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Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment
Author / Creator:Vahlquist, Anders ; Fischer, Judith ; Törmä, Hans
Publisher:Cham: Springer International Publishing
Journal title:American journal of clinical dermatology, 2018-02, Vol.19 (1), p.51-66
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Keratitis-Ichthyosis-Deafness Syndrome-Associated Cx26 Mutants Produce Nonfunctional Gap Junctions but Hyperactive Hemichannels When Co-Expressed With Wild Type Cx43
Author / Creator:García, Isaac E. ; Maripillán, Jaime ; Jara, Oscar ; Ceriani, Ricardo ; Palacios-Muñoz, Angelina ; Ramachandran, Jayalakshmi ; Olivero, Pablo ; Perez-Acle, Tomas ; González, Carlos ; Sáez, Juan C. ; Contreras, Jorge E. ; Martínez, Agustín D.
Publisher:United States: Elsevier Inc
Journal title:Journal of investigative dermatology, 2015-05, Vol.135 (5), p.1338-1347
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A case of self-improving collodion ichthyosis associated with a rare variant of the ALOX12B gene
Author / Creator:Amoedo, P ; Cerejeira, A ; Pacheco, J ; Cruz, M J ; Mota, A
Publisher:United States: University of California Digital Library - eScholarship
Journal title:Dermatology online journal, 2023-02, Vol.29 (1)
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Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKV...
Author / Creator:Terrinoni, Alessandro ; Sala, Gabriele ; Bruno, Ernesto ; Pitolli, Consuelo ; Minieri, Marilena ; Pieri, Massimo ; Gambacurta, Alessandra ; Campione, Elena ; Belardi, Riccardo ; Bernardini, Sergio
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2023-09, Vol.24 (18), p.13962
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Ichthyosis
Author / Creator:Gutiérrez-Cerrajero, Carlos ; Sprecher, Eli ; Paller, Amy S. ; Akiyama, Masashi ; Mazereeuw-Hautier, Juliette ; Hernández-Martín, Angela ; González-Sarmiento, Rogelio
Publisher:London: Nature Publishing Group UK
Journal title:Nature reviews. Disease primers, 2023-01, Vol.9 (1), p.2-2, Article 2
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PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis
Author / Creator:Shamseldin, Hanan E. ; Derar, Nada ; Alzaidan, Hamad ; AlHathal, Naif ; Alfalah, Abdullah ; Abdulwahab, Firdous ; Alzaid, Tariq ; Alkeraye, Salim ; Alobaida, Saud A. ; Alkuraya, Fowzan S.
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Human genetics, 2023-04, Vol.142 (4), p.477-482
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Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes
Author / Creator:Youssefian, Leila ; Vahidnezhad, Hassan ; Saeidian, Amir Hossein ; Sotoudeh, Soheila ; Mahmoudi, Hamidreza ; Daneshpazhooh, Maryam ; Aghazadeh, Nessa ; Adams, Rebecca ; Ghanadan, Alireza ; Zeinali, Sirous ; Fortina, Paolo ; Uitto, Jouni
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2017-11, Vol.25 (11), p.1282-1285
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Skin permeability barrier formation by the ichthyosis-causative gene FATP4 through formation of the barrier lipid ω-O-acylceramide
Author / Creator:Yamamoto, Haruka ; Hattori, Miku ; Chamulitrat, Walee ; Ohno, Yusuke ; Kihara, Akio
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2020-02, Vol.117 (6), p.2914-2922
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Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis
Author / Creator:Nesin, Vasyl ; Wiley, Graham ; Kousi, Maria ; Ong, E-Ching ; Lehmann, Thomas ; Nicholl, David J. ; Suri, Mohnish ; Shahrizaila, Nortina ; Katsanis, Nicholas ; Gaffney, Patrick M. ; Wierenga, Klaas J. ; Tsiokas, Leonidas
Publisher:United States: National Academy of Sciences
Journal title:Proceedings of the National Academy of Sciences - PNAS, 2014-03, Vol.111 (11), p.4197-4202
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New developments in the molecular treatment of ichthyosis: review of the literature
Author / Creator:Joosten, M D W ; Clabbers, J M K ; Jonca, N ; Mazereeuw-Hautier, J ; Gostyński, A H
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2022-07, Vol.17 (1), p.269-269, Article 269
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Alitretinoin reduces erythema in inherited ichthyosis
Author / Creator:Onnis, Giuliana ; Chiaverini, Christine ; Hickman, Geoffroy ; Dreyfus, Isabelle ; Fischer, Judith ; Bourrat, Emmanuelle ; Mazereeuw-Hautier, Juliette
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2018-04, Vol.13 (1), p.46-46, Article 46
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Interhelical interactions within the STIM1 CC1 domain modulate CRAC channel activation
