All Outputs (917)

Whole-genome sequencing of a sporadic primary immunodeficiency cohort (2020)
Journal Article
Cooper, N., Abbs, S., Farmery, J. H., Deevi, S. V., Thaventhiran, J. E., Adhya, Z., Adlard, J., Afzal, M., Ahmed, I., Ahmed, M., Ahmed, S., Aitman, T. J., Alachkar, H., Anderson, J., Alamelu, J., Alikhan, R., Allen, C. E., Allen, L., Alvi, A., Ambegaonkar, G., …Smith, K. G. C. (2020). Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature, 583(7814), 90-95. https://doi.org/10.1038/s41586-020-2265-1

Primary immunodeficiency (PID) is characterized by recurrent and often life-threatening infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic challenges. Although the most severe forms of PID are identified in early child... Read More about Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Glucose concentration during equine in vitro maturation alters mitochondrial function (2020)
Journal Article
Lewis, N., Hinrichs, K., Leese, H. J., McGregor Argo, C., Brison, D. R., & Sturmey, R. G. (2020). Glucose concentration during equine in vitro maturation alters mitochondrial function. Reproduction, 160(2), 227-237. https://doi.org/10.1530/REP-20-0032

The use of in vitro embryo production in the horse is increasing in clinical and research settings, however, protocols are yet to be optimised. Notably, the two most commonly used base media for in vitro maturation (IVM) supply glucose at markedly di... Read More about Glucose concentration during equine in vitro maturation alters mitochondrial function.

The EAHAD blood coagulation factor VII variant database (2020)
Journal Article
Kemball-Cook, G., Giansily-Blaizot, M., Giansily‐Blaizot, M., Rallapalli, P. M., Perkins, S. J., Kemball‐Cook, G., Hampshire, D. J., Gomez, K., Ludlam, C. A., & McVey, J. H. (2020). The EAHAD blood coagulation factor VII variant database. Human Mutation, 41(7), 1209-1219. https://doi.org/10.1002/humu.24025

Hereditary blood coagulation factor VII (FVII) deficiency is a rare autosomal recessive bleeding disorder resulting from variants in the gene encoding FVII (F7 ). Integration of genetic variation with functional consequences on protein function is es... Read More about The EAHAD blood coagulation factor VII variant database.

The mitochondrial phosphate carrier TbMCP11 is essential for mitochondrial function in the procyclic form of Trypanosoma brucei (2020)
Journal Article
Gao, F., Voncken, F., & Colasante, C. (2020). The mitochondrial phosphate carrier TbMCP11 is essential for mitochondrial function in the procyclic form of Trypanosoma brucei. Molecular and Biochemical Parasitology, 237, Article 111275. https://doi.org/10.1016/j.molbiopara.2020.111275

Conserved amongst all eukaryotes is a family of mitochondrial carrier proteins (SLC25A) responsible for the import of various solutes across the inner mitochondrial membrane. We previously reported that the human parasite Trypanosoma brucei possesses... Read More about The mitochondrial phosphate carrier TbMCP11 is essential for mitochondrial function in the procyclic form of Trypanosoma brucei.

Do age-associated changes of voltage-gated sodium channel isoforms expressed in the mammalian heart predispose the elderly to atrial fibrillation? (2020)
Journal Article
Isaac, E., Cooper, S. M., Jones, S. A., & Loubani, M. (2020). Do age-associated changes of voltage-gated sodium channel isoforms expressed in the mammalian heart predispose the elderly to atrial fibrillation?. World Journal of Cardiology, 12(4), 123-135. https://doi.org/10.4330/wjc.v12.i4.123

© The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved. Atrial fibrillation (AF) is the most common cardiac arrhythmia worldwide. The prevalence of the disease increases with age, strongly implying an age-related proc... Read More about Do age-associated changes of voltage-gated sodium channel isoforms expressed in the mammalian heart predispose the elderly to atrial fibrillation?.

