更新于：2024-11-01

NCALD

更新于：2024-11-01

基本信息

别名

NCALD、neurocalcin delta、Neurocalcin-delta

简介

May be involved in the calcium-dependent regulation of rhodopsin phosphorylation. Binds three calcium ions.

关联

项与 NCALD 相关的药物

NCALD-ASO

靶点

NCALD

作用机制

NCALD调节剂

在研机构

Ionis Pharmaceuticals, Inc. [+1]

原研机构

Ionis Pharmaceuticals, Inc. [+1]

在研适应症

脊髓性肌萎缩

非在研适应症-

最高研发阶段临床前

首次获批国家/地区-

首次获批日期1800-01-20

100 项与 NCALD 相关的临床结果

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100 项与 NCALD 相关的转化医学

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0 项与 NCALD 相关的专利（医药）

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项与 NCALD 相关的文献（医药）

2023-08-01·International immunopharmacology

Corrigendum to "Antidepressant-like effects of helicid on a chronic unpredictable mild stress-induced depression rat model: Inhibiting the IKK/IκBα/NF-κB pathway through NCALD to reduce inflammation" [Int. Immunopharmacol. 93 (2021) 107165].

作者: Tong, Jiu-Cui ; Liu, Yan-Hao ; Luan, Di ; Zhou, Tao-Feng ; Zhang, Xiao-Tong ; Yuan, Li-Li ; Zhong, Zheng-Ling ; Zhang, Yuan-Xiang ; Zhou, An-Cheng ; Zhu, Hao-Yu ; Li, Hong-Jin

2023-06-01·European journal of human genetics : EJHG

A genome-wide association analysis of loss of ambulation in dystrophinopathy patients suggests multiple candidate modifiers of disease severity.

Article

作者: Simmons, Tabatha R ; Waldrop, Megan A ; Alles, Roxane ; Weiss, Robert B ; Dunn, Diane M ; Moore-Clingenpeel, Melissa ; Burian, John ; Flanigan, Kevin M ; Seok, Sang-Cheol ; Vieland, Veronica J ; Alfano, Lindsay N ; Martin, Paul T

The major determinant of disease severity in Duchenne muscular dystrophy (DMD) or milder Becker muscular dystrophy (BMD) is whether the dystrophin gene (DMD) mutation truncates the mRNA reading frame or allows expression of a partially functional protein. However, even in the complete absence of dystrophin, variability in disease severity is observed, and candidate gene studies have implicated several genes as modifiers. Here we present the largest genome-wide search to date for loci influencing severity in N = 419 DMD patients. Availability of subjects for such studies is quite limited, leading to modest sample sizes, which present a challenge for GWAS design. We have therefore taken special steps to minimize heterogeneity within our dataset at the DMD locus itself, taking a novel approach to mutation classification to effectively exclude the possibility of residual dystrophin expression, and utilized statistical methods that are well adapted to smaller sample sizes, including the use of a novel linear regression-like residual for time to ambulatory loss and the application of evidential statistics for the GWAS approach. Finally, we applied an unbiased in silico pipeline, utilizing functional genomic datasets to explore the potential impact of the best supported SNPs. In all, we obtained eight SNPs (out of 1,385,356 total) with posterior probability of trait-marker association (PPLD) ≥ 0.4, representing six distinct loci. Our analysis prioritized likely non-coding SNP regulatory effects on six genes (ETAA1, PARD6G, GALNTL6, MAN1A1, ADAMTS19, and NCALD), each with plausibility as a DMD modifier. These results support both recurrent and potentially new pathways for intervention in the dystrophinopathies.

2023-05-01·Health Science Reports

The role of DNA methylation in ovarian cancer chemoresistance: A narrative review

Article

作者: Song, Kaiyang ; Artibani, Mara

AbstractBackground and AimsOvarian cancer (OC) is the most lethal gynecological cancer. In 2018, it was responsible for over 180,000 deaths worldwide. The high mortality rate is the culmination of a lack of early diagnosis and high rates of chemotherapy resistance, which is synonymous with disease recurrence. Over the last two decades, an increasingly significant role of epigenetic mechanisms, in particular DNA methylation, has emerged. This review will discuss several of the most significant genes whose hypo/hypermethylation profiles are associated with chemoresistance. Aside from functionally elucidating and evaluating these epimutations, this review will discuss recent trials of DNA methyltransferase inhibitors (DNMTi). Finally, we will propose future directions that could enhance the feasibility of utilizing these candidate epimutations as clinical biomarkers.MethodsTo perform this review, a comprehensive literature search based on our keywords was conducted across the online databases PubMed and Google Scholar for identifying relevant studies published up until August 2022.ResultsEpimutations affecting MLH1, MSH2, and Ras‐association domain family 1 isoform A (DNA damage repair and apoptosis); ATP‐binding cassette subfamily B member 1 and methylation‐controlled J (drug export); secreted frizzled‐related proteins (Wnt/β‐catenin signaling), neurocalcin delta (calcium and G protein‐coupled receptor signaling), and zinc finger protein 671 all have potential as biomarkers for chemoresistance. However, specific uncertainties relating to these epimutations include histotype‐specific differences, intrinsic versus acquired chemoresistance, and the interplay with complete surgical debulking. DNMTi for chemoresistant OC patients has shown some promise; however, issues surrounding their efficacy and dose‐limiting toxicities remain; a personalized approach is required to maximize their effectiveness.ConclusionEstablishing a panel of aberrantly methylated chemoresistance‐related genes to predict chemoresponsiveness and patients' suitability to DNMTi could significantly reduce OC recurrence, while improving DNMTi therapy viability. To achieve this, a large‐scale prospective genome‐wide DNA methylation profile study that spans different histotypes, includes paired samples (before and after chemotherapy), and integrates transcriptomic and methylomic analysis, is warranted.