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Select item 105859911.

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

Article PubReader PDF–657K Cite

Select item 105041042.

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

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Select item 102866433.

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

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Select item 102185094.

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

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Select item 102090185.

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

Article PubReader PDF–993K Cite

Select item 100485686.

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

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Select item 98662527.

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

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Select item 97036348.

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

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Select item 93802819.

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

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Select item 937541210.

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

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Select item 928790111.

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

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Select item 921030112.

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

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Select item 912896513.

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

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Select item 891035414.

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

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Select item 884896815.

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

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Select item 875329216.

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

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Select item 872901517.

Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation

Mariem Ennouri, Andreas D. Zimmer, Emna Bahloul, Rim Chaabouni, Slaheddine Marrakchi, Hamida Turki, Faiza Fakhfakh, Noura Bougacha-Elleuch, Judith Fischer

BMC Med Genomics. 2022; 15: 4. Published online 2022 Jan 5. doi: 10.1186/s12920-021-01154-z

PMCID:: PMC8729015

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Select item 855012018.

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

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Select item 852832119.

Expanding the clinical phenotype associated with NIPAL4 mutation: Study of a Tunisian consanguineous family with erythrokeratodermia variabilis—Like Autosomal Recessive Congenital Ichthyosis

Cherine Charfeddine, Nadia Laroussi, Rahma Mkaouar, Raja Jouini, Olfa Khayat, Aladin Redissi, Amor Mosbah, Hamza Dallali, Achraf Chedly Debbiche, Anissa Zaouak, Sami Fenniche, Sonia Abdelhak, Houda Hammami-Ghorbel

PLoS One. 2021; 16(10): e0258777. Published online 2021 Oct 20. doi: 10.1371/journal.pone.0258777

PMCID:: PMC8528321

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Select item 839110720.

Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome

Julia Kopp, Cristina Has, Alrun Hotz, Sarah C. Grünert, Judith Fischer

Genes (Basel) 2021 Aug; 12(8): 1164. Published online 2021 Jul 29. doi: 10.3390/genes12081164

PMCID:: PMC8391107

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