威尔逊氏病——基因组复杂性仍有待揭示！ - Suppr

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超能文献

Wilson Disease-Genomic Complexities Yet to Be Unveiled!

作者信息

Endrakanti Mounika, Kabra Madhulika, Gupta Neerja

机构信息

Division of Genetics, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi, India.

出版信息

Indian J Pediatr. 2023 Mar;90(3):219. doi: 10.1007/s12098-022-04428-1. Epub 2023 Jan 6.

DOI:10.1007/s12098-022-04428-1

PMID:36607510

Abstract

摘要

相似文献

Wilson Disease-Genomic Complexities Yet to Be Unveiled!

Indian J Pediatr. 2023 Mar;90(3):219. doi: 10.1007/s12098-022-04428-1. Epub 2023 Jan 6.

[Study of the serum copper-oxidase activity in 8 families affected by Struempell-Wilson disease (hepatolentricular degeneration)].

Sist Nerv. 1961 Jul-Aug;13:237-52.

Menkes disease and Wilson disease: two sides of the same copper coin. Part II: Wilson disease.

Eur J Paediatr Neurol. 1999;3(6):245-53. doi: 10.1016/s1090-3798(99)90979-0.

Wilson disease: current status and the future.

Biochimie. 2009 Oct;91(10):1278-81. doi: 10.1016/j.biochi.2009.07.012. Epub 2009 Jul 30.

Wilson disease.

Med Electron Microsc. 2002 Jun;35(2):61-6. doi: 10.1007/s007950200007.

Low molecular weight copper binding proteins in Wilson disease.

Acta Anthropogenet. 1985;9(1-3):63-70.

[From gene to disease; Wilson disease: copper storage due to mutations in ATP7B].

Ned Tijdschr Geneeskd. 2003 Mar 29;147(13):603-5.

Lipid and copper metabolism in humans with wilson disease: Enigmatic relationship.

Hepatology. 2017 Feb;65(2):753-755. doi: 10.1002/hep.28936. Epub 2016 Dec 29.

A microbial peptide to rescue severe and fulminant Wilson disease?

Clin Res Hepatol Gastroenterol. 2016 Dec;40(6):647-649. doi: 10.1016/j.clinre.2016.08.004. Epub 2016 Oct 12.

Pregnancy in Wilson disease.

Hepatology. 2018 Apr;67(4):1201-1203. doi: 10.1002/hep.29619. Epub 2018 Feb 20.

本文引用的文献

Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease.

Indian J Pediatr. 2023 Mar;90(3):240-248. doi: 10.1007/s12098-022-04250-9. Epub 2022 Sep 16.

Wilson's Disease Update: An Indian Perspective.

Ann Indian Acad Neurol. 2022 Jan-Feb;25(1):43-53. doi: 10.4103/aian.aian_1070_21. Epub 2022 Feb 18.

Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease.

Hepatology. 2019 Apr;69(4):1464-1476. doi: 10.1002/hep.30280. Epub 2019 Mar 1.

Epigenetic changes of the thioredoxin system in the tx-j mouse model and in patients with Wilson disease.

Hum Mol Genet. 2018 Nov 15;27(22):3854-3869. doi: 10.1093/hmg/ddy262.

The genetics of Wilson disease.

Handb Clin Neurol. 2017;142:19-34. doi: 10.1016/B978-0-444-63625-6.00003-3.

Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.

Parkinsonism Relat Disord. 2014 Jan;20(1):75-81. doi: 10.1016/j.parkreldis.2013.09.021. Epub 2013 Sep 25.

Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.

Ann Hum Genet. 2013 Jul;77(4):299-307. doi: 10.1111/ahg.12024. Epub 2013 Apr 2.

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相似文献

Wilson Disease-Genomic Complexities Yet to Be Unveiled!

Indian J Pediatr. 2023 Mar;90(3):219. doi: 10.1007/s12098-022-04428-1. Epub 2023 Jan 6.

[Study of the serum copper-oxidase activity in 8 families affected by Struempell-Wilson disease (hepatolentricular degeneration)].

Sist Nerv. 1961 Jul-Aug;13:237-52.

Menkes disease and Wilson disease: two sides of the same copper coin. Part II: Wilson disease.

Eur J Paediatr Neurol. 1999;3(6):245-53. doi: 10.1016/s1090-3798(99)90979-0.

Wilson disease: current status and the future.

Biochimie. 2009 Oct;91(10):1278-81. doi: 10.1016/j.biochi.2009.07.012. Epub 2009 Jul 30.

Wilson disease.

Med Electron Microsc. 2002 Jun;35(2):61-6. doi: 10.1007/s007950200007.

Low molecular weight copper binding proteins in Wilson disease.

Acta Anthropogenet. 1985;9(1-3):63-70.

[From gene to disease; Wilson disease: copper storage due to mutations in ATP7B].

Ned Tijdschr Geneeskd. 2003 Mar 29;147(13):603-5.

Lipid and copper metabolism in humans with wilson disease: Enigmatic relationship.

Hepatology. 2017 Feb;65(2):753-755. doi: 10.1002/hep.28936. Epub 2016 Dec 29.

A microbial peptide to rescue severe and fulminant Wilson disease?

Clin Res Hepatol Gastroenterol. 2016 Dec;40(6):647-649. doi: 10.1016/j.clinre.2016.08.004. Epub 2016 Oct 12.

Pregnancy in Wilson disease.

Hepatology. 2018 Apr;67(4):1201-1203. doi: 10.1002/hep.29619. Epub 2018 Feb 20.

本文引用的文献

Genomic Variations in ATP7B Gene in Indian Patients with Wilson Disease.

Indian J Pediatr. 2023 Mar;90(3):240-248. doi: 10.1007/s12098-022-04250-9. Epub 2022 Sep 16.

Wilson's Disease Update: An Indian Perspective.

Ann Indian Acad Neurol. 2022 Jan-Feb;25(1):43-53. doi: 10.4103/aian.aian_1070_21. Epub 2022 Feb 18.

Age and Sex but Not ATP7B Genotype Effectively Influence the Clinical Phenotype of Wilson Disease.

Hepatology. 2019 Apr;69(4):1464-1476. doi: 10.1002/hep.30280. Epub 2019 Mar 1.

Epigenetic changes of the thioredoxin system in the tx-j mouse model and in patients with Wilson disease.

Hum Mol Genet. 2018 Nov 15;27(22):3854-3869. doi: 10.1093/hmg/ddy262.

The genetics of Wilson disease.

Handb Clin Neurol. 2017;142:19-34. doi: 10.1016/B978-0-444-63625-6.00003-3.

Genetic defects in Indian Wilson disease patients and genotype-phenotype correlation.

Parkinsonism Relat Disord. 2014 Jan;20(1):75-81. doi: 10.1016/j.parkreldis.2013.09.021. Epub 2013 Sep 25.

Wilson disease mutation pattern with genotype-phenotype correlations from Western India: confirmation of p.C271* as a common Indian mutation and identification of 14 novel mutations.

Ann Hum Genet. 2013 Jul;77(4):299-307. doi: 10.1111/ahg.12024. Epub 2013 Apr 2.