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Select item 111684491.

Cross-Sectional Study on Autosomal Recessive Congenital Ichthyoses: Association of Genotype with Disease Severity, Phenotypic, and Ultrastructural Features in 74 Italian Patients

Andrea Diociaiuti, Marialuisa Corbeddu, Sabrina Rossi, Elisa Pisaneschi, Claudia Cesario, Angelo Giuseppe Condorelli, Tonia Samela, Simona Giancristoforo, Adriano Angioni, Giovanna Zambruno, Antonio Novelli, Rita Alaggio, Damiano Abeni, May El Hachem

Dermatology. 2024 Jun; 240(3): 397–413. Published online 2024 Apr 8. doi: 10.1159/000536366

PMCID:: PMC11168449

Abstract Article

Select item 109700992.

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

Abstract Article PDF–452K

Select item 107245183.

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

Abstract Article PDF–2.2M

Select item 106551744.

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

Abstract Article PDF–12M

Select item 105859915.

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

Abstract Article PDF–657K

Select item 105041046.

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

Abstract Article PDF–964K

Select item 102866437.

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

Abstract Article PDF–1.6M

Select item 102185098.

Netherton Syndrome Caused by Heterozygous Frameshift Mutation Combined with Homozygous c.1258A>G Polymorphism in SPINK5 Gene

Chiara Moltrasio, Maurizio Romagnuolo, Davide Riva, Davide Colavito, Silvia Mariel Ferrucci, Angelo Valerio Marzano, Gianluca Tadini, Michela Brena

Genes (Basel) 2023 May; 14(5): 1080. Published online 2023 May 14. doi: 10.3390/genes14051080

PMCID:: PMC10218509

Abstract Article PDF–3.0M

Select item 102090189.

Recombinant PNPLA1 catalyzes the synthesis of acylceramides and acyl acids with selective incorporation of linoleic acid

Jason M. Meyer, William E. Boeglin, Alan R. Brash

J Lipid Res. 2023 Jun; 64(6): 100379. Published online 2023 Apr 21. doi: 10.1016/j.jlr.2023.100379

PMCID:: PMC10209018

Abstract Article PDF–993K

Select item 1004856810.

Mutational Spectrum of the ABCA12 Gene and Genotype–Phenotype Correlation in a Cohort of 64 Patients with Autosomal Recessive Congenital Ichthyosis

Alrun Hotz, Julia Kopp, Emmanuelle Bourrat, Vinzenz Oji, Kira Süßmuth, Katalin Komlosi, Bakar Bouadjar, Iliana Tantcheva-Poór, Maritta Hellström Pigg, Regina C. Betz, Kathrin Giehl, Fiona Schedel, Lisa Weibel, Solveig Schulz, Dora V. Stölzl, Gianluca Tadini, Emine Demiral, Karin Berggard, Andreas D. Zimmer, Svenja Alter, Judith Fischer

Genes (Basel) 2023 Mar; 14(3): 717. Published online 2023 Mar 15. doi: 10.3390/genes14030717

PMCID:: PMC10048568

Abstract Article PDF–1.3M

Select item 986625211.

Identification and In Silico Analysis of a Homozygous Nonsense Variant in TGM1 Gene Segregating with Congenital Ichthyosis in a Consanguineous Family

Abdulhadi Almazroea, Ambreen Ijaz, Abdul Aziz, Muhammad Mushtaq Yasinzai, Rafiullah Rafiullah, Fazal Ur Rehman, Shakeela Daud, Rozeena Shaikh, Muhammad Ayub, Abdul Wali

Medicina (Kaunas) 2023 Jan; 59(1): 103. Published online 2023 Jan 2. doi: 10.3390/medicina59010103

PMCID:: PMC9866252

Abstract Article PDF–3.2M

Select item 970363412.

Ceramide Analysis in Combination With Genetic Testing May Provide a Precise Diagnosis for Self-Healing Collodion Babies

Takuya Takeichi, Yusuke Ohno, Kana Tanahashi, Yasutoshi Ito, Ken Shiraishi, Ryo Utsunomiya, Satoshi Yoshida, Kenta Ikeda, Hayato Nomura, Shin Morizane, Koji Sayama, Tomoo Ogi, Yoshinao Muro, Akio Kihara, Masashi Akiyama

J Lipid Res. 2022 Dec; 63(12): 100308. Published online 2022 Nov 1. doi: 10.1016/j.jlr.2022.100308

PMCID:: PMC9703634

Abstract Article PDF–2.3M

Select item 938028113.

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

Abstract Article PDF–582K

Select item 937541214.

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

Abstract Article PDF–1.2M

Select item 928790115.

New developments in the molecular treatment of ichthyosis: review of the literature

M. D. W. Joosten, J. M. K. Clabbers, N. Jonca, J. Mazereeuw-Hautier, A. H. Gostyński

Orphanet J Rare Dis. 2022; 17: 269. Published online 2022 Jul 15. doi: 10.1186/s13023-022-02430-6

PMCID:: PMC9287901

Abstract Article PDF–1.3M

Select item 921030116.

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

Abstract Article PDF–693K

Select item 912896517.

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

Abstract Article PDF–15M

Select item 891035418.

Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis

Daria S. Chulpanova, Alisa A. Shaimardanova, Aleksei S. Ponomarev, Somaia Elsheikh, Albert A. Rizvanov, Valeriya V. Solovyeva

Int J Mol Sci. 2022 Mar; 23(5): 2506. Published online 2022 Feb 24. doi: 10.3390/ijms23052506

PMCID:: PMC8910354

Abstract Article PDF–829K

Select item 884896819.

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

Abstract Article PDF–1.8M

Select item 875329220.

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

Abstract Article PDF–2.5M

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