更新于：2024-11-01

RPAIN

更新于：2024-11-01

基本信息

别名

hRIP、MGC4189、RIP

+ [3]

简介

Mediates the import of RPA complex into the nucleus, possibly via some interaction with importin beta. Isoform 2 is sumoylated and mediates the localization of RPA complex into the PML body of the nucleus, thereby participating in RPA function in DNA metabolism.

关联

项与 RPAIN 相关的药物

TDRL-551

靶点

RPAIN

作用机制

RPAIN inhibitors

在研机构

NERx Biosciences, Inc.

原研机构

NERx Biosciences, Inc.

在研适应症

非小细胞肺癌 [+1]

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 RPAIN 相关的临床结果

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100 项与 RPAIN 相关的转化医学

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0 项与 RPAIN 相关的专利（医药）

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项与 RPAIN 相关的文献（医药）

2024-04-01·Genetics in Medicine

Unbiased phenotype and genotype matching maximizes gene discovery and diagnostic yield

Article

作者: Varga, Julia ; Fuchs, Adina ; Abu-Libdeh, Bassam ; Simon, Itamar ; Harel, Tamar ; Birk, Ohad S ; Eskin-Schwartz, Marina ; Schueler-Furman, Ora ; Edvardson, Simon ; Yanovsky-Dagan, Shira ; Hadhud, Mohamad ; Rosenbluh, Chaggai ; Elpeleg, Orly ; Salah, Somaya ; Slae, Mordechai ; Damseh, Nadirah S ; Rips, Jonathan ; Halstuk, Orli ; Lang, Ziv ; Eden, Sharon ; Gershon-Naamat, Shiri ; Sido, Tal ; Breuer, Oded ; Abu-Libdeh, Abdulsalam ; Mor-Shaked, Hagar

PURPOSEWidespread application of next-generation sequencing, combined with data exchange platforms, has provided molecular diagnoses for countless families. To maximize diagnostic yield, we implemented an unbiased semi-automated genematching algorithm based on genotype and phenotype matching.METHODSRare homozygous variants identified in 2 or more affected individuals, but not in healthy individuals, were extracted from our local database of ∼12,000 exomes. Phenotype similarity scores (PSS), based on human phenotype ontology terms, were assigned to each pair of individuals matched at the genotype level using HPOsim.RESULTS33,792 genotype-matched pairs were discovered, representing variants in 7567 unique genes. There was an enrichment of PSS ≥0.1 among pathogenic/likely pathogenic variant-level pairs (94.3% in pathogenic/likely pathogenic variant-level matches vs 34.75% in all matches). We highlighted founder or region-specific variants as an internal positive control and proceeded to identify candidate disease genes. Variant-level matches were particularly helpful in cases involving inframe indels and splice region variants beyond the canonical splice sites, which may otherwise have been disregarded, allowing for detection of candidate disease genes, such as KAT2A, RPAIN, and LAMP3.CONCLUSIONSemi-automated genotype matching combined with PSS is a powerful tool to resolve variants of uncertain significance and to identify candidate disease genes.

2021-12-29·ACS Applied Materials & Interfaces2区 · 材料科学

Transparent, Ultrahigh-Refractive Index Polymer Film (n ∼1.97) with Minimal Birefringence (Δn <0.0010)

2区 · 材料科学

Article

作者: Choi, Ji Sung ; Char, Kookheon ; Im, Sung Gap ; Kim, Do Heung ; Choi, Keonwoo ; Jang, Wontae ; Lim, Jeewoo

