Literature DB >> 33753100

Expanding the Diagnostic Toolkit of Wilson Disease with ATP7B Peptides.

Valentina Medici1.   

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Year:  2021        PMID： 33753100      PMCID： PMC8666137          DOI： 10.1053/j.gastro.2021.03.025

Source DB:  PubMed          Journal:  Gastroenterology        ISSN： 0016-5085            Impact factor:   33.883


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  15 in total

1.  Whole-exome sequencing identifies novel pathogenic variants across the ATP7B gene and some modifiers of Wilson's disease phenotype.

Authors:  Anna Kluska; Maria Kulecka; Tomasz Litwin; Karolina Dziezyc; Aneta Balabas; Magdalena Piatkowska; Agnieszka Paziewska; Michalina Dabrowska; Michal Mikula; Diana Kaminska; Anna Wiernicka; Piotr Socha; Anna Czlonkowska; Jerzy Ostrowski
Journal:  Liver Int       Date:  2018-10-08       Impact factor: 5.828

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

Authors:  Peter Ferenci; Wolfgang Stremmel; Anna Członkowska; Ferenc Szalay; André Viveiros; Albert Friedrich Stättermayer; Radan Bruha; Roderick Houwen; Tudor Lucian Pop; Rudolf Stauber; Michael Gschwantler; Jan Pfeiffenberger; Cihan Yurdaydin; Elmar Aigner; Petra Steindl-Munda; Hans-Peter Dienes; Heinz Zoller; Karl Heinz Weiss
Journal:  Hepatology       Date:  2019-03-01       Impact factor: 17.425

3.  Diverse functional properties of Wilson disease ATP7B variants.

Authors:  Dominik Huster; Angelika Kühne; Ashima Bhattacharjee; Lily Raines; Vanessa Jantsch; Johannes Noe; Wiebke Schirrmeister; Ines Sommerer; Osama Sabri; Frieder Berr; Joachim Mössner; Bruno Stieger; Karel Caca; Svetlana Lutsenko
Journal:  Gastroenterology       Date:  2012-01-10       Impact factor: 22.682

4.  The Function of ATPase Copper Transporter ATP7B in Intestine.

Authors:  Hannah Pierson; Abigael Muchenditsi; Byung-Eun Kim; Martina Ralle; Nicholas Zachos; Dominik Huster; Svetlana Lutsenko
Journal:  Gastroenterology       Date:  2017-09-25       Impact factor: 22.682

5.  Metabolomics profiles of patients with Wilson disease reveal a distinct metabolic signature.

Authors:  Gaurav V Sarode; Kyoungmi Kim; Dorothy A Kieffer; Noreene M Shibata; Tomas Litwin; Anna Czlonkowska; Valentina Medici
Journal:  Metabolomics       Date:  2019-03-12       Impact factor: 4.290

6.  Outcomes of Acute Liver Injury in Adults Due to Wilson's Disease: Is Survival Without Transplant Possible?

Authors:  Michelle A Camarata; Michelle Gottfried; Jody A Rule; Aftab Ala; William M Lee; R Todd Stravitz; Michael L Schilsky
Journal:  Liver Transpl       Date:  2020-03       Impact factor: 5.799

7.  Bis-choline tetrathiomolybdate in patients with Wilson's disease: an open-label, multicentre, phase 2 study.

Authors:  Karl Heinz Weiss; Frederick K Askari; Anna Czlonkowska; Peter Ferenci; Jeff M Bronstein; Danny Bega; Aftab Ala; David Nicholl; Susan Flint; Lars Olsson; Thomas Plitz; Carl Bjartmar; Michael L Schilsky
Journal:  Lancet Gastroenterol Hepatol       Date:  2017-10-05

Review 8.  Diagnosis and phenotypic classification of Wilson disease.

Authors:  Peter Ferenci; Karel Caca; Georgios Loudianos; Georgina Mieli-Vergani; Stuart Tanner; Irmin Sternlieb; Michael Schilsky; Diane Cox; Frieder Berr
Journal:  Liver Int       Date:  2003-06       Impact factor: 5.828

9.  Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease.

Authors:  Christopher J Collins; Fan Yi; Remwilyn Dayuha; Phi Duong; Simon Horslen; Michelle Camarata; Ayse K Coskun; Roderick H J Houwen; Tudor L Pop; Heinz Zoller; Han-Wook Yoo; Sung Won Jung; Karl H Weiss; Michael L Schilsky; Peter Ferenci; Si Houn Hahn
Journal:  Gastroenterology       Date:  2021-02-25       Impact factor: 22.682

10.  Epigenomic signatures in liver and blood of Wilson disease patients include hypermethylation of liver-specific enhancers.

Authors:  Charles E Mordaunt; Dorothy A Kieffer; Noreene M Shibata; Anna Członkowska; Tomasz Litwin; Karl-Heinz Weiss; Yihui Zhu; Christopher L Bowlus; Souvik Sarkar; Stewart Cooper; Yu-Jui Yvonne Wan; Mohamed R Ali; Janine M LaSalle; Valentina Medici
Journal:  Epigenetics Chromatin       Date:  2019-02-01       Impact factor: 4.954
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  1 in total

Review 1.  Wilson disease and the differential diagnosis of its hepatic manifestations: a narrative review of clinical, laboratory, and liver histological features.

Authors:  Shannon M Schroeder; Karen E Matsukuma; Valentina Medici
Journal:  Ann Transl Med       Date:  2021-09
  1 in total

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