更新于：2024-09-19

TMEM43

更新于：2024-09-19

基本信息

别名

ARVD5、DKFZp586G1919、LUMA

+ [4]

简介

May have an important role in maintaining nuclear envelope structure by organizing protein complexes at the inner nuclear membrane. Required for retaining emerin at the inner nuclear membrane (By similarity). Plays a role in the modulation of innate immune signaling through the cGAS-STING pathway by interacting with RNF26 (PubMed:32614325). In addition, functions as a critical signaling component in mediating NF-kappa-B activation by acting downstream of EGFR and upstream of CARD10 (PubMed:27991920). Contributes to passive conductance current in cochlear glia-like supporting cells, mediated by gap junctions and necessary for hearing and speech discrimination (PubMed:34050020).

关联

100 项与 TMEM43 相关的临床结果

登录后查看更多信息

100 项与 TMEM43 相关的转化医学

登录后查看更多信息

0 项与 TMEM43 相关的专利（医药）

登录后查看更多信息

177

项与 TMEM43 相关的文献（医药）

2024-08-01·Stem Cell Research

Generation of an induced pluripotent stem cell line from a patient with arrhythmogenic right ventricular cardiomyopathy harboring a TMEM43 splice-site variant

Article

作者: Suh, David ; Yoon, Ho-Geun ; Kim, Hyoeun ; Park, Sahng Wook ; Lee, Seung-Hyun ; Lim, Gibbeum ; Kang, Seok-Min ; Kim, Hyoung-Pyo ; Kwon, Chulan ; Lee, Sun-Ho ; Oh, Jaewon ; Choi, Hyo-Kyoung

Arrhythmogenic cardiomyopathy (ACM) is a cardiomyopathy that is predominantly inherited and characterized by cardiac arrhythmias and structural abnormalities. TMEM43 (transmembrane protein 43) is one of the well-known genetic culprits behind ACM. In this study, we successfully generated an induced pluripotent stem cell (iPSC) line, YCMi010-A, derived from a male patient diagnosed with ACM. Although these iPSCs harbored a heterozygous intronic splice variant, TMEM43 c.443-2A > G, they still displayed normal cellular morphology and were confirmed to express pluripotency markers. YCMi010-A iPSC line is a promising model for investigating the pathomechanisms associated with ACM and exploring potential therapeutic strategies.

2024-04-08·JCI Insight

Molecular subtyping improves breast cancer diagnosis in the Copenhagen Breast Cancer Genomics Study

Article

作者: Berg, Tobias ; Knoop, Ann Søegaard ; Celik, Alan ; Jensen, Maj-Britt ; Rossing, Maria ; Talman, Maj-Lis ; Nielsen, Finn Cilius ; Ejlertsen, Bent ; Misiakou, Maria Anna

BACKGROUNDIntrinsic molecular subtypes define distinct biological breast cancers and can be used to further improve diagnosis and risk allocation.METHODSThe Copenhagen Breast Cancer Genomics Study (CBCGS) prospectively included women diagnosed with breast cancer at Rigshospitalet from 2014 to 2021. Eligible patients were females with a primary invasive breast cancer (T1c, if N0M0; otherwise, any T, any N, or any M stage) and no prior malignancy. All patients underwent molecular profiling with the CIT256 and PAM50 molecular profile.RESULTSIn the study period, 2,816 patients were included in the CBCGS. Molecular subtyping showed an increase in nonluminal (molecular-apocrine, luminal C, and Basal-like) as compared with luminal (luminal A, luminal B, and Normal-like) subtypes with increasing stage from I to IV. Across all stages, we found a significant difference in survival among subtypes; 91% of patients with LumA were alive at 5 years compared with 91% for LumB, 84% for LumC, 82% for mApo, and 80% for Basal-like. We identified 442 tumors (16%) that were discordant in subtype between CIT256 and IHC. Discordant subtype proved to be a risk factor of death among patients with IHC luminal breast cancer (hazard ratio [HR], 2.08; 95% CI, 1.51-2.86) in a multivariable Cox regression analysis. Discordance occurred more often among patients with N3, stage IV, or grade III disease.CONCLUSIONOur findings indicate that molecular subtypes are a predominant classification for survival. Assessment is particularly crucial for patients with IHC luminal breast cancer with known high-risk factors, since they are at an increased risk of harboring an aggressive molecular subtype.

2024-04-01·Stem Cell Research

Generation of a TMEM43 knockout human induced pluripotent stem cell line (HDZi003-A-1) using CRISPR/Cas9

Article

作者: Meyer, Heiko ; Ratnavadivel, Sandra ; Gummert, Jan ; Klinke, Nora ; Gaertner, Anna ; Bloch Rasmussen, Torsten ; Dammeier, Joline ; Paululat, Achim ; Jürgens, Kai ; de Toledo, Marcelo A Szymanski ; Milting, Hendrik ; Zenke, Martin

TMEM43 (LUMA) is a ubiquitously expressed protein with unknown function. The protein is phylogenetically highly conserved and also found in Drosophila melanogaster (Klinke et al., 2022). TMEM43-p.S358L is a rare, fully penetrant mutation that leads to arrhythmogenic right ventricular cardiomyopathy type 5 (ARVC5). To understand the function of the ARVC5-associated mutation it is first important to understand the function of the TMEM43 protein. Therefore, a TMEM43 knockout induced pluripotent stem cell (iPSC) line was generated using the CRISPR/Cas9 genome editing system. The resulting cell line had a deficiency of TMEM43 and showed normal morphology and a stable karyotype. The colonies were positive for pluripotency markers and could be differentiated into the three germ layers.

