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Items: 1 to 20 of 500

1.
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
ArticlePDF–585K
2.
Altered oral microbiome, but normal human papilloma virus prevalence in cartilage-hair hypoplasia patients
Heidi Arponen, Svetlana Vakkilainen, Natalie Tomnikov, Teemu Kallonen, Steffi Silling, Outi Mäkitie, Jaana Rautava
Orphanet J Rare Dis. 2024; 19: 169. Published online 2024 Apr 18. doi: 10.1186/s13023-024-03164-3
PMCID:
PMC11027548
ArticlePDF–1.7M
3.
Outbreak of Mycobacterium chelonae Infection Associated with Tattoo Ink
Byron S. Kennedy, Brenden Bedard, Mary Younge, Deborah Tuttle, Eric Ammerman, John Ricci, Andrew S. Doniger, Vincent E. Escuyer, Kara Mitchell, Judith A. Noble-Wang, Heather A. O’Connell, William A. Lanier, Linda M. Katz, Robert F. Betts, Mary Gail Mercurio, Glynis A. Scott, Matthew A. Lewis, Mark H. Goldgeier
N Engl J Med. Author manuscript; available in PMC 2024 Mar 28.
Published in final edited form as: N Engl J Med. 2012 Sep 13; 367(11): 1020–1024. Published online 2012 Aug 22. doi: 10.1056/NEJMoa1205114
PMCID:
PMC10973765
ArticlePDF–132K
4.
Dysregulation of Grainyhead‐like 3 expression causes widespread developmental defects
Zihao Deng, Tariq Butt, Benedicta D. Arhatari, Charbel Darido, Alana Auden, Dijina Swaroop, Darren D. Partridge, Katharina Haigh, Thao Nguyen, Jody J. Haigh, Marina R. Carpinelli, Stephen M. Jane
Dev Dyn. 2023 May; 252(5): 647–667. Published online 2023 Jan 19. doi: 10.1002/dvdy.565
PMCID:
PMC10952483
ArticlePDF–23M
5.
EBS in Children with De Novo Pathogenic Variants Disturbing Krt14
Anastasiya V. Kosykh, Irina I. Ryumina, Alexandra S. Botkina, Nadezhda A. Evtushenko, Elena B. Zhigmitova, Aleksandra A. Martynova, Nadya G. Gurskaya, Denis V. Rebrikov
Int J Mol Sci. 2024 Mar; 25(5): 2989. Published online 2024 Mar 4. doi: 10.3390/ijms25052989
PMCID:
PMC10931735
ArticlePDF–2.9M
6.
Anticipation and Verification of Dendrobium-Derived Nanovesicles for Skin Wound Healing Targets, Predicated Upon Immune Infiltration and Senescence
Jin Tu, Feng Jiang, Jieni Fang, Luhua Xu, Zhicong Zeng, Xuanyue Zhang, Li Ba, Hanjiao Liu, Fengxia Lin
Int J Nanomedicine. 2024; 19: 1629–1644. Published online 2024 Feb 20. doi: 10.2147/IJN.S438398
PMCID:
PMC10893893
ArticlePDF–12M
7.
Emerging Gene Therapeutics for Epidermolysis Bullosa under Development
Johannes Bischof, Markus Hierl, Ulrich Koller
Int J Mol Sci. 2024 Feb; 25(4): 2243. Published online 2024 Feb 13. doi: 10.3390/ijms25042243
PMCID:
PMC10889532
ArticlePDF–1.4M
8.
KCTD1/KCTD15 complexes control ectodermal and neural crest cell functions, and their impairment causes aplasia cutis
Jackelyn R. Raymundo, Hui Zhang, Giovanni Smaldone, Wenjuan Zhu, Kathleen E. Daly, Benjamin J. Glennon, Giovanni Pecoraro, Marco Salvatore, William A. Devine, Cecilia W. Lo, Luigi Vitagliano, Alexander G. Marneros
J Clin Invest. 2024 Feb 15; 134(4): e174138. Published online 2023 Dec 19. doi: 10.1172/JCI174138
PMCID:
PMC10866662
ArticlePDF–143M
9.
Molecular Genetic Characteristics of the Hoxc13 Gene and Association Analysis of Wool Traits
Hongxian Sun, Zhaohua He, Fangfang Zhao, Jiang Hu, Jiqing Wang, Xiu Liu, Zhidong Zhao, Mingna Li, Yuzhu Luo, Shaobin Li
Int J Mol Sci. 2024 Feb; 25(3): 1594. Published online 2024 Jan 27. doi: 10.3390/ijms25031594
PMCID:
PMC10855228
ArticlePDF–3.1M
10.
Thermal gradient ring for analysis of temperature-dependent behaviors involving TRP channels in mice
Tomoyo Ujisawa, Jing Lei, Makiko Kashio, Makoto Tominaga
J Physiol Sci. 2024; 74: 9. Published online 2024 Feb 8. doi: 10.1186/s12576-024-00903-w
PMCID:
PMC10851596
ArticlePDF–1.1M
11.
Splicing Modulation via Antisense Oligonucleotides in Recessive Dystrophic Epidermolysis Bullosa
Stefan Hainzl, Lisa Trattner, Bernadette Liemberger, Johannes Bischof, Thomas Kocher, Michael Ablinger, Alexander Nyström, Astrid Obermayer, Alfred Klausegger, Christina Guttmann-Gruber, Verena Wally, Johann W. Bauer, Josefina Piñón Hofbauer, Ulrich Koller
Int J Mol Sci. 2024 Jan; 25(2): 761. Published online 2024 Jan 7. doi: 10.3390/ijms25020761
PMCID:
PMC10815346
ArticlePDF–3.6M
12.
Dysregulation of extracellular matrix and Lysyl Oxidase in Ehlers-Danlos syndrome type IV skin fibroblasts
Reece Foehr, Keith Anderson, Owen Dombrowski, Anna Foehr, Erik D. Foehr
Orphanet J Rare Dis. 2024; 19: 9. Published online 2024 Jan 5. doi: 10.1186/s13023-023-03007-7
PMCID:
PMC10768281
ArticlePDF–1.2M
13.
New observation of severe tooth malformation in a female patient with ectodermal dysplasia due to the EDA splice acceptor variant c.742‐2A>G
Vivian Reinhold, Stina Syrjänen, Minna Kankuri‐Tammilehto
Mol Genet Genomic Med. 2023 Dec; 11(12): e2275. Published online 2023 Sep 4. doi: 10.1002/mgg3.2275
PMCID:
PMC10724520
ArticlePDF–902K
14.
Genome-wide association analysis unveils candidate genes and loci associated with aplasia cutis congenita in pigs
Fuchen Zhou, Shenghui Wang, Haojun Qin, Haiyu Zeng, Jian Ye, Jie Yang, Gengyuan Cai, Zhenfang Wu, Zebin Zhang
BMC Genomics. 2023; 24: 701. Published online 2023 Nov 21. doi: 10.1186/s12864-023-09803-6
PMCID:
PMC10664689
ArticlePDF–4.3M
15.
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
ArticlePDF–4.9M
16.
STS and PUDP Deletion Identified by Targeted Panel Sequencing with CNV Analysis in X-Linked Ichthyosis: A Case Report and Literature Review
Joonhong Park, Yong Gon Cho, Jin Kyu Kim, Hyun Ho Kim
Genes (Basel) 2023 Oct; 14(10): 1925. Published online 2023 Oct 10. doi: 10.3390/genes14101925
PMCID:
PMC10606178
ArticlePDF–2.0M
17.
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
ArticlePDF–9.0M
18.
Two- and three-dimensional sonographic findings of harlequin ichthyosis: case report and literature review
Zesi Liu, Chunli Jing
An Bras Dermatol. 2023 Nov-Dec; 98(6): 806–813. Published online 2023 Jun 22. doi: 10.1016/j.abd.2022.09.013
PMCID:
PMC10589490
ArticlePDF–2.0M
19.
Case report of self-improving collodion ichthyosis in the newborn
Suyue Zhu, Yazhou Jiang, Nan Shen, Hanjun Yin, Jibing Qiao
J Int Med Res. 2023 Oct; 51(10): 03000605231204491. Published online 2023 Oct 17. doi: 10.1177/03000605231204491
PMCID:
PMC10585991
ArticlePDF–657K
20.
Trichothiodystrophy hair shafts display distinct ultrastructural features
Angeliki-Diotima Ioannidis, Sikandar G. Khan, Deborah Tamura, John J. DiGiovanna, Elizabeth Rizza, Kenneth H. Kraemer, Robert H. Rice
Exp Dermatol. Author manuscript; available in PMC 2023 Oct 13.
Published in final edited form as: Exp Dermatol. 2022 Aug; 31(8): 1270–1275. Published online 2022 Jun 13. doi: 10.1111/exd.14614
PMCID:
PMC10575343
ArticlePDF–1.0M

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