SMAD6 Antibody
- Known as:
- SMAD6 Antibody
- Catalog number:
- BIN-004091-M02
- Product Quantity:
- 0.1mg
- Category:
- -
- Supplier:
- Zyagen
- Gene target:
- SMAD6 Antibody
Related genes to: SMAD6 Antibody
- Gene:
- SMAD6 NIH gene
- Name:
- SMAD family member 6
- Previous symbol:
- MADH7, MADH6
- Synonyms:
- HsT17432
- Chromosome:
- 15q22.31
- Locus Type:
- gene with protein product
- Date approved:
- 1997-08-22
- Date modifiied:
- 2015-08-26
Related products to: SMAD6 Antibody
Related articles to: SMAD6 Antibody
- Juvenile idiopathic arthritis (JIA) is a complex rheumatic disease that is influenced by environmental and genetic factors. Linkage studies and genome-wide association studies have identified genes that contribute to the risk of developing JIA but are limited in their ability to identify disease-risk variants of large effect. Penetrant, heritable risk variants can be detected in high-risk families, but such cases are uncommon due to the low prevalence of JIA. This study utilizes whole-genome sequencing of 23 multiplex families, the largest such cohort to date, to discover variants and genes relevant to JIA pathogenesis. Pathogenic variants in NOD2 associated with Blau syndrome, an ultra-rare Mendelian inflammatory disorder, are the most recurrent variants in the cohort, consistent with previous reports that milder presentations of Blau syndrome are oftentimes misdiagnosed as JIA. For the first time, however, rare variants in ACVR1 and SMAD6, integral components of the Bone Morphogenic Protein (BMP) pathway, are found to be associated with JIA. Identified ACVR1 variants map to critical protein domains. AlphaFold modeling predicts that the ACVR1 interaction with its inhibitor OGT is disrupted by these variants, indicating that the patient-mutated protein has a gain-of-function phenotype. Drosophila melanogaster expressing either a wild-type or patient-mutated version of ACVR1 exhibit embryonic lethality, with the mutant exhibiting 1.4-fold greater lethality than wild-type. The combination of family-based cohorts for gene discovery, AI-based computational tools, and animal model studies for tests of variant function underscores shared disease pathogenesis between JIA and monogenic disorders of immunity and connective tissue. - Source: PubMed
Publication date: 2026/07/17
Avery Cecile NHernandez Edgar JKazuko Sandy GBohnsack John FSudman MarcPrahalad SampathRadmall KaitlinHersh Aimee OLetsou AntheaJorde Lynn B - Young-onset lung cancer is enriched for never-smoking and oncogene-driven tumors, yet its inherited genetic basis remains poorly defined. We performed germline whole-genome sequencing in 251 young-onset lung cancer cases (median age 37), which we jointly analyzed with never-smoking cases (n=196; median age 68) and cancer-free controls (n=1,883). We identified enrichments of rare deleterious coding variants across 55 cancer-related gene sets, including signaling and genes implicated by prior lung cancer GWAS. Exome-wide analyses of rare coding variants affirmed as a penetrant lung cancer predisposition gene (odds ratio [OR]=36.1, p=1.02×10 ) and discovered two novel exome-wide significant tumor subtype-dependent associations: in cases with fusion-driven tumors (p=1.39×10 ) and in fusion-negative tumors (p=2.05×10 ). Structural variants contributed distinct risk, with enrichment in constrained, lung-expressed genes (OR=5.79, p=5.8×10 ) and very large germline deletions being markedly enriched in cases with fusion-driven tumors. Polygenic risk scores for lung cancer were inversely correlated with rare variant burden, consistent with additive risk from rare and common variants. Collectively, these findings delineate a complex germline architecture underlying susceptibility and molecular subtype in young-onset lung cancer. - Source: PubMed
Publication date: 2026/07/10
LoPiccolo JaclynCollins Ryan LFields NoahNakagawa CarterTaraszka KodiWang XinanSu LiKoeller Diane RSchwartz Alison LevinePollaci Alicia CharlestonYoung Sarah MWilliamson Victoria GAvila Jose AVoligny EmmaNguyen TomPangilinan Andy JErwin Richard MGitlitz Barbara JNovello SilviaOxnard Geoffrey RChukwueke Ugonma NBrastianos Priscilla KAizer Ayal AHatabu Mizuki NishinoFlorez NarjustHaigis Kevin MVan Allen Eliezer MNieva Jorge JGarber Judy EChristiani David CJänne Pasi AGusev Alexander - Postoperative peritoneal adhesion (PPA) is a common complication following abdominal surgery and effective preventive strategies remain limited. The present study aimed to investigate the protective effect of aspirin against PPA in rats and to elucidate the underlying mechanism involving the transforming growth factor‑β1 (TGF‑β1)/Smad signaling pathway. A total of 32 male Sprague‑Dawley rats were randomly divided into the four following groups: Sham‑operated group, model group, low‑dose aspirin group (10 mg/kg) and high‑dose aspirin group (30 mg/kg). A PPA model was established by cecal wall abrasion. The aspirin‑treated groups received daily intragastric administration for 8 consecutive days post‑surgery. All animals were euthanized on day 8. Adhesion severity was assessed using the Nair scoring system; histopathological changes were examined by Masson's