项与 TMEM43 相关的新闻（医药）

2023-05-05

·医药笔记

盘点那些重磅药物的商品名

▎Armstrong创新药商品名的命名，是一个技术活，更是一门艺术。葛兰素史克刚刚获批的全球首款呼吸道合胞病毒（RSV）疫苗，商品名为“Arexvy”，读音就是“RSV”。第一三共/阿斯利康具有里程碑意义的明星HER2 ADC药物DS-8201，商品名为Enhertu，读音中也包含HER2。百时美施贵宝的全球首款PD-1抗体，商品名为Opdivo，其中pdi以为PD-1。默沙东药王PD-1抗体，商品名为Keytruda，Key有关键的意思，tru有真正的意思。辉瑞/BioNTech的全球首款mRNA疫苗，商品名为Comirnaty，Co意为COVID-19，mirna则是mRNA的意思，即新冠mRNA疫苗的意思。前缀Co和后缀ty还有Community（社区）的意思。美纳里尼集团的全球首款口服SERD抑制剂，商品名为Orserdu，名字为oral和serd的组合，即口服SERD。安进的全球首款KRAS G12C抑制剂，商品名Lumakras，luma为发光的意思，后缀则包含了靶点KRAS。百时美施贵宝PD-1+LAG-3复方抗体，商品名为Opdualag，pd和lag表明同时靶向PD-1和LAG-3，dual还有双靶点的意思。百时美施贵宝首款TYK2抑制剂，商品名为Sotyktu，包含了TYK2的靶点信息。Vertex的超重磅三组分囊性纤维化药物，商品名为Trikafta，Tri为三组分的意思，kafta则意为elexacaftor/ivacaftor/tezacaftor后缀caftor（靶点囊性纤维化跨膜电导调节因子，CFTR）。诺和诺德减肥版司美格鲁肽，商品名为Wegovy，govy是go away的意思，we应代表weight，意为体重都离开的意思。总结通用名有严格的命名规则，需要使用特定的词干来表明作用机制或用途等含义。商品名不同于通用名，要求避开通用名的词干，但可以用意译或音译来代表技术路线、靶点或者适应症。同时，商品名经常采用一些特定寓意的单词词干，来指代药物为患者带来的临床价值以及美好的希望。Armstrong技术全梳理系列GPRC5D靶点全梳理；CD40靶点全梳理；CD47靶点全梳理；补体靶向药物技术全梳理；补体药物：眼科治疗的重要方向；Claudin 6靶点全梳理；Claudin 18.2靶点全梳理；靶点冷暖，行业自知；中国大分子新药研发格局；被炮轰的“me too”；佐剂百年史；胰岛素百年传奇；CUSBEA：风雨四十载；中国新药研发的焦虑；中国生物医药企业的研发竞争；中国双抗竞争格局；中国ADC竞争格局；中国双抗技术全梳理；中国ADC技术全梳理；Ambrx技术全梳理；Vir Biotech技术全梳理；Immune-Onc技术全梳理；科济药业技术全梳理；恺佧生物技术全梳理；同宜医药技术全梳理；百奥赛图技术全梳理；腾盛博药技术全梳理；创胜集团技术全梳理；永泰生物技术全梳理；中国抗体技术全梳理；德琪医药技术全梳理；德琪医药技术全梳理2.0；和铂医药技术全梳理；荣昌生物技术全梳理；再鼎医药技术全梳理；药明生物技术全梳理；恒瑞医药技术全梳理；豪森药业技术全梳理；正大天晴技术全梳理；吉凯基因技术全梳理；基石药业技术全梳理；百济神州技术全梳理；百济神州技术全梳理第2版；信达生物技术全梳理；信达生物技术全梳理第2版；中山康方技术全梳理；复宏汉霖技术全梳理；先声药业技术全梳理；君实生物技术全梳理；嘉和生物技术全梳理；志道生物技术全梳理；道尔生物技术全梳理；尚健生物技术全梳理；康宁杰瑞技术全梳理；科望医药技术全梳理；科望医药技术全梳理2.0；岸迈生物技术全梳理；礼进生物技术全梳理；康桥资本技术全梳理；余国良的抗体药布局；荃信生物技术全梳理；安源医药技术全梳理；三生国健技术全梳理；仁会生物技术全梳理；乐普生物技术全梳理；同润生物技术全梳理；宜明昂科技术全梳理；派格生物技术全梳理；迈威生物技术全梳理；Momenta技术全梳理；NGM技术全梳理；普米斯生物技术全梳理；普米斯生物技术全梳理2.0；三叶草生物技术全梳理；贝达药业抗体药全梳理；泽璟制药抗体药全梳理；恒瑞医药抗体药全梳理；齐鲁制药抗体药全梳理；石药集团抗体药全梳理；豪森药业抗体药全梳理；华海药业抗体药全梳理；科伦药业抗体药全梳理；百奥泰技术全梳理；凡恩世技术全梳理。

疫苗抗体药物偶联物信使RNA医药出海