Author / Creator:Rathner, Petr ; Fahrner, Marc ; Cerofolini, Linda ; Grabmayr, Herwig ; Horvath, Ferdinand ; Krobath, Heinrich ; Gupta, Agrim ; Ravera, Enrico ; Fragai, Marco ; Bechmann, Matthias ; Renger, Thomas ; Luchinat, Claudio ; Romanin, Christoph ; Müller, Norbert
Publisher:New York: Nature Publishing Group US
Journal title:Nature chemical biology, 2021-02, Vol.17 (2), p.196-204
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De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy
Author / Creator:Mueller, Noomi ; Sassa, Takayuki ; Morales-Gonzalez, Susanne ; Schneider, Joanna ; Salchow, Daniel J ; Seelow, Dominik ; Knierim, Ellen ; Stenzel, Werner ; Kihara, Akio ; Schuelke, Markus
Publisher:England: BMJ Publishing Group LTD
Journal title:Journal of medical genetics, 2019-03, Vol.56 (3), p.164-175
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Aloxe3 Knockout Mice Reveal a Function of Epidermal Lipoxygenase-3 as Hepoxilin Synthase and Its Pivotal Role in Barrier Formation
Author / Creator:Krieg, Peter ; Rosenberger, Sabine ; de Juanes, Silvia ; Latzko, Susanne ; Hou, Jin ; Dick, Angela ; Kloz, Ulrich ; van der Hoeven, Frank ; Hausser, Ingrid ; Esposito, Irene ; Rauh, Manfred ; Schneider, Holm
Publisher:United States: Elsevier Inc
Journal title:Journal of investigative dermatology, 2013-01, Vol.133 (1), p.172-180
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A Novel Claudinopathy Based on Claudin-10 Mutations
Author / Creator:Milatz, Susanne
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2019-10, Vol.20 (21), p.5396
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Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings
Author / Creator:Wertheim-Tysarowska, Katarzyna ; Osipowicz, Katarzyna ; Woźniak, Katarzyna ; Sawicka, Justyna ; Mika, Adrianna ; Kutkowska-Kaźmierczak, Anna ; Niepokój, Katarzyna ; Sobczyńska-Tomaszewska, Agnieszka ; Wawrzycki, Bartłomiej ; Pietrzak, Aldona ; Śmigiel, Robert ; Wojtaś, Bartosz ; Gielniewski, Bartłomiej ; Szabelska-Beresewicz, Alicja ; Zyprych-Walczak, Joanna ; Rygiel, Agnieszka Magdalena ; Domaszewicz, Alicja ; Braun-Walicka, Natalia ; Grabarczyk, Alicja ; Rzońca-Niewczas, Sylwia ; Lidia, Ruszkowska ; Dawidziuk, Mateusz ; Domański, Dominik ; Gambin, Tomasz ; Jackiewicz, Monika ; Duk, Katarzyna ; Dorożko, Barbara ; Szczygielski, Orest ; Krześniak, Natalia ; Noszczyk, Bartłomiej H ; Obersztyn, Ewa ; Wierzba, Jolanta ; Barczyk, Artur ; Castaneda, Jennifer ; Eckersdorf-Mastalerz, Anna ; Jakubiuk-Tomaszuk, Anna ; Własienko, Paweł ; Jaszczuk, Ilona ; Jezela-Stanek, Aleksandra ; Klapecki, Jakub ; van Geel, Michel ; Kowalewski, Cezary ; Bal, Jerzy ; Gostyński, Antoni
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-11, Vol.19 (1), p.413-14, Article 413
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Current Strategies for the Gene Therapy of Autosomal Recessive Congenital Ichthyosis and Other Types of Inherited Ichthyosis
Author / Creator:Chulpanova, Daria S ; Shaimardanova, Alisa A ; Ponomarev, Aleksei S ; Elsheikh, Somaia ; Rizvanov, Albert A ; Solovyeva, Valeriya V
Publisher:Switzerland: MDPI AG
Journal title:International journal of molecular sciences, 2022-02, Vol.23 (5), p.2506
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A dual mechanism promotes switching of the Stormorken STIM1 R304W mutant into the activated state
Author / Creator:Fahrner, Marc ; Stadlbauer, Michael ; Muik, Martin ; Rathner, Petr ; Stathopulos, Peter ; Ikura, Mitsu ; Müller, Norbert ; Romanin, Christoph
Publisher:London: Nature Publishing Group UK
Journal title:Nature communications, 2018-02, Vol.9 (1), p.825-12, Article 825
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Genotypic and Clinical Spectrum of Self-Improving Collodion Ichthyosis: ALOX12B, ALOXE3, and TGM1 Mutations in Scandinavian Patients
Author / Creator:Vahlquist, Anders ; Bygum, Anette ; Gånemo, Agneta ; Virtanen, Marie ; Hellström-Pigg, Maritta ; Strauss, Gitte ; Brandrup, Flemming ; Fischer, Judith
Publisher:New York, NY: Elsevier Inc
Journal title:Journal of investigative dermatology, 2010-02, Vol.130 (2), p.438-443
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Inherited ichthyoses/generalized Mendelian disorders of cornification
Author / Creator:Schmuth, Matthias ; Martinz, Verena ; Janecke, Andreas R ; Fauth, Christine ; Schossig, Anna ; Zschocke, Johannes ; Gruber, Robert
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2013-02, Vol.21 (2), p.123-133
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Inherited Nonsyndromic Ichthyoses: An Update on Pathophysiology, Diagnosis and Treatment

