C7orf16
- Known as:
- C7orf16
- Catalog number:
- 003245A
- Product Quantity:
- 250ul
- Category:
- -
- Supplier:
- ABM
- Gene target:
- C7orf16
Related genes to: C7orf16
- Gene:
- PPP1R17 NIH gene
- Name:
- protein phosphatase 1 regulatory subunit 17
- Previous symbol:
- C7orf16
- Synonyms:
- GSBS
- Chromosome:
- 7p14.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-03-24
- Date modifiied:
- 2016-10-05
Related products to: C7orf16
Related articles to: C7orf16
- Copy number variation (CNV), including genomic gains or losses of DNA segments ranging from kilobases to megabases, represents a major source of genetic diversity and can substantially alter gene dosage, regulation, and phenotype. Although CNVs have been catalogued across many dog breeds in prior large-scale efforts, breed-specific CNVs, defined as copy-number changes that are highly prevalent within one breed but rare or absent across others, have not been systematically investigated. To address this gap, we analyzed whole-genome sequencing data from 436 dogs representing 105 modern breeds and constructed a high-resolution catalog of breed-specific CNVs. - Source: PubMed
Publication date: 2026/04/27
Wang ShiyingLi ZichengBargmann WalkerChen ZhiyuanGruen JefferyHoh Josephine - Heterozygous familial hypercholesterolemia (FH), a monogenic cause for premature coronary artery disease (CAD) is often underdiagnosed. In individuals who meet the FH diagnostic criteria and lack pathogenic variants, polygenic factors are recognized as potential contributors. This study aimed to characterize the spectrum of genetic variants and determine the low-density lipoprotein polygenic risk score (LDL-PRS) among clinically diagnosed FH participants from South India. We recruited 116 unrelated participants with a pretreatment LDL- C concentration ≥ 190 mg/dl and a DLCN (Dutch Lipid Clinic Network) score ≥ 3. Targeted next-generation sequencing (NGS) of 23 lipid related genes and 12-SNP (Single nucleotide polymorphism) genotyping were performed. NGS identified 39 variants including 13 pathogenic and 26 variants of unknown significance (VUS) some of which were in non-classical genes: ABCG5, ABCG8, APOE, PPP1R17, SREBF2. Pathogenic variants were detected in 66.7% of those with definite FH,19.7% in probable FH and 2.7% in possible FH. Overall,66% were variant negative. Among variant negative (FH/V-) participants, 64% demonstrated high LDL-PRS, whereas 70% of variant positive participants also exhibited elevated scores; suggesting a contributory role of polygenic factors across both groups. Additionally, the observation that variant positive individuals with high LDL-PRS have an increased risk of coronary artery disease (CAD) adds important nuance to risk stratification within genetically confirmed FH patients. Confirmation of diagnosis by genetic testing is essential for the diagnosis of FH. Although LDL-PRS may offer little benefit in variant negative cases and improve CAD risk prediction in variant positive individuals, large scale studies are essential to validate its clinical utility and assess whether inclusion of additional LDL- raising SNPs could enhance the detection of polygenic FH in the Indian population. - Source: PubMed
Publication date: 2026/02/28
Abraham NithyaP Praveen VMenon UshaBhavani NishaNair VasanthaFutema MartaBhaskaran RenjithaMenon RameshSekhar SaritaKrishnan SajithaKumar HarishNair Devaki R - Pituitary adenomas constitute up to 20% of primary brain tumors, yet somatic mutations are only found in 15% of pituitary adenomas. Epigenomic dysregulation has been proposed as a tumorigenic mechanism in pituitary adenomas causing Cushing's disease (CD). We created paired datasets of human CD adenomas and en-route margin adult human pituitary glands and assayed their chromatin accessibility, DNA methylation, transcriptomic, proteomic and phospho-proteomic landscapes. In CD adenomas, we found epigenetic reactivation of a neurodevelopmental phosphoprotein program typically lost in the post-natal pituitary gland. CD cells overexpressed , a potent endogenous inhibitor of the ubiquitous protein phosphatase PP2A. Mechanistically, overexpression in normal murine pituitary cells recapitulated the adenoma phenotype, and PPP1R17-mediated tumorigenesis was reversible using an FDA-approved small molecule PP2A agonist both in-vitro and in-vivo. Our findings highlight aberrant peptide phosphorylation as a targetable mechanism in CD. - Source: PubMed
