NALF1

更新于：2025-05-07

基本信息

别名

FAM155A、NALCN channel auxiliary factor 1、NALF1

+ [2]

简介

Auxillary component of the NALCN sodium channel complex, a channel that regulates the resting membrane potential and controls neuronal excitability.

关联

100 项与 NALF1 相关的临床结果

登录后查看更多信息

100 项与 NALF1 相关的转化医学

登录后查看更多信息

0 项与 NALF1 相关的专利（医药）

登录后查看更多信息

项与 NALF1 相关的文献（医药）

2025-04-01·Advances in Medical Sciences

Collagen (rs3134646) and AGHRP (rs4662344) genetic variants may predispose to colonic diverticulosis.

Article

作者: Placha, Grzegorz ; Przybyłkowski, Adam ; Nehring, Piotr

PURPOSEColonic diverticulosis is a common condition in older adults in the entire world. Besides environmental factors, there are emerging data on underlying genetic predisposition to diverticula formation. The study aimed to identify genetic factors associated with colonic diverticulosis.PATIENTS AND METHODSThe study involved 323 patients, 134 with colonic diverticulosis, and 189 healthy controls. In all study participants the following genetic variants were assessed using RT-PCR: rs1800587 in IL1, rs16944, and rs2853550 in IL1B, rs3134646, and rs6434304 in COL3A1, rs3771810, and rs3771863 in TACR1, rs4644560 in NK2R, rs4662344 in ARHGAP15, rs67153654 in FAM155A, and rs7848647 in TNFSF15.RESULTSBoth, the allele C of the COL3A1 (rs3134646) variant and allele T of the ARHGAP15 (rs4662344) variant, were shown to be associated with diverticulosis, compared to healthy controls in co-dominant and recessive models. Both of them were more frequently reported in in patients with colonic diverticulosis, compared to healthy controls. There were no allelic or genetic associations in patients with diverticulosis or diverticulitis compared to healthy controls, for the following genetic variants: IL1A (rs1800587), IL1B (rs16944, rs2853550), COL3A1 (rs6434304), TACR1 (rs3771810, rs3771863), NK2R (rs4644560), FAM155A (rs67153654) and TNFSF15 (rs7848647).CONCLUSIONSThe allele C of COL3A1 (rs3134646) and allele T of the ARHGAP15 (rs4662344) may predispose to colonic diverticulosis. When viewed in the context of previous studies, these findings suggest that the development of colonic diverticula may be influenced by the involvement and degradation of the extracellular matrix.

2025-01-01·Breast Cancer Research and Treatment

Uncovering novel pathogenic variants and pathway mutations in triple-negative breast cancer among the endogamous mizo tribe

Article

作者: Zomuana, Thomas ; Kumar, Nachimuthu Senthil ; Vanlalpeka, Johan ; Lalruatfela, Sailo Tlau ; Lalremmawia, H. ; Chhakchhuak, Lalchhandama ; Varma, Ashok K ; Varma, Ashok K. ; Ralte, Lalengkimi ; Pachuau, Lalawmpuii ; Zohmingthanga, John ; Chenkual, Saia ; Pautu, Jeremy Lalrinsanga ; Lalremmawia, H

PURPOSEThe incidence of triple-negative breast cancer (TNBC) in India is higher compared to Western populations. The objective of this study is to identify novel and less reported variants in TNBC in Mizoram, a state with a high cancer incidence in India.METHODSWe analysed whole exome sequencing data from triple-negative breast cancer (TNBC) patients in the Mizo population to identify key and novel variants. Moreover, we analysed reported breast cancer-related genes and pathway alterations.RESULTSSomatic mutation analysis revealed that TP53 was the most frequently mutated gene and TP53, CACNA1E, IGSF3, RYR1, and FAM155A as significantly mutated driver genes. Based on the ACMG guidelines, we identified a rare pathogenic germline variant of BRCA1 (p.C1697R) in 13% and a likely pathogenic frameshift insertion in RBMX (p.P106Ffs) in 73% of the patients. We also found that the ATM, STK11, and CDKN2A genes were significantly mutated in germline TNBC samples compared to healthy samples. Moreover, we identified novel somatic variants in CHEK2 (p.K182M) and NF1 (p.C245X), and novel germline variants RB1 (p.D111G), CDH1 (p.A10Gfs), CDKN2A (p.V96G), CDKN2A (p.S12Afs*22), MAP3K1 (CAAdelins0), MSH6 (p.L1226_L1230del), and PMS2 (TTCdelins0). Pathway analysis revealed that most somatic mutations were highly associated with PI3K-Akt signalling pathway and MAPK signalling pathways in TNBC.CONCLUSIONSThese findings identified novel variants and key genes contributing to disease development and progression. Further analysis of less studied genes, including RBMX, MRC1, ATM, CTNNB1, and CDKN2A, in TNBC may reveal new potential genes for targeted therapeutic strategies and contribute to clinical advancements in the treatment of TNBC.

2024-05-08·BJS Open

Genetic, epigenetic and environmental factors in diverticular disease: systematic review

Review

作者: Walker, Eleanor T ; Sibley, Pauline ; Pata, Francesco ; Keller, Deborah S ; Vimalachandran, Dale ; McDermott, Frank D ; Humphrey, Hannah N ; Daniels, Ian R

AbstractBackgroundDiverticulosis is a normal anatomical variant of the colon present in more than 70% of the westernized population over the age of 80. Approximately 3% will develop diverticulitis in their lifetime. Many patients present emergently, suffer high morbidity rates and require substantial healthcare resources. Diverticulosis is the most common finding at colonoscopy and has the potential for causing a significant morbidity rate and burden on healthcare. There is a need to better understand the aetiology and pathogenesis of diverticular disease. Research suggests a genetic susceptibility of 40–50% in the formation of diverticular disease. The aim of this review is to present the hypothesized functional effects of the identified gene loci and environmental factors.MethodsA systematic literature review was performed using PubMed, MEDLINE and Embase. Medical subject headings terms used were: ‘diverticular disease, diverticulosis, diverticulitis, genomics, genetics and epigenetics’. A review of grey literature identified environmental factors.ResultsOf 995 articles identified, 59 articles met the inclusion criteria. Age, obesity and smoking are strongly associated environmental risk factors. Intrinsic factors of the colonic wall are associated with the presence of diverticula. Genetic pathways of interest and environmental risk factors were identified. The COLQ, FAM155A, PHGR1, ARHGAP15, S100A10, and TNFSF15 genes are the strongest candidates for further research.ConclusionThere is increasing evidence to support the role of genomics in the spectrum of diverticular disease. Genomic, epigenetic and omic research with demographic context will help improve the understanding and management of this complex disease.

分析

对领域进行一次全面的分析。

或

查看完整样例数据

Eureka LS:

全新生物医药AI Agent 覆盖科研全链路，让突破性发现快人一步

立即开始免费试用!

智慧芽新药情报库是智慧芽专为生命科学人士构建的基于AI的创新药情报平台，助您全方位提升您的研发与决策效率。

立即开始数据试用!

智慧芽新药库数据也通过智慧芽数据服务平台，以API或者数据包形式对外开放，助您更加充分利用智慧芽新药情报信息。