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Craniofacial Surgery
Published in John C Watkinson, Raymond W Clarke, Christopher P Aldren, Doris-Eva Bamiou, Raymond W Clarke, Richard M Irving, Haytham Kubba, Shakeel R Saeed, Paediatrics, The Ear, Skull Base, 2018
Benjamin Robertson, Sujata De, Astrid Webber, Ajay Sinha
This condition is characterized by craniosynostosis which is usually coronal, frontonasal dysplasia, curly or frizzy hair, sloping shoulders and ridged nails. As part of the frontonasal dysplasia there is hypertelorism, a broad nasal bridge and, occasionally, a bifid nasal tip. There may also be skeletal anomalies such as joint hyperextensibilty, scoliosis and broad toes. Mutations in the gene EFNB1 are causative.47 The inheritance is X-linked dominant whereby females are more severely affected than males.
Individual conditions grouped according to the international nosology and classification of genetic skeletal disorders*
Published in Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow, Fetal and Perinatal Skeletal Dysplasias, 2012
Christine M Hall, Amaka C Offiah, Francesca Forzano, Mario Lituania, Michelle Fink, Deborah Krakow
Syndromes with craniosynostosis: Carpenter syndrome (p. 415); Cole-Carpenter syndrome – osteogenesis imperfecta with cranial synostosis; thanatophoric dysplasia (pp. 32–46); craniofrontonasal syndrome: coronal synostosis and frontonasal dysplasia (severe hypertelorism, broad bifid nose, asymmetric frontal bossing), occasionally cleft lip and palate, neck webbing, abnormal clavicles, cutaneous syndactyly and hypoplastic fingers and toes. More severe in females. X-linked dominant, caused by mutations in EFNB1. Saethre-Chotzen syndrome: coronal synostosis, facial asymmetry, ptosis, characteristic appearance of the ear (small pinna with a prominent crus), syndactyly of digits II-III of the hand. Occasionally: short stature, parietal foramina, radioulnar synostosis, cleft palate, heart malformations. Dominant mutations in TWIST1 are causative. Baller-Gerold syndrome: coronal or multiple sutures synostosis, radial aplasia, absent thumb, short and bowed ulna, absent carpal and metacarpal bones. Occasionally ocular hypertelorism, epicanthic folds, prominent nasal bridge, midline capillary haemangiomas, genitourinary malformations, mental retardation. Caused by mutations of the gene RECQL4. Fluconazole embryopathy: craniosynostosis due to coronal and lambdoid suture closures, shallow orbits, hypoplastic supraorbital ridges, hypertelorism, mild ptosis, radioulnar synostosis, metacarpophalangeal symphalangism.
Proteogenomic examination of esophageal squamous cell carcinoma (ESCC): new lines of inquiry
Published in Expert Review of Proteomics, 2020
Shobha Dagamajalu, Manavalan Vijayakumar, Rohan Shetty, D. A. B. Rex, Chinmaya Narayana Kotimoole, T. S. Keshava Prasad
Body fluids have been widely used in proteomic approach in various diseases including cancer due to the availability, ease of collection, stability, composition, proximity with disease location and so forth. In addition to mass spectrometry, antibody-based protein microarrays also have been used to identify proteins with altered expression [12–14]. Differentially expressed proteins associated with malignant transformation were reported using cell lines of ESCC [15]. The cell adhesion protein periplakin was suggested as a candidate for the early detection of esophageal cancer and also to monitor the tumor progression [16]. Comparative genomic analysis using bioinformatics revealed the gene EFNB1 is expressed in esophageal cancer and in other types of cancer [17]. A workflow diagram depicting the multiomics strategy to identify biomarkers to understand the molecular mechanism of ESCC Figure 1.
Development and validation of a ligand–receptor pairs signature to predict outcome and provide a therapeutic strategy in gastric cancer
Published in Expert Review of Molecular Diagnostics, 2023
Wanli Yang, Xinhui Zhao, Lili Duan, Liaoran Niu, Yujie Zhang, Wei Zhou, Yiding Li, Junfeng Chen, Aqiang Fan, Qibin Xie, Jinqiang Liu, Yu Han, Daiming Fan, Liu Hong
The expression of 11 LR-pairs (including DLL1_NOTCH1, EPHB4_EFNB1, CCL21_CCR7, CCL2_CCR2, SELL_SELPLG, FLT3_FLT3LG, FGF1_FGFR1, LTA_TNFRSF1B, PTN_PTPRS, FAS_FASLG, and TNFRSF17_TNFSF13B) were detected and confirmed using qRT-PCR assay in SGC-7901 and GES-1. In Figure S12, the mRNA levels of DLL1, CCL21, CCR7, CCR2, SELPLG, LTA, TNFRSF1B, FAS, and TNFSF13B in SGC-7901 cell were upregulated compared with GES-1, while the mRNA levels of NOTCH1, EPHB4, EFNB1, CCL2, SELL, FLT3, FLT3LG, FGF1, FGFR1, PTN, PTPRS, and TNFRSF17 in SGC-7901 cell line were downregulated compared with GES-1 cell.
Senolytic drugs in respiratory medicine: is it an appropriate therapeutic approach?
Published in Expert Opinion on Investigational Drugs, 2018
Mario Cazzola, Maria Gakriella Matera, Paola Rogliani, Luigino Calzetta
Using a transcriptomics approach, some proteins and pathways that aid in senescent cell survival and apoptosis resistance, such as ephrins (EFNB1 and EFNB3), phosphatidylinositol-4,5-bisphosphate 3-kinase delta catalytic subunit (PI3KCD), p21, B-cell lymphoma-extra large (BCL-xL), and plasminogen-activated inhibitor-2 (PAI-2), were identified [38]. Drugs that target these pathways were tested as candidate senolytics (Table 1).