Van der Woude syndrome (VWS) is the most common type of syndromic orofacial cleft, being characterised by variable association of lower lip pits, cleft lip and cleft palate. VWS is transmitted in an autosomal dominant manner, with high penetrance and variable expressivity, and a gene for this disease has been mapped in 1q32-q41. Very recently, mutations of the interferon regulatory factor 6 (IRF6) gene have been found in VWS patients, suggesting that this gene plays an important role in the orofacial development. We report a novel mutation of the IRF6 in an Italian family with six members affected by VWS with different expression. This mutation, the W217X, produces a stop codon within exon 6 of the IRF6 gene, with loss of the SMIR domain of the IRF6 protein.
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Van der Woude syndrome (VWS) is an autosomal dominant disorder characterized by lower lip pits and orofacial clefts (OFCs). With a prevalence of approximately 1 in 35,000 live births, it is the most common form of syndromic clefting and may account for ~2% of all OFCs. The majority of VWS is attributed to genetic variants in IRF6 (~70%) or GRHL3 (~5%), leaving up to 25% of individuals with VWS without a molecular diagnosis.
View Article and Find Full Text PDFUncovering selection pressures on the IRF gene family in bats' immune system.
Immunogenetics
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Laboratorio de Bioconservación y Manejo, Posgrado en Ciencias Químicobiológicas, Departamento de Zoología, Escuela Nacional de Ciencias Biológicas, Instituto Politécnico Nacional, Prolongación Carpio y Plan de Ayala S/N, Col. Santo Tomás, C.P. 11340, Ciudad de México, Mexico.
Unlike other mammals, bats serve as natural reservoirs for several highly pathogenic viruses without exhibiting symptoms of infection. Recent research has explored the complex mechanisms underlying the balance between bats' antiviral defenses and their pathological responses. However, the evolution of the molecular drivers behind bats' antiviral strategies remains largely unknown.
View Article and Find Full Text PDFPAGE-based transfer learning from single-cell to bulk sequencing enhances model generalization for sepsis diagnosis.
Brief Bioinform
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Guangdong Provincial Clinical Research Center for Geriatrics; Shenzhen Clinical Research Center for Geriatrics, Shenzhen People's Hospital, the Second Clinical Medical College of Jinan University, the First Affiliated Hospital of Southern University of Science and Technology, 1017 Dongmen Rd N, Luohu District, Shenzhen 518020, China.
Sepsis, caused by infections, sparks a dangerous bodily response. The transcriptional expression patterns of host responses aid in the diagnosis of sepsis, but the challenge lies in their limited generalization capabilities. To facilitate sepsis diagnosis, we present an updated version of single-cell Pair-wise Analysis of Gene Expression (scPAGE) using transfer learning method, scPAGE2, dedicated to data fusion between single-cell and bulk transcriptome.
View Article and Find Full Text PDFA Novel Genetic Variation Identified in Patients With Orofacial Clefts.
J Craniofac Surg
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Department of Plastic and Reconstructive Surgery, Shanghai Ninth People's Hospital, Shanghai Jiao Tong University School of Medicine.
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View Article and Find Full Text PDFParental transmission effects of the IRF6 polymorphisms among Non-Syndromic Cleft Lip with or without cleft palate in Kerala case parent trios.
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Cell and Molecular Biology Facility, Jubilee Centre for Medical Research, Jubilee Mission Medical College and Research Institute, Thrissur, Kerala 680005, India. Electronic address:
Article Synopsis
- This study aimed to investigate the role of IRF6 gene polymorphisms in individuals with Non-syndromic Orofacial Cleft (NSOFC) in Kerala.
- The research involved analyzing DNA from 100 case-parent triads and specifically focused on the polymorphisms rs2235371 and rs7552506 using PCR and Sanger sequencing.
- Results indicated a significant association between rs2235371 and NSOFC, particularly linked to paternal ancestry, while rs7552506 exhibited maternal linkage, suggesting IRF6 could be a risk factor for NSOFC in this population.
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