PMC Articles for MedGen (Select 21923) - PMC

Links from MedGen

Items: 1 to 20 of 234

<< First< Prev

Page of 12

Next >Last >>

Select item 106218811.

Wolfram Syndrome: A Curious Case of Repetitive Loss of Consciousness

Margarida M Carvalho, Rafael Jesus, Ana Mendes, Pedro Guimarães, Bebiana Conde

Cureus. 2023 Oct; 15(10): e46426. Published online 2023 Oct 3. doi: 10.7759/cureus.46426

PMCID:: PMC10621881

Article PubReader PDF–1.6M Cite

Select item 106115182.

Treatment with the dual-incretin agonist DA-CH5 demonstrates potent therapeutic effect in a rat model of Wolfram Syndrome

Toomas Jagomäe, Nayana Gaur, Kadri Seppa, Riin Reimets, Marko Pastak, Mihkel Plaas, Allen Kaasik, Eero Vasar, Mario Plaas

Front Endocrinol (Lausanne) 2023; 14: 1234925. Published online 2023 Oct 13. doi: 10.3389/fendo.2023.1234925

PMCID:: PMC10611518

Article PubReader PDF–15M Cite

Select item 105273793.

Genomics of Wolfram Syndrome 1 (WFS1)

Sulev Kõks

Biomolecules. 2023 Sep; 13(9): 1346. Published online 2023 Sep 4. doi: 10.3390/biom13091346

PMCID:: PMC10527379

Article PubReader PDF–924K Cite

Select item 105237504.

Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report

Maryem Sahli, Abdelali Zrhidri, Imad Boualaoui, Imane Cherkaoui Jaouad, Youssef El Kadiri, Yassine Nouini, Abdelaziz Sefiani

J Med Case Rep. 2023; 17: 409. Published online 2023 Sep 27. doi: 10.1186/s13256-023-04150-2

PMCID:: PMC10523750

Article PubReader PDF–1.2M Cite

Select item 105025855.

Variants of WFS1 identified by whole exome sequencing in a boy with Wolfram syndrome 1: A case report

Yong Tang, Xiaoshan Shao, Bei Ying, Jie Qiu, Shasha Zheng, Yuanhui Liu, Xiaochan Zhang, Yuhong Li

Biomed Rep. 2023 Oct; 19(4): 68. Published online 2023 Aug 23. doi: 10.3892/br.2023.1650

PMCID:: PMC10502585

Article PubReader PDF–382K Cite

Select item 104350296.

Wolfram Syndrome-2, a Cause of Severe Gastrointestinal Bleeding: A Case Series and a Literature Review

Rania Ateya, Thomas Ciecierega, Muttaz Abusamra, Motee Abuawwad, Abdulsalam Abu-Libdeh, Mutaz Sultan

JPGN Rep. 2023 Aug; 4(3): e339. Published online 2023 Jul 17. doi: 10.1097/PG9.0000000000000339

PMCID:: PMC10435029

Article PubReader PDF–458K Cite

Select item 104095357.

There’s More Than Meets the Eye: Wolfram Syndrome in a Type I Diabetic Patient

Jasvindar Kumar, Atif Ahmed, Mashal Khan, Yasir Ahmed

J Med Cases. 2023 Jul; 14(7): 265–269. Published online 2023 Jul 31. doi: 10.14740/jmc4128

PMCID:: PMC10409535

Article PubReader PDF–2.0M Cite

Select item 103826108.

Wolfram Syndrome 1 in Two Brothers Treated with Insulin Pump

Manuela Cardona, Alejandro Ardila, Juan D. Gómez, Alejandro Román-González

AACE Clin Case Rep. 2023 Jul-Aug; 9(4): 125–127. Published online 2023 May 6. doi: 10.1016/j.aace.2023.05.002

PMCID:: PMC10382610

Article PubReader PDF–248K Cite

Select item 103769789.