High refractive index (RI) thin films are of critical importance for advanced optical devices, and the high refractive index polymers (HRIPs) constitute an interesting class of materials for high RI thin films due to low cost, good processability, light weight, and high flexibility. However, HRIPs have yet to realize their full potential in high RI thin film applications due to their relatively low RI, strong absorption in the blue light region, and limited film formation methods such as rapid vitrification. Herein, we report a development of a new HRIP thin film generated through a one-step vapor-phase process, termed sulfur chemical vapor deposition (sCVD), using elemental sulfur and divinyl benzene. The developed poly(sulfur-co-divinyl benzene) (pSDVB-sCVD) film exhibited RI (measured at 632.8 nm) exceeding 1.97, one of the highest RIs among polymers without metallic elements reported to date. Because the sCVD utilized vaporized sulfur with a unique sulfur-cracking step, formation of long polysulfide chains was suppressed efficiently, while high sulfur content as high as 85 wt % could be achieved with no apparent phase separation. Unlike most of inorganic high RI materials, pSDVB-sCVD was highly transparent in the entire visible range and showed extremely low birefringence of 10 × 10^-4. The HRIP thin film with unprecedentedly high RI, together with outstanding transparency and low birefringence, will serve as a key component in a wide range of high-end optical device applications.

2021-12-01·Virology Journal3区 · 医学

Association of the host genetic factors, hypercholesterolemia and diabetes with mild influenza in an Iranian population

3区 · 医学

ArticleOA

作者: Eybpoosh, Sana ; Fotouhi, Fatemeh ; Khanzadeh Alishahi, Majid ; Mehrbod, Parvaneh ; Farahmand, Behrokh

AbstractBackgroundVariation in host genetic factors may result in variation in the host immune response to the infection. Some chronic diseases may also affect individuals’ susceptibility to infectious diseases. The aim of this study was to evaluate the association of the host genetic factors mostly involved in inflammation, as well as hypercholesterolemia and diabetes with mild flu in an Iranian population.MethodsIn this cross-sectional study, nasopharyngeal swab samples were collected from 93 patients referred to primary care centers of Markazi, Semnan, and Zanjan provinces (central Iran) due to flu-like symptoms between March 2015 and December 2018. Of these, PCR test identified 49 influenza A/H1N1 and 44 flu-negative individuals. Twelve single-nucleotide polymorphisms (SNPs) in RPAIN, FCGR2A, MBL-2, CD55, C1QBP, IL-10, TNF-α and an unknown gene were genotyped using iPLEX GOLD SNP genotyping analysis. Hypercholesterolemia and diabetes status was determined based on the physician diagnosis. Association of the host genetic variants, hypercholesterolemia and diabetes with mild A/H1N1 flu was assessed with univariable and multivariable logistic regression analysis as implemented in Stata software (v.14). Statistical tests were considered as significant at 0.05 levels.ResultsFrequency of diabetes and hypercholesterolemia, as well as participants mean age was significantly higher in the flu-negative rather than the flu-positive group. Of 12 SNPs, nine did not show any significant association with mild flu in our study (rs1801274, rs1800451, rs2564978, rs361525, rs1800450, rs1800871, rs1800872, rs1800896, rs1800629). Possessing G vs. A allele in two SNPs (rs3786054 and rs8070740) was associated with a threefold increase in the chance of mild flu when compared to flu-negative patients (95% CI: 1.1, 22.0). Possessing C allele (vs. A) in the rs9856661 locus also increased the chance of mild flu up to 2 folds (95% CI: 1.0, 10.0).ConclusionThe results showed that possessing the G allele in either rs3786054 or rs8070740 loci in C1QBP and RPAIN genes, respectively, increased the risk of H1N1 infection up to 3.3 folds, regardless of the patient’s age, BMI, diabetes, and hypercholesterolemia. Complementary functional genomic studies would shed more light on the underlying mechanism of human immunity associated with these genetic markers. The identified genetic factors may have the same role in susceptibility to similar respiratory infections with RNA viruses, like SARS, MERS and COVID-19. Future genetic association studies targeting these RNA viruses, especially COVID-19 is recommended. Studies on other ethnic groups would also shed light on possible ethnic variations in genetic susceptibility to respiratory RNA viruses.Trial registryIR.PII.REC.1399.063