Results 51 to 60 of about 12,282 (232)

A Case of Darier’s Disease with a Novel Missense Mutation in ATP2A2 Successfully Treated with Calcipotriol/Betamethasone Dipropionate Two-Compound Ointment

Clinical, Cosmetic and Investigational Dermatology, 2022
Teppei Hagino,1 Hajime Nakano,2 Hidehisa Saeki,3 Naoko Kanda1 1Department of Dermatology, Nippon Medical School Chiba Hokusoh Hospital, Inzai, Japan; 2Department of Dermatology, Hirosaki University Graduate School of Medicine, Hirosaki, Japan ...
Hagino T, Nakano H, Saeki H, Kanda N
doaj  

Darier disease with acrokeratosis verruciformis of hopf and their aggravation on lithium therapy for bipolar disorder

Indian Journal of Paediatric Dermatology, 2023
Darier disease (DD) and acrokeratosis verruciformis of Hopf are rare autosomal dominant skin disorders. Both are caused by a single gene mutation, i.e., ATP2A2 located on chromosome 12, which is expressed in the skin and brain. However, both the diseases
Avinash Sharma, Brij Kishore Saini, Suresh Kumar Jain, Ramesh Kumar Kushwaha   +3 more
doaj   +1 more source

Functional effects of schizophrenia-linked genetic variants on intrinsic single-neuron excitability: A modeling study

, 2015
Background: Recent genome-wide association studies (GWAS) have identified a large number of genetic risk factors for schizophrenia (SCZ) featuring ion channels and calcium transporters.
Andreassen, Ole A., Bettella, Francesco, Dale, Anders M., Devor, Anna, Djurovic, Srdjan, Einevoll, Gaute T., Halnes, Geir, Mäki-Marttunen, Tuomo, Wang, Yunpeng, Witoelar, Aree   +9 more
core   +2 more sources

PCN3 Improvement of the 3rd Generation Colorectal Cancer Gene Chip [PDF]

, 2012
Particulate geochemistry of sediment core M107_630-
Bleyer, Anke, Sommer, Stefan
core   +1 more source

Darier Disease – A Multi-organ Condition?

Acta Dermato-Venereologica, 2021
Darier disease is a severe, rare autosomal dominant inherited skin condition caused by mutations in the ATP2A2 gene encoding sarcoendoplasmic reticulum Ca2+-ATPase isoform 2 in the endoplasmic reticulum.
Etty Bachar-Wikström, Jakob D. Wikström   +1 more
doaj   +1 more source

Epilepsie und Morbus Darier - erhöht die Dermatose das Epilepsierisiko? [PDF]

, 2019
Morbus Darier ist eine autosomal-dominant vererbte Hautkrankheit aufgrund von Mutationen in dem Gen ATP2A2, das für eine Ca2+-ATPase (SERCA2) kodiert.
Nolting, Julia Kathinka
core   +1 more source

High ATP2A2 expression correlates with better prognosis of diffuse astrocytic tumor patients

Oncology Reports, 2017
Novel molecular markers are required for defining subsets of diffuse astrocytic tumor patients with differing prognoses. Here, we examined ATP2A2 expression in 109 human diffuse astrocytic tumor samples (39 grade II diffuse astrocytoma (DA), 19 grade III anaplastic astrocytoma (AA), 51 grade IV glioblastoma) and its correlation with patient ...
Wei-Qing, Li, Nan-Zhe, Zhong, Jin, He, Yi-Ming, Li, Li-Jun, Hou, Hui-Min, Liu, Chun-Yan, Xia, Liang-Zhe, Wang, Yi-Cheng, Lu   +8 more
openaire   +3 more sources

Ethanol Induced Disordering of Pancreatic Acinar Cell Endoplasmic Reticulum: An ER Stress/Defective Unfolded Protein Response Model. [PDF]

, 2018
Background & aimsHeavy alcohol drinking is associated with pancreatitis, whereas moderate intake lowers the risk. Mice fed ethanol long term show no pancreas damage unless adaptive/protective responses mediating proteostasis are disrupted. Pancreatic
Abrol, Ravinder, Capri, Joseph, Cohn, Whitaker, Faull, Kym F, Freeman, Michael R, Lugea, Aurelia, Pandol, Stephen J, Piplani, Honit, Sakkiah, Sugunadevi, Su, Hsin-Yuan, Waldron, Richard T, Whitelegge, Julian P, Yang, Wei, Zhou, Bo   +13 more
core   +3 more sources

Persistent Cutaneous Lesions of Darier Disease and Second-Hit Somatic Variants in ATP2A2 Gene.

JAMA Dermatol
Atzmony L, Zagairy F, Mawassi B, Shehade M, Tatour Y, Danial-Farran N, Khayat M, Warrour N, Dodiuk-Gad R, Cohen-Barak E.   +9 more
europepmc   +3 more sources

Heterozygous ATP2A2 missense variant identified in a Shih Tzu with Darier disease

Animal Genetics, 2023
AbstractDarier disease is caused by heterozygous loss of function variants in the ATP2A2 gene encoding the endoplasmic/sarcoplasmic reticulum Ca2+ pump ATP2A2. Defective intracellular calcium signaling in the epidermis results in a loss of desmosomal adhesion and the development of characteristic skin lesions.
Sarah Kiener, Ching Yang, Naomi Rich, Vidhya Jagannathan, Elizabeth A. Mauldin, Tosso Leeb   +5 more
openaire   +3 more sources