LRRC50 Blocking Peptide
- Known as:
- LRRC50 Blocking Peptide
- Catalog number:
- 33r-5219
- Product Quantity:
- USD
- Category:
- -
- Supplier:
- Fitzgerald industries international
- Gene target:
- LRRC50 Blocking Peptide
Related genes to: LRRC50 Blocking Peptide
- Gene:
- DNAAF1 NIH gene
- Name:
- dynein axonemal assembly factor 1
- Previous symbol:
- LRRC50
- Synonyms:
- FLJ25330, ODA7, CILD13, swt
- Chromosome:
- 16q24.1
- Locus Type:
- gene with protein product
- Date approved:
- 2005-05-26
- Date modifiied:
- 2016-09-30
Related products to: LRRC50 Blocking Peptide
Related articles to: LRRC50 Blocking Peptide
- Primary ciliary dyskinesia (PCD) is a rare, autosomal recessive disorder caused by impaired cilia and flagella function. Despite advances in molecular diagnostics, pathogenic variants remain to be detected in a subset of clinically diagnosed individuals. In the present case, abdominal ultrasonography revealed situs inversus of the liver and spleen, and chest X-ray demonstrated dextrocardia. Semen analysis showed markedly reduced sperm motility, consistent with ciliary dysfunction, and the patient exhibited additional clinical features characteristic of PCD. Exome sequencing (ES) revealed biallelic variants in dynein axonemal assembly factor 1 (DNAAF1) (NM_178452.6), including a missense variant, c.524T>C (p.Leu175Pro), and a nonsense variant, c.1462C>T (p.Arg488*). Segregation analysis was performed in the available family members and confirmed that each parent carried one of the variants in a heterozygous state. Bioinformatic predictions supported the pathogenic potential of identified variants, suggesting that they likely underlie the ciliary defects observed in the affected individual. Taken together, these findings implicate previously reported variant c.1462C>T and newly identified variant c.524T>C in PCD associated with male infertility. The predicted structural perturbation in protein structure is likely to impair dynein arm assembly, leading to loss of ciliary motility and the resultant clinical phenotype. - Source: PubMed
Publication date: 2026/04/21
Liao BaoqiongXie WumingShuai MeiXiao LinHuang JungaoHe YingHe Shuwen - Primary ciliary dyskinesia (PCD) is a genetic disorder characterized by defective ciliary motility, leading to recurrent respiratory infections and chronic airway damage. Gene therapy holds promise for treating PCD, but its effectiveness in patient-derived models remains uncertain. This study aimed to evaluate the therapeutic potential of lentiviral gene delivery in restoring ciliary function in patient-derived nasal apical-out airway organoids. Using nasal epithelial cells from both healthy individuals and PCD patients with mutations in , , or , we established organoid models to assess gene therapy efficacy. Lentiviral vectors successfully restored the expression and proper localization of DNAAF proteins in mutant organoids, significantly improving ciliary beating frequency and the proportion of organoids with functional cilia. These findings provide proof-of-concept evidence supporting gene therapy as a viable approach to correct ciliary defects in PCD, paving the way for targeted treatments. - Source: PubMed
Publication date: 2025/09/15
Huo ChunxiaoLuo TingWu LeiYang FengXu ZhangqiTao XiaofenXia JunhuaZhou TianhuaJiang YuanXie Shanshan
- Source: PubMed
- : Primary ciliary dyskinesia (PCD) (OMIM: 244400) is a hereditary, rare disorder with a high prevalence in Turkey due to a high rate of consanguinity. The disorder is caused by malfunctioning motile cilia and is characterized by a variety of clinical symptoms including sinusitis, otitis media and chronic obstructive pulmonary disease. This study presents the first assessment of the efficacy of immunofluorescence (IF) labeling for diagnosing PCD in Turkey by correlating IF with clinical observations when genetic data are scarce. : We have a cohort of 54 PCD-suspected individuals with an age range of 5-27 years classified into two groups: group A with available genomic data (8 individuals) and group B with no available genomic data (46 individuals). We performed immunofluorescence analysis to confirm the pathogenicity of the variants in individuals with a prior genetic diagnosis and to confirm a PCD diagnosis in individuals with typical PCD symptoms and no genetic diagnosis. : All individuals had airway infections and displayed clinical symptoms of PCD. Our data revealed an absence of outer dynein arm dynein heavy chain DNAH5 in individuals with pathogenic variants in and and in 17 other PCD-suspected individuals, an absence of nexin-dynein regulatory complex component GAS8 in 8 PCD-suspected individuals, an absence of outer dynein arm dynein heavy chain DNAH11 in 6 PCD-suspected individuals and an absence of radial spoke head component RSPH9 in 2 PCD-suspected individuals. Furthermore, the pathogenicity of variants was confirmed by the absence of the outer dynein arm docking complex component ARMC4 and the proximal localization of DNAH5. : Immunofluorescence analysis, owing to its lower cost and quicker turnaround time, proves to be a powerful tool for diagnosing PCD even in the absence of genetic data or electron microscopy results. - Source: PubMed
Publication date: 2025/03/13
Karakoç ElifHjeij RimKaya Zeynep BengisuEmiralioğlu NagehanAdemhan Tural DilberAtilla PerginÖzçelik UğurOmran Heymut - We present the case of a 58-year-old female patient with primary ciliary dyskinesia (PCD). She was born to parents with a consanguineous marriage. Chest computed tomography conducted at age 41 years indicated no situs inversus, and findings of bronchiectasis were limited to the middle and lingular lobes. Despite long-term macrolide therapy, bronchiectasis exacerbations frequently occurred. PCD was suspected because of the low nasal nitric oxide level (20.7 nL/min). Electron microscopy revealed outer and inner dynein arm defects, and a genetic analysis identified a homozygous single-nucleotide deletion in the DNAAF1 gene. Based on these results, the patient was diagnosed with PCD due to a biallelic DNAAF1 mutation. - Source: PubMed
Publication date: 2024/03/04
Ito MasashiMorimoto KozoSaotome MikioMiyabayashi AkikoWakabayashi KeikoYamada HiroyukiHijikata MinakoKeicho NaotoOhta Ken