Metabolic profile of in vitro derived human embryos is not affected by the mode of fertilization (2020)
Journal Article
Sturmey, R. G., & Leary, C. (2020). Metabolic profile of in vitro derived human embryos is not affected by the mode of fertilization. Molecular Human Reproduction, 26(4), 277-287. https://doi.org/10.1093/molehr/gaaa015

The pattern of metabolism by early embryos in vitro has been linked to a range of phenotypes, including viability. However, the extent to which metabolic function of embryos is modified by specific methods used during ART has yet to be fully describ... Read More about Metabolic profile of in vitro derived human embryos is not affected by the mode of fertilization.

Secondary metabolites (essential oils) from sand-dune plants induce cytotoxic effects in cancer cells (2020)
Journal Article
Beeby, E., Magalhães, M., Poças, J., Collins, T., Lemos, M., Barros, L., Ferreira, I., Cabral, C., & Pires, I. M. (2020). Secondary metabolites (essential oils) from sand-dune plants induce cytotoxic effects in cancer cells. Journal of Ethnopharmacology, 258, Article 112803. https://doi.org/10.1016/j.jep.2020.112803

Ethnopharmacological relevance: Despite advances in modern therapeutic strategies, cancer remains the second leading cause of death worldwide. Therefore, there is a constant need to develop more efficient anticancer targeting strategies. The anticanc... Read More about Secondary metabolites (essential oils) from sand-dune plants induce cytotoxic effects in cancer cells.

Inhibition of Activin/Myostatin signalling induces skeletal muscle hypertrophy but impairs mouse testicular development (2020)
Journal Article
Vaughan, D., Ritvos, O., Mitchell, R., Kretz, O., Lalowski, M., Amthor, H., Chambers, D., Matsakas, A., Pasternack, A., Collins-Hooper, H., Ballesteros, R., Huber, T. B., Denecke, B., Widera, D., Mukherjee, A., & Patel, K. (2020). Inhibition of Activin/Myostatin signalling induces skeletal muscle hypertrophy but impairs mouse testicular development. European Journal of Translational Myology, 30(1), 62-78. https://doi.org/10.4081/ejtm.2019.8737

© 2020 PAGEPress Publications. All rights reserved. Numerous approaches are being developed to promote post-natal muscle growth based on attenuating Myostatin/Activin signalling for clinical uses such as the treatment neuromuscular diseases, cancer c... Read More about Inhibition of Activin/Myostatin signalling induces skeletal muscle hypertrophy but impairs mouse testicular development.

Effect of induced hypoglycemia on inflammation and oxidative stress in type 2 diabetes and control subjects (2020)
Journal Article
Kahal, H., Halama, A., Aburima, A., Bhagwat, A. M., Butler, A. E., Grauman, J., Suhre, K., Sathyapalan, T., & Atkin, S. L. (2020). Effect of induced hypoglycemia on inflammation and oxidative stress in type 2 diabetes and control subjects. Scientific reports, 10(1), Article 4750. https://doi.org/10.1038/s41598-020-61531-z

Intensive diabetes control has been associated with increased mortality in type 2 diabetes (T2DM); this has been suggested to be due to increased hypoglycemia. We measured hypoglycemia-induced changes in endothelial parameters, oxidative stress marke... Read More about Effect of induced hypoglycemia on inflammation and oxidative stress in type 2 diabetes and control subjects.

The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers (2020)
Journal Article
McVey, J. H., Rallapalli, P. M., Kemball‐Cook, G., Hampshire, D. J., Giansily‐Blaizot, M., Gomez, K., Perkins, S. J., & Ludlam, C. A. (2020). The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers. Haemophilia, 26(2), 306-313. https://doi.org/10.1111/hae.13947

Haemophilia published by John Wiley & Sons Ltd Introduction: Advances in genomic sequencing have facilitated the sequencing of genes associated with disorders of haemostasis. The identification of variants within genes and access to curated data in... Read More about The European Association for Haemophilia and Allied Disorders (EAHAD) Coagulation Factor Variant Databases: Important resources for haemostasis clinicians and researchers.