Neuro-Ophthalmologic Variability in Presentation of Genetically Confirmed Wolfram Syndrome: A Case Series and Review

Ruben Jauregui, Nicolas J. Abreu, Shani Golan, Joseph F. Panarelli, Meenakshi Sigireddi, Gopi K. Nayak, Doria M. Gold, Janet C. Rucker, Steven L. Galetta, Scott N. Grossman

Brain Sci. 2023 Jul; 13(7): 1030. Published online 2023 Jul 5. doi: 10.3390/brainsci13071030

PMCID:: PMC10376978

Article PubReader PDF–3.1M Cite

Select item 1034859110.

Wolfram syndrome 1 regulates sleep in dopamine receptor neurons by modulating calcium homeostasis

Huanfeng Hao, Li Song, Luoying Zhang

PLoS Genet. 2023 Jul; 19(7): e1010827. Published online 2023 Jul 3. doi: 10.1371/journal.pgen.1010827

PMCID:: PMC10348591

Article PubReader PDF–3.9M Cite

Select item 1034032811.

Neurosensory Affectation in Patients Affected by Wolfram Syndrome: Descriptive and Longitudinal Analysis

Gema Esteban-Bueno, Aída María Berenguel Hernández, Nicolás Fernández Fernández, Miguel Navarro Cabrero, Juan R. Coca

Healthcare (Basel) 2023 Jul; 11(13): 1888. Published online 2023 Jun 29. doi: 10.3390/healthcare11131888

PMCID:: PMC10340328

Article PubReader PDF–1.0M Cite

Select item 1032129712.

Genotype and clinical characteristics of patients with Wolfram syndrome and WFS1-related disorders

Evan M. Lee, Megha Verma, Nila Palaniappan, Emiko M. Pope, Sammie Lee, Lindsey Blacher, Pooja Neerumalla, William An, Toko Campbell, Cris Brown, Stacy Hurst, Bess Marshall, Tamara Hershey, Virginia Nunes, Miguel López de Heredia, Fumihiko Urano

Front Genet. 2023; 14: 1198171. Published online 2023 Jun 21. doi: 10.3389/fgene.2023.1198171

PMCID:: PMC10321297

Article PubReader PDF–1.8M Cite

Select item 1029467613.

Paediatric Wolfram syndrome Type 1: should gonadal dysfunction be part of the diagnostic criteria?

Giulio Frontino, Raffaella Di Tonno, Marianna Rita Stancampiano, Francesca Arrigoni, Andrea Rigamonti, Elisa Morotti, Daniele Canarutto, Riccardo Bonfanti, Gianni Russo, Graziano Barera, Lorenzo Piemonti

Front Endocrinol (Lausanne) 2023; 14: 1155644. Published online 2023 Jun 13. doi: 10.3389/fendo.2023.1155644

PMCID:: PMC10294676

Article PubReader PDF–921K Cite

Select item 1026228914.

Repetitive Suicidal Behaviors in a Case With a New Mutation of Wolfram Syndrome: A Jump From the Gene to the Behavior

Fatemeh Sadat Mirfazeli, Fatemeh Mohebi, Amin Jahanbakhshi, Omid Aryani, Mostafa Almasi-Dooghaee

Basic Clin Neurosci. 2022 Nov-Dec; 13(6): 893–900. Published online 2022 Nov 1. doi: 10.32598/bcn.2021.910.3

PMCID:: PMC10262289

Article PubReader PDF–1.4M Cite

Select item 1024429715.

GLP-1R agonists demonstrate potential to treat Wolfram syndrome in human preclinical models

Vyron Gorgogietas, Bahareh Rajaei, Chae Heeyoung, Bruno J. Santacreu, Sandra Marín-Cañas, Paraskevi Salpea, Toshiaki Sawatani, Anyishai Musuaya, María N. Arroyo, Cristina Moreno-Castro, Khadija Benabdallah, Celine Demarez, Sanna Toivonen, Cristina Cosentino, Nathalie Pachera, Maria Lytrivi, Ying Cai, Lode Carnel, Cris Brown, Fumihiko Urano, Piero Marchetti, Patrick Gilon, Decio L. Eizirik, Miriam Cnop, Mariana Igoillo-Esteve

Diabetologia. 2023; 66(7): 1306–1321. Published online 2023 Mar 30. doi: 10.1007/s00125-023-05905-8

PMCID:: PMC10244297

Article PubReader PDF–4.5M Cite

Select item 1020898316.

