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  1. Article: A Case Report of CHEK2 and MUTYH Germline Mutations Associated With Cholangiocarcinoma in a Young Patient.

    Rehman, Obaid / Sackfield, Bradley / Thoguluva Chandrasekar, Viveksandeep / Oliver, Jorge / Aswath, Ganesh

    Cureus

    2022  Volume 14, Issue 2, Page(s) e22631

    Abstract: Cholangiocarcinoma (CCA) is a major cause of primary liver carcinoma and has been associated with the penetrance of several germline mutations. We present a 31-year-old female evaluated for left upper quadrant pain and abnormal liver function tests. ... ...

    Abstract Cholangiocarcinoma (CCA) is a major cause of primary liver carcinoma and has been associated with the penetrance of several germline mutations. We present a 31-year-old female evaluated for left upper quadrant pain and abnormal liver function tests. Ultrasound revealed a nodule in the liver, and biopsy showed intrahepatic adenocarcinoma. Germline testing was positive for two mutations: c.1100delC and c.1227_1228dupGG on the CHEK2 gene and the MUTYH gene, respectively. The patient was started on chemotherapy and tolerated it well. We aimed to demonstrate an association between CHEK2 and MUTYH mutations with CCA and highlight the importance of genetic testing for at-risk patients.
    Language English
    Publishing date 2022-02-26
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2747273-5
    ISSN 2168-8184
    ISSN 2168-8184
    DOI 10.7759/cureus.22631
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Tratamiento en co-infección HIV-HCV y HBV-HCV

    Alejandro C Jmelnitzky / Oliver Jorge / Estela Manero

    Acta Gastroenterológica Latinoamericana, Vol 35, Iss 1, Pp S46-S

    2005  Volume 48

    Abstract: ...

    Abstract .
    Keywords Diseases of the digestive system. Gastroenterology ; RC799-869 ; Specialties of internal medicine ; RC581-951 ; Internal medicine ; RC31-1245 ; Medicine ; R
    Language Spanish
    Publishing date 2005-01-01T00:00:00Z
    Publisher Sociedad Argentina de Gastroenterología
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

    Full text online

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  3. Article ; Online: Epigenetic control of somatostatin and cortistatin expression by β amyloid peptide.

    Rubio, Alicia / Sánchez-Mut, José V / García, Esther / Velasquez, Zahady D / Oliver, Jorge / Esteller, Manel / Avila, Jesús

    Journal of neuroscience research

    2012  Volume 90, Issue 1, Page(s) 13–20

    Abstract: β Amyloid, present in senile plaques, has been related largely to neuronal loss in the brain of patients with Alzheimer's disease. However, how neurons respond to β amyloid insults is still poorly understood. Here we show that β amyloid increases ... ...

    Abstract β Amyloid, present in senile plaques, has been related largely to neuronal loss in the brain of patients with Alzheimer's disease. However, how neurons respond to β amyloid insults is still poorly understood. Here we show that β amyloid increases somatostatin and cortistatin gene expression mainly through an increase in histone 3 lysine 4 methylation (H3K4me3), a modification associated with transcriptional activation. Somatostatin and cortistatin partially decreased β amyloid toxicity in primary cortical neurons in culture. Thus we suggest that neurons respond to β amyloid insults by releasing somatostatin and cortistatin, which will act as a protective agent against β amyloid toxicity. Our results suggest a relevant function for both neuropeptides against β amyloid toxicity, providing new insights into Alzheimer's disease.
    MeSH term(s) Amyloid beta-Peptides/pharmacology ; Animals ; Cell Survival/drug effects ; Cells, Cultured ; Cerebral Cortex/cytology ; Drug Interactions ; Embryo, Mammalian ; Epigenomics ; Gene Expression Regulation/drug effects ; Glycogen Synthase Kinase 3/metabolism ; In Vitro Techniques ; Mice ; Mice, Inbred C57BL ; Neurons/drug effects ; Neuropeptides/genetics ; Neuropeptides/metabolism ; Phosphorylation/drug effects ; Serine/metabolism ; Somatostatin/genetics ; Somatostatin/metabolism ; Somatostatin/pharmacology ; Tubulin/metabolism
    Chemical Substances Amyloid beta-Peptides ; Neuropeptides ; Tubulin ; cortistatin ; Serine (452VLY9402) ; Somatostatin (51110-01-1) ; Glycogen Synthase Kinase 3 (EC 2.7.11.26)
    Language English
    Publishing date 2012-01
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 195324-2
    ISSN 1097-4547 ; 0360-4012
    ISSN (online) 1097-4547
    ISSN 0360-4012
    DOI 10.1002/jnr.22731
    Database MEDical Literature Analysis and Retrieval System OnLINE

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