Results 71 to 80 of about 1,020 (134)

Additional file 8 of Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS)

Supplementary Material 8: Supplementary Figure 4. Percentage of different immune cell types (B cells, T cells, Dendritic Cells, classical monocytes, non-classical monocytes, intermediate monocytes) with high abundance of phospho-γH2AX and/or phospho-IRF3 following 16h of culture +/- 50μM Etoposide (ETP).
Boiu, Sorina, Paschalidis, Nikolaos, Sentis, George, Manolakou, Theodora, Nezos, Andrianos, Gialitakis, Manolis, Grigoriou, Maria, Atsali, Erato, Giorgi, Melpomeni, Ntinopoulos, Argirios, Mavragani, Clio, Makrythanasis, Periklis, Boumpas, Dimitrios T., Banos, Aggelos   +13 more
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Additional file 1 of Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS)

Supplementary Material 1: Table 1. The list of antibodies (all anti-human) of the 29-plex CyTOF analysis.
Boiu, Sorina, Paschalidis, Nikolaos, Sentis, George, Manolakou, Theodora, Nezos, Andrianos, Gialitakis, Manolis, Grigoriou, Maria, Atsali, Erato, Giorgi, Melpomeni, Ntinopoulos, Argirios, Mavragani, Clio, Makrythanasis, Periklis, Boumpas, Dimitrios T., Banos, Aggelos   +13 more
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Additional file 5 of Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS)

Supplementary Material 5: Supplementary Figure 1. A. Cumulative IFN-score (Reactome - IFN signaling) for Case, SLE patients and healthy controls. B. Gene-specific expression of genes utilized for IFN-score in Case, SLE patients and healthy controls. C. Heatmap of the expression of IFN-related genes in Case, SLE patients and healthy controls.
Boiu, Sorina, Paschalidis, Nikolaos, Sentis, George, Manolakou, Theodora, Nezos, Andrianos, Gialitakis, Manolis, Grigoriou, Maria, Atsali, Erato, Giorgi, Melpomeni, Ntinopoulos, Argirios, Mavragani, Clio, Makrythanasis, Periklis, Boumpas, Dimitrios T., Banos, Aggelos   +13 more
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Additional file 6 of Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS)

Supplementary Material 6: Supplementary Figure 2. A. Heatmap showing the enrichment in WikiPathways DNA Damage Response, GOBP: Interferon Mediated Signaling Pathway and the publication-derived Interferon Stimulated Genes signature, as calculated by GSVA. B. Venn diagram of differentially expressed genes between 1) CasevsHealthy and 2) CasevsSLE.
Boiu, Sorina, Paschalidis, Nikolaos, Sentis, George, Manolakou, Theodora, Nezos, Andrianos, Gialitakis, Manolis, Grigoriou, Maria, Atsali, Erato, Giorgi, Melpomeni, Ntinopoulos, Argirios, Mavragani, Clio, Makrythanasis, Periklis, Boumpas, Dimitrios T., Banos, Aggelos   +13 more
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Generation and characterization of human iPSC lines from two patients with therapy-resistant epilepsy carrying nonsense heterozygous variants in the SMC1A gene

Stem Cell Research
Different SMC1A variants contribute to a spectrum of phenotypes. Missense or small in-frame deletions are associated with Cornelia de Lange syndrome (CdLS) while SMC1A truncation variants have been detected in subjects with a clinical phenotype different
Marianna Paulis, Maddalena Di Nardo, Lucia Susani, Angela La Grua, Antonio Musio   +4 more
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Additional file 7 of Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS)

Supplementary Material 7: Supplementrary Figure 3. Automated Immunophenotyping analysis of PBMCs from the Case, SLE patients and healthy controls with the Maxpar Pathsetter workflow. Boxplots showing relative frequency (% positive cells of live singlet PBMCs) of the identified cell types from the automated workflow for the three conditions, HC, SLE and
Boiu, Sorina, Paschalidis, Nikolaos, Sentis, George, Manolakou, Theodora, Nezos, Andrianos, Gialitakis, Manolis, Grigoriou, Maria, Atsali, Erato, Giorgi, Melpomeni, Ntinopoulos, Argirios, Mavragani, Clio, Makrythanasis, Periklis, Boumpas, Dimitrios T., Banos, Aggelos   +13 more
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Cornelia de Lange syndrome- Report of the Second Case from Ahvaz

Majalah-i ̒ilmī pizishkī-i jundī/shapūr, 2012
Cornelia de Lange syndrome (CdLS) is a rare hereditary disease, characterized by severe growth retardation, microcephaly, and limb anomalies, distinctive dysmorphic features and mental retardation. The etiology is not still clear.
Ali Ahmadzadeh, Azin Ahmadzadeh, Mohammadreza Fathi, Arash Ahmadzadeh   +3 more
doaj  

Identification of two novel heterozygous variants of SMC3 with Cornelia de Lange syndrome

Molecular Genetics & Genomic Medicine
Background Cornelia de Lange syndrome (CdLS) is a multisystem genetic disorder, and cases caused by variants in the structural maintenance of chromosomes protein 3 (SMC3) gene are uncommon.
Zhi Lei, Xiaorui Song, Xuan Zheng, Yanhong Wang, Yingyuan Wang, Zhirong Wu, Tian Fan, Shijie Dong, Honghui Cao, Yuefang Zhao, Zhiyi Xia, Liujiong Gao, Qing Shang, Shiyue Mei   +13 more
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Cornelia de Lange Syndrome Accompanied by Cholelithiasis and Nephrolithiasis: A Case Report

Children
Cornelia de Lange syndrome (CdLS) is a rare genetic disorder characterized by a distinctive facial appearance, growth/cognitive retardation, developmental delay, skeletal malformation, hypertrichosis, and other abnormalities. Patients with mild CdLS have
So Yoon Choi, Yoo-Rha Hong, Chi-Eun Oh, Jung Hyun Lee   +3 more
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Additional file 4 of Increased interferon I signaling, DNA damage response and evidence of T-cell exhaustion in a patient with combined interferonopathy (Aicardi-Goutières Syndrome, AGS) and cohesinopathy (Cornelia de Lange Syndrome, CdLS)

Supplementary Material 4: Table 4. CyToF Analysis Pathsetter Reports.
Boiu, Sorina, Paschalidis, Nikolaos, Sentis, George, Manolakou, Theodora, Nezos, Andrianos, Gialitakis, Manolis, Grigoriou, Maria, Atsali, Erato, Giorgi, Melpomeni, Ntinopoulos, Argirios, Mavragani, Clio, Makrythanasis, Periklis, Boumpas, Dimitrios T., Banos, Aggelos   +13 more
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