CIB1 (h)
- Known as:
- CIB1 (h)
- Catalog number:
- 000655A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- CIB1 ()
Related genes to: CIB1 (h)
- Gene:
- CIB1 NIH gene
- Name:
- calcium and integrin binding 1
- Previous symbol:
- -
- Synonyms:
- SIP2-28, CIB, KIP
- Chromosome:
- 15q26.1
- Locus Type:
- gene with protein product
- Date approved:
- 2002-05-08
- Date modifiied:
- 2016-10-05
Related products to: CIB1 (h)
Related articles to: CIB1 (h)
- - Source: PubMed
Publication date: 2026/03/26
Boal FredericLezoualc'h Frank - Pathogenic cardiac hypertrophy, often driven by mechanical stress, is a leading cause of heart failure. However, effective therapeutic targets remain limited. TMC6 (transmembrane channel-like protein 6) is abundant in healthy myocardium but downregulated in hypertrophic hearts; its role in cardiac hypertrophy remains undefined. - Source: PubMed
Publication date: 2026/02/25
Wang HongkunYang ZongkuaiZhong BirouGong TingyuLiu DandanPan ZiweiShen JiaxiWang YangeFan XiaozhiZhang XiaotingGao FengFan HangpingGuo WenpuQiu HangyuanDong XiaoxuanCao YuhongChen JinghaiMa HongTang Yi-QuanLiang Ping - Hereditary epidermodysplasia verruciformis (EV) represents a paradigmatic inherited cutaneous syndrome linking viral susceptibility, immunity, and oncogenesis. Although biallelic variants in CIB1, TMC6, and TMC8-encoding components of the keratinocyte-intrinsic antiviral complex-underlie most cases, the full mutational spectrum and its oncologic implications remain incompletely defined. We performed integrated genomic, histopathological, and longitudinal clinical analyses in six affected individuals from five unrelated families with confirmed hereditary EV. Comprehensive short-read sequencing, copy-number assessment, and optical genome mapping (OGM) were used to delineate the underlying genetic alterations, followed by long-range PCR and Sanger validation. Pathogenic or likely pathogenic germline variants affecting TMC6 or TMC8 were identified in all probands, providing molecular confirmation of disease. Four variants were novel, including splice-site, frameshift, and in-frame deletions. In one proband, OGM revealed a previously unrecognised complex del-inv-del structural variant spanning both TMC6 and TMC8-the first reported example in hereditary EV. This rearrangement, confirmed at base-pair resolution, co-segregated with a synonymous TMC8 variant that served as a practical haplotypic marker for carrier testing. Clinically, all patients developed cutaneous squamous cell carcinoma (SCC), and several exhibited multifocal or aggressive disease, underscoring the deterministic malignant potential of hereditary EV. This study broadens the genetic and phenotypic spectrum of TMC6/TMC8-associated EV, establishes complex structural rearrangement in the molecular etiology, and consolidates hereditary EV as a recessive cancer predisposition syndrome. Integrating high-resolution genome mapping into diagnostic workflows may uncover concealed allelic architecture in unresolved hereditary cancer syndromes. - Source: PubMed
Publication date: 2026/02/18
Durmaz Ceren DamlaGüleray Lafcı NazErkan Dilsu DicleAkçin Ömer ÇağrıBulut NesibeKuş FatihAteş Özdemir DenizNeesen JürgenDremsek PaulDizdar Ömer - Epidermodysplasia verruciformis (EV) is a rare dermatologic disorder marked by an increased susceptibility to β-human papillomavirus infections and a heightened risk of cutaneous squamous cell carcinoma. While classically associated with autosomal recessive pathogenic variants in TMC6, TMC8, and CIB1, recent reports have expanded the disease spectrum to include acquired forms occurring in immunocompromised individuals, including those with human immunodeficiency virus/acquired immunodeficiency syndrome (HIV/AIDS), organ transplants, and autoimmune disease. Both inherited and acquired EV share similar clinical and histopathologic features: flat-topped or hypopigmented papules in sun-exposed areas and characteristic "blue cells" on biopsy. Advances in molecular diagnostics, such as RNA chromogenic in situ hybridization, allow for spatial detection of transcriptionally active human papillomavirus (HPV) within skin lesions. Although treatment remains largely symptomatic, topical and systemic retinoids, immunomodulatory agents, and HPV vaccines have shown variable success. Experimental strategies such as zinc supplementation and CRISPR/Cas9 gene-editing are under investigation and offer future therapeutic potential. This review highlights the evolving understanding of both genetic and acquired forms of EV and incorporates a comprehensive review of 47 inherited EV and 67 acquired EV publications. Cases were analyzed for demographic patterns, genotype-phenotype associations, and diagnostic trends with selected statistical testing to assess significant relationships. In classic and nonclassic EV cases, patients in the classic EV group were diagnosed at a significantly older age than those in the nonclassic group. In acquired EV (AEV), HIV-associated presentations occurred at significantly younger ages, and autoimmune-related AEV occurred primarily in female patients. There was a strong association between underlying disease and sex distribution. HIV-associated AEV predominantly affects males. - Source: PubMed
Publication date: 2026/02/06
Shen AnnabelSimonette Rebecca ARady Peter LTyring Stephen K - Heat stress has deleterious effects on flowering and yield of Tartary buckwheat. In this study, we compared the transcriptomes between thermo-sensitive MQ and adaptive KQ and XQ, in leaves and inflorescences. Compared with adaptive KQ and XQ, flowering genes like FtFT1, FtFT3 and MADS-Box, and developmental genes like PIF3, CIB1, CLAVATA3, YABBY, and HY5 were repressed in thermo-sensitive MQ leaf and inflorescence. Higher proportions of HSPs and HSFs were induced in thermo-sensitive MQ leaf and inflorescence. By using long-read sequencing, we identified DAS events on circadian clock, floral development and heat stress related genes between thermo-sensitive MQ and adaptive XQ. We found the DAS events on PIF, LHY, MADS-Box AGAMOUS and HSF genes generated malfunctional proteins. We speculated that the DAS events on key floral development and heat stress related genes may influence expressions of downstream flowering genes, thus leading to the flowering retardation in thermo-sensitive rice Tartary buckwheat. - Source: PubMed
Publication date: 2025/11/19
Guo HuihuiGao XiaoliLi Xiao'anWang LanLiao WenhuaBai XueWu Qi