57(1): 2438842. Published online 2024 Dec 13. doi: 10.1080/07853890.2024.2438842

PMCID:: PMC11648131

Abstract Article PDF–3.6M

Select item 1164146117.

Heterogeneous Group of Genetically Determined Auditory Neuropathy Spectrum Disorders

Anastasiia A. Buianova, Marina V. Bazanova, Vera A. Belova, Galit A. Ilyina, Alina F. Samitova, Anna O. Shmitko, Anna V. Balakina, Anna S. Pavlova, Oleg N. Suchalko, Dmitriy O. Korostin, Anton S. Machalov, Nikolai A. Daikhes, Denis V. Rebrikov

Int J Mol Sci. 2024 Dec; 25(23): 12554. Published online 2024 Nov 22. doi: 10.3390/ijms252312554

PMCID:: PMC11641461

Abstract Article PDF–2.3M

Select item 1164083018.

Molecular Characterization of Subdomain Specification of Cochlear Duct Based on Foxg1 and Gata3

Yongjin Gil, Jiho Ryu, Hayoung Yang, Yechan Ma, Ki-Hoan Nam, Sung-Wuk Jang, Sungbo Shim

Int J Mol Sci. 2024 Dec; 25(23): 12700. Published online 2024 Nov 26. doi: 10.3390/ijms252312700

PMCID:: PMC11640830

Abstract Article PDF–4.2M

Select item 1163888819.

SLC26A4-AP-2 mu2 interaction regulates SLC26A4 plasma membrane abundance in the endolymphatic sac

Hyun Jae Lee, Cristina Fenollar-Ferrer, Kevin Isgrig, Ya-Xian Wang, Kerstin Valente, Juleh Eide, Keiji Honda, Wade W. Chien, Ronald S. Petralia, Lijin Dong, Thomas B. Friedman, Juan S. Bonifacino, Andrew J. Griffith, Isabelle Roux

Sci Adv. 2024 Oct 11; 10(41): eadm8663. Published online 2024 Oct 9. doi: 10.1126/sciadv.adm8663

PMCID:: PMC11638888

Abstract Article PDF–9.2M

Select item 1163470320.

Upregulation of the Ca_v1.3 channel in inner hair cells by interleukin 6‐dependent inflammaging contributes to age‐related hearing loss

Mingshun Lu, Fuyu Xian, Xishuo Jin, Guodong Hong, Xiaolong Fu, Shengnan Wang, Xinyu Li, Haichao Yang, Hongchen Li, Haiwei Zhang, Yuxin Yang, Jundan Xiao, Hui Dong, Yaling Liu, Haitao Shen, Ping Lv

Aging Cell. 2024 Dec; 23(12): e14305. Published online 2024 Aug 15. doi: 10.1111/acel.14305