SMAD6
- Known as:
- SMAD6
- Catalog number:
- GTX108594
- Product Quantity:
- 100 µl
- Category:
- -
- Supplier:
- ACR
- Gene target:
- SMAD6
Related genes to: SMAD6
- 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
Related articles to: SMAD6
- Thoracic aortic dissection (TAD) associates with a high mortality rate. Treatment options are limited and mainly consist of surgical repair at critical aortic diameters as current pharmacological interventions are unable to stop disease progression. Despite the existence of different mouse models for thoracic aortic aneurysm (TAA) and TAD, the underlying disease mechanisms remain elusive. In humans, loss-of-function of SMAD3 or SMAD6 increases the risk for TAA. We therefore targeted both ohnologs of smad3 and smad6 in zebrafish in order to further investigate their contribution to aortic homeostasis. We found an increased diameter of the ventral aorta in smad3a;smad3b double knockout (smad3a/b DKO) zebrafish larvae, while smad6a;smad6b (smad6a/b DKO) zebrafish larvae have a reduced aortic diameter. Smad3a/b DKO survive normally to adulthood, but smad6a/b DKO die before the age of 8 months due to dissections and ruptures in the ventral aorta. Smad6a/b DKO zebrafish also show hypoplasia of the aortic arches and the distal part of the ventral aorta. Surprisingly, the smad3a;smad3b;smad6a;smad6b quadruple knockout (qKO) zebrafish model has normal survival and a milder vascular phenotype compared to the smad6a/b DKO. RNA sequencing of zebrafish larvae indicates upregulation of pathways related to melanogenesis, ribosome, blood vessel development and carboxylic acid transport, and downregulation of negative regulation of endopeptidase activity and immune system. Transcriptomic data of damaged aorta compared with healthy control aorta identifies significant differences in oxidative phosphorylation, mitochondrial function, extracellular matrix and the citrate cycle. In conclusion, data from our novel zebrafish models of thoracic aortic dissection and rupture indicate that SMAD3 function has an important modifying effect on the severe aortic manifestations induced by loss of SMAD6. - Source: PubMed
Publication date: 2026/08/12
Vanhooydonck MichielVerlee MaximSilva Marta SantanaPottie LoreBoel AnnekatrienVan Impe MatthiasDe Saffel HannaCaboor LisaBonnin AnneSegers PatrickDe Clercq AdelbertGansemans YannickVan Nieuwerburgh FilipSyx DelfienWillaert AndySips PatrickCallewaert Bert - The current evidence suggests that the formation of pulp stones (PS) has a genetic background. Therefore, the present study aimed to evaluate the association between PS in orthodontically treated patients and single nucleotide polymorphisms (SNPs) in the mineralization-related genes ( [, , , and [). - Source: PubMed
Publication date: 2026/08/06
Hemming Danielde Mattos de Araujo Bianca MarquesKirschneck ChristianScariot RafaelaPerin Camila PaivaSousa-Neto Manoel DFonseca-Souza GabrielaMattos Natanael Henrique RibeiroMeger Michelle NascimentoBaratto-Filho FlaresKüchler Erika Calvano - This study aimed to evaluate the association between single nucleotide polymorphisms (SNPs) in endochondral development-related genes and cranial base 3D phenotypes. - Source: PubMed
Publication date: 2026/07/21
Marañón-Vásquez Guido ArtemioTirre de Souza Araújo MônicaCarlos de Oliveira Ruellas AntônioMatsumoto Mírian Aiko NakaneChávez Alejandro David AvalosFigueiredo Marciode Oliveira Fernandes ThaísAntunes Lívia Azeredo AlvesLagravère Vich ManuelScariot RafaelaFlores-Mir CarlosKirschneck ChristianDos Santos Antunes LeonardoKüchler Erika Calvano - 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
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