Ask about this productRelated genes to: HHAT antibody
- Gene:
- HHAT NIH gene
- Name:
- hedgehog acyltransferase
- Previous symbol:
- -
- Synonyms:
- FLJ10724, MART-2, MART2, Skn, ski, rasp, sit, GUP2
- Chromosome:
- 1q32.2
- Locus Type:
- gene with protein product
- Date approved:
- 2004-09-15
- Date modifiied:
- 2016-10-05
Related products to: HHAT antibody
Related articles to: HHAT antibody
- Alzheimer's disease (AD) is the most common neurodegenerative disease with unclear regulatory mechanisms at the cell-type level. A multi-omics model called single nucleotide polymorphisms (SNPs)-transcriptomic-single-nucleus ribonucleic acid sequencing (snRNA-seq) integration (STSNI) is proposed to identify SNPs-related biomarkers and regulatory mechanisms in AD. Differential expression analysis identified differentially expressed genes (DEGs) between AD patients and healthy controls (HCs) in the GSE118553 dataset. Cell-type annotation in the GSE138852 dataset revealed several cell subclusters, and DEGs were identified within these subclusters. Intersection analysis among DEGs from the GSE118553 dataset, cell-subcluster-specific DEGs from the GSE138852 dataset, and SNP-associated genes from the ADNI2 dataset yielded 14 overlapping genes. Using the least absolute shrinkage and selection operator (LASSO) and support vector machine-recursive feature elimination (SVM-RFE) algorithms, six biomarkers were identified. Functional enrichment and gene set enrichment analysis (GSEA) linked these biomarkers to pathways such as carboxylic acid catabolic process, exocytic vesicle membrane, and carbon metabolism. Meanwhile, six cell types were identified, including astrocytes, endothelial cells, oligodendrocytes, oligodendrocyte progenitor cells (OPCs), microglia, and neurons. The biomarker-transcription factor (TF) network indicated that Cispb M4676 regulates IQGAP2, NRXN1, GRIA3 and FGF14. Overall, our study identified six SNP-related biomarkers (IQGAP2, HHAT, FGF14, CTNNA3, GRIA3, and NRXN1) associated with AD. The STSNI framework provided novel insights into the cellular and molecular mechanisms underlying AD. Significance Statement: As the global population continues to age, Alzheimer's disease (AD) has emerged as a major public health concern. The pathological changes associated with AD include the formation of extracellular amyloid plaques, intracellular neurofibrillary tangles, and neuronal loss with gliosis proliferation. Bioinformatics methods are used to explore the immune infiltration characteristics, biological pathways and regulatory mechanisms of single nucleotide polymorphisms (SNPs) related key genes in AD. The pathogenesis of AD from the overall level and single-cell level is explored based on SNPs-related genes, combined with snRNA-seq data and transcriptome data. This study provides an opportunity for the discovery of novel diagnostic molecular markers and potential treatment targets to serve as the foundation for the development of more effective management techniques for AD. - Source: PubMed
Publication date: 2025/12/11
Sheng JinhuaWang LuyunZhang QiaoChien Chou Jay TsaiZhang RongLi TaoLu Yan - Orofacial clefts (OFCs) are the most common craniofacial birth defects, affecting 1 in 700 births, and have a strong genetic basis with a high recurrence risk within families. - Source: PubMed
Curtis Sarah WCook Laura EParaiso KittVisel AxelCotney Justin LMurray Jeffrey CBeaty Terri HMarazita Mary LCarlson Jenna CLeslie-Clarkson Elizabeth J - Nivelon-Nivelon-Mabille syndrome (NNMS, #600092) is an extremely rare genetic disorder characterized by microcephaly, central nervous system abnormalities, skeletal anomalies, and 46,XY disorders of sex development. It is caused by biallelic variants in the HHAT gene, which encodes the Hedgehog acyltransferase (HHAT) protein. To date, only eight patients with NNMS have been reported in the literature. In this study, four new patients from two unrelated families were presented, exhibiting distinct phenotypic features including 46,XY gonadal dysgenesis, microcephaly, microphthalmia, ocular coloboma, skeletal dysplasia, and cerebellar vermis hypoplasia. Ptosis and marked visual impairment were present only in the current study. NNMS was considered with the present clinical and radiological findings for four patients, and whole exome analysis revealed three novel variants of the HHAT gene. In silico analyses were performed to provide insights into the structural and functional effects of these genetic variants on the HHAT protein. Accurate diagnosis is crucial for increasing clinical awareness and offering genetic counseling to affected families. - Source: PubMed
Publication date: 2025/05/06
Arı Ayşe Burcu DoğanArı HasanTürkyılmaz AyberkTeralı KeremBüyükyılmaz GönülErdeve Şenay SavaşKılıç Esra - Chimeric antigen receptor (CAR) T cell immunotherapy represents a breakthrough in the treatment of hematological malignancies, but poor specificity has limited its applicability to solid tumors. By contrast, natural T cells harboring T cell receptors (TCRs) can discriminate between neoantigen-expressing cancer cells and self-antigen-expressing healthy tissues but have limited potency against tumors. We used a high-throughput platform to systematically evaluate the impact of co-expressing a TCR and CAR on the same CAR T cell. While strong TCR-antigen interactions enhanced CAR activation, weak TCR-antigen interactions actively antagonized their activation. Mathematical modeling captured this TCR-CAR crosstalk in CAR T cells, allowing us to engineer dual TCR/CAR T cells targeting neoantigens (HHAT/p53) and human epithelial growth factor receptor 2 (HER2) ligands, respectively. These T cells exhibited superior anti-cancer activity and minimal toxicity against healthy tissue compared with conventional CAR T cells in a humanized solid tumor mouse model. Harnessing pre-existing inhibitory crosstalk between receptors, therefore, paves the way for the design of more precise cancer immunotherapies. - Source: PubMed
Publication date: 2025/04/11
Kondo TaisukeBourassa François X PAchar SoorajDuSold JustynCéspedes Pablo FAndo MakotoDwivedi AlkaMoraly JosquinChien ChristopherMajdoul SalihaKenet Adam LWahlsten MadisonKvalvaag AudunJenkins EdwardKim Sanghyun PAde Catherine MYu ZhiyaGaud GuillaumeDavila MarcoLove PaulYang James CDustin Michael LAltan-Bonnet GrégoireFrançois PaulTaylor Naomi - Osteosarcoma is the most common primary bone cancer with a high propensity for local invasion and metastasis. An increasing number of research studies show that telomeres play an important role in the occurrence and development of cancer. Thus, we established a telomere-related signature in osteosarcoma to comprehensively evaluate the pathogenic roles of telomeres in this disease. - Source: PubMed
Publication date: 2025/01/27
Li ShihaoZhang LinaZhang Haiyang