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Select item 106551741.

Lipid Nanoparticle-Mediated Hit-and-Run Approaches Yield Efficient and Safe In Situ Gene Editing in Human Skin

Juliana Bolsoni, Danny Liu, Fatemeh Mohabatpour, Ronja Ebner, Gaurav Sadhnani, Belal Tafech, Jerry Leung, Selina Shanta, Kevin An, Tessa Morin, Yihang Chen, Alfonso Arguello, Keith Choate, Eric Jan, Colin J.D. Ross, Davide Brambilla, Dominik Witzigmann, Jayesh Kulkarni, Pieter R. Cullis, Sarah Hedtrich

ACS Nano. 2023 Nov 14; 17(21): 22046–22059. Published online 2023 Nov 2. doi: 10.1021/acsnano.3c08644

PMCID:: PMC10655174

Article PDF–12M

Select item 93802812.

The Burden of Autosomal Recessive Congenital Ichthyoses on Patients and their Families: An Italian Multicentre Study

Damiano ABENI, Roberta ROTUNNO, Andrea DIOCIAIUTI, Simona GIANCRISTOFORO, Domenico BONAMONTE, Angela FILONI, Carmelo SCHEPIS, Maddalena SIRAGUSA, Iria NERI, Annalucia VIRDI, Daniele CASTIGLIA, Giovanna ZAMBRUNO, Christine BODEMER, May EL HACHEM

Acta Derm Venereol. 2021; 101(6): 618. Published online 2021 Jun 22. doi: 10.2340/00015555-3822

PMCID:: PMC9380281

Article PDF–582K

Select item 93754123.

Novel mutations of the ABCA12, KRT1 and ST14 genes in three unrelated newborns showing congenital ichthyosis

Gregorio Serra, Luigi Memo, Paola Cavicchioli, Mario Cutrone, Mario Giuffrè, Maria Laura La Torre, Ingrid Anne Mandy Schierz, Giovanni Corsello

Ital J Pediatr. 2022; 48: 145. Published online 2022 Aug 13. doi: 10.1186/s13052-022-01336-0

PMCID:: PMC9375412

Article PDF–1.2M

Select item 92103014.

ABHD5 frameshift deletion in Golden Retrievers with ichthyosis

Sarah Kiener, Dominique J Wiener, Kaitlin Hopke, Alison B Diesel, Vidhya Jagannathan, Elizabeth A Mauldin, Margret L Casal, Tosso Leeb

G3 (Bethesda) 2022 Feb; 12(2): jkab397. Published online 2021 Nov 15. doi: 10.1093/g3journal/jkab397

PMCID:: PMC9210301

Article PDF–693K

Select item 91289655.

Molecular Genetics of Keratinization Disorders – What’s New About Ichthyosis

Jouni UITTO, Leila YOUSSEFIAN, Amir Hossein SAEIDIAN, Hassan VAHIDNEZHAD

Acta Derm Venereol. 2020; 100(7): 5691. Published online 2020 Mar 25. doi: 10.2340/00015555-3431

PMCID:: PMC9128965

Article PDF–15M

Select item 88489686.

Structural and functional foot disorders in patients with genodermatoses: a single-centre, retrospective chart review

Aldona Pietrzak, Bartlomiej Wawrzycki, Matthias Schmuth, Katarzyna Wertheim-Tysarowska

Orphanet J Rare Dis. 2022; 17: 53. Published online 2022 Feb 16. doi: 10.1186/s13023-022-02207-x

PMCID:: PMC8848968

Article PDF–1.8M

Select item 87532927.

Correction of the pathogenic mutation in TGM1 gene by adenine base editing in mutant embryos

Lu Dang, Xueliang Zhou, Xiufang Zhong, Wenxia Yu, Shisheng Huang, Hanyan Liu, Yuanyuan Chen, Wuwen Zhang, Lihua Yuan, Lei Li, Xingxu Huang, Guanglei Li, Jianqiao Liu, Guoqing Tong

Mol Ther. 2022 Jan 5; 30(1): 175–183. Published online 2021 May 8. doi: 10.1016/j.ymthe.2021.05.007

PMCID:: PMC8753292

Article PDF–2.5M

Select item 85501208.

