Pax4 EMSA Kit
- Known as:
- Pax4 EMSA Kit
- Catalog number:
- AY1137
- Product Quantity:
- 25 rxn
- Category:
- -
- Supplier:
- Panomics
- Gene target:
- Pax4 EMSA Kit
Related genes to: Pax4 EMSA Kit
- Gene:
- PAX4 NIH gene
- Name:
- paired box 4
- Previous symbol:
- -
- Synonyms:
- MODY9
- Chromosome:
- 7q32.1
- Locus Type:
- gene with protein product
- Date approved:
- 1993-04-07
- Date modifiied:
- 2015-08-25
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- Type 1 diabetes (T1D) results from autoimmune-mediated destruction of pancreatic β-cells, leading to insulin deficiency and chronic hyperglycemia. β-cell replacement represents a promising therapeutic strategy, yet the identification of a sustainable and immune-compatible cell source remains a major challenge. Here, we explore the potential of the gastrointestinal (GI) epithelium as an alternative source of β-cells through in vivo cellular reprogramming. Given the large size and highly regenerative nature of the GI tract, partial reprogramming could provide a renewable source of insulin-producing (insulin) cells. We demonstrate that ectopic expression of is sufficient to convert gut endocrine L-cells into insulin cells in vivo. Phenotypic analyses reveal that these gut-derived cells express key β-cell markers, components of the glucose-sensing machinery, and properly process proinsulin into mature insulin. Functional studies using organoids derived from -expressing gut epithelium further demonstrate that these cells display glucose-responsive insulin secretion. Collectively, our findings highlight the plasticity of gut endocrine cells and support the feasibility of generating β-like cells from the GI epithelium, providing a potential avenue for the development of alternative cell-based therapies for T1D. - Source: PubMed
Publication date: 2026/03/19
Ayachi ChaïmaNapolitano TizianaSilvano SerenaGiorgetti-Peraldi SophieMansouri AhmedRapetti-Mauss RaphaëlFofo HugoLepage ValentinEtasse LauraTreins CarolineTran LoanCollombat Patrick - The global distribution and frequency of maturity onset diabetes of the young (MODY) vary, necessitating investigation across diverse ethnic groups. This study aimed to investigate MODY gene variants and phenotypic characteristics among young Bangladeshi individuals with nonobese, nonautoimmune youth-onset diabetes. Fifty participants with diabetes (onset < 35 years, BMI < 25 kg/m², negative for islet autoantibodies, detectable C-peptide, and a family history of DM) and 50 young individuals with normoglycemia were enrolled. Targeted next-generation sequencing (NGS) was performed on a panel of 14 known MODY genes. Candidate MODY-gene variants were identified in 20% (10/50) of the diabetes cohort. There were 11 heterozygous missense variants across eight genes: HNF1A, PDX1, NEUROD1, KLF11, PAX4 (three variants), BLK, ABCC8 (two variants), and KCNJ11. No variants met the ACMG/AMP criteria for ‘Pathogenic’ or ‘Likely Pathogenic’ classification; all identified variants were categorized as variants of uncertain significance (VUS). No significant phenotypic differences were observed between individuals with diabetes who carried identified variants and those who did not. In conclusion, this study identified candidate MODY variants (all classified as VUS) in one-fifth of the Bangladeshi nonobese, nonautoimmune youth-onset diabetes cohort. These findings provide a preliminary indication of a distinct genetic pattern characterized by a low frequency of common variants and a relative abundance of variants in rare MODY-associated genes. These findings are hypothesis-generating and highlight potential genetic targets for future functional validation to confirm pathogenicity and to support definitive MODY diagnoses. - Source: PubMed
Publication date: 2026/03/17
