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PLD | Abstract Library |
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| The summaries are free for public
use. The Chronic Liver Disease
Foundation will continue to add and
archive summaries of articles deemed
relevant to CLDF by the Board of
Trustees and its Advisors. |
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| 3. | ATP7B variant spectrum in a French pediatric Wilson disease cohort |
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Eur J Med Genet. 2021 Aug 13;104305. doi: 10.1016/j.ejmg.2021.104305. Online ahead of print.
Eduardo Couchonnal 1, Sophie Bouchard 2, Thomas Damgaard Sandahl 3, Cecile Pagan 4, Laurence Lion-François 5, Olivier Guillaud 5, Dalila Habes 6, Dominique Debray 7, Thierry Lamireau 8, Pierre Broué 9, Alexandre Fabre 10, Claire Vanlemmens 11, Rodolphe Sobesky 12, Frederic Gottrand 13, Laure Bridoux-Henno 14, Abdelouahed Belmalih 5, Aurelia Poujois 15, Anne Sophie Brunet 16, Alain Lachaux 17, Muriel Bost 18
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| 5. | ATP7B variant spectrum in a French pediatric Wilson disease cohort |
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Eur J Med Genet. 2021 Aug 13;104305. doi: 10.1016/j.ejmg.2021.104305. Online ahead of print.
Eduardo Couchonnal 1, Sophie Bouchard 2, Thomas Damgaard Sandahl 3, Cecile Pagan 4, Laurence Lion-François 5, Olivier Guillaud 5, Dalila Habes 6, Dominique Debray 7, Thierry Lamireau 8, Pierre Broué 9, Alexandre Fabre 10, Claire Vanlemmens 11, Rodolphe Sobesky 12, Frederic Gottrand 13, Laure Bridoux-Henno 14, Abdelouahed Belmalih 5, Aurelia Poujois 15, Anne Sophie Brunet 16, Alain Lachaux 17, Muriel Bost 18
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| 7. | Clinical experience with non-invasive prenatal screening for single-gene disorders (NIPT-SGD) |
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Ultrasound Obstet Gynecol. 2021 Aug 6. doi: 10.1002/uog.23756. Online ahead of print.
P Mohan 1, J Lemoine 1, C Trotter 1, I Rakova 1, P Billings 1, S Peacock 2, C-Y Kao 2, Y Wang 2 3, F Xia 2 3, C M Eng 2 3, P Benn 3
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| 9. | Wilson's disease: Revisiting an old friend |
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World J Hepatol. 2021 Jun 27;13(6):634-649. doi: 10.4254/wjh.v13.i6.634.
Ana Lucena-Valera 1, Domingo Perez-Palacios 1, Rocio Muñoz-Hernandez 2, Manuel Romero-Gómez 3, Javier Ampuero 4
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| 11. | Liver changes in Wilson's disease: the full spectrum. A report of 127 biopsies from 43 patients |
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Eur Rev Med Pharmacol Sci. 2021 Jun;25(12):4336-4344. doi: 10.26355/eurrev_202106_26142.
D Fanni 1, M Guido, C Gerosa, V Vallascas, M Moi, P Coni, E Vallebona, P Van Eyken, D Barcellona, A Scano, G Orrù, P Pampaloni, M Castagnola, G Faa
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| 12. | Generation of an induced pluripotent stem cell line (TRNDi031-A) from a patient with Alagille syndrome type 1 carrying a heterozygous p. C312X (c. 936 T > A) mutation in JAGGED-1 |
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Stem Cell Res. 2021 Jun 24;54:102447. doi: 10.1016/j.scr.2021.102447. Online ahead of print.
Brianna M Brooks 1, Manisha Pradhan 1, Yu-Shan Cheng 1, Kirill Gorshkov 1, Atena Farkhondeh 1, Catherine Z Chen 1, Jeanette Beers 2, Chengyu Liu 3, Karsten Baumgaertel 4, Steven Rodems 4, Wei Zheng 5
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| 13. | Generation of Alagille syndrome derived induced pluripotent stem cell line carrying heterozygous mutation in the JAGGED-1 gene at splicing site (Chr20: 10,629,709C>A) before exon 11 |
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Stem Cell Res. 2021 May;53:102366. doi: 10.1016/j.scr.2021.102366. Epub 2021 Apr 27.
Wei Zhu 1, Yu-Shan Cheng 1, Miao Xu 1, Atena Farkhondeh 1, Jeanette Beers 2, Jizhong Zou 2, Chengyu Liu 3, Karsten Baumgaertel 4, Steven Rodems 4, Wei Zheng 5
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| 15. | Pediatric Wilson's Disease: Phenotypic, Genetic Characterization and Outcome of 182 Children in France |
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J Pediatr Gastroenterol Nutr. 2021 Jun 1. doi: 10.1097/MPG.0000000000003196.Online ahead of print.
