Externally Supported, Noncoated, Knitted Dacron Graft and Gelatin-Coated Knitted Dacron Graft with Rings for Peripheral Arterial Reconstruction

Matsubara, Junichi; Sakamoto, Shigeru; Yamamoto, Kazuhisa; Hida, Kenji; Harada, Y.; Kobata, Takashi

doi:10.1007/s005470000011

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2004

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“…Associated findings include various varieties of nail abnormalities, ‘cobblestoning’ of the oral mucous membrane, punctate keratoses on the palms and soles, and broken papillary lines [1]. Salivary stones and cysts of the long bones have been described occasionally [2]. In a number of DD patients, a lower IQ can be observed, some suffer from various neuropsychiatric abnormalities.…”

Section: Introductionmentioning

confidence: 99%

P160L Mutation in the Ca<sup>2+</sup> ATPase 2A Domain in a Patient with Severe Darier Disease

Godić¹,

Glavač²,

Korošec³

et al. 2004

Dermatology

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Darier disease (DD) is caused by mutations of the ATP2A2 gene, which encodes the sarco/endoplasmic reticulum Ca²⁺-ATPase isoform 2 (SERCA2). The mutations affect protein expression, degradation and activity. We report a patient with severe sporadic DD, who did not respond adequately to repeated courses of orally administered acitretin and isotretinoin. He was found to harbor the missense P160L mutation of the ATP2A2 gene in a heterozygous state in the A domain of SERCA2 and polymorphism in intron 18 (2741 + 54 G → A). The A domain plays a key role in translocation of Ca²⁺ from cytoplasm to endoplasmic reticulum lumen, thus establishing a low intracellular Ca²⁺ concentration.

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Section: Introductionmentioning

confidence: 99%