Spatial and pregnancy-related changes in the protein, amino acid, and carbohydrate composition of bovine oviduct fluid (2020)
Journal Article
Rodríguez-Alonso, B., Maillo, V., Acuña, O. S., López-Úbeda, R., Torrecillas, A., Simintiras, C. A., Sturmey, R., Avilés, M., Lonergan, P., & Rizos, D. (2020). Spatial and pregnancy-related changes in the protein, amino acid, and carbohydrate composition of bovine oviduct fluid. International Journal of Molecular Sciences, 21(5), Article 1681. https://doi.org/10.3390/ijms21051681

© 2020 by the authors. Licensee MDPI, Basel, Switzerland. Knowledge of how the biochemical composition of the bovine oviduct is altered due to the oviduct anatomy or the presence of an embryo is lacking. Thus, the aim of this study was to assess the... Read More about Spatial and pregnancy-related changes in the protein, amino acid, and carbohydrate composition of bovine oviduct fluid.

A critical review of the assessment of medical gloves (2020)
Journal Article
Preece, D., Lewis, R., & Carré, M. J. (2021). A critical review of the assessment of medical gloves. Tribology: Materials, Surfaces and Interfaces, 15(1), 10-19. https://doi.org/10.1080/17515831.2020.1730619

Medical protective gloves must be assessed to adequate standards before becoming available for commercial use. Strength, integrity and contamination are assessed at the manufacturing stage. However, concerns are raised over the standardisation of the... Read More about A critical review of the assessment of medical gloves.

Evaluation of a bispidine‐based chelator for gallium‐68 and of the porphyrin conjugate as PET/PDT theranostic agent (2020)
Journal Article
Price, T., Yap, S. Y., Gillet, R., Savoie, H., Charbonnière, L. J., Boyle, R. W., Nonat, A. M., & Stasiuk, G. J. (2020). Evaluation of a bispidine‐based chelator for gallium‐68 and of the porphyrin conjugate as PET/PDT theranostic agent. Chemistry: a European journal, 26(34), 7602-7608. https://doi.org/10.1002/chem.201905776

In this study a bispidine ligand has been applied to the complexation of gallium(III) and radiolabelled with gallium-68 for the first time. Despite its 5-coordinate nature, the resulting complex is stable in serum for over two hours, demonstrating a... Read More about Evaluation of a bispidine‐based chelator for gallium‐68 and of the porphyrin conjugate as PET/PDT theranostic agent.

Serum-profiling identifies ibrutinib as a treatment option for young adults with B-cell acute lymphoblastic leukaemia (2020)
Journal Article
Jordaens, S., Cooksey, L., Bonney, S., Orchard, L., Coutinho, M., Van Tendeloo, V., Mills, K. I., Orchard, K., & Guinn, B. (2020). Serum-profiling identifies ibrutinib as a treatment option for young adults with B-cell acute lymphoblastic leukaemia. British journal of haematology, 189(3), 500-512. https://doi.org/10.1111/bjh.16407

Acute lymphoblastic leukaemia (ALL) is a haematological malignancy that is characterized by the uncontrolled proliferation of immature lymphocytes. 80 % of cases occur in children where ALL is well understood and treated. However it has a devastating... Read More about Serum-profiling identifies ibrutinib as a treatment option for young adults with B-cell acute lymphoblastic leukaemia.

Serum profiling identifies ibrutinib as a treatment option for young adults with B‐cell acute lymphoblastic leukaemia (2020)
Journal Article
Jordaens, S., Cooksey, L., Bonney, S., Orchard, L., Coutinho, M., Van Tendeloo, V., Mills, K. I., Orchard, K., & Guinn, B. (2020). Serum profiling identifies ibrutinib as a treatment option for young adults with B‐cell acute lymphoblastic leukaemia. British journal of haematology, 189(3), 500-512. https://doi.org/10.1111/bjh.16407

Acute lymphoblastic leukaemia (ALL) is a haematological malignancy that is characterized by the uncontrolled proliferation of immature lymphocytes. 80% of cases occur in children where ALL is well understood and treated. However it has a devastating... Read More about Serum profiling identifies ibrutinib as a treatment option for young adults with B‐cell acute lymphoblastic leukaemia.

Investigation of the physiology and architecture of Salmonella Enteritidis biofilms under alkaline conditions (2020)
Journal Article
Papakonstantinou, A., & Efthimiou, G. (2020). Investigation of the physiology and architecture of Salmonella Enteritidis biofilms under alkaline conditions. Acta Scientific Microbiology, 3(3), 1-11

Formation of bacterial biοfilms is an important survival strategy in multiple adverse environments. It is often affected by the nature of the attachment surface, the bacterial strain and the surrounding physicochemical conditions. The effect of low p... Read More about Investigation of the physiology and architecture of Salmonella Enteritidis biofilms under alkaline conditions.