Eduardo Couchonnal 1, Laurence Lion-François, Olivier Guillaud, Dalila Habes, Dominique Debray, Thierry Lamireau, Pierre Broué, Alexandre Fabre, Claire Vanlemmens, Rodolphe Sobesky, Frederic Gottrand, Laure Bridoux-Henno, Jérôme Dumortier, Abdelouahed Belmalih, Aurelia Poujois, Emmanuel Jacquemin, Anne Sophie Brunet, Muriel Bost, Alain Lachaux
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| 23. | Advanced Microscopy for Liver and Gut Ultrastructural Pathology in Patients with MVID and PFIC Caused by MYO5B Mutations |
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J Clin Med. 2021 Apr 28;10(9):1901. doi: 10.3390/jcm10091901.
Michael W Hess 1, Iris M Krainer 2, Przemyslaw A Filipek 2, Barbara Witting 1, Karin Gutleben 1, Ilja Vietor 3, Heinz Zoller 4, Denise Aldrian 5, Ekkehard Sturm 6, James R Goldenring 7, Andreas R Janecke 5, Thomas Müller 5, Lukas A Huber 3, Georg F Vogel 3 5
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| 25. | Use of a Comprehensive 66-Gene Cholestasis Sequencing Panel in 2171 Cholestatic Infants, Children, and Young Adults |
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Pediatr Gastroenterol Nutr. 2021 Feb 22. doi: 10.1097/MPG.0000000000003094.Online ahead of print.
Saul J Karpen 1, Binita M Kamath, John J Alexander, Ilia Ichetovkin, Philip Rosenthal, Ronald J Sokol, Shelley Dunn, Richard J Thompson, James E Heubi
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| 26. | Deleterious variants in ABCC12 are detected in idiopathic chronic cholestasis and cause intrahepatic bile duct loss in model organisms: ABCC12 pathogenic variants lead to cholestasis |
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Gastroenterology. 2021 Mar 18;S0016-5085(21)00535-7. doi: 10.1053/j.gastro.2021.03.026.Online ahead of print.
Duc-Hung Pham 1, Ramesh Kudira 1, Lingfen Xu 2, C Alexander Valencia 3, Jillian L Ellis 1, Tiffany Shi 1, Kimberley J Evason 4, Immaculeta Osuji 1, Nelson Matuschek 1, Liva Pfuher 1, Mary Mullen 1, Sujit K Mohanty 5, Ammar Husami 6, Laura N Bull 7, Kejian Zhang 8, Sami Wali 9, Chunyue Yin 10, Alexander Miethke 11
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| 32. | Nonfasted Liver Stiffness Correlates with Liver Disease Parameters and Portal Hypertension in Pediatric Cholestatic Liver Disease |
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Hepatol Commun. 2020 Aug 5;4(11):1694-1707. doi: 10.1002/hep4.1574. eCollection 2020 Nov.
Benjamin L Shneider 1, Nathan P Goodrich 2, Wen Ye 3, Cindy Sawyers 4, Jean P Molleston 4, Robert M Merion 2 3, Daniel H Leung 1, Saul J Karpen 5, Binita M Kamath 6, Laurel Cavallo 1, Kasper Wang 7, Jeffrey H Teckman 8, James E Squires 9, Shikha S Sundaram 10, Philip Rosenthal 11, Rene Romero 5, Karen F Murray 12, Kathleen M Loomes 13, M Kyle Jensen 14, Jorge A Bezerra 15, Lee M Bass 16, Ronald J Sokol 10, John C Magee 3, Childhood Liver Disease Research Network (ChiLDReN)
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| 35. | Outcomes in Patients with Alagille Syndrome and Complex Pulmonary Artery Disease |
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J Pediatr. 2021 Feb;229:86-94.e4.doi: 10.1016/j.jpeds.2020.09.053. Epub 2020 Sep 24.
Roger Luong 1, Jeffrey A Feinstein 2, Michael Ma 3, Noelle H Ebel 2, Lisa Wise-Faberowski 4, Yulin Zhang 3, Lynn F Peng 2, Vamsi V Yarlagadda 2, Jennifer Shek 3, Frank L Hanley 3, Doff B McElhinney 5
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| 37. | Impact of Genotype, Serum Bile Acids, and Surgical Biliary Diversion on Native Liver Survival in FIC1 Deficiency |
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Hepatology. 2021 Mar 5. doi: 10.1002/hep.31787. Online ahead of print.
