U.S. flag

An official website of the United States government

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Links from MedGen

Items: 1 to 20 of 368

1.
Differentially expressed lncRNAs in liver tissues of TX mice with hepatolenticular degeneration
Juan Zhang, Ying Ma, Daojun Xie, Yuancheng Bao, Wenming Yang, Han Wang, Huaizhou Jiang, Hui Han, Ting Dong
Sci Rep. 2021; 11: 1377. Published online 2021 Jan 14. doi: 10.1038/s41598-020-80635-0
PMCID:
PMC7809420
ArticlePDF–2.3M
2.
A novel heterozygous carrier of ATP7B mutation with muscle weakness and tremor: A Chinese Case Report
Zhengxiang Zhang, Jiayi Liu, Wenjing Zheng, Qun Hou, Liping Zhang
J Musculoskelet Neuronal Interact. 2020; 20(4): 614–618.
PMCID:
PMC7716679
ArticlePDF–1.0M
3.
Genotype-phenotype variable correlation in Wilson disease: clinical history of two sisters with the similar genotype
Annamaria Sapuppo, Piero Pavone, Andrea Domenico Praticò, Martino Ruggieri, Gaetano Bertino, Agata Fiumara
BMC Med Genet. 2020; 21: 128. Published online 2020 Jun 12. doi: 10.1186/s12881-020-01062-6
PMCID:
PMC7291468
ArticlePDF–311K
4.
Currently Clinical Views on Genetics of Wilson's Disease
Chen Chen, Bo Shen, Jia-Jia Xiao, Rong Wu, Sarah Jane Duff Canning, Xiao-Ping Wang
Chin Med J (Engl) 2015 Jul 5; 128(13): 1826–1830. doi: 10.4103/0366-6999.159361
PMCID:
PMC4733722
ArticlePDF–316K
5.
Wilson’s Disease: A Comprehensive Review of the Molecular Mechanisms
Fei Wu, Jing Wang, Chunwen Pu, Liang Qiao, Chunmeng Jiang
Int J Mol Sci. 2015 Mar; 16(3): 6419–6431. Published online 2015 Mar 20. doi: 10.3390/ijms16036419
PMCID:
PMC4394540
ArticlePDF–1.4M
6.
Wilson's disease and other neurological copper disorders.
Oliver Bandmann, Karl Heinz Weiss, Stephen G. Kaler
Lancet Neurol. Author manuscript; available in PMC 2016 Jan 1.
Published in final edited form as: Lancet Neurol. 2015 Jan; 14(1): 103–113. doi: 10.1016/S1474-4422(14)70190-5
PMCID:
PMC4336199
ArticlePDF–662K
7.
An Update on Laboratory Diagnosis of Liver Inherited Diseases
Federica Zarrilli, Ausilia Elce, Manuela Scorza, Sonia Giordano, Felice Amato, Giuseppe Castaldo
Biomed Res Int. 2013; 2013: 697940. Published online 2013 Oct 8. doi: 10.1155/2013/697940
PMCID:
PMC3816025
ArticlePDF–532K
8.
Clinical copper metabolism parameters in patients with retinitis pigmentosa and other tapeto-retinal degenerations.
N Ehlers, N Bülow
Br J Ophthalmol. 1977 Sep; 61(9): 595–596. doi: 10.1136/bjo.61.9.595
PMCID:
PMC1043054
SummaryPage BrowsePDF–239K
9.
Distal renal tubular acidosis as presenting manifestation of Wilson disease in a 11-year-old girl
Paraselli Saiteja, Sriram Krishnamurthy, Bobbity Deepthi, Sudarsan Krishnasamy, Madhileti Sravani
CEN Case Rep. 2024 Apr; 13(2): 93–97. Published online 2023 Jul 6. doi: 10.1007/s13730-023-00806-6
PMCID:
PMC10982190
ArticlePDF–506K
10.
Identification of lncRNA-miRNA-mRNA Networks in the Lenticular Nucleus Region of the Brain Contributes to Hepatolenticular Degeneration Pathogenesis and Therapy
Wenjie Hao, Wenming Yang, Yue Yang, Ting Cheng, Taohua Wei, Lulu Tang, Nannan Qian, Yulong Yang, Xiang Li, Hailin Jiang, Meixia Wang
Mol Neurobiol. 2024; 61(3): 1673–1686. Published online 2023 Sep 27. doi: 10.1007/s12035-023-03631-1
PMCID:
PMC10896925
ArticlePDF–1.6M
11.
Epidemiology of Wilson’s Disease and Pathogenic Variants of the ATP7B Gene Leading to Diversified Protein Disfunctions
Elena Vasilievna Ovchinnikova, Mikhail Maksimovich Garbuz, Anna Aleksandrovna Ovchinnikova, Vadim Vladimirovich Kumeiko
Int J Mol Sci. 2024 Feb; 25(4): 2402. Published online 2024 Feb 18. doi: 10.3390/ijms25042402
