نتایج جستجو برای: poikiloderma

تعداد نتایج: 174  

2018
Joshua A. Grochow Jamie Tucker-Foltz

Covering spaces of graphs have long been useful for studying expanders (as “graph lifts”) and unique games (as the “label-extended graph”). In this paper we advocate for the thesis that there is a much deeper relationship between computational topology and the Unique Games Conjecture. Our starting point is Linial’s 2005 observation that the only known problems whose inapproximability is equival...

2016
Gaofeng Zhang Yu Gu Rumena Begum Hongduo Chen Xinghua Gao John A. McGrath Maddy Parsons Bing Song

Kindler syndrome (KS) is an autosomal recessive blistering skin disease resulting from pathogenic mutations in FERMT1. This gene encodes kindlin-1, a focal adhesion protein involved in activation of the integrin family of extracellular matrix receptors. Most cases of KS show a marked reduction or complete absence of the kindlin-1 protein in keratinocytes, resulting in defective cell adhesion an...

Journal: :The Journal of clinical investigation 2012
Dimitra Kiritsi Yinghong He Anna M G Pasmooij Meltem Onder Rudolf Happle Marcel F Jonkman Leena Bruckner-Tuderman Cristina Has

Spontaneous gene repair, also called revertant mosaicism, has been documented in several genetic disorders involving organs that undergo self-regeneration, including the skin. Genetic reversion may occur through different mechanisms, and in a single individual, the mutation can be repaired in various ways. Here we describe a disseminated pattern of revertant mosaicism observed in 6 patients wit...

2017

The first detailed descriptions of patients with rare muscle disease (acute form of myositis) with cutaneous lesions were reported by E. Wagner [1] in 1863 and P. Potain (1875) [2]. These authors introduced to the medical community a new group of IIMs, characterized by the damage of many skeletal muscles and by skin manifestations. These disorders are rare, but increasingly recognized. They hav...

2017

The first detailed descriptions of patients with rare muscle disease (acute form of myositis) with cutaneous lesions were reported by E. Wagner [1] in 1863 and P. Potain (1875) [2]. These authors introduced to the medical community a new group of IIMs, characterized by the damage of many skeletal muscles and by skin manifestations. These disorders are rare, but increasingly recognized. They hav...

2017

The first detailed descriptions of patients with rare muscle disease (acute form of myositis) with cutaneous lesions were reported by E. Wagner [1] in 1863 and P. Potain (1875) [2]. These authors introduced to the medical community a new group of IIMs, characterized by the damage of many skeletal muscles and by skin manifestations. These disorders are rare, but increasingly recognized. They hav...

2014
Dababneh

Palmoplantar keratodermas (PPK) include a heterogeneous group of disorders with overlapping clinical features. The main aspect of PPK is thickening and hyperkeratosis of the palmar and plantar skin, that may be hereditary or acquired; diffuse, focal, or punctuate; and transgrediens or progrediens. PPKs are further distinguished by their mode of inheritance and by the presence of certain associa...

Journal: :PLoS Genetics 2008
Siegfried Ussar Markus Moser Moritz Widmaier Emanuel Rognoni Christian Harrer Orsolya Genzel-Boroviczeny Reinhard Fässler

Kindler Syndrome (KS), characterized by transient skin blistering followed by abnormal pigmentation, skin atrophy, and skin cancer, is caused by mutations in the FERMT1 gene. Although a few KS patients have been reported to also develop ulcerative colitis (UC), a causal link to the FERMT1 gene mutation is unknown. The FERMT1 gene product belongs to a family of focal adhesion proteins (Kindlin-1...

2017
Maria Isabel Beatriz Lim Puno Ma. Teresa Ela Dimagiba Ma. Jasmin Jacinto Jamora Filomena Legarda Montinola Patricia Ty Tinio

GSS: granulomatous slack skin PUVA: psoralen plus ultraviolet A therapy INTRODUCTION Granulomatous slack skin (GSS), a rare variant of mycosis fungoides, is characterized clinically by bulky, pendulous skin folds on flexural areas and histologically by elastolytic granulomatous infiltrates of clonal T cells. The monoclonal rearrangement of the T-cell receptor b and g genes can be demonstrated b...

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