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

Autor: 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

Publikováno v: Genes; Volume 14; Issue 3; Pages: 717

Autosomal recessive congenital ichthyosis (ARCI) is a non-syndromic congenital disorder of cornification characterized by abnormal scaling of the skin. The three major phenotypes are lamellar ichthyosis, congenital ichthyosiform erythroderma, and har

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::08ceb954c6fb55ef6956af857e5515ab

Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients

Autor: Julia Kopp, Peter C. van den Akker, Matthias Schmuth, Zhou Yang, Angela Hernández-Martín, Bakar Bouadjar, Anette Bygum, Katariina Hannula-Jouppi, Maria C. Bolling, Svenja Alter, Iliana Tantcheva-Poor, Emmanuelle Bourrat, Anders Vahlquist, Juliette Mazereeuw-Hautier, Andreas Zimmer, Kathrin A. Giehl, Regina C. Betz, Gianluca Tadini, Sophie Guez, Alrun Hotz, Robert Gruber, Maritta Hellström Pigg, Cristina Has, Judith Fischer, Michela Brena, Katalin Komlosi, Vinzenz Oji, Natalie Jonca, A.D. Irvine, Kira Süßmuth, Giovanna Zambruno

Publikováno v: Genes
Hotz, A, Kopp, J, Bourrat, E, Oji, V, Komlosi, K, Giehl, K, Bouadjar, B, Bygum, A, Tantcheva-Poor, I, Hellström Pigg, M, Has, C, Yang, Z, Irvine, A D, Betz, R C, Zambruno, G, Tadini, G, Süßmuth, K, Gruber, R, Schmuth, M, Mazereeuw-Hautier, J, Jonca, N, Guez, S, Brena, M, Hernandez-Martin, A, van den Akker, P, Bolling, M C, Hannula-Jouppi, K, Zimmer, A D, Alter, S, Vahlquist, A & Fischer, J 2021, ' Meta-Analysis of Mutations in ALOX12B or ALOXE3 Identified in a Large Cohort of 224 Patients ', Genes, vol. 12, no. 1, 80 . https://doi.org/10.3390/genes12010080
Genes, 12(1):80. MDPI AG
Genes, Vol 12, Iss 80, p 80 (2021)
Volume 12
Issue 1

The autosomal recessive congenital ichthyoses (ARCI) are a nonsyndromic group of cornification disorders that includes lamellar ichthyosis, congenital ichthyosiform erythroderma, and harlequin ichthyosis. To date mutations in ten genes have been iden

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49cb20b2ae1a8de6a5b6714d6477525f
http://europepmc.org/articles/PMC7826849

Whole-Exome-Sequencing Reveals Small Deletions in CASP14 in Patients with Autosomal Recessive Inherited Ichthyosis

Autor: Bakar Bouadjar, Bernd Rösler, Andreas Zimmer, Judith Fischer, Peter Kirchmeier

Publikováno v: Acta dermato-venereologica. 97(1)

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4da7af0bba25227d46b38df88b6cce13
https://pubmed.ncbi.nlm.nih.gov/27494380

Novel Mutations in ALOX12B in Patients with Autosomal Recessive Congenital Ichthyosis and Evidence for Genetic Heterogeneity on Chromosome 17p13

Autor: Bakar Bouadjar, Judith Fischer, Ayşen Karaduman, Florence Jobard, Caroline Lefèvre, Fabienne Lesueur, Stéphanie Audebert, Hakima Lakhdar, Safa Saker, Ludovic Martin, Mark Lathrop, Gianluca Tadini, Serap Emre

Publikováno v: Journal of Investigative Dermatology. 127:829-834

We report clinical and molecular findings in 20 patients from 11 families with autosomal recessive congenital ichthyosis (ARCI) linked to chromosome 17p13, and attributed to mutations in the ALOX gene cluster, which includes three lipoxygenase genes,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c38319a0f8be29361aef6b43af85591f
https://doi.org/10.1038/sj.jid.5700640

Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome

Autor: Christina Has, Bakar Bouadjar, Jean François Prud'homme, Jean Weissenbach, Judith Fischer, Smail Hadj-Rabia, Fumi Matsuda, Mark Lathrop, Frédéric Caux, Florence Jobard

Publikováno v: Human Molecular Genetics. 12:925-935

Kindler syndrome is a rare autosomal-recessive genodermatosis characterized by bullous poikiloderma with photosensitivity. We report the localization to chromosome 20p12.3 by homozygosity mapping and the identification of a new gene, which we propose

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7c7b06e33287488176a4749aab5eedde
https://doi.org/10.1093/hmg/ddg097