3. Unusual case of mosaic Robertsonian Down syndrome with three cell lines and review of history of Robertsonian translocations at Greenwood Genetic Center

We report a newborn female with clinical features of DS and an unusual mosaic karyotype with three different cell lines, two of which have different Robertsonian translocations.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research

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Source: BMJ Comments - Category: General Medicine Source Type: forums
DNA changes in a common type of breast cancer cell may be linked to hormone therapy resistance, according to a study published inNature Communications.Science Daily
Source: Society for Endocrinology - Category: Endocrinology Source Type: news
We have vacancies for the Editor-in-Chief positions on the Editorial Boards of Endocrine Connections and Endocrine-Related Cancer.Endocrine Connections is jointly owned by the Society for Endocrinology and the European Society of Endocrinology. It is an open access journal offering authors the highest possible visibility for their work and stimulating cross-discipline collaboration. Read the full job description.Endocrine-Related Cancer is the official flagship journal of the Society for Endocrinology and is endorsed by the European Society of Endocrinology, Endocrine Society of Australia...
Source: Society for Endocrinology - Category: Endocrinology Source Type: news
In this study, we found that the expressions of DSCR1-1L mRNA and proteins were upregulated by other angiogenic factors, including VEGF-A121, VEGF-E, histamine, PAF, the endothelial cell (EC) growth medium, and the conditional medium obtained from cancer cells, but not by PlGF, bFGF, PDGF, and serotonin. The EC proliferation, migration and elongation induced by histamine and EC growth medium were inhibited by knocking down the mRNA and protein expressions of DSCR1-1L and TEF3. The TEF3 activation was regulated by its interaction with YAP1, and translocation from cytosol to nuclei, but not by increase of protein expression,...
Source: Microvascular Research - Category: Biochemistry Source Type: research
Adauto Lima Cardoso1, Bruno Evaristo de Almeida Fantinatti1, Natália Bortholazzi Venturelli1, Bianca de Oliveira Carmello1, Rogério Antonio de Oliveira2 and Cesar Martins1* 1Integrative Genomics Laboratory, Department of Morphology, Institute of Biosciences, São Paulo State University – Universidade Estadual Paulista, Botucatu, Brazil 2Department of Biostatistics, Institute of Biosciences, São Paulo State University – Universidade Estadual Paulista, Botucatu, Brazil Supernumerary B chromosomes are dispensable elements found in several groups of eukaryotes, and their impact...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
In conclusion, we have shown the safety and efficacy of Vemurafenib in a pediatric patient with DS affected by PXA. Ethics Statement This study was carried out in accordance with the recommendations of the Internal Review Board of the Bambino Gesù Children's Hospital with written informed consent from all subjects. All subjects gave written informed consent in accordance with the Declaration of Helsinki. The protocol was approved by the Internal Review Board of the Bambino Gesù Children's Hospital. Informed Consent The authors declare that written informed consent was obtained from the pat...
Source: Frontiers in Oncology - Category: Cancer & Oncology Source Type: research
B-acute lymphoblastic leukemia (B-ALL) in patients with Down syndrome (DS) has a worse prognosis than non-DS B-ALL. However, associated cytogenetic alterations may alter the prognosis. Here we discuss a 13-year-old female with DS presenting with leg pain, fevers, white blood cell count 12.8 k/ul, hemoglobin 7.7 g/dL, platelets 31 k/ul, and 60.9% blasts on differential. Flow cytometry identified B-lymphoblasts (positive for CD19, cytoCD79a, cytoCD22, CD34, CD10, TdT, and CD45 (dim)) and bone marrow biopsy demonstrated sheets of B-lymphoblasts.
Source: Cancer Genetics and Cytogenetics - Category: Genetics & Stem Cells Authors: Source Type: research
Individuals with Down syndrome have a low risk for many solid tumors, prompting the search for tumor suppressor genes on human chromosome 21 (HSA21). We aimed to identify and explore potential mechanisms of suppressors on HSA21 in hepatocellular carcinoma (HCC).
Source: Gastroenterology - Category: Gastroenterology Authors: Tags: Basic and Translational —Liver Source Type: research
Individuals with Down syndrome have a low risk for many solid tumors, prompting the search for tumor suppressor genes on human chromosome 21 (HSA21). We aimed to identify and explore potential mechanisms of suppressors on HSA21 in hepatocellular carcinoma (HCC).
Source: Gastroenterology - Category: Gastroenterology Authors: Source Type: research
Abstract In addition to Down syndrome, individuals with other constitutional abnormalities of chromosome 21 have an increased risk of developing childhood acute lymphoblastic leukaemia (ALL). Specifically, carriers of the Robertsonian translocation between chromosomes 15 and 21, rob(15;21)(q10;q10)c, have ∼2,700 increased risk of developing ALL with iAMP21 (intrachromosomal amplification of chromosome 21). In these patients, chromosome 15 as well as chromosome 21 is involved in the formation of iAMP21, referred to here as der(21)(15;21). Individuals with constitutional ring chromosomes involving chromosome 21,...
Source: European Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Eur J Med Genet Source Type: research
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