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RAD50 deficiency is a predictor of platinum sensitivity in sporadic epithelial ovarian cancers (2020)
Journal Article
Alblihy, A., Alabdullah, M. L., Toss, M. S., Algethami, M., Mongan, N. P., Rakha, E. A., & Madhusudan, S. (2020). RAD50 deficiency is a predictor of platinum sensitivity in sporadic epithelial ovarian cancers. Molecular Biomedicine, 1(1), Article 19. https://doi.org/10.1186/s43556-020-00023-y

Intrinsic or acquired resistance seriously limits the use of platinating agents in advanced epithelial ovarian cancers. Increased DNA repair capacity is a key route to platinum resistance. RAD50 is a critical component of the MRN complex, a ‘first re... Read More about RAD50 deficiency is a predictor of platinum sensitivity in sporadic epithelial ovarian cancers.

Preferential transcription of the mutated allele in NPM1 mutated acute myeloid leukaemia (2020)
Journal Article
Bailey, G. D., Doolan, L., Baskar, A., Smith, L. C., & Seedhouse, C. H. (2020). Preferential transcription of the mutated allele in NPM1 mutated acute myeloid leukaemia. Scientific Reports, 10, Article 17695. https://doi.org/10.1038/s41598-020-73782-x

Nucleophosmin is commonly both over-expressed and mutated in acute myeloid leukemia (AML). NPM1 mutations are always heterozygous. In addition, NPM1 has a number of different splice variants with the major variant encoded by exons 1–9 and 11–12 (NPM1... Read More about Preferential transcription of the mutated allele in NPM1 mutated acute myeloid leukaemia.

The era of CFTR modulators: improvements made and remaining challenges (2020)
Journal Article
Cuevas-Ocaña, S., Laselva, O., Avolio, J., & Nenna, R. (2020). The era of CFTR modulators: improvements made and remaining challenges. Breathe, 16(2), Article 200016. https://doi.org/10.1183/20734735.0016-2020

This last decade has created historical moments for CF, primarily driven by the development of CFTR modulators. First for patients with gating mutations who benefited from Kalydeco, then for those patients with one F508del copy who could benefit from... Read More about The era of CFTR modulators: improvements made and remaining challenges.

Inter- and Intra-individual Variation, and Limited Prognostic Utility, of Serum Alkaline Phosphatase in a Trial of Patients With Primary Sclerosing Cholangitis (2020)
Journal Article
Trivedi, P. J., Muir, A. J., Levy, C., Bowlus, C. L., Manns, M. P., Lu, X., …Hirschfield, G. M. (2021). Inter- and Intra-individual Variation, and Limited Prognostic Utility, of Serum Alkaline Phosphatase in a Trial of Patients With Primary Sclerosing Cholangitis. Clinical Gastroenterology and Hepatology, 19(6), 1248-1257. https://doi.org/10.1016/j.cgh.2020.07.032

Background & Aims Serum alkaline phosphatase (ALP) and the enhanced liver fibrosis (ELF) score are used as endpoints in trials of patients with primary sclerosing cholangitis (PSC). We aimed to quantify inter- and intra-individual variation in level... Read More about Inter- and Intra-individual Variation, and Limited Prognostic Utility, of Serum Alkaline Phosphatase in a Trial of Patients With Primary Sclerosing Cholangitis.

Association of Sperm-Associated Antigen 5 and Treatment Response in Patients With Estrogen Receptor–Positive Breast Cancer (2020)
Journal Article
Abdel-Fatah, T. M., Ball, G. R., Thangavelu, P. U., Reid, L. E., Reed, A. E. M., Saunus, J. M., …Chan, S. Y. (2020). Association of Sperm-Associated Antigen 5 and Treatment Response in Patients With Estrogen Receptor–Positive Breast Cancer. JAMA Network Open, 3(7), Article e209486. https://doi.org/10.1001/jamanetworkopen.2020.9486

Importance There is no proven test that can guide the optimal treatment, either endocrine therapy or chemotherapy, for estrogen receptor–positive breast cancer. Objective To investigate the associations of sperm-associated antigen 5 (SPAG5) tran... Read More about Association of Sperm-Associated Antigen 5 and Treatment Response in Patients With Estrogen Receptor–Positive Breast Cancer.

Epithelial cell dysfunction, a major driver of asthma development (2020)
Journal Article
Heijink, I. H., Kuchibhotla, V. N. S., Roffel, M. P., Maes, T., Knight, D. A., Sayers, I., & Nawijn, M. C. (2020). Epithelial cell dysfunction, a major driver of asthma development. Allergy, 75(8), 1902-1917. https://doi.org/10.1111/all.14421

Airway epithelial barrier dysfunction is frequently observed in asthma and may have important implications. The physical barrier function of the airway epithelium is tightly interwoven with its immunomodulatory actions, while abnormal epithelial repa... Read More about Epithelial cell dysfunction, a major driver of asthma development.

Discovery of highly selective inhibitors of calmodulin-dependent kinases that restore insulin sensitivity in the diet-induced obese in vivo mouse model. (2020)
Journal Article
Fromont, C., Atzori, A., Kaur, D., Hashmi, L., Greco, G., Cabanillas, A., …Butterworth, S. (2020). Discovery of highly selective inhibitors of calmodulin-dependent kinases that restore insulin sensitivity in the diet-induced obese in vivo mouse model. Journal of Medicinal Chemistry, 63(13), 6784–6801. https://doi.org/10.1021/acs.jmedchem.9b01803

ERS international congress, madrid, 2019: Highlights from the airway diseases, asthma and COPD assembly (2020)
Journal Article
Lahousse, L., Bahmer, T., Cuevas-Ocaña, S., Flajolet, P., Mathioudakis, A. G., McDonnell, M., …Bonvini, S. J. (2020). ERS international congress, madrid, 2019: Highlights from the airway diseases, asthma and COPD assembly. ERJ Open Research, 6(1), https://doi.org/10.1183/23120541.00341-2019

The European Respiratory Society (ERS) International Congress 2019 in Madrid, Spain, was a platform for scientific discussion of the highest quality scientific research, cutting-edge techniques and innovative new therapies within the respiratory fiel... Read More about ERS international congress, madrid, 2019: Highlights from the airway diseases, asthma and COPD assembly.

FibroScan-AST (FAST) score for the non-invasive identification of patients with non-alcoholic steatohepatitis with significant activity and fibrosis: a prospective derivation and global validation study (2020)
Journal Article
Newsome, P. N., Sasso, M., Deeks, J. J., Paredes, A., Boursier, J., Chan, W., …Harrison, S. A. (2020). FibroScan-AST (FAST) score for the non-invasive identification of patients with non-alcoholic steatohepatitis with significant activity and fibrosis: a prospective derivation and global validation study. The Lancet Gastroenterology & Hepatology, 5(4), 362-373. https://doi.org/10.1016/S2468-1253%2819%2930383-8

Background The burden of non-alcoholic fatty liver disease (NAFLD) is increasing globally, and a major priority is to identify patients with non-alcoholic steatohepatitis (NASH) who are at greater risk of progression to cirrhosis, and who will be ca... Read More about FibroScan-AST (FAST) score for the non-invasive identification of patients with non-alcoholic steatohepatitis with significant activity and fibrosis: a prospective derivation and global validation study.