trichrome staining; the expression levels of proteins related to the TGF‑β1/Smad pathway and to markers of fibrosis were detected by western blot, immunohistochemical (IHC) and reverse transcription‑quantitative PCR (RT‑qPCR) analyses. In addition, rat primary peritoneal mesothelial cells (RPMCs) were treated with different concentrations of aspirin to evaluate the expression levels of the relevant proteins. The results indicated that compared with the model group, aspirin administration significantly reduced PPA scores. Histological examination revealed that aspirin treatment alleviated collagen deposition in adhesion tissues. The results derived from western blotting, IHC and RT‑qPCR analyses demonstrated that aspirin downregulated the expression levels of TGF‑β1, phosphorylated (p)‑Smad2/3, alpha smooth muscle actin (α‑SMA) and collagen type I, alpha 1 (COL1A1), and inhibited the phosphorylation of Smad2/3. Moreover, treatment of RPMCs with different concentrations of aspirin led to a dose‑dependent decrease in the protein expression levels of TGF‑β1, COL1A1, α‑SMA, p‑Smad2 and p‑Smad3, while simultaneously upregulating the expression levels of the endogenous inhibitory factor Smad6 in this pathway. In conclusion, the data demonstrated that aspirin effectively prevented the formation of PPA in rats by suppressing peritoneal fibrosis, an effect likely mediated via inhibition of the TGF‑β1/Smad signaling pathway. These findings suggest that aspirin is a promising candidate for the clinical prevention of PPA. - Source: PubMed
Publication date: 2026/07/03
Yan SiqiRen YuanLiu BingyanXiong PaiSun Yimin - This study aimed to evaluate the association between genetic polymorphisms in the BMP2, BMP4, RUNX2, and SMAD6 genes and the presence of severe external apical root resorption (EARR) in orthodontic patients undergoing orthognathic surgery. EARR represents a significant adverse outcome in orthodontic treatments, and genetic susceptibility may influence its occurrence. A cross-sectional study was conducted with 158 orthodontic patients treated with fixed appliances and mono or bimaxillary orthognathic surgery. Postoperative panoramic radiographs were used to assess severe EARR. Genomic DNA was extracted from buccal epithelial cells. Seven single-nucleotide polymorphisms (SNPs) in the target genes were genotyped using real-time PCR with TaqMan assays. Statistical analyses were performed with Chi-square or Fisher's exact tests. No significant associations were observed for polymorphisms in BMP2 (rs1005464, rs235768), BMP4 (rs17563), RUNX2 (rs59983488, rs1200425), or SMAD6 (rs2119261). However, a significant association was found for SMAD6 rs3934908 (p < 0.05), with the CC genotype more frequent in patients with severe EARR. No deviations from the Hardy-Weinberg equilibrium were observed. The findings suggest that the SMAD6 rs3934908 polymorphism may be associated with an increased susceptibility to severe EARR in orthodontic surgery patients. While most SNPs showed no association, these results contribute to understanding the genetic factors involved in EARR. Further studies with larger samples are needed to confirm these findings and explore gene-environment interactions. - Source: PubMed
Publication date: 2026/06/26
Schröder Ângela Graciela DeligaKuczera Milena SampaioAraujo Cristiano Miranda deFreitas Veridiana Pereira de Sá deMeger Michelle NascimentoSantos Katheleen Miranda DosScariot RafaelaKüchler Erika CalvanoBaratto-Filho Flares - Exome sequencing (ES) has improved Mendelian disease diagnosis, but in consanguineous populations, biallelic variants in typically dominant genes remain underrecognized. This study characterized their clinical and molecular features and explored pathway-level patterns of dual inheritance. Exome data from 1450 individuals analyzed between 2022 and 2024 were retrospectively reviewed. Biallelic variants were filtered in genes annotated as autosomal dominant in OMIM. A pathway-based analysis using Gene Ontology and STRING identified functionally related genes, and those showing both dominant and recessive inheritance were further evaluated with gnomAD constraint metrics to explore shared mechanisms. Five consanguineous families carried biallelic variants in genes typically associated with dominant inheritance, accounting for ~3.1% of all homozygous pathogenic variants. Mechanisms included hypomorphic effects (TERC, ASH1L), semidominant dosage sensitivity (LRP5), structural or positional effects (FBN1), and complete loss of function with pleiotropy (SMAD6). Pathway analysis revealed dosage-sensitive dynamics in telomere maintenance, extracellular matrix, Wnt/BMP signaling, and histone modification, supporting dual-inheritance behavior driven by gene dosage and functional impact. Our findings show that genes labeled autosomal dominant can also cause disease biallelically, reflecting a dosage-sensitive continuum. Including such analyses in diagnostic pipelines, especially in consanguineous populations, can refine understanding of inheritance in rare disorders. - Source: PubMed
Publication date: 2026/06/18
Taşdelen ElifcanTekbaş Umut CanKolkıran AbdulkerimÇetinkaya SemraKılıç MustafaSezer Abdullah