Rag GTPases are cardioprotective by regulating lysosomal function. [PDF]
, 2014 The Rag family proteins are Ras-like small GTPases that have a critical role in amino-acid-stimulated mTORC1 activation by recruiting mTORC1 to lysosome.
Guan, Kun-Liang +8 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
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A low-density SNP array for analyzing differential selection in freshwater and marine populations of threespine stickleback (Gasterosteus aculeatus) [PDF]
, 2014 BACKGROUND: The threespine stickleback (Gasterosteus aculeatus) has become an important model species for studying both contemporary and parallel evolution.
Bekkevold, Dorte +5 more
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Treatment of Darier’s disease with oral magnesium: a case report
SAGE Open Medical Case Reports, 2018 Darier’s disease, an autosomal dominant genodermatosis, arises from a mutation in the ATP2A2 gene that codes for sarco/endoplasmic reticulum Ca 2+ -ATPase in the endoplasmic reticulum and is characterized by greasy keratotic papules commonly found in ...
Heidi Oi-Yee Li +2 more
doaj +1 more source
ATP2A2 rs3026468 does not associate with quadriceps contractile properties and acute muscle potentiation in humans [PDF]
, 2018 Eric A. Kirk +2 more
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65 Persistent cutaneous lesions of darier disease are associated with second-hit somatic variants in ATP2A2 gene [PDF]
, 2023 Lihi Atzmony +5 more
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Guttate hypopigmentation in Darier disease: A rare presentation
Pigment InternationalDarier disease (DD) is an autosomal dominant genodermatosis attributed to ATP2A2 gene mutation which encodes the sarco/endoplasmic reticulum Ca2+ATPase isoform 2.
Aradhana Rout +2 more
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Darier′s disease in gastric malignancy: An unusual paraneoplastic phenomenon
Indian Journal of Dermatology, 2015 Darier′s disease is an autosomal dominant genodermatosis resulting from ATP2A2 gene mutation. A 62-year-old male presented at our outpatient (OPD) with sudden-onset numerous dirty, warty papules over the head, neck, and back since 2 months ...
Anusree Gangopadhyay +5 more
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In vivo cell-autonomous transcriptional abnormalities revealed in mice expressing mutant huntingtin in striatal but not cortical neurons [PDF]
, 2017 Huntington's disease (HD), caused by a CAG repeat expansion in the huntingtin (HTT) gene, is characterized by abnormal protein aggregates and motor and cognitive dysfunction.
Brown, Timothy B. +8 more
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