Translational 22q11.2

Condition:   Psychiatrists Intervention:   Genetic: Molecular analyses Sponsor:   Hôpital le Vinatier Not yet recruiting
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials

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In this study, we used genetically and biochemically well characterized cells bearing the pathogenic microdeletion m.15,649–15,666 (ΔI300-P305) in MT-CYB gene, to investigate the effects of an assembly-hampered CIII on the re-organization of supercomplexes. First, we found that this mutation also affects the stability of both CI and CIV, and evidences the occurrence of a preferential structural interaction between CI and CIII2, yielding a small amount of active CI + CIII2 supercomplex. Indeed, a residual CI + CIII combined redox activity, and a low but detectable ATP synthesis driven by CI substrates ar...
Source: Biochimica et Biophysica Acta (BBA) Bioenergetics - Category: Biochemistry Source Type: research
In conclusion, fetal pleural effusion has a close correlation with chromosomal abnormality. CMA may increase the detection rate of chromosomal aberrations, especially for micro-deletion or micro-duplication syndromes. In the South of China, Thalassemia must be considered when a fetal pleural effusion is detected.Impact statementWhat is already known on this subject? The aetiology of fetal pleural effusion includes a chromosomal abnormality, a congenital heart disease, congenital infections and a number of genetic syndromes.What do the results of this study add? This is the first retrospective study to analyse the aetiology...
Source: Journal of Obstetrics and Gynaecology - Category: OBGYN Tags: J Obstet Gynaecol Source Type: research
CONCLUSIONS: DGCR5 enhances NSCLC cell migration and invasion via targeting miR-218-5p, indicating that DGCR5 may be a potential therapeutic target in NSCLC. PMID: 31799664 [PubMed - in process]
Source: European Review for Medical and Pharmacological Sciences - Category: Drugs & Pharmacology Tags: Eur Rev Med Pharmacol Sci Source Type: research
Contributors : Tae-Yeon Eom ; Seung B Han ; Jieun Kim ; Jay Blundon ; Yong-Dong Wang ; Jing Yu ; Matthew Eicholtz ; Derek C Rose ; Kara Anderson ; Damian B Kaminski ; Stanislav S ZakharenkoSeries Type : Non-coding RNA profiling by arrayOrganism : Mus musculusProgressive ventricular enlargement is one of the most reproducible and recognizable structural abnormalities in schizophrenia, and is associated with more severe symptoms and poorer clinical outcome. The mechanisms of ventricular enlargement in schizophrenia is unknown. We identified that progressive ventricular enlargement is associated with deceleration of motile ci...
Source: GEO: Gene Expression Omnibus - Category: Genetics & Stem Cells Tags: Non-coding RNA profiling by array Mus musculus Source Type: research
Microdeletion of the entire interferon regulatory factory 6 (IRF 6) gene is a rare cause of Van der Woude syndrome (VDW) with only few cases reported in medical literature. Its occurrence in multiple affected members of a family is exceptional. The aim of this presentation was to describe a Central African family with typical VDW phenotype carrying an IRF6 gene deletion. Here we reported phenotype features of members of a Central African family with VDW syndrome consisting of labioalveolar cleft, depressions of the lower lip with labial fistulae (lip pits), submucosal clefts and cleft palate. Mutation analysis by means of ...
Source: Clinical Dysmorphology - Category: Genetics & Stem Cells Tags: Original Articles Source Type: research
Publication date: December 2019Source: Canadian Journal of Cardiology, Volume 35, Issue 12Author(s): Sarah Cohen, Michelle Z. Gurvitz, Virginie Beauséjour-Ladouceur, Patrick R. Lawler, Judith Therrien, Ariane J. MarelliAbstractAs life expectancy in patients with congenital heart disease (CHD) has improved, the risk for developing noncardiac morbidities is increasing in adult patients with CHD (ACHD). Among these noncardiac complications, malignancies significantly contribute to the disease burden of ACHD patients. Epidemiologic studies of cancer risk in CHD patients are challenging because they require large numbers...
Source: Canadian Journal of Cardiology - Category: Cardiology Source Type: research
In conclusion, this study suggests the possible involvement of this gene fusion, together with the other previously identified variants, in ASD. PMID: 31800155 [PubMed - as supplied by publisher]
Source: J Cell Mol Med - Category: Molecular Biology Authors: Tags: J Cell Mol Med Source Type: research
ConclusionsThere is a recognised need to strengthen transition pathways. This is especially true in this at risk group, given the poorer outcomes associated with transitions in youth with ID along with the additive effect of medical and mental health and learning difficulties that often co-occur in 22q11.2ds. A patient –clinician communication tool, designed by participants, offers a pragmatic approach to optimise healthcare transitions, support continuity of healthcare and personal autonomy.
Source: Irish Journal of Medical Science - Category: General Medicine Source Type: research
In this study, we performed an extensive assessment of the value of CMA for the diagnosis of children with ID/DD in China. Methods: A total of 633 patients diagnosed with DD/ID in West China Second University Hospital, Sichuan University, were recruited from January 2014 to March 2019. The patients were classified into 4 subgroups: isolated DD/ID, DD/ID with multiple congenital anomalies (MCA), isolated autism spectrum disorders (ASDs), and DD/ID with epilepsy. CMA was performed on Affymetrix 750K platform. Results: Among the 633 patients, 127 cases were identified as having pathogenic copy number variations (pCN...
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research
In conclusion, PCA applied to T cell MFC data might help the physician to estimate the severity of specific PID and to diversify the clinical and diagnostic approach of the patients.
Source: Frontiers in Immunology - Category: Allergy & Immunology Source Type: research
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