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Select item 95892161.

Rare compound heterozygous variants of LAMB3 and histological features of enamel and oral mucosa

Fang Li, Miao Yu, Zhuangzhuang Fan, Junyi Wu, Hua Tian, Hailan Feng, Yang Liu, Haochen Liu, Dong Han

Front Physiol. 2022; 13: 1006980. Published online 2022 Oct 10. doi: 10.3389/fphys.2022.1006980

PMCID:: PMC9589216

Abstract Article PDF–4.0M

Select item 54186612.

Prevalence of anemia in patients with epidermolysis bullosa registered in Australia

Shelley Ji Eun Hwang, Benjamin S. Daniel, Bonnie Fergie, Jessica Davey, Dédée F. Murrell

Int J Womens Dermatol. 2015 Feb; 1(1): 37–40. Published online 2015 Feb 18. doi: 10.1016/j.ijwd.2014.12.001

PMCID:: PMC5418661

Abstract Article PDF–253K

Select item 110745593.

Advantages of whole-exome sequencing over immunomapping in 67 Brazilian patients with epidermolysis bullosa

Samantha Vernaschi Kelmann, Bruno de Oliveira Stephan, Silvia Maria de Macedo Barbosa, Rita Tiziana Verardo Polastrini, Zilda Najjar Prado de Oliveira, Maria Cecília Rivitti-Machado, Gustavo Marquezani Spolador, Rachel Sayuri Honjo, Ken Saida, Naomichi Matsumoto, Chong Ae Kim

An Bras Dermatol. 2024 May-Jun; 99(3): 350–356. Published online 2024 Feb 16. doi: 10.1016/j.abd.2023.07.002

PMCID:: PMC11074559

Abstract Article PDF–585K

Select item 109826164.

Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta

Ummey Hany, Christopher M Watson, Lu Liu, Claire E L Smith, Asmaa Harfoush, James A Poulter, Georgios Nikolopoulos, Richard Balmer, Catriona J Brown, Anesha Patel, Jenny Simmonds, Ruth Charlton, María Gabriela Acosta de Camargo, Helen D Rodd, Hussain Jafri, Agne Antanaviciute, Michelle Moffat, Maisoon Al-Jawad, Chris F Inglehearn, Alan J Mighell

J Med Genet. 2024 Apr; 61(4): 347–355. Published online 2023 Nov 18. doi: 10.1136/jmg-2023-109510

PMCID:: PMC10982616

Abstract Article PDF–2.8M

Select item 106065335.

Independent COL17A1 Variants in Cats with Junctional Epidermolysis Bullosa

Sarah Kiener, Heather Troyer, Daniel Ruvolo, Paula Grest, Sara Soto, Anna Letko, Vidhya Jagannathan, Tosso Leeb, Elizabeth A. Mauldin, Ching Yang, Ana Rostaher

Genes (Basel) 2023 Oct; 14(10): 1835. Published online 2023 Sep 22. doi: 10.3390/genes14101835

PMCID:: PMC10606533

Abstract Article PDF–4.9M

Select item 106022946.

Dystonin modifiers of junctional epidermolysis bullosa and models of epidermolysis bullosa simplex without dystonia musculorum

Thomas J. Sproule, Robert Y. Wilpan, John J. Wilson, Benjamin E. Low, Yudai Kabata, Tatsuo Ushiki, Riichiro Abe, Michael V. Wiles, Derry C. Roopenian, John P. Sundberg

PLoS One. 2023; 18(10): e0293218. Published online 2023 Oct 26. doi: 10.1371/journal.pone.0293218

PMCID:: PMC10602294

Abstract Article PDF–9.0M

Select item 105532177.

Functional analysis of Collagen 17a1: A genetic modifier of junctional epidermolysis bullosa in mice

Thomas J. Sproule, Robert Y. Wilpan, Benjamin E. Low, Kathleen A. Silva, Deepak Reyon, J. Keith Joung, Michael V. Wiles, Derry C. Roopenian, John P. Sundberg

PLoS One. 2023; 18(10): e0292456. Published online 2023 Oct 5. doi: 10.1371/journal.pone.0292456

PMCID:: PMC10553217

Abstract Article PDF–5.8M

Select item 103379718.

