TCTN2 Antibody
- Known as:
- TCTN2 Antibody
- Catalog number:
- 3262-100
- Product Quantity:
- 100
- Category:
- -
- Supplier:
- Biovis
- Gene target:
- TCTN2 Antibody
Related genes to: TCTN2 Antibody
- Gene:
- TCTN2 NIH gene
- Name:
- tectonic family member 2
- Previous symbol:
- C12orf38
- Synonyms:
- FLJ12975, TECT2, MKS8, JBTS24
- Chromosome:
- 12q24.31
- Locus Type:
- gene with protein product
- Date approved:
- 2006-01-23
- Date modifiied:
- 2016-02-18
Related products to: TCTN2 Antibody
Related articles to: TCTN2 Antibody
- Joubert syndrome (JS) is a rare neurodevelopmental ciliopathy defined by the molar tooth sign (MTS) on brain magnetic resonance imaging accompanied by hypotonia, oculomotor apraxia (OMA), developmental delay, and multisystem involvement. With over 40 genes implicated, JS displays genetic and phenotypic heterogeneity. This study aimed to define the clinical and molecular spectrum of JS in a Turkish cohort. - Source: PubMed
Publication date: 2025/12/22
Türk SalihGüneş NilayGök AnılŞengenç EsmaDemirbilek VeysiKasap BüşraArslan SerdarUludağ Alkaya DilekGür KutlayIşlak CivanSaltık SemaKara BülentYalçınkaya CengizTüysüz Beyhan
- Source: PubMed
- Meckel-Gruber syndrome (MKS, OMIM 24,900), also known as Meckel syndrome, is a rare and severe autosomal recessive disorder. The syndrome is typically characterized by a triad of occipital encephalocele, bilateral renal cystic dysplasia, and postaxial polydactyly. MKS shows significant clinical heterogeneity, which poses challenges for accurate prenatal diagnosis. Prenatal ultrasound is an important tool for detecting potential cases, but the complexity of MKS often requires additional advanced techniques such as prenatal whole-exome sequencing (WES) to provide more accurate molecular genetic evidence. - Source: PubMed
Yang QiHe WeiZhang QiangYi ShengZhou XunzhaoZhang ShujieYi ShangZhang QinleLuo Jingsi - Precise dorsal-ventral (D-V) patterning of the neural tube (NT) is essential for the development and function of the central nervous system. However, existing models for studying NT D-V patterning and related human diseases remain inadequate. Here, we present organizers derived from pluripotent stem cell aggregate fusion ("ORDER"), a method that establishes opposing BMP and SHH gradients within neural ectodermal cell aggregates. Using this approach, we generated NT organoids with ordered D-V patterning from both zebrafish and human pluripotent stem cells (hPSCs). Single-cell transcriptomic analysis revealed that the synthetic human NT organoids (hNTOs) closely resemble the human embryonic spinal cord at Carnegie stage 12 (CS12) and exhibit greater similarity to human NT than to mouse models. Furthermore, using the hNTO model, we demonstrated the critical role of WNT signaling in regulating intermediate progenitors, modeled TCTN2-related D-V patterning defects, and identified a rescue strategy. - Source: PubMed
Publication date: 2025/05/14
Luo TaoLiu CongCheng TaoZhao Guo-QinHuang YingLuan Jing-YunGuo JunyuLiu XiangWang Yi-FanDong YangXiao YuHe EnhuiSun Rui-ZhenChen XiuyuChen JiekaiMa JunMegason SeanJi JunfengXu Peng-Fei - X-linked mutations are highly important in clinical diagnosis, and at least 533 disorders are related to the genes located on the X chromosome. - Source: PubMed
Omarmeli VahidAssefi MarjanLewandrowski Kai-UweSharafshah AlirezaFaizmahdavi HaniehDarabi ParichehrAmiri AmirMansouri Nasrin