PMCID:
PMC10889319
ArticlePDF–1.9M
12.
Constructing “smart” chelators by using an activatable prochelator strategy for the treatment of Wilson's disease
Chengcheng Wang, Roumin Wang, Lingzhou Zhao, Shasha Wang, Yan Liu, Jinhua Zhao, Yi Dong, Lingyan Liu, Peng Wei, Zhi-Ying Wu, Tao Yi
Redox Biol. 2024 Apr; 70: 103076. Published online 2024 Feb 6. doi: 10.1016/j.redox.2024.103076
PMCID:
PMC10869257
ArticlePDF–10M
13.
A rare presentation of Wilson disease with neurological symptoms: Case report and genetic analysis
Chukwuka Elendu, Dependable C. Amaechi, Klein A. Jingwa, Tochi C. Elendu
Medicine (Baltimore) 2024 Feb 2; 103(5): e37099. Published online 2023 Feb 2. doi: 10.1097/MD.0000000000037099
PMCID:
PMC10843346
ArticlePDF–425K
14.
Report of an Iranian child with chronic abdominal pain and constipation diagnosed as glycogen storage disease type IX: a case report
Daniel Zamanfar, Seyed MohammadBagher Hashemi-Soteh, Mobin Ghazaiean, Elham Keyhanian
J Med Case Rep. 2024; 18: 14. Published online 2024 Jan 12. doi: 10.1186/s13256-023-04295-0
PMCID:
PMC10785502
ArticlePDF–764K
15.
Carrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais
Wanna Chetruengchai, Prasit Phowthongkum, Vorasuk Shotelersuk
BMC Med Genomics. 2024; 17: 9. Published online 2024 Jan 2. doi: 10.1186/s12920-023-01771-w
PMCID:
PMC10762924
ArticlePDF–1002K
16.
Response of Fibroblasts from Menkes’ and Wilson’s Copper Metabolism-Related Disorders to Ionizing Radiation: Influence of the Nucleo-Shuttling of the ATM Protein Kinase
Laura El Nachef, Joëlle Al-Choboq, Michel Bourguignon, Nicolas Foray
Biomolecules. 2023 Dec; 13(12): 1746. Published online 2023 Dec 5. doi: 10.3390/biom13121746
PMCID:
PMC10741441
ArticlePDF–4.8M
17.
Regulation of the apico-basolateral trafficking polarity of the homologous copper-ATPases ATP7A and ATP7B
Ruturaj, Monalisa Mishra, Soumyendu Saha, Saptarshi Maji, Enrique Rodriguez-Boulan, Ryan Schreiner, Arnab Gupta
J Cell Sci. 2024 Mar 1; 137(5): jcs261258. Published online 2023 Nov 30. doi: 10.1242/jcs.261258
PMCID:
PMC10729821
Article
18.
Gandouling alleviates nerve injury through PI3K/Akt/FoxO1 and Sirt1/FoxO1 signaling pathway to inhibit autophagy in the rats model of Wilson's disease
Li Chen, Wangyang Xu, Yuting Zhang, Hao Chen, Yanquan Han
Brain Behav. 2023 Dec; 13(12): e3325. Published online 2023 Nov 27. doi: 10.1002/brb3.3325
PMCID:
PMC10726812
ArticlePDF–1.8M
19.
α-lipoic acid ameliorates consequences of copper overload by up-regulating selenoproteins and decreasing redox misbalance
Ekaterina Kabin, Yixuan Dong, Shubhrajit Roy, Julia Smirnova, Joshua W. Smith, Martina Ralle, Kelly Summers, Haojun Yang, Som Dev, Yu Wang, Benjamin Devenney, Robert N. Cole, Peep Palumaa, Svetlana Lutsenko
Proc Natl Acad Sci U S A. 2023 Oct 3; 120(40): e2305961120. Published online 2023 Sep 26. doi: 10.1073/pnas.2305961120
PMCID:
PMC10556618
ArticlePDF–6.4M
20.
Stimulation of Liver Fibrosis by N2 Neutrophils in Wilson’s Disease
Xiaoxiao Mi, Yu Song, Chaohua Deng, Jian Yan, Zhihui Li, Yingniang Li, Jun Zheng, Wenjun Yang, Ling Gong, Junping Shi
Cell Mol Gastroenterol Hepatol. 2023; 16(5): 657–684. Published online 2023 Jul 3. doi: 10.1016/j.jcmgh.2023.06.012
PMCID:
PMC10514429
ArticlePDF–15M

Display Settings:

Format
Items per page
Sort by

Send to:

Choose Destination

Supplemental Content

Filter your results:

Find related data

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...
You are here: NCBI > Literature > PubMed Central (PMC)
Support Center