SMAD6 antibody Ab Aff - Purified
- Known as:
- SMAD6 (anti-) Antibody Aff - Purified
- Catalog number:
- GTX108594
- Product Quantity:
- 0.1 ml
- Category:
- -
- Supplier:
- ACR
- Gene target:
- SMAD6 antibody Aff - Purified
Related genes to: SMAD6 antibody Ab Aff - Purified
- 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 Ab Aff - Purified
Related articles to: SMAD6 antibody Ab Aff - Purified
- Primary ovarian insufficiency (POI) is a fertility disorder with a well-established genetic component, but many cases still remain idiopathic. Approximately 1.5-12% of patients with POI can carry a variant in the BMP15 gene, depending on the population and the diagnostic criteria. We hypothesize that genetic variations within pathways downstream of BMP15 activity in ovarian granulosa cells (GCs) may contribute to unexplained cases of POI. The main goal of this study is to identify novel variants associated with POI in genes induced by BMP15 in GCs. - Source: PubMed
Publication date: 2026/08/26
Rossetti RaffaellaFornili MarcoMoleri SilviaFerrari IlariaGentilini DavideCarbone ErikaPaffoni AlessioSomigliana EdgardoBiganzoli EliaMarozzi AnnaBrancati FrancescoMoretti CostanzoGiuliani CristinaPersani Luca - SMAD6 encodes an inhibitory SMAD protein that modulates BMP and TGF-β signaling. Heterozygous pathogenic variants in SMAD6 have been primarily associated with aortic valve disease, radioulnar synostosis, and nonsyndromic sagittal and metopic synostosis. However, only two syndromic patients with biallelic variants have been reported in the literature. We report a 4-year-old girl with neurodevelopmental delays, dysmorphic features, complex congenital heart disease, renal asymmetry, and arterial tortuosity. Whole exome sequencing showed two homozygous SMAD6 variants of uncertain significance: c.161G>T (p.Gly54Val) and c.1A>G (p.Met1?). This is the third patient with biallelic SMAD6 variants associated with skeletal changes, more complex cardiovascular phenotype, facial dysmorphism, and novel arterial abnormalities. This suggests biallelic variants may cause a distinct and potentially more severe autosomal recessive syndrome. Functional investigation is needed to determine the molecular consequences of biallelic SMAD6 variants and to inform variant classification and mechanism. This report characterizes a potential unique genetic syndrome associated with biallelic SMAD6 variants, highlighting the importance of additional sequencing, vascular imaging, and multidisciplinary care coordination for these patients. - Source: PubMed
Publication date: 2026/08/26
Nemshick MadisonOxman EliasLeon Eyby - The relatively low edible muscle yield and inconsistent flesh texture of red swamp crayfish limit its commercial value and highlight the need for effective nutritional interventions. Although L-carnosine has shown beneficial effects on muscle growth and quality in vertebrates, its nutritional functions and underlying mechanisms in crustaceans remain unclear. This study aimed to evaluate the effects of dietary L-carnosine on growth performance and muscle quality in red swamp crayfish (). A total of 324 red swamp crayfish, with an initial body weight of 6.19 ± 0.03 g, were randomly divided into 6 groups of three replicates and 54 crayfish per group (18 crayfish per replicate). Six experimental diets containing graded levels of L-carnosine (3.35, 59.28, 106.84, 222.20, 452.93, and 821.16 mg/kg) were fed for 8 weeks. Regression analysis revealed dose-dependent responses in multiple parameters. Weight gain rate, specific growth rate, protein efficiency ratio, protein deposition rate, muscle percentage, whole-body and muscle crude protein content, muscle textural properties (hardness and chewiness), hydroxyproline levels (alkaline-insoluble and total), myofiber density, small myofiber proportion (<50 μm), and total amino acid content exhibited quadratic trends ( < 0.05), with peak values observed in the 452.93 mg/kg group. Conversely, feed conversion ratio and large myofiber proportion (>70 μm) showed significant quadratic decreases ( < 0.05), reaching their lowest values at 452.93 mg/kg. Transcriptional analysis demonstrated that, compared with the 3.35 mg/kg L-carnosine group, the 452.93 mg/kg L-carnosine group significantly regulated genes involved in several key pathways: mTORC1 signaling (, , , , , and ), eIF2B-eIF2 signaling (), ubiquitin-proteasome system (, , , and ), autophagy-lysosomal system (, , , and ), TGFβ/Smads pathway (, , , , and ), and myogenic regulators (, , and ) ( < 0.05). These molecular modulations were consistent with observed phenotypic improvements. Overall, the findings demonstrated that a dietary L-carnosine level of 458.06 to 500.00 mg/kg, as determined by quadratic regression analysis, significantly enhances growth performance, feed utilization, muscle hardness and chewiness, and nutritive value in red swamp crayfish. - Source: PubMed
Publication date: 2026/08/05
Li XinyuanLiu YangyangXie ShouqiZhang JianminGao WeihuaJiang MingDong LixuePeng DiCheng KeHuang FengTian Juan - Esophageal atresia/tracheoesophageal fistula (EA/TEF) are congenital malformations of the foregut, and we identified two EA/TEF patients with two variants in the BMP/TGFβ repressor SMAD6. We investigated the function of SMAD6 in tracheoesophageal development using two orthogonal approaches in Xenopus embryos, both resulting in foregut malformations including EA/TEF. We then used human Pluripotent Stem Cell-derived foregut epithelium and mesenchyme to explore the separate roles of SMAD6 in these germ layers. CRISPR-mediated disruption of human SMAD6 caused an increase in BMP signaling in foregut epithelium and mesenchyme consistent with its role as a BMP repressor. Loss of SMAD6 caused patterning defects in both tissue types; SMAD6-/- endoderm shows increased expression of distal gut tube markers and SMAD6-/- mesenchyme shows increased expression of ventral and posterior markers including markers of cardiac and liver mesenchyme lineages. Furthermore, SMAD6-/- mesenchyme had decreased ability to form CD31-positive endothelial cells. Our results demonstrate that SMAD6 is required for foregut development and that rare variants in this gene are likely causative for foregut malformations in EA/TEF patients. - Source: PubMed
Publication date: 2026/08/14
Pagan VivienRankin Scott AEdwards Nicole AThorner KonradXie ShangqianChung Wendy KShen YufengZorn Aaron MWells James M - The therapeutic potential of selective PAD4 inhibitors such as GSK484 in mitigating adverse cardiac remodeling remains to be established. This study tested the hypothesis that PAD4 inhibition by GSK484 alleviates doxorubicin (DOX)-induced myocardial fibrosis in mice by modulating the expression of fibrosis-related biomarkers. - Source: PubMed
Publication date: 2026/08/13
Al-U'datt Doa'a G FTashtush AyssarAl-U'datt MuhammadTranchant Carole CAl-Masaed SaraJaradat Saied