• Development of a CRISPR/Cas9-based therapy for Hutchinson-Gilford progeria syndrome 

  NOURSHARGH, S; Santiago-Fernández, O; Osorio, F G; Quesada, V; Rodríguez, F; Basso, S; Maeso, D; Rolas, L; Barkaway, A; Folgueras, A R (Nature Research, 2019-02-18)

  CRISPR/Cas9-based therapies hold considerable promise for the treatment of genetic diseases. Among these, Hutchinson–Gilford progeria syndrome, caused by a point mutation in the LMNA gene, stands out as a potential candidate. ...

• The current landscape of European registries for rare endocrine conditions 

  Ali, SR; Bryce, J; Cools, M; Korbonits, M; Beun, JG; Taruscio, D; Danne, T; Dattani, M; Dekkers, OM; Linglart, A (BioScientifica, 2019-01)

  Objective To identify cross-border international registries for rare endocrine conditions that are led from Europe and to understand the extent of engagement with these registries within a network of reference centres ...

• Identification of AnnexinA1 as an endogenous regulator of RhoA, and its role in the pathophysiology and experimental therapy of type-2 diabetes. 

  PURVIS, G; Collino, M; Loiola, R-A; Baragetti, A; Chiazza, F; Brovelli, M; Sheikh, MH; Collotta, D; Cento, A; Mastrocola, R

• An Ectopically Expressed Serum miRNA Signature Is Prognostic, Diagnostic, and Biologically Related to Liver Allograft Rejection 

  Shaked, A; Chang, B-L; Barnes, MR; Sayre, P; Li, YR; Asare, S; DesMarais, M; Holmes, MV; Guettouche, T; Keating, BJ (Wiley, 2016-10-05)

  The ability to noninvasively diagnose acute cellular rejection (ACR) with high specificity and sensitivity would significantly advance personalized liver transplant recipient care and management of immunosuppression. We ...

• PTPN14 phosphatase and YAP promote TGFβ signalling in rheumatoid synoviocytes. 

  Bottini, A; Wu, DJ; Ai, R; Le Roux, M; Bartok, B; Bombardieri, M; Doody, KM; Zhang, V; Sacchetti, C; Zoccheddu, M (BMJ Publishing Group Ltd, 2019-02-26)

  OBJECTIVE: We aimed to understand the role of the tyrosine phosphatase PTPN14-which in cancer cells modulates the Hippo pathway by retaining YAP in the cytosol-in fibroblast-like synoviocytes (FLS) from patients with ...

• Findings of Impaired Hearing in Patients With Nonfluent/Agrammatic Variant Primary Progressive Aphasia. 

  Hardy, CJD; Frost, C; Sivasathiaseelan, H; Johnson, JCS; Agustus, JL; Bond, RL; Benhamou, E; Russell, LL; Marshall, CR; Rohrer, JD (American Medical Association, 2019-02-11)

  Importance: Despite being characterized as a disorder of language production, nonfluent/agrammatic variant primary progressive aphasia (nfvPPA) is frequently associated with auditory symptoms. However, to our knowledge, ...

• A subset of CCL25-induced gut-homing T cells affects intestinal immunity to infection and cancer. 

  Fu, Hongmei; Jangani, Maryam; Parmar, Aleesha; Wang, Guosu; Coe, David; Spear, Sarah; Sandrock, Inga; Capasso, Melania; Coles, Mark; Cornish, Georgina

  Protective immunity relies upon differentiation of T cells into the appropriate subtype required to clear infections and efficient effector T cell localization to antigen-rich tissue. Recent studies have highlighted the ...

• B cells in the formation of Tertiary Lymphoid Organs in autoimmunity, transplantation and tumorigenesis. 

  CORSIERO, E; DELVECCHIO, F; BOMBARDIERI, M; PITZALIS, CONSTANTINO (Elsevier, 2019-02-22)

  TLS develop in target organs of autoimmune diseases, transplantation and cancer. • TLS can function as germinal centres supporting B-cell selection/differentiation. • TLS can be destructive or have beneficial effects ...

• Automated localization and quality control of the aorta in cine CMR can significantly accelerate processing of the UK Biobank population data. 

  Biasiolli, L; Hann, E; Lukaschuk, E; Carapella, V; Paiva, JM; Aung, N; Rayner, JJ; Werys, K; Fung, K; Puchta, H (Public Library of Science, 2019-02-14)

  INTRODUCTION: Aortic distensibility can be calculated using semi-automated methods to segment the aortic lumen on cine CMR (Cardiovascular Magnetic Resonance) images. However, these methods require visual quality control ...