Good practice recommendations for the use of time-lapse technology (2020)
Journal Article
Apter, S., Ebner, T., Freour, T., Guns, Y., Kovacic, B., Le Clef, N., Marques, M., Meseguer, M., Montjean, D., Sfontouris, I., Sturmey, R., Coticchio, G., & ESHRE Working group on Time-lapse technology. (2020). Good practice recommendations for the use of time-lapse technology. Human Reproduction Open, 2020(2), Article hoaa008. https://doi.org/10.1093/hropen/hoaa008

STUDY QUESTION: What recommendations can be provided on the approach to and use of time-lapse technology (TLT) in an IVF laboratory? SUMMARY ANSWER: The present ESHRE document provides 11 recommendations on how to introduce TLT in the IVF laboratory... Read More about Good practice recommendations for the use of time-lapse technology.

A study of in vitro metabolism and cytotoxicity of mephedrone and methoxetamine in human and pig liver models using GC/MS and LC/MS analyses (2020)
Journal Article
Alshamaileh, M., Hussain, I., Baron, M., Croxton, R., Vetter, M., & Gonzalez-Rodriguez, J. (2020). A study of in vitro metabolism and cytotoxicity of mephedrone and methoxetamine in human and pig liver models using GC/MS and LC/MS analyses. Open Chemistry, 18(1), 1507-1522. https://doi.org/10.1515/chem-2020-0184

In the current study, the metabolism of two novel psychoactive substances (NPSs), mephedrone and methoxetamine (MXE), was studied in vitro in pig liver microsomes to determine potential metabolites by liquid chromatography-mass spectrometry (LC-MS).... Read More about A study of in vitro metabolism and cytotoxicity of mephedrone and methoxetamine in human and pig liver models using GC/MS and LC/MS analyses.

Water-Soluble Rhenium Phosphine Complexes Incorporating the Ph2C(X) Motif (X = O–, NH–): Structural and Cytotoxicity Studies (2020)
Journal Article
Alshamrani, A. F., Prior, T. J., Burke, B. P., Roberts, D. P., Archibald, S. J., Higham, L. J., Stasiuk, G., & Redshaw, C. (2020). Water-Soluble Rhenium Phosphine Complexes Incorporating the Ph2C(X) Motif (X = O–, NH–): Structural and Cytotoxicity Studies. Inorganic chemistry, 59(4), 2367-2378. https://doi.org/10.1021/acs.inorgchem.9b03239

Reaction of [ReOCl3(PPh3)2] or [ReO2I(PPh3)2] with 2,2′-diphenylglycine (dpgH2) in refluxing ethanol afforded the air-stable complex [ReO(dpgH)(dpg)(PPh3)] (1). Treatment of [ReO(OEt)I2(PPh3)2] with 1,2,3-triaza-7-phosphaadamantane (PTA) afforded the... Read More about Water-Soluble Rhenium Phosphine Complexes Incorporating the Ph2C(X) Motif (X = O–, NH–): Structural and Cytotoxicity Studies.

Combined magnetic resonance imaging and photodynamic therapy using polyfunctionalised nanoparticles bearing robust gadolinium surface units (2020)
Journal Article
Chabloz, N., Perry, H., Yoon, I.-C., Coulson, A., White, A., Stasiuk, G., Botnar, R., & Wilton-Ely, J. (in press). Combined magnetic resonance imaging and photodynamic therapy using polyfunctionalised nanoparticles bearing robust gadolinium surface units. Chemistry: a European journal, https://doi.org/10.1002/chem.201904757

A robust dithiocarbamate tether allows novel gadolinium units based on DOTAGA (q = 1) to be attached to the surface of gold nanoparticles (2.6 ‐ 4.1 nm diameter) along with functional units offering biocompatibility, targeting and photodynamic therap... Read More about Combined magnetic resonance imaging and photodynamic therapy using polyfunctionalised nanoparticles bearing robust gadolinium surface units.