PCDH11X antibody
- Known as:
- PCDH11X (anti-)
- Catalog number:
- orb3023
- Product Quantity:
- EUR
- Category:
- -
- Supplier:
- Biorbyt biorb
- Gene target:
- PCDH11X antibody
Related genes to: PCDH11X antibody
- Gene:
- PCDH11X NIH gene
- Name:
- protocadherin 11 X-linked
- Previous symbol:
- PCDH11
- Synonyms:
- PCDH-X, PCDHX, PPP1R119
- Chromosome:
- Xq21.31
- Locus Type:
- gene with protein product
- Date approved:
- 2000-02-17
- Date modifiied:
- 2016-10-05
Related products to: PCDH11X antibody
Related articles to: PCDH11X antibody
- Stanford type A aortic dissection (TAAD) is a fatal cardiovascular emergency with high mortality within 48 hours. Elucidating molecular mechanisms and identifying reliable biomarkers are essential for improving diagnosis and guiding targeted interventions. - Source: PubMed
Publication date: 2026/01/14
Wang ZhongWang YixianTang DianjunGang QingweiShen ShikaiWei HongmingZhao DongwenZhang Jian - Autism spectrum disorder (ASD) displays a notable male bias in prevalence. Research into rare (<0.1) genetic variants on the X chromosome has implicated over 20 genes in ASD pathogenesis, such as MECP2, DDX3X, and DMD. The "female protective effect" in ASD suggests that females may require a higher genetic burden to manifest symptoms similar to those in males, yet the mechanisms remain unclear. Despite technological advances in genomics, the complexity of the biological nature of sex chromosomes leaves them underrepresented in genome-wide studies. Here, we conducted an X-chromosome-wide association study (XWAS) using whole-genome sequencing data from 6,873 individuals with ASD (82% males) across Autism Speaks MSSNG, Simons Simplex Collection (SSC), and Simons Powering Autism Research (SPARK), alongside 8,981 population controls (43% males). We analyzed 418,652 X chromosome variants, identifying 59 associated with ASD (p values 7.9 × 10 to 1.51 × 10), surpassing Bonferroni-corrected thresholds. Key findings include significant regions on Xp22.2 (lead SNP rs12687599, p = 3.57 × 10) harboring ASB9/ASB11 and another encompassing DDX53 and the PTCHD1-AS long non-coding RNA (lead SNP rs5926125, p = 9.47 × 10). When mapping genes within 10 kb of the 59 most significantly associated SNPs, 91 genes were found, 17 of which yielded association with ASD (GRPR, AP1S2, DDX53, HDAC8, PCDH19, PTCHD1, PCDH11X, PTCHD1-AS, DMD, SYAP1, CNKSR2, GLRA2, OFD1, CDKL5, GPRASP2, NXF5, and SH3KBP1). FGF13 emerged as an X-linked ASD candidate gene, highlighted by sex-specific differences in minor allele frequencies. These results reveal significant insights into X chromosome biology in ASD, confirming and nominating genes and pathways for further investigation. - Source: PubMed
Publication date: 2024/12/19
Mendes MarlaChen Desmond ZeyaEngchuan WorrawatLeal Thiago PeixotoThiruvahindrapuram BhoomaTrost BrettHowe Jennifer LPellecchia GiovannaNalpathamkalam ThomasAlexandrova RoumianaSalazar Nelson BautistaMcKee Ethan ARivera-Alfaro NataliaLai Meng-ChuanBandres-Ciga SaraRoshandel DelnazBradley Clarrisa AAnagnostou EvdokiaSun LeiScherer Stephen W - Autism Spectrum Disorder (ASD) displays a notable male bias in prevalence. Research into rare (<0.1) genetic variants on the X chromosome has implicated over 20 genes in ASD pathogenesis, such as , , and . The "female protective effect" in ASD suggests that females may require a higher genetic burden to manifest similar symptoms as males, yet the mechanisms remain unclear. Despite technological advances in genomics, the complexity of the biological nature of sex chromosomes leave them underrepresented in genome-wide studies. Here, we conducted an X chromosome-wide association study (XWAS) using whole-genome sequencing data from 6,873 individuals with ASD (82% males) across Autism Speaks MSSNG, Simons Simplex Cohort SSC, and Simons Foundation Powering Autism Research SPARK, alongside 8,981 population controls (43% males). We analyzed 418,652 X-chromosome variants, identifying 59 associated with ASD (p-values 7.9×10 to 1.51×10), surpassing