Oncostatin M Receptor-β Mutations Underlie Familial Primary Localized Cutaneous Amyloidosis
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چکیده
منابع مشابه
A Novel Missense Mutation in Oncostatin M Receptor Beta Causing Primary Localized Cutaneous Amyloidosis
Primary localized cutaneous amyloidosis (PLCA) is a chronic skin disorder, caused by amyloid material deposition in the upper dermis. Autosomal dominant PLCA has been mapped earlier to pathogenic missense mutations in the OSMR gene, which encodes the oncostatin M receptor ß subunit (OSMRß). OSMRß is interleukin-6 family cytokine receptors and possesses two ligands, oncostatin M and interleukin-...
متن کاملFamilial primary localized cutaneous amyloidosis in Brazil.
BACKGROUND Macular and lichen amyloidosis are clinical variants of primary localized cutaneous amyloidosis (PLCA). Most cases are sporadic, but approximately 10% of cases may be familial. To our knowledge, the clinicopathologic and molecular features of such pedigrees, however, have not been studied in detail. OBSERVATIONS We assessed 2 Brazilian families with either lichen-type (family 1 had...
متن کاملFamilial primary localized cutaneous amyloidosis results from either dominant or recessive mutations in OSMR.
© 2015 The Authors. doi: 10.2340/00015555-2104 Journal Compilation © 2015 Acta Dermato-Venereologica. ISSN 0001-5555 Primary localized cutaneous amyloidosis (PLCA; MIM 105250) is a chronic itchy skin disorder associated with amyloid deposits in the superficial dermis (1). Clinically, most skin lesions comprise small, flat-topped papules (lichen amyloidosis) or brown-grey macules (macular amyloi...
متن کامل[Disseminated nodular primary localized cutaneous amyloidosis].
Amyloid is a proteinaceous material that is deposited in the tissues in a large variety of clinical contexts; in the skin it can be found with or without concomitant systemic disease. Primary localized cutaneous amyloidosis encompasses those amyloidoses restricted to the skin without involvement of other systems. The most common forms within this group are macular and lichen amyloidosis. Nodula...
متن کاملApolipoprotein E4 is associated with primary localized cutaneous amyloidosis.
Apolipoprotein E (apoE) is a lipid transport protein, which is a component of lipoproteins, such as very low density lipoprotein, intermediate density lipoprotein, high density lipoprotein, and chylomicron. ApoE is also produced and secreted in the skin, and is implicated to play roles in epidermal differentiation and proliferation (Barra et al, 1994). We have reported that apoE was a component...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2008
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2007.09.002