FBXL10 Blocking Peptide
- Known as:
- FBXL10 Blocking Peptide
- Catalog number:
- 33r-5424
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Fitzgerald industries international
- Gene target:
- FBXL10 Blocking Peptide
Related genes to: FBXL10 Blocking Peptide
- Gene:
- KDM2B NIH gene
- Name:
- lysine demethylase 2B
- Previous symbol:
- FBXL10
- Synonyms:
- PCCX2, CXXC2, Fbl10, JHDM1B
- Chromosome:
- 12q24.31
- Locus Type:
- gene with protein product
- Date approved:
- 2004-01-06
- Date modifiied:
- 2016-02-12
Related products to: FBXL10 Blocking Peptide
Related articles to: FBXL10 Blocking Peptide
- - Source: PubMed
Angulo Karen R ArispeShi ZonggaoLatif FouziaBlackburn Patrick RMalik Faizan - Peripheral nerve injury (PNI) often causes persistent sensory and motor deficits because of incomplete axonal regeneration and insufficient remyelination. Schwann cells (SCs) are essential for peripheral nerve repair, but effective recovery depends on their timely transition from a repair state to a myelinating phenotype. - Source: PubMed
Publication date: 2026/04/24
Xu HuiyueYang HaoqingCao YangyangFan Zhipeng - The recently delineated KDM2B-associated neurodevelopmental disorder (NDD) is characterized by developmental delay and variable co-morbidity. Genotype-phenotype correlations are emerging, in particular a distinct clinical presentation caused by CxxC domain variants. We report here a novel intragenic deletion which leads to in vitro expression of a shortened KDM2B protein lacking the complete CxxC domain. In addition, we present data on 12 other individuals; two with larger 12q24.31 microdeletions, one with a frameshift variant, and nine with missense variants. We analyzed genotype-phenotype correlations of this cohort combined with previously reported individuals (n = 68) and classify 37 variants in 47 individuals as pathogenic or likely pathogenic. We observe a highly penetrant CxxC-related phenotype with distinct facial features supported by GestaltMatcher. In contrast, our findings point to variable expressivity and incomplete penetrance of loss-of-function variants and JmjC domain variants complicating variant classification and genetic counseling. We identify KDM2B as a strong contributor to the 12q24.31 microdeletion syndrome, while also addressing the role of additional genes in the region. Thus, our study defines the KDM2B-NDD's clinical spectrum and highlights the importance of integrating molecular, (epi)genetic, and phenotypic data in NDD diagnostics. - Source: PubMed
Publication date: 2026/04/09
van Oirsouw Amber S EHsieh Tzung-ChienKoetsier MartijnAlali AbdulrazakAlbuainain FatimahBacchelli ElenaBarakat Tahsin StefanCapri YlineChantot-Bastaraud SandraCapra ValeriaCarere Deanna AlexisClement EmmaElkhateeb NourFranchi MadeleineLi Jing-MeiMatthews NicoleMcNiven VandaMehta Sarju GNakamura MasayukiPhornphutkul ChanikaRevencu NicoleScala MarcelloShallow NatalieStefanich JenniferViggiano MartaVisconti PaolaWalker SusanZara FedericoAlders MariëlleKoeleman Bobby P COegema Renske - KDM2B encodes an epigenetic regulator that binds to promoter-associated CpG islands via its CxxC zinc-finger domain, protecting them from DNA methylation. It also helps establish transcriptional programs essential for development by recruiting the non-canonical Polycomb Repressive Complex 1.1 to lineage-specific genes. Heterozygous variants in KDM2B were recently associated with a neurodevelopmental disorder. Notably, some individuals with variants in the CxxC domain also exhibited congenital heart, kidney and/or structural eye anomalies. By screening 706 families with developmental eye disorders, we identified two cases with KDM2B-CxxC variants, NM_032590.5:c.1841G>C;p.(Arg614Pro) and NM_032590.5:c.1880G>C;p.(Cys627Ser), both resulting in a characteristic KDM2B DNA episignature. Both individuals exhibited complex structural eye defects, with neurodevelopmental, cardiac and renal anomalies variably present. These cases strengthen the association between KDM2B-CxxC variants and eye, kidney and heart malformations and highlight the importance of testing this gene and its episignature in individuals with structural eye disorders, especially when accompanied by congenital cardiac and/or renal anomalies. - Source: PubMed
Publication date: 2026/04/07
Ceroni FabiolaReis Linda MWatkins FionaBax Dorine AFischer Megan CJeganathan KarthikahJewell RosalynMartin Jacob SSalt AlisonSeese Sarah EThomson JennySemina Elena VRagge Nicola K - High-grade endometrial stromal sarcoma (HGESS), which was not recognized as a distinct entity in the third edition of the World Health Organization (WHO) classification and was therefore included in the undifferentiated uterine sarcoma (UUS) category, was reestablished as a separate entity in the fourth edition. HGESS shares BCL-6 corepressor (BCOR) alterations with undifferentiated small round-cell sarcoma (USRCS) of the soft tissue and clear cell sarcoma of the kidney (CCSK). This study aims to perform a comparative morphological, immunohistochemical, and molecular analysis of HGESS, UUS, USRCS, and CCSK. Consecutive uterine sarcomas diagnosed as HGESS or UUS were reviewed and compared to BCOR-altered USRCS (n = 28) and CCSK (n = 10) (including both previously published and new cases). Molecular, DNA methylome (DNAm), and copy number variation (CNV) analyses were performed. DNAm data of 93 previously analyzed uterine and round-cell tumors of several different types were used for clustering analysis. Twenty-five uterine sarcomas (six HGESS and 19 UUS) were included; five of six HGESS cases showed fusions associated with BCOR alterations (YWHAE::NUTM2A/B, EPC1::KDM2B, ZC3H7B::BCOR); UUS showed no fusions (n = 15) or fusions unrelated to BCOR alterations (n = 4). All USRCS and CCSK cases showed either BCOR-ITD or BCOR alteration-related fusions. BCOR-altered HGESS showed broad morphological and immunophenotypic overlap with USRCS and CCSK. DNAm analysis showed that BCOR-altered HGESS, USRCS, and CCSK clustered together, separately from all other tumor types. The non-BCOR-altered HGESS showed a JAZF1::SUZ12 fusion and arose from a low-grade endometrial stromal sarcoma component. CNVs were found in 15/16 uterine sarcomas and in 16/36 USRCS/CCSK cases. BCOR-altered HGESS appeared to be closely related to BCOR-altered USRCS and CCSK rather than to other uterine sarcomas. We suggest that HGESS with BCOR alterations may warrant reclassification as 'BCOR-altered uterine sarcomas'. © 2026 The Pathological Society of Great Britain and Ireland. - Source: PubMed
Publication date: 2026/02/18
Arciuolo DamianoPatrizi SaraAlaggio RitaTravaglino AntonioScaglione GiuliaVallese SilviaSantoro AngelaPedace LuciaNardini ClaudiaMilano Giuseppe MariaLocatelli FrancoGiovannoni IsabellaBarresi SabinaPedone Anchora LuigiFedeli CamillaCiccarone FrancescaInzani FredianoMiele EvelinaZannoni Gian Franco