Ask about this productRelated genes to: RANBP6 antibody
- Gene:
- RANBP6 NIH gene
- Name:
- RAN binding protein 6
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 9p24.1
- Locus Type:
- gene with protein product
- Date approved:
- 1999-12-22
- Date modifiied:
- 2015-09-02
Related products to: RANBP6 antibody
Related articles to: RANBP6 antibody
- Previous genomic efforts on chromosome 9p deletion and duplication syndromes have utilized low-resolution strategies (i.e., karyotypes, chromosome microarrays). These studies have provided important initial insights into these syndromes. This current study is the first large-scale whole-genome sequencing (WGS) study of 100 individuals from families with chromosome 9p syndromes. - Source: PubMed
Publication date: 2025/10/24
Wang YingxiSams Eleanor ISlaugh RachelCrocker SandraHurtado Emily CordovaTracy SophiaHou Ying-Chen ClaireMarkovic ChristopherValle KostandinTate VictoriaBelhassan KhadijaAppelbaum ElizabethAkinwe TitilopeStarosta Rodrigo TCao YangNeilson AmberLiu YuJensen NathanielGhasemi RezaLindsay TinaManuel JuanaCouteranis SophiaKremitzki MilinnUstanik JackAntonacci ThomasNg Jeffrey KEmory AndrewMetz LauraDeLuca TracieLyons Katherine NSinnwell ToniThomeczek BrianneWang KymmeSisneros NickMuraleedharan MeghaKethireddy AnanthaCorbo MarcoGowda HarshaKing Katherine AGurnett Christina ADutcher Susan KGooch CatherineLi Yang EMitchell Matthew WPeterson Kevin AHorani AmjadRosenfeld Jill ABi WeiminStankiewicz PawelChao Hsiao-TuanPosey Jennifer EGrochowski Christopher MDardas ZainPuffenberger Erik GPearson Christopher EKooy FrankAnnear DaleInnes A MicheilHeinz MichaelHead RichardFulton RobertToutain Stephan Antonacci-Fulton LucindaCui XiaoxiaMitra Robi DCole F SessionsNeidich JulieDickson Patricia IMilbrandt JeffreyTurner Tychele N - Pyroptosis plays a pivotal role in the pathogenesis of Heart Failure (HF). However, the current understanding of how pyroptosis-related genes (PRGs) influence HF is scarce. This study aimed to explore the link between PRGs and HF based on bioinformatics. - Source: PubMed
Publication date: 2025/07/14
Zhang JingYue ZhijieZhu NaZhao Na - Previous genomic efforts on chromosome 9p deletion and duplication syndromes have utilized low resolution strategies (i.e., karyotypes, chromosome microarrays). We present the first large-scale whole-genome sequencing (WGS) study of 100 individuals from families with 9p-related syndromes including 85 unrelated probands through the 9P-ARCH (dvanced esearch in hromosomal ealth: Genomic, Phenotypic, and Functional Aspects of -Related syndromes) research network. We analyzed the genomic architecture of these syndromes, highlighting fundamental features and their commonalities and differences across individuals. This work includes a machine-learning model that predicts 9p deletion syndrome from gene copy number estimates using WGS data. Two Late Replicating Regions (LRR1 [a previously un-named human fragile site], LRR2) were identified that contain most structural variant breakpoints in 9p deletion syndrome pointing to replication-based issues in structural variant formation. Furthermore, we show the utility of using WGS information to obtain a comprehensive understanding of 9p-related variation in an individual with complex structural variation where chromothripsis is the likely mechanism. Genes on 9p were prioritized based on statistical assessment of human genomic variation. Furthermore, through application of spatial transcriptomics to embryonic mouse tissue we examined 9p-gene expression in craniofacial and brain development. Through these strategies, we identified 24 important genes for the majority (83%) of individuals with 9p deletion syndrome including , , , , , , , and . Two genes (, ) are involved in mitochondrial function and testing of the mitochondrial genome revealed excess copy number in individuals with 9p deletion syndrome. This study presents the most comprehensive genomic analysis of 9p-related syndromes to date, with plans for further expansion through our 9P-ARCH research network. - Source: PubMed
Publication date: 2025/03/30
Wang YingxiSams Eleanor ISlaugh RachelCrocker SandraHurtado Emily CordovaTracy SophiaHou Ying-Chen ClaireMarkovic ChristopherValle KostandinTate VictoriaBelhassan KhadijaAppelbaum ElizabethAkinwe TitilopeTzovenos Rodrigo StarostaCao YangNeilson AmberLiu YuJensen NathanielGhasemi RezaLindsay TinaManuel JuanaCouteranis SophiaKremitzki MilinnUstanik JackAntonacci ThomasNg Jeffrey KEmory AndrewMetz LauraDeLuca TracieLyons Katherine NSinnwell ToniThomeczek BrianneWang KymmeSisneros NickMuraleedharan MeghaKethireddy AnanthaCorbo MarcoGowda HarshaKing KatherineGurnett Christina ADutcher Susan KGooch CatherineLi Yang EMitchell Matthew WPeterson Kevin AHorani AmjadRosenfeld Jill ABi WeiminStankiewicz PawelChao Hsiao-TuanPosey JenniferGrochowski Christopher MDardas ZainPuffenberger ErikPearson Christopher EKooy FrankAnnear DaleInnes A MicheilHeinz MichaelHead RichardFulton RobertToutain Stephan Antonacci-Fulton LucindaCui XiaoxiaMitra Robi DCole F SessionsNeidich JulieDickson Patricia IMilbrandt JeffreyTurner Tychele N - Familial cases of appendiceal mucinous tumours (AMTs) are extremely rare and the underlying genetic aetiology uncertain. We identified potential predisposing germline genetic variants in a father and daughter with AMTs presenting with pseudomyxoma peritonei (PMP) and correlated these with regions of loss of heterozygosity (LOH) in the tumours. - Source: PubMed
Publication date: 2020/05/01
Lung Mei SimMitchell Catherine ADoyle Maria ALynch Andrew CGorringe Kylie LBowtell David D L Campbell Ian GTrainer Alison H - Transport of macromolecules through the nuclear pore by importins and exportins plays a critical role in the spatial regulation of protein activity. How cancer cells co-opt this process to promote tumorigenesis remains unclear. The epidermal growth factor receptor (EGFR) plays a critical role in normal development and in human cancer. Here we describe a mechanism of EGFR regulation through the importin β family member RAN-binding protein 6 (RanBP6), a protein of hitherto unknown functions. We show that RanBP6 silencing impairs nuclear translocation of signal transducer and activator of transcription 3 (STAT3), reduces STAT3 binding to the EGFR promoter, results in transcriptional derepression of EGFR, and increased EGFR pathway output. Focal deletions of the RanBP6 locus on chromosome 9p were found in a subset of glioblastoma (GBM) and silencing of RanBP6 promoted glioma growth in vivo. Our results provide an example of EGFR deregulation in cancer through silencing of components of the nuclear import pathway. - Source: PubMed
Publication date: 2017/12/11
Oldrini BarbaraHsieh Wan-YingErdjument-Bromage HediyeCodega PaoloCarro Maria StellaCuriel-García AlvaroCampos CarlPourmaleki MaryamGrommes ChristianVivanco IgorRohle DanielBielski Craig MTaylor Barry SHollmann Travis JRosenblum MarcTempst PaulBlenis JohnSquatrito MassimoMellinghoff Ingo K