Mutations in the transporter ABCA12 are associated with lamellar ichthyosis type 2
Caroline Lefèvre,Stéphanie Audebert,Florence Jobard,Bakar Bouadjar,Hakima Lakhdar,Omar Boughdene-Stambouli,Claudine Blanchet-Bardon,Roland Heilig,Mario Foglio,Jean Weissenbach,Mark Lathrop,Jean-François Prud'homme,Judith Fischer +12 more
TLDR
The identification of five missense mutations in the ABCA12 gene in nine families from Africa affected by LI2 are reported, which are localized in the first ATP-binding domain (nucleotide-binding fold), which is highly conserved in all ABC proteins.Abstract:
Lamellar ichthyosis type 2 (LI2) is a rare autosomal recessive skin disorder for which a gene has been localized on chromosome 2q33–35. We report the identification of five missense mutations in the ABCA12 gene in nine families from Africa affected by LI2. The mutations were homozygous in eight consanguineous families and heterozygous in one non-consanguineous family. Four of these mutations are localized in the first ATP-binding domain (nucleotide-binding fold), which is highly conserved in all ABC proteins. The ABCA12 protein belongs to a superfamily of membrane proteins that translocate a variety of substrates across extra- and intracellular membranes. ABCA transporters have been implicated in several autosomal recessive disorders, notably of lipid metabolism. By analogy with ABCA3, a lamellar body membrane protein in lung alveolar type II cells, ABCA12 could function in cellular lipid trafficking in keratinocytes.read more
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The cornified envelope: a model of cell death in the skin
TL;DR: New insights into the molecular mechanisms and the physiological endpoints of cornification are increasing the understanding of the pathological defects of this unique form of programmed cell death, which is associated with barrier malfunctions and ichthyosis.
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Revised nomenclature and classification of inherited ichthyoses: Results of the First Ichthyosis Consensus Conference in Sorèze 2009
Vinzenz Oji,Gianluca Tadini,Masashi Akiyama,Claudine Blanchet Bardon,Christine Bodemer,Emmanuelle Bourrat,Philippe Coudiere,John J. DiGiovanna,Peter M. Elias,Judith Fischer,Philip Fleckman,Michal Gina,John I. Harper,Takashi Hashimoto,Ingrid Hausser,Hans Christian Hennies,Daniel Hohl,Alain Hovnanian,Alain Hovnanian,Akemi Ishida-Yamamoto,W. K. Jacyk,Sancy A. Leachman,Irene M. Leigh,Juliette Mazereeuw-Hautier,Leonard M. Milstone,Fanny Morice-Picard,Amy S. Paller,Gabriele Richard,Matthias Schmuth,Matthias Schmuth,Hiroshi Shimizu,Eli Sprecher,Maurice A.M. van Steensel,Alain Taieb,Jorge R. Toro,Pierre Vabres,Anders Vahlquist,Mary L. Williams,Heiko Traupe +38 more
TL;DR: An international consensus is achieved for the classification of inherited ichthyosis that should be useful for all clinicians and can serve as reference point for future research.
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Epidermal barrier formation and recovery in skin disorders
TL;DR: The molecular regulation of the epidermal barrier as well as causes and potential treatments for defects of barrier formation are discussed and it is proposed that medical management of barrier disruption may positively affect the course of common skin disorders.
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The important role of stratum corneum lipids for the cutaneous barrier function
TL;DR: An overview of the reported SC lipid composition and organization mainly focusing on healthy and diseased human skin is provided and an overview on the relation between lipid modulations and the impaired skin barrier function is provided.
References
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TL;DR: Two Tangier disease families are identified, confirmed 9q31 linkage and the disease locus is refined to a limited genomic region containing the gene encoding the ATP-binding cassette transporter (ABC1), indicating that TD and FHA are allelic.
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