Ask about this productRelated genes to: SIX1 antibody
- Gene:
- SIX1 NIH gene
- Name:
- SIX homeobox 1
- Previous symbol:
- DFNA23
- Synonyms:
- -
- Chromosome:
- 14q23.1
- Locus Type:
- gene with protein product
- Date approved:
- 1995-09-29
- Date modifiied:
- 2015-09-02
Related products to: SIX1 antibody
Related articles to: SIX1 antibody
- Congenital anomalies of the kidney and urinary tract (CAKUT) comprise a heterogeneous group of developmental disorders with diverse genetic etiologies. However, it remains unclear whether these genetic factors converge on shared cellular programs across development and tissues. - Source: PubMed
Publication date: 2026/04/27
Pflugfelder MaraEberts AntoniaKoch VeraMartynov IllyaMaj CarloSeitz GuidoSchumacher JohannesVahdad Mohammad RezaDasmeh Pouria - - Source: PubMed
Publication date: 2026/04/10
- Transient cell states that precede and support human myogenic lineage commitment, and the intrinsic and extrinsic signals that control them, remain poorly defined in vitro. Here, we used longitudinal single-nucleus profiling, together with a SIX1:H2B-GFP hPSC reporter for lineage tracing, resolved previously uncaptured transient intermediates and sequential waves of human myogenesis across differentiation and . We show that hPSC-directed myogenesis gives rise in parallel to paraxial mesoderm and a transient PAX8+ intermediate mesoderm population that forms a 3-dimensional pre-myogenic niche supporting the PAX3-to-PAX7 myogenic progenitor transition. LIANA+ analysis further identified a temporally restricted BMP7-BMPR1B interaction, together with laminin-linked signaling, between PAX8+ niche cells and skeletal muscle progenitors before commitment. We further show that dynamic SIX1 cofactor switching, including EYA3 activity, is required for PAX3-to-PAX7 progression, and that disruption of this program compromises multi-lineage niche integrity. Together, these findings define how transient niche populations and intrinsic regulatory networks coordinate early human myogenic lineage progression and provide a human in vitro platform to study parallel intermediate and paraxial mesoderm development during myogenesis. - Source: PubMed
Publication date: 2026/03/31
Jaime Olga GBazan Katherine FLi AngelaDeai Asja ALakatos AnitaHicks Michael R - While a few studies have reported on single nucleotide polymorphisms associated with glaucoma in the Korean population, comprehensive data on genotype-phenotype correlations across multiple candidate genes are lacking. This study aimed to investigate the associations of variants in 10 candidate genes (CDKN2B, SIX1, SIX6, SCYL1, CHEK2, ATOH7, DCLK1, RERE, CDC7, and CARD10) with primary open-angle glaucoma (POAG) susceptibility and structural phenotypic features. We employed a 2-stage study design consisting of a discovery phase (targeted sequencing of 100 subjects) and a confirmation phase (genotyping of 24 selected variants in a total cohort of 382 subjects: 160 POAG cases and 222 controls). Associations with POAG risk and structural parameters, including vertical cup-to-disc ratio and retinal nerve fiber layer thickness (RNFLT), were analyzed using multivariable logistic regression and analysis of variance. The Benjamini-Hochberg false discovery rate method was applied to account for multiple testing. Regarding POAG susceptibility, 3 variants in DCLK1, SIX6, and SCYL1 showed nominal significance in the initial analysis but did not withstand false discovery rate correction. However, regarding phenotypic traits, rs33912345 in SIX6 demonstrated robust significant associations with both increased vertical cup-to-disc ratio and reduced average, superior, temporal and inferior RNFLT. Additionally, rs748189671 in RERE was significantly associated with temporal RNFLT. In detailed clock-hour analysis, variants in DCLK1 and SIX1 also showed significant correlations with 3 o'clock sector of RNFLT. Our findings identify DCLK1, SIX1, SIX6 and RERE as key genetic factors influencing optic nerve morphology and RNFLT in the Korean population. These results suggest that these genes may primarily modulate the structural vulnerability of the optic nerve, highlighting their potential utility for phenotypic profiling of glaucoma in the Korean population. However, these results are exploratory, and further large-scale studies are warranted to validate these associations and elucidate their clinical implications in glaucoma genetics. - Source: PubMed
Seol Bo RamJeoung Jin Wook - In 85% of cases, kidney tumours in children are represented by nephroblastoma or Wilms' tumour. Children are treated according to protocols developed by SIOP-RTSG in Europe and several other continents and by NWTSG-COG in North America. The SIOP-RTSG protocol includes upfront chemotherapy, usually without biopsy, followed by nephrectomy, which must be performed rigorously, precisely and according to a protocol by the pathologist in order to classify the tumour into its appropriate risk group (low risk, intermediate risk or high risk) and to assess its local stage of extension (stage 1, 2 or 3). These criteria will determine the choice and duration of post-operative chemotherapy, with or without radiotherapy. The molecular abnormalities of nephroblastoma are heterogeneous, involving several chromosomal regions such as 1p, 16q, 1q, 11p15 and several genes such as WT1, CTNNB1, WTX, SIX1/2, DROSHA/DGCR8, TP53, MYCN, FBXW7 and TRIM28. Analyses are underway to determine whether these molecular abnormalities associated with the absolute volume of chemoresistant blastema could help divide children into different groups. In 15% of cases, these are tumours other than nephroblastoma, very different from one another, with a highly variable prognosis ranging from benign tumours such as nephrogenic rest, paediatric cystic nephroma and metanephric tumour to very aggressive tumours such as rhabdoid tumour of the kidney or medullary carcinoma of the kidney. In this group, each tumour has its own genetics, whose molecular mechanisms are increasingly well understood, with fusions, tandem duplications or gene mutations which can help the pathologist to achieve to an accurate diagnosis in each morphological context. In some situations, the identification of these molecular alterations may lead to a targeted treatment. - Source: PubMed
Publication date: 2026/03/24
L'Herminé-Coulomb AuroreBerrebi Dominique