Modeling disrupted synapse formation in wolfram syndrome using hESCs-derived neural cells and cerebral organoids identifies Riluzole as a therapeutic molecule

Fei Yuan, Yana Li, Rui Hu, Mengting Gong, Mengyao Chai, Xuefei Ma, Jiaxue Cha, Pan Guo, Kaijiang Yang, Mushan Li, Minglu Xu, Qing Ma, Qiang Su, Chuan Zhang, Zhejin Sheng, Heng Wu, Yuan Wang, Wen Yuan, Shan Bian, Li Shao, Ru Zhang, Kaicheng Li, Zhen Shao, Zhen-Ning Zhang, Weida Li

Mol Psychiatry. 2023; 28(4): 1557–1570. Published online 2023 Feb 7. doi: 10.1038/s41380-023-01987-3

PMCID:: PMC10208983

Article PubReader PDF–7.4M Cite

Select item 1020269517.

Depletion of WFS1 compromises mitochondrial function in hiPSC-derived neuronal models of Wolfram syndrome

Malgorzata Zatyka, Tatiana R. Rosenstock, Congxin Sun, Adina M. Palhegyi, Georgina W. Hughes, Samuel Lara-Reyna, Dewi Astuti, Alessandro di Maio, Axel Sciauvaud, Miriam E. Korsgen, Vesna Stanulovic, Gamze Kocak, Malgorzata Rak, Sandra Pourtoy-Brasselet, Katherine Winter, Thiago Varga, Margot Jarrige, Hélène Polvèche, Joao Correia, Eva-Maria Frickel, Maarten Hoogenkamp, Douglas G. Ward, Laetitia Aubry, Timothy Barrett, Sovan Sarkar

Stem Cell Reports. 2023 May 9; 18(5): 1090–1106. Published online 2023 May 9. doi: 10.1016/j.stemcr.2023.04.002

PMCID:: PMC10202695

Article PubReader PDF–8.1M Cite

Select item 1013764118.

Chronic Stress Alters Hippocampal Renin-Angiotensin-Aldosterone System Component Expression in an Aged Rat Model of Wolfram Syndrome

Marite Punapart, Riin Reimets, Kadri Seppa, Silvia Kirillov, Nayana Gaur, Kattri-Liis Eskla, Toomas Jagomäe, Eero Vasar, Mario Plaas

Genes (Basel) 2023 Apr; 14(4): 827. Published online 2023 Mar 30. doi: 10.3390/genes14040827

PMCID:: PMC10137641

Article PubReader PDF–3.2M Cite

Select item 1005350119.

Evaluation of the Oral Bacterial Genome and Metabolites in Patients with Wolfram Syndrome

E. Zmysłowska-Polakowska, T. Płoszaj, S. Skoczylas, P. Mojsak, M. Ciborowski, A. Kretowski, M. Lukomska-Szymanska, A. Szadkowska, W. Mlynarski, A. Zmysłowska

Int J Mol Sci. 2023 Mar; 24(6): 5596. Published online 2023 Mar 15. doi: 10.3390/ijms24065596

PMCID:: PMC10053501

Article PubReader PDF–3.9M Cite

Select item 1003244620.

Wolfram syndrome: new pathophysiological insights and therapeutic strategies

Ratnakar Mishra, Benson S. Chen, Prachi Richa, Patrick Yu-Wai-Man

Ther Adv Rare Dis. 2021 Jan-Dec; 2: 26330040211039518. Published online 2021 Aug 16. doi: 10.1177/26330040211039518

PMCID:: PMC10032446

Article PubReader PDF–1.1M Cite

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 1 to 20 of 234

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity