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Items: 1 to 20 of 365

1.
Erythrokeratodermia Variabilis-like Phenotype in Patients Carrying ABCA12 Mutations
Alrun Hotz, Regina Fölster-Holst, Vinzenz Oji, Emmanuelle Bourrat, Jorge Frank, Slaheddine Marrakchi, Mariem Ennouri, Lotta Wankner, Katalin Komlosi, Svenja Alter, Judith Fischer
Genes (Basel) 2024 Mar; 15(3): 288. Published online 2024 Feb 24. doi: 10.3390/genes15030288
PMCID:
PMC10970099
ArticlePDF–452K
2.
Comparative analyses of Netherton syndrome patients and Spink5 conditional knock-out mice uncover disease-relevant pathways
Evgeniya Petrova, Jesús María López-Gay, Matthias Fahrner, Florent Leturcq, Jean-Pierre de Villartay, Claire Barbieux, Patrick Gonschorek, Lam C. Tsoi, Johann E. Gudjonsson, Oliver Schilling, Alain Hovnanian
Commun Biol. 2024; 7: 152. Published online 2024 Feb 5. doi: 10.1038/s42003-024-05780-y
PMCID:
PMC10844249
ArticlePDF–6.6M
3.
Comprehensive Analysis of the Complete Mitochondrial Genome of Rehmannia chingii: An Autotrophic Species in the Orobanchaceae Family
Ying Han, Yan-Lei Feng, Jie Wang, Shan-Shan Zhu, Xin-Jie Jin, Zhi-Qiang Wu, Yong-Hua Zhang
Genes (Basel) 2024 Jan; 15(1): 98. Published online 2024 Jan 15. doi: 10.3390/genes15010098
PMCID:
PMC10815111
ArticlePDF–4.1M
4.
HECTD3 inhibits NLRP3 inflammasome assembly and activation by blocking NLRP3-NEK7 interaction
Zhuo Cheng, Maobo Huang, Wei Li, Lei Hou, Li Jin, Qijin Fan, Linqiang Zhang, Chengbin Li, Li Zeng, Chuanyu Yang, Bin Liang, Fubing Li, Ceshi Chen
Cell Death Dis. 2024 Jan; 15(1): 86. Published online 2024 Jan 24. doi: 10.1038/s41419-024-06473-4
PMCID:
PMC10808187
ArticlePDF–3.7M
5.
Comprehensive modular analyses of scar subtypes illuminate underlying molecular mechanisms and potential therapeutic targets
Liang Liu, Lantian Lu, Min Qiu, Ning Han, Shijie Dai, Shuiping Shi, Shanshan He, Jing Zhang, Qingfeng Yan, Shuqing Chen
Int Wound J. 2024 Jan; 21(1): e14384. Published online 2023 Sep 11. doi: 10.1111/iwj.14384
PMCID:
PMC10784627
ArticlePDF–5.3M
6.
Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis
Fatima Alabdulrazzaq, Talal Alanzi, Haya H. Al‐Balool, Alice Gardham, Emma Wakeling, Harry G. Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H. Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frédéric M. Vaz, Aida M. Bertoli‐Avella, Dana Marafi
Mol Genet Genomic Med. 2023 Dec; 11(12): e2256. Published online 2023 Aug 18. doi: 10.1002/mgg3.2256
PMCID:
PMC10724518
ArticlePDF–2.2M
7.
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
ArticlePDF–12M
8.
Trichothiodystrophy‐associated MPLKIP maintains DBR1 levels for proper lariat debranching and ectodermal differentiation
Arjan F Theil, Alex Pines, Tuğba Kalayci, José M Heredia‐Genestar, Anja Raams, Marion H Rietveld, Sriram Sridharan, Sabine EJ Tanis, Klaas W Mulder, Nesimi Büyükbabani, Birsen Karaman, Zehra O Uyguner, Hülya Kayserili, Jan HJ Hoeijmakers, Hannes Lans, Jeroen AA Demmers, Joris Pothof, Umut Altunoglu, Abdoelwaheb El Ghalbzouri, Wim Vermeulen
EMBO Mol Med. 2023 Nov; 15(11): e17973. Published online 2023 Oct 6. doi: 10.15252/emmm.202317973
PMCID:
PMC10630875
ArticlePDF–3.9M
9.
Filaggrin gene variants among Saudi patients with ichthyosis vulgaris
Omar Mohammed Alakloby, Fatimah Almuqarrab, Johannes Zschocke, Mathias Schmuth, Adnan Abdulkareem, Kholood Alnutaifi, Francis Borgio, Robert Gruber, Hans Christian Hennies
BMC Med Genomics. 2023; 16: 256. Published online 2023 Oct 23. doi: 10.1186/s12920-023-01700-x
PMCID:
PMC10591457
ArticlePDF–1.1M
10.
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
11.
Type II bacterial toxin–antitoxins: hypotheses, facts, and the newfound plethora of the PezAT system
Wai Ting Chan, Maria Pilar Garcillán-Barcia, Chew Chieng Yeo, Manuel Espinosa
FEMS Microbiol Rev. 2023 Sep; 47(5): fuad052. Published online 2023 Sep 15. doi: 10.1093/femsre/fuad052
PMCID:
PMC10532202
ArticlePDF–2.5M
12.
Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKVP)
Alessandro Terrinoni, Gabriele Sala, Ernesto Bruno, Consuelo Pitolli, Marilena Minieri, Massimo Pieri, Alessandra Gambacurta, Elena Campione, Riccardo Belardi, Sergio Bernardini
Int J Mol Sci. 2023 Sep; 24(18): 13962. Published online 2023 Sep 11. doi: 10.3390/ijms241813962
PMCID:
PMC10530436
ArticlePDF–2.3M
13.
Phenotypic and Endotypic Determinants of Atopic Dermatitis Severity from the ADRN Registry
Eric L. Simpson, Anna De Benedetto, Mark Boguniewicz, Peck Y. Ong, Stephanie Lussier, Miguel Villarreal, Lynda C. Schneider, Amy S. Paller, Emma Guttman-Yassky, Jon M. Hanifin, Jonathan M. Spergel, Kathleen C. Barnes, Gloria David, Briahnna Austin, Donald Y.M. Leung, Lisa A. Beck
J Allergy Clin Immunol Pract. Author manuscript; available in PMC 2023 Sep 27.
Published in final edited form as: J Allergy Clin Immunol Pract. 2023 Aug; 11(8): 2504–2515. Published online 2023 May 12. doi: 10.1016/j.jaip.2023.04.052
PMCID:
PMC10524351
ArticlePDF–1.0M
14.
TMKit: a Python interface for computational analysis of transmembrane proteins
Jianfeng Sun, Arulsamy Kulandaisamy, Jinlong Ru, M Michael Gromiha, Adam P Cribbs
Brief Bioinform. 2023 Sep; 24(5): bbad288. Published online 2023 Aug 17. doi: 10.1093/bib/bbad288
PMCID:
PMC10516361
ArticlePDF–1.8M
15.
Ophthalmic findings in patients with autosomal recessive lamellar ichthyosis due to TGM1 mutations in an isolated population
Nicole Macriz-Romero, Guillermo Raul Vera-Duarte, Jesus Guerrero-Becerril, Oscar Francisco Chacón-Camacho, Mirena C Astiazarán, Juan Carlos Zenteno, Enrique O. Graue-Hernandez
Int Ophthalmol. 2023; 43(10): 3659–3665. Published online 2023 Aug 5. doi: 10.1007/s10792-023-02774-3
PMCID:
PMC10504104
ArticlePDF–964K
16.
CLINICAL AND GENETIC ANALYSIS OF LIPID STORAGE MYOPATHIES
AYA OHKUMA, SATORU NOGUCHI, HIDEO SUGIE, MAY CHRISTINE V. MALICDAN, TOKIKO FUKUDA, KUNIO SHIMAZU, LUIS CARLOS LÓPEZ, MICHIO HIRANO, YUKIKO K. HAYASHI, IKUYA NONAKA, ICHIZO NISHINO
Muscle Nerve. Author manuscript; available in PMC 2023 Aug 23.
Published in final edited form as: Muscle Nerve. 2009 Mar; 39(3): 333–342. doi: 10.1002/mus.21167
PMCID:
PMC10444629
ArticlePDF–2.2M
17.
Combined novel homozygous variants in both SGPL1 and STAT1 presenting with severe combined immune deficiency: case report and literature review
Adriel Roa-Bautista, Mahreen Sohail, Emma Wakeling, Kimberly C. Gilmour, Mark Davis, Anthony Gait, Giovanna Lucchini, David Cox, Reem Elfeky, Maaike Kusters
Front Immunol. 2023; 14: 1186575. Published online 2023 Jun 12. doi: 10.3389/fimmu.2023.1186575
PMCID:
PMC10291229
ArticlePDF–1.3M
18.
Child with a mild CHIME syndrome phenotype and carrying a novel p.(Asp52Asn) PIGL pathogenic variant in association with the previously reported p.(Leu167Pro) variant: A case report
Marion Rolland, Christèle Dubourg, Auriane Cospain, Catherine Droitcourt, Laurent Pasquier
Pediatr Dermatol. 2022 May-Jun; 39(3): 434–437. Published online 2022 Mar 8. doi: 10.1111/pde.14969
PMCID:
PMC10286643
ArticlePDF–1.6M
19.
Prominent corneal nerves in pure mucosal neuroma syndrome, a clinical phenotype distinct from multiple endocrine neoplasia type 2B
L Yin, YNZ Wang, J Zhu, CY Tan, C Sun, Y Yao
BMC Ophthalmol. 2023; 23: 260. Published online 2023 Jun 12. doi: 10.1186/s12886-023-03005-0
PMCID:
PMC10258932
ArticlePDF–2.1M
20.
Distinct skin microbiome community structures in congenital ichthyosis
Khek-Chian Tham, Rachel Lefferdink, Kaibo Duan, Seong Soo Lim, X F Colin C Wong, Erin Ibler, Benedict Wu, Hajar Abu-Zayed, Stephanie M Rangel, Ester Del Duca, Mashkura Chowdhury, Margot Chima, Hee Jee Kim, Bernett Lee, Emma Guttman-Yassky, Amy S Paller, John E A Common
Br J Dermatol. Author manuscript; available in PMC 2023 Oct 1.
Published in final edited form as: Br J Dermatol. 2022 Oct; 187(4): 557–570. Published online 2022 Jul 4. doi: 10.1111/bjd.21687
PMCID:
PMC10234690
ArticlePDF–1.3M

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