Ask about this productRelated genes to: PPIL6 antibody
- Gene:
- PPIL6 NIH gene
- Name:
- peptidylprolyl isomerase like 6
- Previous symbol:
- -
- Synonyms:
- bA425D10.6, MGC41939, dJ919F19.1, RSPH12
- Chromosome:
- 6q21
- Locus Type:
- gene with protein product
- Date approved:
- 2003-06-24
- Date modifiied:
- 2016-04-25
Related products to: PPIL6 antibody
Related articles to: PPIL6 antibody
- In the United States, sickle cell disease (SCD) is a rare inherited hemoglobinopathy affecting about 100,000 individuals, mostly with African ancestry. SCD causes damage to multiple organ systems and SCD nephropathy (SCDN) is a common complication associated with early mortality. We previously performed a genome-wide association study (GWAS) for SCDN and identified a modest number of genome-wide significant loci. Here, we leveraged the ancestral composition of participants from two well-characterized adult SCD cohorts to boost statistical power and perform a local ancestry-aware GWAS for estimated glomerular filtration rate (eGFR), resulting in the identification of novel genome-wide significant loci within the African (AFR) and European (EUR) ancestral components of participants. Meta-analysis identified 12 significant genomic regions in the AFR tract, including PPIL6, ARHGAP24, RAB11A, and STEAP3, and 38 regions in the EUR tract, including UBLCP1, ADAMTS6, JAZF1, MYO7B, MYO1C, PDGFA, GPC5, LRP1B, KANK1, and TRPV5. The identified regions encompass genes affecting inflammation, extracellular matrix (ECM) integrity, iron metabolism, magnesium ion homeostasis, B cell apoptosis, tumor necrosis factor (TNF) production, and estrogen signaling. Many of these genes and pathways are important not only for renal function, but also for SCD biology, providing additional support for the hypothesis that SCDN pathophysiology is unique from other forms of kidney disease. This study represents the largest local ancestry-aware analysis of SCDN to date, furthers our understanding of the genetic risk factors underlying SCDN, and proposes new targets that could be useful for the early identification and treatment of kidney dysfunction in SCD patients. - Source: PubMed
Publication date: 2026/08/19
Garrett Melanie ENouraie Seyed MehdiMachado Roberto FGordeuk Victor RGladwin Mark TTelen Marilyn JAshley-Koch Allison ETOPMed Nhlbi Trans-Omics For Precision Medicine - Genetic regulation of splicing uniquely contributes to trait-associated genome-wide association studies (GWAS) signals. However, quantitative trait loci (QTL) analysis using short-read sequencing of bulk tissues fails to capture full-length and cell-type-specific isoforms. Here, we present an isoform-level lung cell atlas from 129 never-smoking Korean women using single-cell long-read RNA-sequencing, identifying abundant unannotated and cell-type-specific isoforms. Isoform-level signatures of 37 lung cell types display a larger difference and therefore improve cell-type classification compared to gene-level expression. Notably, isoform-QTLs (isoQTLs) detect unannotated and/or cell-type-specific isoforms with independent genetic regulation from expression-QTL (eQTL), supported by enriched splicing functional elements. IsoQTLs nominate susceptibility isoforms from previously unexplained lung function and cancer GWAS loci, via eQTL-independent signals. We highlight a potentially functional novel variant of in multiciliated cells underlying lung cancer risk through alternative splicing. This isoform-level resource advances our understanding of cell-type-specific isoform regulation and its contribution to lung traits and diseases. - Source: PubMed
Publication date: 2026/03/30
Li BolunLuong ThongSisay EleltaYin JinhuZhang Zixuan EleanorVaziripour MaryamShin Ju HyeZhao YongmeiTran BaoByun JinyoungLi YafangLee Chia HanO'Neill MauraAndresson ThorkellChang Yoon SooGazal StevenLandi Maria TeresaRothman NathanielLong ErpingLan QingAmos Christopher IZhou Anny XiaoboZhang TongwuLee Jin GuShi JianxinMancuso NicholasXia JunZhang HaoyuKim Eun YoungChoi Jiyeon - Epithelial ovarian cancer (EOC) is the deadliest gynecologic cancer, due to asymptomatic early stages, vague symptoms in later stages, and limited clinical tools. Despite distinct clinicopathologic features, all EOC histotypes typically receive identical primary treatment, and are often studied as a single entity. - Source: PubMed
Publication date: 2026/01/28
Werner LucasIttner EllaSwenson HugoRönnerman Elisabeth WernerMateoiu ClaudiaKovács AnikóDahm-Kähler PernillaKarlsson PerParris Toshima ZHelou Khalil - Asthenozoospermia (ASZ) accounts for about 20-40% of male infertility, and genetic factors, contributing to 30-40% of the causes of ASZ, still need further exploration. Radial spokes (RSs), a T-shaped macromolecular complex, connect the peripheral doublet microtubules (DMTs) to a central pair (CP), forming a CP-RS-DMT structure to regulate the beat frequency and amplitude of sperm flagella. To date, many components of RSs and their functions in human sperm flagella remain unclear. - Source: PubMed
Publication date: 2025/01/23
Hu TingwenyiTang XiangrongRuan TiechaoLong ShunhuaLiu GuicenMa JingLi XueqiZhang RuoxuanHuang GuoningShen YingLin Tingting - Obesity is a risk factor for increased morbidity and mortality in viral respiratory infection. Mucociliary clearance (MCC) in the airway is the primary host defense against viral infections. However, the impact of obesity on MCC is unclear, prompting this study. Using murine tracheal tissue culture and in vitro influenza A virus (IAV) infection models, we analyzed cilia-driven flow and ciliary beat frequency (CBF) in the airway epithelium to evaluate MCC. Short-term IAV infection increased cilia-driven flow and CBF in control mice, but not in high-fat diet-induced obese mice. Basal cilia-driven flow and CBF were also lower in obese mice than in control mice. Mechanistically, the increase of extracellular adenosine triphosphate (ATP) release during IAV infection, which was observed in the control mice, was abolished in the obese mice; however, the addition of ATP increased cilia-driven flow and CBF both in control and obese mice to a similar extent. In addition, RNA sequencing and reverse transcription-polymerase chain reaction revealed the downregulation of several cilia-related genes, including , , and (the dynein-related genes); (the polychaete differentiation gene); (the ciliogenesis and intraflagellar transport gene); , , and (the radial spoke structure and assembly gene); and (the nexin-dynein regulatory complex genes) in obese murine tracheal tissues compared with their control levels. In conclusion, our studies demonstrate that obesity attenuates MCC under basal conditions and during IAV infection by downregulating the expression of cilia-related genes and suppressing the release of extracellular ATP, thereby increasing the susceptibility and severity of IAV infection. Our study shows that obesity impairs airway mucociliary clearance (MCC), an essential physical innate defense mechanism for viral infection. Mechanically, this is likely due to the obesity-induced downregulation of cilia-related genes and attenuation of extracellular ATP release. This study provides novel insights into the mechanisms driving the higher susceptibility and severity of viral respiratory infections in individuals with obesity. - Source: PubMed
Publication date: 2024/08/06
Tanaka YukoFujisawa TomoyukiYazawa ShusukeOhta IsaoTakaku YasuharuIto MasahikoInoue YusukeYasui HidekiHozumi HironaoKarayama MasatoSuzuki YuzoFuruhashi KazukiEnomoto NoriyukiSetou MitsutoshiInui NaokiSuzuki TetsuroSuda Takafumi