Heterozygous frameshift mutation in keratin 5 in a family with Galli-Galli disease [PDF]
, 2014 BACKGROUND: Reticulate pigmentary disorders include the rare autosomal dominant Galli–Galli disease (GGD) and Dowling–Degos disease (DDD). Clinical diagnosis between some of the subtypes can be difficult due to a degree of overlap between clinical ...
Kokkonen, E. W. J. +6 more
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Unilateral Darier’s disease – case report
Przegląd Dermatologiczny, 2017 Introduction . Darier’s disease (dyskeratosis follicularis, keratosis follicularis, Darier-White disease, Darier disease) is a rare genodermatosis inherited in autosomal dominant manner, caused by a mutation in the ATP2A2 gene located on chromosome 12 ...
Jolanta Węgłowska +2 more
doaj +1 more source
Optimisation of recombinant production of active human cardiac SERCA2a ATPase [PDF]
, 2013 Methods for recombinant production of eukaryotic membrane proteins, yielding sufficient quantity and quality of protein for structural biology, remain a challenge.
Antaloae, Ana V. +4 more
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Aberrant lipid metabolism disrupts calcium homeostasis causing liver endoplasmic reticulum stress in obesity. [PDF]
, 2011 The endoplasmic reticulum (ER) is the main site of protein and lipid synthesis, membrane biogenesis, xenobiotic detoxification and cellular calcium storage, and perturbation of ER homeostasis leads to stress and the activation of the unfolded protein ...
AK Cardozo +33 more
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Inframammary Dermatitis: A Case of Localized Late-Onset Darier’s Disease
Case Reports in Dermatology, 2016 Darier’s disease (DD) is an autosomal dominant inherited genodermatosis which is often under- or misdiagnosed. In the majority of cases, the disease manifests in adolescents or young adults with small brownish-yellow, warty, hyperkeratotic papules in ...
Dennis Linder +5 more
doaj +1 more source
Oral leukoplakia, the ongoing discussion on definition and terminology [PDF]
, 2015 In the past decades several definitions of oral leukoplakia have been proposed, the last one, being authorized by the World Health Organization (WHO), dating from 2005.
Van der Waal, Isaäc
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Tight junctions in Hailey-Hailey and Darier’s diseases
Dermatology Reports, 2009 Hailey-Hailey disease (HHD) and Darier’s disease (DD) are caused by mutations in Ca2+-ATPases with the end result of desmosomal disruption and suprabasal acantholysis.
Laura Raiko +5 more
doaj +1 more source
Pseudoxanthoma elasticum and reflectance confocal microscopy: report of two affected young sisters [PDF]
, 2015 Pseudoxanthoma elasticum (PXE) is a rare inherited multisystem disorder that mainly affects skin, eyes and cardiovascular system. The associated clinical signs are due to progressive calcification of elastic fibres and blood vessels, despite normal ...
BORALDI, Federica +5 more
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Adult-onset porokeratotic eccrine ostial and dermal duct nevus:dermatoscopic findings and treatment with tazarotene [PDF]
, 2020 Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare dermatosis initially described as ‘comedo nevus’ and renamed ‘PEODDN’; it has also been referred to as linear eccrine nevus with comedones, porokeratotic eccrine ostial and hair ...
Alomran, Husain, Kanitakis, Jean
core
The FEBS Journal, Volume 292, Issue 24, Page 6644-6669, December 2025.A BioID screen identified interacting proteins for secretory pathway calcium (Ca2+) ATPase 2C (SPCA2C) and showed new links to store‐operated Ca2+ entry. Interactions between SPCA2C and Orai1 were confirmed, along with newly identified interactions with STIM1 and CCDC47.
Petra Samardzija +9 more
wiley +1 more source