Results 31 to 40 of about 2,278 (176)

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

open access: yesClinical, 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  

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

open access: yes, 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.   +9 more
core   +2 more sources

Cis‐acting allele specific expression (ASE) differences induced by alcohol and impacted by sex as well as parental genotype of origin [PDF]

open access: yes, 2018
Background Alcohol use disorders (AUDs) are influenced by complex interactions between the genetics of the individual and their environment. We have previously identified hundreds of polygenic genetic variants between the selectively bred high and low ...
Bell, Richard L.   +6 more
core   +1 more source

Whole-Exome Sequencing Reveals Mutational Signature of Hypertrophic Cardiomyopathy

open access: yesInternational Journal of General Medicine, 2023
Xi-Qin Wang,1 Fang Yuan,2 Bao-Rui Yu2 1Department of Internal Medicine, Yuhua Yunfang Integrated Traditional Chinese and Western Medicine Clinic, Shijiazhuang, Hebei, 050023, People’s Republic of China; 2Department of Cardiovascular Medicine, Fuwai ...
Wang XQ, Yuan F, Yu BR
doaj  

Molecular signatures of labor and nonlabor myometrium with parsimonious classification from 2 calcium transporter genes

open access: yesJCI Insight, 2021
Clinical phenotyping of term and preterm labor is imprecise, and disagreement persists on categorization relative to underlying pathobiology, which remains poorly understood.
William E. Ackerman IV   +5 more
doaj   +1 more source

Ebf factors and MyoD cooperate to regulate muscle relaxation via Atp2a1 [PDF]

open access: yes, 2014
Jin, Saihong et al.Myogenic regulatory factors such as MyoD and Myf5 lie at the core of vertebrate muscle differentiation. However, E-boxes, the cognate binding sites for these transcription factors, are not restricted to the promoters/enhancers of ...
M Buckingham   +55 more
core   +4 more sources

Guttate leukoderma and acrokeratosis verruciformis of Hopf: a rare combination in Darier disease [PDF]

open access: yes, 2020
A distinct Darier phenotype presenting with confetti-like hypopigmented macules was first described in 1965. Designated as "guttate leukoderma," this skin finding is a rarely-reported presentation of Darier disease.
Grossman, Shoshana K   +4 more
core  

Genome-wide transcriptomics of aging in the rotifer Brachionus manjavacas, an emerging model system [PDF]

open access: yes, 2017
© The Author(s), 2017. This article is distributed under the terms of the Creative Commons Attribution License. The definitive version was published in BMC Genomics 18 (2017): 217, doi:10.1186/s12864-017-3540-x.Understanding gene expression changes over ...
Gribble, Kristin E.   +1 more
core   +2 more sources

Targeting SERCA2 in organotypic epidermis reveals MEK inhibition as a therapeutic strategy for Darier disease

open access: yesJCI Insight, 2023
Mutation of the ATP2A2 gene encoding sarco-endoplasmic reticulum calcium ATPase 2 (SERCA2) was linked to Darier disease more than 2 decades ago; however, there remain no targeted therapies for this disorder causing recurrent skin blistering and ...
Shivam A. Zaver   +7 more
doaj   +1 more source

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

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

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