Hasan MashfiqulSultana NusratShil Kishore KumarAbdus-Salam Sayad BinNayem Maksudur RahmanOliver MerinaPadinjyarekara AswathiGolani TamannaRabbi Mohammad Fazle AlamSalimullah MdAkhteruzzaman SharifHasanat Muhammad Abul - The RNA-binding proteins TIAR and TIA1 have been reported to affect beta-cell insulin production and viability. The missense E384K TIA1 autosomal dominant mutation is known to cause Welander distal myopathy. This study aimed to study the effects of the TIA1 E384K mutation in human insulin-producing EndoC-βH1 cells. The prime editing technique was used to generate EndoC-βH1 cell clones with the homozygous E384K TIA1 mutation. The E384K TIA1 mutation did not affect high glucose + palmitate-induced stress granule formation and cell death. Instead, the mutated cells respired and proliferated faster than wild-type cells. This was paralleled by a higher MYC mRNA and protein level, a profoundly reduced GLP-1 receptor mRNA expression, increased expression of "disallowed" beta cell genes, a proinsulin-to-insulin processing defect, a decreased insulin content and release, a decreased PAX4/ARX mRNA ratio, and an increased glucagon production. The TIA1 mutation reduced MYC mRNA binding to TIA1. Downregulation of MYC mRNA levels normalized insulin/glucagon and PAX4/ARX mRNA ratios. Long-term treatment of TIA1-mutated cells with the GLP-1R agonist liraglutide restored insulin production and reversed beta cell dedifferentiation. It is concluded that the TIA1 E384K mutation, via increased MYC levels and cell proliferation rates, causes beta cell dedifferentiation. Thus, dysfunction of RNA-binding proteins may, at least in certain cases, contribute to the impaired insulin production observed in diabetes. A better understanding of RNA-binding protein-mediated control of beta cell differentiation, and the protective impact of GLP-1 receptor agonism, could facilitate the development of new treatment strategies in diabetes. - Source: PubMed
Publication date: 2026/03/03
Zhao TongjianCen JingWang XuanYang MingyuLau JoeyTengholm AndersSjöholm ÅkeWelsh Nils - Paired box () genes encode a family of nine transcription factors that function as master regulators of embryogenesis, organogenesis, and lineage specification. Their tightly regulated spatial and temporal expression is essential for the development of multiple organ systems, including the central nervous system, eyes, kidneys, immune system, musculoskeletal system, and endocrine organs. Germline mutations of genes result in a broad and often pleiotropic spectrum of human disease, reflecting the developmental programs governed by each family member. Pathogenic variants in genes underlie diverse congenital disorders such as aniridia (), renal coloboma syndrome (), otofaciocervical syndrome with immunodeficiency (), Waardenburg syndrome (), maturity-onset diabetes of the young (), and tooth agenesis (). These conditions frequently demonstrate variable expressivity, incomplete penetrance, and overlapping phenotypes, which make it challenging to be clinically recognized. Beyond embryogenesis and embryologic development, emerging evidence indicates that several PAX proteins remain active in postnatal tissue maintenance, adult stem cell regulation, immune function, and regenerative responses (particularly PAX7 in skeletal muscle satellite cells and PAX5 in B-cell homeostasis), further expanding their clinical relevance. This review provides a synopsis of the major, clinically relevant, germline gene mutations, emphasizing genotype-phenotype correlations, developmental mechanisms, and disease classification across the organ systems. By integrating molecular genetics with human pathology, we highlight the diagnostic implications of genes as central determinants of congenital disease and provide a framework for understanding how alterations in the developmental transcriptional networks translate into human pathology. - Source: PubMed
Publication date: 2026/02/23
Gomez Valentina LopezWegner SamanthaOcejo StephaniePerez DezarayJabbour DianaFernandez VirginiaAbulaban AmrBahmad MarwanElajami Tarec KAbou-Kheir WassimBahmad Hisham F - Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes. MODY type 9 (MODY9) is a rare subtype caused by variants in the gene. However, the pathogenicity and mechanisms of many variants remain unclear. This study aimed to evaluate the clinical relevance and pathogenic mechanisms of three novel variants identified in patients with suspected MODY. - Source: PubMed
Publication date: 2025/12/31
Chen XinyuTian YangWu WanhongLiu LunaWu HuixiaoZhang YidanSuo NingXu Chao