FAM123B antibody
- Known as:
- FAM123B (anti-)
- Catalog number:
- orb100326
- Product Quantity:
- EUR
- Category:
- -
- Supplier:
- Biorbyt biorb
- Gene target:
- FAM123B antibody
Related genes to: FAM123B antibody
- Gene:
- AMER1 NIH gene
- Name:
- APC membrane recruitment protein 1
- Previous symbol:
- FAM123B
- Synonyms:
- RP11-403E24.2, FLJ39827, WTX
- Chromosome:
- Xq11.2
- Locus Type:
- gene with protein product
- Date approved:
- 2006-07-11
- Date modifiied:
- 2019-04-23
Related products to: FAM123B antibody
Related articles to: FAM123B antibody
- Molecular biomarkers are increasingly used for risk stratification, particularly in up-front surgery settings (Children's Oncology Group trials), whereas in preoperative chemotherapy setting, the ongoing International Society of Pediatric Oncology (SIOP)-Renal Tumor Study Group-2016 UMBRELLA study aims to validate selected biomarkers for future risk-adapted treatment strategies. This systematic review summarizes all literature on the prognostic value of these biomarkers. - Source: PubMed
Publication date: 2026/05/18
Oller AgustinaKemmeren PatrickPerotti Danielavan Tinteren HarmVerschuur ArnauldSpreafico FilippoBrok JesperFurtwängler Rhoikos C JChowdhury TanzinaAl-Saadi ReemVujanic Gordan MTreece Amy LDrost Jarnovan Grotel MartineMullen Elizabeth AEvageliou Nicholas FGraf NorbertHong Andrew LGessler ManfredGeller James Ivan den Heuvel-Eibrink Marry M - Osteopathia striata with cranial sclerosis (OSCS) is a rare X-linked dominant genetic disorder mediated by variants in the AMER1 gene, characterized primarily by generalized skeletal sclerosis and striated changes. However, research on its craniofacial phenotypes has long been fragmented, lacking systematic pedigree construction and basis for precise management. This study integrates a 16-year follow-up patient carrying a novel AMER1 frameshift variant (c.966delT; p.Phe322Leufs*3) with 66 literature-confirmed patients, and systematically analyzes craniofacial phenotypic characteristics and genetic associations using Spearman correlation analysis, two-step clustering, and gene function prediction. The results show that orofacial clefts have the highest incidence (72%), with synergistic associations between retained deciduous teeth and impacted permanent teeth; two-step clustering identified four heterogeneous "genetic abnormality-phenotype" subtypes, with DNA/protein functional status as the core factor; it confirms that c.966delT is a pathogenic de novo variant, mediating Wnt pathway abnormalities as the core mechanism of phenotypes, and proposes a multidisciplinary management strategy. This study is the first to establish a quantitative pedigree and subtype classification for OSCS craniofacial phenotypes, deepening the understanding of molecular mechanisms and providing key basis for precise diagnosis, stratified intervention, and prognosis improvement. - Source: PubMed
Publication date: 2026/04/10
Chen QingWang XinLiu NiankeYuan WenjunSong Yaling - Osteopathia striata with cranial stenosis (OSCS) is a rare genetic disorder (Mendelian Inheritance in Man: 300373) inherited in an X-linked dominant pattern. It is classified as a form of skeletal dysplasia and is characterized by linear striations of bone sclerosis, primarily affecting the long bones. OSCS may present as an isolated condition or as part of broader genetic conditions such as Horan-Beighton and Goltz syndromes. Thus far, approximately 100 cases have been reported. - Source: PubMed
Publication date: 2026/02/18
Yakovlev Alexandr AGaidar Ekaterina VSuspitsin Evgeny NKorzun Polina RKostik Mikhail M - To evaluate the diagnostic yield of exome sequencing (ES) in isolated polyhydramnios. - Source: PubMed
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Glassner Vered OffenBotvinik AdiMory AdiReches AdiHaratz Karina KrajdenFleming Britannia MorganFeldman Hagit BarisSagi-Dain LenaShohat MordechaiGoldstein Rayna JoyYaron YuvalLevy Michal - The clinical importance of treatment approaches based on genomic sequencing has increased in esophageal cancer. This study aimed to clarify the current status and clinical usefulness of genomic panel testing using PleSSision-160 for resectable esophageal squamous cell carcinoma (ESCC). - Source: PubMed
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