Whole exome sequencing in the diagnostic workup of patients with a bleeding diathesis

Autor: Nicole M. A. Blijlevens, M.R. Nijziel, Joline L Saes, Bert A. van der Reijden, Waander L. van Heerde, Y. Smit, Paul P. T. Brons, Annet Simons, Sonja A. de Munnik, Saskia E M Schols, Marjolijn C.J. Jongmans

Publikováno v: Haemophilia, 25, 127-135
Haemophilia, 25, 1, pp. 127-135
Haemophilia, 25(1), 127. Wiley-Blackwell

INTRODUCTION: Bleeding assessment tools and laboratory phenotyping often remain inconclusive in patients with a haemorrhagic diathesis. AIM: To describe the phenotype and genetic profile of patients with a bleeding tendency. METHODS: Whole exome sequ

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b970a0f32d5edcf2e3cd1010dff7ce04
https://doi.org/10.1111/hae.13638

miRNA-mediated TUSC3 deficiency enhances UPR and ERAD to promote metastatic potential of NSCLC

Autor: Ri Cui, Jeff E. Grotzke, Pooja Joshi, Siyeon Rhee, Yonghwan Kim, Nicola Zanesi, Young-Jun Jeon, Youngtae Jeong, Yong Peng, Patrick Nana-Sinkam, Gerard J. Nuovo, Sung Hak Kim, Peter Cresswell, Dongju Park, Sung-Suk Suh, Bum Kyu Lee, Carlo M. Croce, Hosung Sim, Johan Jeong, Taewan Kim, Michela Garofalo, Ichiro Nakano, Jonghwan Kim, Jieun Song, Guang Liang

Publikováno v: Nature Communications, Vol 9, Iss 1, Pp 1-13 (2018)
Nature Communications
Jeon, Y-J, Kim, T, Park, D, Nuovo, G J, Rhee, S, Joshi, P, Lee, B-K, Jeong, J, Suh, S-S, Grotzke, J E, Kim, S-H, Song, J, Sim, H, Kim, Y, Peng, Y, Jeong, Y, Garofalo, M, Zanesi, N, Kim, J, Liang, G, Nakano, I, Cresswell, P, Nana-Sinkam, P, Cui, R & Croce, C M 2018, ' miRNA-mediated TUSC3 deficiency enhances UPR and ERAD to promote metastatic potential of NSCLC ', Nature Communications, vol. 9, no. 1, pp. 5110 . https://doi.org/10.1038/s41467-018-07561-8

Non-small cell lung carcinoma (NSCLC) is leading cause of cancer-related deaths in the world. The Tumor Suppressor Candidate 3 (TUSC3) at chromosome 8p22 known to be frequently deleted in cancer is often found to be deleted in advanced stage of solid

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7959fee39af8d539bda5cccc973fa4c5
https://pubmed.ncbi.nlm.nih.gov/30504895

Zoledronic acid induces apoptosis via stimulating the expressions of ERN1, TLR2, and IRF5 genes in glioma cells

Autor: Biray Avci C, Kurt CC, Tepedelen BE, Ozalp O, Goker B, Mutlu Z, Dodurga Y, Elmas L, Gunduz C

Glioblastoma multiforme (GBM) is the most common and aggressive brain tumor that affects older people. Although the current therapeutic approaches for GBM include surgical resection, radiotherapy, and chemotherapeutic agent temozolomide, the median s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3566::84e73484097c9982018e1764f259a03a

The unfolded protein response is activated in skeletal muscle by high-fat feeding: potential role in the downregulation of protein synthesis

Autor: Marc Francaux, Paul J. Meakin, Louise Deldicque, Patrice D. Cani, Andrew Philp, Jean-Marc Raymackers, Keith Baar, Nathalie M. Delzenne, Michael L.J. Ashford

Publikováno v: American Journal of Physiology: Endocrinology and Metabolism, Vol. 299, no. 5, p. E695-705 (2010)

High-fat diets are known to decrease muscle protein synthesis, the adaptation to overload and insulin sensitivity. Conditions that disrupt endoplasmic reticulum (ER) homeostasis lead to the activation of the unfolded protein response (UPR) that is as

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fa6dba4b8e6bbcfa7a541ade81d7669
https://doi.org/10.1152/ajpendo.00038.2010

Evolutionary comparison provides evidence for pathogenicity of RMRP mutations

Autor: Belinda Campos-Xavier, Alexandre Reymond, Andrea Superti-Furga, Sheila Unger, Luisa Bonafé, Stylianos E. Antonarakis, Emmanouil T. Dermitzakis, Cheryl R Greenberg, Catherine Ucla, Andreas Zankl

Publikováno v: PLoS Genetics
PLOS Genetics, Vol. 1, No 4 (2005) P. e47
PLoS Genetics, Vol 1, Iss 4, p e47 (2005)
Plos Genetics, vol. 1, no. 4, pp. e47

Cartilage-hair hypoplasia (CHH) is a pleiotropic disease caused by recessive mutations in the RMRP gene that result in a wide spectrum of manifestations including short stature, sparse hair, metaphyseal dysplasia, anemia, immune deficiency, and incre

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f0dd8b6d76d88c56b692da489148a3a1
https://pubmed.ncbi.nlm.nih.gov/16244706