Publication date: 2026/07/28
Asuzu David TBhatt DhruvalMullaney DustinMandal DebjaniNwokoye DianaVarghese SheeluLopez Daniela TortozaRamavenkat NikhilJohnson KoryElkahloun AbdelAbdullaev ZiedAldape KennethMaric DraganQuignon ClarisseMalik Nasir SSteiner Joseph PLi YanWray SusanTatsi ChristinaNieman Lynnette KChittiboina Prashant - Stroke is a vital cause of death worldwide. Ischemic stroke, a predominant type, is characterized by a sudden blockage of blood vessels supplying the brain, causing loss of blood flow. Restoring blood flow and oxygen in ischemic areas is the principal clinical treatment for ischemic stroke. Nevertheless, this process brings cerebral ischemia-reperfusion injury, which restrains the therapeutic effect on ischemic stroke. Plumbing the pathogenesis of brain injury and ischemia-reperfusion injury induced by ischemic stroke is crucial for improving stroke treatment. In this study, we analyzed differentially expressed genes in the penumbra of ischemic and ischemia-reperfusion rat brain tissue using transcriptome sequencing and screened out a gene PPP1R17 associated with mitophagy. We found that cerebral ischemia and ischemia-reperfusion induced PPP1R17 aggravated brain injury by repressing mitophagy. Mechanistically, PPP1R17 induces YAP1 phosphorylation by limiting the phosphatase activities of PP1 and PP2A and inhibits the activation of Pink1 and Parkin transcription by YAP1 as a transcriptional coregulator. In conclusion, PPP1R17 may serve as a potential therapeutic target for ameliorating cerebral ischemia and cerebral ischemia-reperfusion induced brain injury. - Source: PubMed
Publication date: 2025/11/24
Ma MingYang JiahuiLi ZhengShi XiaohuaXu Zhongxin - Ankyrin repeat and FYVE domain containing 1 (ANKFY1) is an indispensable protein in the development of cerebellar Purkinje cells. Our preliminary study revealed that its absence caused progressive spastic ataxia, accompanied by the loss of Purkinje cells in mice. Here, we generated Ankfy1-floxed (Ankfy1) mice, in which conditional inactivation of the Ankfy1 gene was achieved specifically in cerebellar Purkinje cells via crossing with a transgenic mouse strain expressing Cre recombinase under the regulatory control of the Purkinje cell protein 2 (PCP2) promoter. We employed data-independent acquisition (DIA) mass spectrometry to compare the protein expression profiles in cerebellar samples. The samples were obtained from two groups of male mice. The first group consisted of three Pcp2-Cre; Ankfy1 male mice, where the Ankfy1 gene was conditionally knocked out in Purkinje cells, and these mice were designated as the conditional knockout (CKO) group. The second group included three Cre-negative; Ankfy1 littermate male mice served as the wild-type (WT) control group. The results identified 69 (45 upregulated and 24 downregulated) differentially expressed proteins (DEPs) in CKO vs. WT male mice with a 1.5-fold change. Enrichment analyses of these DEPs based on the Gene Ontology (GO), Orthologous Groups of Proteins (COG), and Kyoto Encyclopedia of Genes and Genomes (KEGG) databases revealed functional clusters associated with neuronal cell morphogenesis, extracellular structures, regulation of Rho-GTPase, calcium signaling pathway, etc. Itgb2, which was upregulated in CKO mice, was the top hub gene according to protein-protein interaction (PPI) analysis. We selected seven interesting differentially expressed genes (Arhgdib, Impa2, Pcp2, Pcp4, Ppp1r17, Rhobtb2, and Cdc123) for further validation. Arhgdib and Imp2a expression was increased in the cerebellum of CKO male and female mice, and Pcp2 and Pcp4 expression was decreased. Western blotting and immunofluorescence verified the upregulation of ARHGDIB and the downregulation of PCP2 in the cerebellum. Our proteomic analysis of conditional Ankfy1 knockout mice may guide future research to help develop treatments for progressive spastic ataxia. - Source: PubMed
Publication date: 2025/07/01
Fu RongDing ManYin TongZheng LinlinLiu YueYu HangZhou RumengLu Zuneng