A frameshift insertion in FA2H causes a recessively inherited form of ichthyosis congenita in Chianina cattle

Joana G. P. Jacinto, Irene M. Häfliger, Inês M. B. Veiga, Anna Letko, Arcangelo Gentile, Cord Drögemüller

Mol Genet Genomics. 2021; 296(6): 1313–1322. Published online 2021 Oct 2. doi: 10.1007/s00438-021-01824-8

PMCID:: PMC8550120

Article PDF–2.4M

Select item 80334199.

An IL-17-dominant immune profile is shared across the major orphan forms of ichthyosis

Amy S. Paller, Yael Renert-Yuval, Margeaux Oliva, Hitokazu Esaki, Maria Suprun, Thy Nhat Huynh, Benjamin Ungar, Rivka Friedland, Xiangyu Peng, Xiuzhong Zheng, Yeriel D. Estrada, James G. Krueger, Keith A. Choate, Mayte Suárez-Fariñas, Emma Guttman-Yassky

J Allergy Clin Immunol. Author manuscript; available in PMC 2021 Apr 9.

Published in final edited form as: J Allergy Clin Immunol. 2017 Jan; 139(1): 152–165. Published online 2016 Aug 20. doi: 10.1016/j.jaci.2016.07.019

PMCID:: PMC8033419

Article PDF–2.3M

Select item 650303210.

A novel ABCA12 pathologic variant identified in an Ecuadorian harlequin ichthyosis patient: A step forward in genotype‐phenotype correlations

Martha Montalván‐Suárez, Uxia Saraiva Esperón‐Moldes, Laura Rodríguez‐Pazos, Andrés Ordóñez‐Ugalde, Fernanda Moscoso, Nora Ugalde‐Noritz, Luis Santomé, Laura Fachal, Daniel Tettamanti‐Miranda, Juan Carlos Ruiz, Manuel Ginarte, Ana Vega

Mol Genet Genomic Med. 2019 May; 7(5): e608. Published online 2019 Mar 27. doi: 10.1002/mgg3.608

PMCID:: PMC6503032

Article PDF–946K

Select item 641837311.

Unknown mutations and genotype/phenotype correlations of autosomal recessive congenital ichthyosis in patients from Saudi Arabia and Pakistan

Dulce Lima Cunha, Omar Mohammed Alakloby, Robert Gruber, Naseebullah Kakar, Jamil Ahmad, Salem Alawbathani, Roswitha Plank, Katja Eckl, Birgit Krabichler, Janine Altmüller, Peter Nürnberg, Johannes Zschocke, Guntram Borck, Matthias Schmuth, Adnan S. Alabdulkareem, Kholood Abdulaziz Alnutaifi, Hans Christian Hennies

Mol Genet Genomic Med. 2019 Mar; 7(3): e539. Published online 2019 Jan 1. doi: 10.1002/mgg3.539

PMCID:: PMC6418373

Article PDF–1.0M

Select item 538687912.

A Nonsense Variant in the ST14 Gene in Akhal-Teke Horses with Naked Foal Syndrome

Anina Bauer, Theresa Hiemesch, Vidhya Jagannathan, Markus Neuditschko, Iris Bachmann, Stefan Rieder, Sofia Mikko, M. Cecilia Penedo, Nadja Tarasova, Martina Vitková, Nicolò Sirtori, Paola Roccabianca, Tosso Leeb, Monika M. Welle

G3 (Bethesda) 2017 Apr; 7(4): 1315–1321. Published online 2017 Feb 22. doi: 10.1534/g3.117.039511

PMCID:: PMC5386879

Article PDF–2.0M

Select item 495605213.

