Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease - Wikidata - awgldk - TriplyDB

Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease

Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease

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Pemphigus vulgaris antibody identifies pemphaxin. A novel keratinocyte annexin-like molecule binding acetylcholine Functional expression in yeast of the human secretory pathway Ca(2+), Mn(2+)-ATPase defective in Hailey-Hailey disease Substrate specificity, membrane topology, and activity regulation of human alkaline ceramidase 2 (ACER2)Effect of Hailey-Hailey Disease mutations on the function of a new variant of human secretory pathway Ca2+/Mn2+-ATPase (hSPCA1)SLC24A5 encodes a trans-Golgi network protein with potassium-dependent sodium-calcium exchange activity that regulates human epidermal melanogenesis Functional comparison between secretory pathway Ca2+/Mn2+-ATPase (SPCA) 1 and sarcoplasmic reticulum Ca2+-ATPase (SERCA) 1 isoforms by steady-state and transient kinetic analyses Newly characterized Golgi-localized family of proteins is involved in calcium and pH homeostasis in yeast and human cells How do keratinizing disorders and blistering disorders overlap?TRP Channels in Skin Biology and Pathophysiology ATP2C1 gene mutations in Hailey-Hailey disease and possible roles of SPCA1 isoforms in membrane trafficking "Manganese-induced neurotoxicity: a review of its behavioral consequences and neuroprotective strategies"Manganese homeostasis in the nervous system Mutation analysis of ATP2C1 gene in Taiwanese patients with Hailey-Hailey disease Acidic calcium stores open for business: expanding the potential for intracellular Ca2+ signaling Marked disturbance of calcium homeostasis in mice with targeted disruption of the Trpv6 calcium channel gene Characterization of Cos-7 cells overexpressing the rat secretory pathway Ca2+-ATPase Gene knockout studies of Ca2+-transporting ATPases Two patients with Hailey-Hailey disease, multiple primary melanomas, and other cancers.The Concise Guide to PHARMACOLOGY 2013/14: transporters.Unique characteristics of Ca2+ homeostasis of the trans-Golgi compartment.Intracutaneous botulinum toxin A versus ablative therapy of Hailey-Hailey disease--a case report.Upregulation of P-cadherin expression in the lesional skin of pemphigus, Hailey-Hailey disease and Darier's disease.The Golgi PMR1 P-type ATPase of Caenorhabditis elegans. Identification of the gene and demonstration of calcium and manganese transport.Immunohistological study of involucrin expression in Darier's disease skin.[Familial benign chronic pemphigus (Hailey-Hailey disease): successful treatment with carbon dioxide laser].Apoptosis-linked gene-2 (ALG-2)/Sec31 interactions regulate endoplasmic reticulum (ER)-to-Golgi transport: a potential effector pathway for luminal calcium Keratinocyte adhesion and the missing link: from Dowling-Meara to Hay-Wells. St John's Hospital Dermatological Society Annual Oration 2000.Desmosomes: structure and function in normal and diseased epidermis.The genetics of human skin disease.Desmosome assembly and dynamics Laser therapy for Hailey-Hailey disease: review of the literature and a case report Combined therapeutic use of oral alitretinoin and narrowband ultraviolet-B therapy in the treatment of hailey-hailey disease Pemphigus vulgaris autoantibody profiling by proteomic technique.Efficacy of the melanocortin analogue Nle4-D-Phe7-α-melanocyte-stimulating hormone in the treatment of patients with Hailey-Hailey disease.The secretory pathway calcium ATPase PMR-1/SPCA1 has essential roles in cell migration during Caenorhabditis elegans embryonic development.Calcium regulation in photoreceptors.Plasma membrane Ca-ATPases in the nervous system during development and ageing Mechanisms of desmosome assembly and disassembly.PMR1/SPCA Ca2+ pumps and the role of the Golgi apparatus as a Ca2+ store.Mathematical modeling of calcium waves induced by mechanical stimulation in keratinocytes.

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Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease

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2000 nî lūn-bûn

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2000 թուականի Յունուարին հրատարակուած գիտական յօդուած

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2000 թվականի հունվարին հրատարակված գիտական հոդված

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2000年の論文

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Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease

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Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease

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Mutations in ATP2C1, encoding a calcium pump, cause Hailey-Hailey disease

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Nature Genetics

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E H Epstein

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P2860

Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease

PMR1, a Ca2+-ATPase in yeast Golgi, has properties distinct from sarco/endoplasmic reticulum and plasma membrane calcium pumps.

The yeast Ca(2+)-ATPase homologue, PMR1, is required for normal Golgi function and localizes in a novel Golgi-like distribution.

Localization of the gene whose mutations underlie Hailey-Hailey disease to chromosome 3q

Identification of mutations in the human PATCHED gene in sporadic basal cell carcinomas and in patients with the basal cell nevus syndrome

Depletion of manganese within the secretory pathway inhibits O-linked glycosylation in mammalian cells.

Molecular cloning and tissue distribution of alternatively spliced mRNAs encoding possible mammalian homologues of the yeast secretory pathway calcium pump.

A novel, rapid method for the isolation of terminal sequences from yeast artificial chromosome (YAC) clones.

Compartmentalization of calcium extrusion mechanisms in the outer and inner segments of photoreceptors

Cellular copper transport.

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10.1038/71701

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10615129

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ATPase secretory pathway Ca2+ transporting 1