• Correction: Long-term intra-individual reproducibility of heart rate dynamics during exercise and recovery in the UK Biobank cohort (vol 12, e0183732, 2017) 

  Orini, M; Tinker, A; Munroe, PB; Lambiase, PD (Public Library of Science, 2018-02-12)

  The following information is omitted from the Funding section: This research has been conducted using the UK Biobank Resource under Application Number 8256 and supported in part by Medical Research Council grant MR/N025083/1.

• Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits. 

  van Setten, J; Verweij, N; Mbarek, H; Niemeijer, MN; Trompet, S; Arking, DE; Brody, JA; Gandin, I; Grarup, N; Hall, LM (Nature Publishing Group, 2019-01-24)

  Genome-wide association studies (GWAS) of quantitative electrocardiographic (ECG) traits in large consortia have identified more than 130 loci associated with QT interval, QRS duration, PR interval, and heart rate (RR ...

• Multi-Ancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. 

  de Vries, PS; Brown, MR; Bentley, AR; Sung, YJ; Winkler, TW; Ntalla, I; Schwander, K; Kraja, AT; Guo, X; Franceschini, N (Oxford University Press, 2019-01-29)

  An individual's lipid profile is influenced by genetic variants and alcohol consumption, but the contribution of interactions between these exposures has not been studied. We therefore incorporated gene-alcohol interactions ...

• Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (vol 50, pg 765, 2017) 

  Turcot, V; Lu, Y; Highland, HM; Schurmann, C; Justice, AE; Fine, RS; Bradfield, JP; Esko, T; Giri, A; Graff, M (2018-05)

• Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution. 

  Justice, AE; Karaderi, T; Highland, HM; Young, KL; Graff, M; Lu, Y; Turcot, V; Auer, PL; Fine, RS; Guo, X (Nature Research (part of Springer Nature), 2019-02-18)

  Body-fat distribution is a risk factor for adverse cardiovascular health consequences. We analyzed the association of body-fat distribution, assessed by waist-to-hip ratio adjusted for body mass index, with 228,985 predicted ...

• Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes 

  Mahajan, A; Wessel, J; Willems, SM; Zhao, W; Robertson, NR; Chu, AY; Gan, W; Kitajima, H; Taliun, D; Rayner, NW (Nature Research (part of Springer Nature), 2018-04-09)

  We aggregated coding variant data for 81,412 type 2 diabetes cases and 370,832 controls of diverse ancestry, identifying 40 coding variant association signals (P < 2.2 × 10−7); of these, 16 map outside known risk-associated ...

• Aged-senescent cells contribute to impaired heart regeneration 

  Lewis-McDougall, FC; RUCHAYA, PJ; Domenjo-Vila, E; Teoh, TS; Prata, L; Cottle, BJ; Clark, JE; Punjabi, PP; Awad, W; Torella, D (Wiley Online, 2019-03-10)

  Aging leads to increased cellular senescence and is associated with decreased potency of tissue‐specific stem/progenitor cells. Here, we have done an extensive analysis of cardiac progenitor cells (CPCs) isolated from human ...

• Differences in cardiovascular safety with non-steroidal anti-inflammatory drug therapy-A nationwide study in patients with osteoarthritis. 

  Barcella, CA; Lamberts, M; McGettigan, P; Fosbøl, EL; Lindhardsen, J; Torp-Pedersen, C; Gislason, GH; Olsen, A-MS (2018-11-28)

  Osteoarthritis (OA) and the non-steroidal anti-inflammatory drugs (NSAIDs) used to relieve OA-associated pain have been linked independently to increased cardiovascular risk. We examined the risk of cardiovascular events ...

• Germline and mosaic mutations causing pituitary tumours: genetic and molecular aspects. 

  Pepe, S; Korbonits, M; Iacovazzo, D (Bioscientifica, 2019-02-01)

  While 95% of pituitary adenomas arise sporadically without a known inheritable predisposing mutation, in about 5% of the cases they can arise in a familial setting, either isolated (familial isolated pituitary adenoma or ...

• Publisher Correction: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits. 

  Evangelou, E; Warren, HR; Mosen-Ansorena, D; Mifsud, B; Pazoki, R; Gao, H; Ntritsos, G; Dimou, N; Cabrera, CP; Karaman, I (Nature Research (part of Springer Nature), 2018-11-14)

  Correction to: Nature Genetics https://doi.org/10.1038/s41588-018-0205-x, published online 17 September 2018. In the version of this article originally published, the name of author Martin H. de Borst was coded incorrectly ...

• Novel methods in adrenal research: a metabolomics approach. 

  Papathomas, TG; Sun, N; Chortis, V; Taylor, AE; Arlt, W; Richter, S; Eisenhofer, G; Ruiz-Babot, G; Guasti, L; Walch, AK (Springer Link, 2019-02-06)

  Metabolic alterations have implications in a spectrum of tissue functions and disease. Aided by novel molecular biological and computational tools, our understanding of physiological and pathological processes underpinning ...

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