Bonferroni-corrected thresholds. Key findings include significant regions on chrXp22.2 (lead SNP=rs12687599, p=3.57×10) harboring /, and another encompassing long non-coding RNA (lead SNP=rs5926125, p=9.47×10). When mapping genes within 10kb of the 59 most significantly associated SNPs, 91 genes were found, 17 of which yielded association with ASD (, , , , , , , , , , , , , , , , ). emerged as a novel X-linked ASD candidate gene, highlighted by sex-specific differences in minor allele frequencies. These results reveal significant new insights into X chromosome biology in ASD, confirming and nominating genes and pathways for further investigation. - Source: PubMed
Publication date: 2024/07/18
Mendes MarlaChen Desmond ZeyaEngchuan WorrawatLeal Thiago PeixotoThiruvahindrapuram BhoomaTrost BrettHowe Jennifer LPellecchia GiovannaNalpathamkalam ThomasAlexandrova RoumianaSalazar Nelson BautistaMcKee Ethan AlexanderAlfaro Natalia RiveraLai Meng-ChuanBandres-Ciga SaraRoshandel DelnazBradley Clarrisa AAnagnostou EvdokiaSun LeiScherer Stephen W - Immune checkpoint inhibitors (ICIs) have achieved impressive success in lung adenocarcinoma (LUAD). However, the response to ICIs varies among patients, and predictive biomarkers are urgently needed. PCDH11X is frequently mutated in LUAD, while its role in ICI treatment is unclear. In this study, we curated genomic and clinical data of 151 LUAD patients receiving ICIs from three independent cohorts. Relations between PCDH11X and treatment outcomes of ICIs were examined. A melanoma cohort collected from five published studies, a pan-cancer cohort, and non-ICI-treated TCGA-LUAD cohort were also examined to investigate whether PCDH11X mutation is a specific predictive biomarker for LUAD ICI treatment. Among the three ICI-treated LUAD cohorts, PCDH11X mutation (PCDH11X-MUT) was associated with better clinical response compared to wild-type PCDH11X (PCDH11X-WT). While in ICI-treated melanoma cohort, the pan-cancer cohort excluding LUAD, and the non-ICI-treated TCGA-LUAD cohort, no significant differences in overall survival (OS) were observed between the PCDH11X-MUT and PCDH11X-WT groups. PCDH11X mutation was associated with increased PD-L1 expression, tumor mutation burden (TMB), neoantigen load, DNA damage repair (DDR) mutations, and hot tumor microenvironment in TCGA-LUAD cohort. Our findings suggested that the PCDH11X mutation might serve as a specific biomarker to predict the efficacy of ICIs for LUAD patients. Considering the relatively small sample size of ICI-treated cohorts, future research with larger cohorts and prospective clinical trials will be essential for validating and further exploring the role of PCDH11X mutation in the context of immunotherapy outcomes in LUAD. KEY MESSAGES: PCDH11X mutation is associated with better clinical response compared to wild type PCDH11X in three ICIs-treated LUAD cohorts. In ICIs-treated melanoma cohort, the pan-cancer cohort excluding LUAD, and non-ICIs-treated TCGA-LUAD cohorts PCDH11X mutation is not associated with better clinical response, suggesting PCDH11X mutation might be a specific biomarker to predict the efficacy of ICIs treatment for LUAD patients. PCDH11X mutation is associated with increased PD-L1 expression, tumor mutation burden, and neoantigen load in TCGA-LUAD cohort. PCDH11X mutation is associated with hot tumor microenvironment in TCGA-LUAD cohort. - Source: PubMed
Publication date: 2024/05/13
Liu ManjiaoYang MeijiaZhang BeiXia SijianZhao JieYan LinlinRen YongGuo HaoZhao Jie - Vascular smooth muscle cells (SMCs) and their derivatives are key contributors to the development of atherosclerosis. However, studying changes in SMC gene expression in heterogeneous vascular tissues is challenging due to the technical limitations and high cost associated with current approaches. In this paper, we apply translating ribosome affinity purification sequencing to profile SMC-specific gene expression directly from tissue. - Source: PubMed
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