Activation of Molecular Signatures for Antimicrobial and Innate Defense Responses in Skin with Transglutaminase 1 Deficiency

Takashi Haneda, Yasutomo Imai, Ryosuke Uchiyama, Orie Jitsukawa, Kiyofumi Yamanishi

PLoS One. 2016; 11(7): e0159673. Published online 2016 Jul 21. doi: 10.1371/journal.pone.0159673

PMCID:: PMC4956052

Article PDF–2.2M

Select item 392567614.

Matriptase regulates proliferation and early, but not terminal, differentiation of human keratinocytes

Ya-Wen Chen, Jehng-Kang Wang, Fen-Pai Chou, Bai-Yao Wu, Hui-Chung Hsiao, Han Chiu, Zhonghong Xu, Adrienne NH Baksh, Galen Shi, Malvika Kaul, Robert Barndt, Victoria K. Shanmugam, Michael D. Johnson, Chen-Yong Lin

J Invest Dermatol. Author manuscript; available in PMC 2014 Aug 1.

Published in final edited form as: J Invest Dermatol. 2014 Feb; 134(2): 405–414. Published online 2013 Jul 26. doi: 10.1038/jid.2013.320

PMCID:: PMC3925676

Article PDF–1.0M

Select item 351145815.

A Spontaneous Fatp4/Scl27a4 Splice Site Mutation in a New Murine Model for Congenital Ichthyosis

Jianning Tao, Maranke I. Koster, Wilbur Harrison, Jennifer L. Moran, David R. Beier, Dennis R. Roop, Paul A. Overbeek

PLoS One. 2012; 7(11): e50634. Published online 2012 Nov 30. doi: 10.1371/journal.pone.0050634

Correction in:: PLoS One. 2014; 9(2): e91624.

PMCID:: PMC3511458

Article PDF–3.3M

Select item 332522216.

Multiple Local and Recent Founder Effects of TGM1 in Spanish Families

Laura Fachal, Laura Rodríguez-Pazos, Manuel Ginarte, Jaime Toribio, Antonio Salas, Ana Vega

PLoS One. 2012; 7(4): e33580. Published online 2012 Apr 12. doi: 10.1371/journal.pone.0033580

PMCID:: PMC3325222

Article PDF–227K

Select item 325044817.

siRNA Silencing of Proteasome Maturation Protein (POMP) Activates the Unfolded Protein Response and Constitutes a Model for KLICK Genodermatosis

Johanna Dahlqvist, Hans Törmä, Jitendra Badhai, Niklas Dahl

PLoS One. 2012; 7(1): e29471. Published online 2012 Jan 3. doi: 10.1371/journal.pone.0029471

PMCID:: PMC3250448

Article PDF–652K

Select item 324330918.

Transglutaminase-1 (TGM1) Gene Mutations in Autosomal Recessive Congenital Ichthyosis: Summary of Mutations (Including 23 Novel) and Modeling of TGase-1

Matthew L. Herman, Sharifeh Farasat, Peter J. Steinbach, Ming-Hui Wei, Ousmane Toure, Philip Fleckman, Patrick Blake, Sherri J. Bale, Jorge R. Toro

Hum Mutat. Author manuscript; available in PMC 2011 Dec 20.

Published in final edited form as: Hum Mutat. 2009 Apr; 30(4): 537–547. doi: 10.1002/humu.20952

PMCID:: PMC3243309

Article PDF–2.0M

Select item 301920719.

Clinical and genetic characterization of chanarin-dorfman syndrome patients: first report of large deletions in the ABHD5 gene

Chiara Redaelli, Rosalind A Coleman, Laura Moro, Catherine Dacou-Voutetakis, Solaf Mohamed Elsayed, Daniele Prati, Agostino Colli, Donatella Mela, Roberto Colombo, Daniela Tavian

Orphanet J Rare Dis. 2010; 5: 33. Published online 2010 Dec 1. doi: 10.1186/1750-1172-5-33