Seven naturally variant loci serve as genetic modifiers of Lamc2^jeb induced non-Herlitz junctional Epidermolysis Bullosa in mice

Thomas J. Sproule, Vivek M. Philip, Nabig A. Chaudhry, Derry C. Roopenian, John P. Sundberg

PLoS One. 2023; 18(7): e0288263. Published online 2023 Jul 12. doi: 10.1371/journal.pone.0288263

PMCID:: PMC10337971

Abstract Article PDF–3.7M

Select item 102168409.

Trametinib-Induced Epidermal Thinning Accelerates a Mouse Model of Junctional Epidermolysis Bullosa

Grace Tartaglia, Pyung Hun Park, Michael H. Alexander, Alexander Nyström, Joel Rosenbloom, Andrew P. South

Biomolecules. 2023 May; 13(5): 740. Published online 2023 Apr 25. doi: 10.3390/biom13050740

PMCID:: PMC10216840

Abstract Article PDF–5.9M

Select item 1015443010.

Phenotypic Variability in LAMA3-Associated Amelogenesis Imperfecta

Shih-Kai Wang, Hong Zhang, Yin-Lin Wang, Figen Seymen, Mine Koruyucu, James P. Simmer, Jan C.-C. Hu

Oral Dis. Author manuscript; available in PMC 2024 Mar 19.

Published in final edited form as: Oral Dis. 2023 Nov; 29(8): 3514–3524. Published online 2022 Nov 16. doi: 10.1111/odi.14425

PMCID:: PMC10154430

Abstract Article PDF–1.1M

Select item 1004906111.

A Novel Fluorescence-Based Screen of Gene Editing Molecules for Junctional Epidermolysis Bullosa

Janine Zwicklhuber, Thomas Kocher, Bernadette Liemberger, Stefan Hainzl, Johannes Bischof, Dirk Strunk, Anna M. Raninger, Iris Gratz, Verena Wally, Christina Guttmann-Gruber, Josefina Piñón Hofbauer, Johann W. Bauer, Ulrich Koller

Int J Mol Sci. 2023 Mar; 24(6): 5197. Published online 2023 Mar 8. doi: 10.3390/ijms24065197

PMCID:: PMC10049061

Abstract Article PDF–3.8M

Select item 979565112.

Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients

Wei-Ting Tu, Ping-Chen Hou, Peng-Chieh Chen, Wan-Rung Chen, Hsin-Yu Huang, Jing-Yu Wang, Yi-Ting Huang, Yi-Huei Wu, Chun-Lin Su, Yen-An Tang, Hiroaki Iwata, Ken Natsuga, Sheau-Chiou Chao, H. Sunny Sun, Ming-Jer Tang, Julia Yu-Yun Lee, John A. McGrath, Chao-Kai Hsu

Orphanet J Rare Dis. 2022; 17: 451. Published online 2022 Dec 28. doi: 10.1186/s13023-022-02605-1

PMCID:: PMC9795651

Abstract Article PDF–5.8M

Select item 941378113.

Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases

Yueqian YU, Zhenzhen WANG, Zihao MI, Lele SUN, Xi’an FU, Gongqi YU, Zheng PANG, Hong LIU, Furen ZHANG

Acta Derm Venereol. 2021; 101(7): 132. Published online 2021 Jul 15. doi: 10.2340/00015555-3843

PMCID:: PMC9413781

Abstract Article PDF–1.2M

Select item 937231114.

Paired nicking-mediated COL17A1 reframing for junctional epidermolysis bullosa

Johannes Bischof, Oliver Patrick March, Bernadette Liemberger, Simone Alexandra Haas, Stefan Hainzl, Igor Petković, Victoria Leb-Reichl, Julia Illmer, Evgeniia Korotchenko, Alfred Klausegger, Anna Hoog, Heide-Marie Binder, Marta Garcia, Blanca Duarte, Dirk Strunk, Fernando Larcher, Julia Reichelt, Christina Guttmann-Gruber, Verena Wally, Josefina Piñón Hofbauer, Johann Wolfgang Bauer, Toni Cathomen, Thomas Kocher, Ulrich Koller

Mol Ther. 2022 Aug 3; 30(8): 2680–2692. Published online 2022 Apr 30. doi: 10.1016/j.ymthe.2022.04.020