Daan B E van Wessel 1, Richard J Thompson 2, Emmanuel Gonzales 3 4, Irena Jankowska 4 5, Benjamin L Shneider 6 7, Etienne Sokal 4 8, Tassos Grammatikopoulos 2, Agustina Kadaristiana 2, Emmanuel Jacquemin 3 9, Anne Spraul 9 10, Patryk Lipinski 4 5, Piotr Czubkowski 4 5, Nathalie Rock 8, Mohammad Shagrani 11 12, Dieter Broering 11, Talal Algoufi 11, Nejat Mazhar 11, Emanuele Nicastro 13, Deirdre Kelly 4 14, Gabriella Nebbia 15, Henrik Arnell 4 16, Björn Fischler 4 16, Jan B F Hulscher 4 17, Daniele Serranti 18, Cigdem Arikan 19, Dominique Debray 20, Florence Lacaille 20, Cristina Goncalves 4 21, Loreto Hierro 4 22, Gema Muñoz Bartolo 4 22, Yael Mozer-Glassberg 23, Amer Azaz 24, Jernej Brecelj 25, Antal Dezsofi 26, Pier Luigi Calvo 27, Dorothee Krebs-Schmitt 28, Steffen Hartleif 4 29, Wendy L van der Woerd 30, Jian-She Wang 31, Li-Ting Li 31, Özlem Durmaz 32, Nanda Kerkar 33, Marianne Hørby Jørgensen 4 34, Ryan Fischer 35, Carolina Jimenez-Rivera 36, Seema Alam 37, Mara Cananzi 4 38, Noémie Laverdure 4 39, Cristina Targa Ferreira 40, Felipe Ordonez 41, Heng Wang 42, Valerie Sency 42, Kyung Mo Kim 43, Huey-Ling Chen 44, Elisa Carvalho 45, Alexandre Fabre 46, Jesus Quintero Bernabeu 4 47, Estella M Alonso 7 48, Ronald J Sokol 7 49, Frederick J Suchy 7 50, Kathleen M Loomes 7 51, Patrick J McKiernan 7 52, Philip Rosenthal 7 53, Yumirle Turmelle 7 54, Girish S Rao 7 55, Simon Horslen 7 56, Binita M Kamath 7 57, Maria Rogalidou 58, Wikrom W Karnsakul 59, Bettina Hansen 60 61, Henkjan J Verkade 1 4
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| 39. | Alagille Syndrome |
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Clin Liver Dis. 2018 Nov;22(4):625-641. doi: 10.1016/j.cld.2018.06.001.Epub 2018 Aug 22.Ellen Mitchell 1, Melissa Gilbert 2, Kathleen M Loomes 3
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| 42. | Alagille syndrome mutation update: Comprehensive overview of JAG1 and NOTCH2 mutation frequencies and insight into missense variant classification |
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Hum Mutat. 2019 Dec;40(12):2197-2220. doi: 10.1002/humu.23879. Epub 2019 Aug 26.
Melissa A Gilbert 1, Robert C Bauer 1, Ramakrishnan Rajagopalan 1, Christopher M Grochowski 1, Grace Chao 1, Deborah McEldrew 1, James A Nassur 1, Elizabeth B Rand 2, Bryan L Krock 1, Binita M Kamath 3, Ian D Krantz 4 5, David A Piccoli 2, Kathleen M Loomes 2, Nancy B Spinner 1
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| 52. | Burden of illness of progressive familial intrahepatic cholestasis in the US, UK, France, and Germany: study rationale and protocol of the PICTURE study |
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Expert Rev Pharmacoecon Outcomes Res. 2021 Jan 7;1-7. doi: 10.1080/14737167.2021.1859371.Online ahead of print.
Leonardo Ruiz-Casas 1, Sonia O'Hara 2, Claudia Mighiu 2, Alan Finnegan 3, Alison Taylor 4, Emily Ventura 5, Anil Dhawan 6, Karen F Murray 7, Jorn Schattenberg 8, Jose Willemse 9, Melanie Karakaidos 5, Harpreet Brrang 4
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| 58. | Liver transplantation as a rescue therapy for severe neurologic forms of Wilson disease |
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Neurology. 2020 May 26;94(21):e2189-e2202. doi: 10.1212/WNL.0000000000009474.Epub 2020 May 12.
Aurélia Poujois 1, Rodolphe Sobesky 2, Wassilios G Meissner 2, Anne-Sophie Brunet 2, Emmanuel Broussolle 2, Chloé Laurencin 2, Laurence Lion-François 2, Olivier Guillaud 2, Alain Lachaux 2, François Maillot 2, Jérémie Belin 2, Ephrem Salamé 2, Claire Vanlemmens 2, Bruno Heyd 2, Céline Bellesme 2, Dalila Habes 2, Christophe Bureau 2, Fabienne Ory-Magne 2, Pascal Chaine 2, Jean-Marc Trocello 2, Daniel Cherqui 2, Didier Samuel 2, Victor de Ledinghen 2, Jean-Charles Duclos-Vallée 2, France Woimant 2
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| 59. | Wilson disease in children and adolescents |
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Arch Dis Child. 2020 May;105(5):499-505.doi: 10.1136/archdischild-2018-315705.Epub 2020 Jan 23.
Meranthi Fernando 1, Indra van Mourik 2, Evangeline Wassmer 3, Deirdre Kelly 1
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