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Keratitis-Ichthyosis-Deafness Syndrome-Associated Cx26 Mutants Produce Nonfunctional Gap Junctions but Hyperactive Hemichannels When Co-Expressed With Wild Type Cx43

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A case of self-improving collodion ichthyosis associated with a rare variant of the ALOX12B gene

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Partial Loss of Function ABCA12 Mutations Generate Reduced Deposition of Glucosyl-Ceramide, Leading to Patchy Ichthyosis and Erythrodermia Resembling Erythrokeratodermia Variabilis et Progressiva (EKV...

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Ichthyosis

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PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis

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Autosomal recessive congenital ichthyosis: CERS3 mutations identified by a next generation sequencing panel targeting ichthyosis genes

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Skin permeability barrier formation by the ichthyosis-causative gene FATP4 through formation of the barrier lipid ω-O-acylceramide

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Activating mutations in STIM1 and ORAI1 cause overlapping syndromes of tubular myopathy and congenital miosis

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

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Alitretinoin reduces erythema in inherited ichthyosis

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Interhelical interactions within the STIM1 CC1 domain modulate CRAC channel activation

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De novo mutation in ELOVL1 causes ichthyosis, acanthosis nigricans, hypomyelination, spastic paraplegia, high frequency deafness and optic atrophy

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Aloxe3 Knockout Mice Reveal a Function of Epidermal Lipoxygenase-3 as Hepoxilin Synthase and Its Pivotal Role in Barrier Formation

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A Novel Claudinopathy Based on Claudin-10 Mutations

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Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings

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

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A dual mechanism promotes switching of the Stormorken STIM1 R304W mutant into the activated state

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Genotypic and Clinical Spectrum of Self-Improving Collodion Ichthyosis: ALOX12B, ALOXE3, and TGM1 Mutations in Scandinavian Patients

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Inherited ichthyoses/generalized Mendelian disorders of cornification

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