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Results: 33
Mapping the structure of Borneo's tropical forests across a degradation gradient
M Pfeifer, L Kor, R Nilus, E Turner, J Cusack, I Lysenko, M Khoo, VK Chey, AC Chung, RM Ewers
Feb 23, 2018
South East Asia has the highest rate of lowland forest loss of any tropical region, with logging and deforestation for conversion to plantation agriculture being flagged as the most urgent threats. Detecting and mapping logging...
Midface toddler excoriation syndrome (MiTES) can be caused by autosomal recessive biallelic mutations in a gene for congenital insensitivity to pain, PRDM12.
BACKGROUND: Midface toddler excoriation syndrome (MiTES) is a condition recently reported in three unrelated children. Habitual scratching from the first year of life inflicted deep, chronic, scarring wounds around the nose and...
p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer.
Chey Loveday, Katherine Josephs, Daniel Chubb, Adam Gunning, Louise Izatt, Marc Tischkowitz, Sian Ellard, Clare Turnbull
Jun 11, 2018
CONTEXT: To date, penetrance figures for medullary thyroid cancer (MTC) for variants in rearranged during transfection (RET) have been estimated from families ascertained because of the presence of MTC. OBJECTIVE: To gain...
Adult Aged Carcinoma Neuroendocrine Databases Genetic Datasets as Topic Endocrinology Female Gene Frequency Humans Male Middle Aged Multiple Endocrine Neoplasia Type 2a Penetrance Polymorphism Single Nucleotide Practice Guidelines as Topic Prophylactic Surgical Procedures Proto-Oncogene Proteins c-ret Risk Assessment Societies Medical Thyroid Neoplasms Thyroidectomy United States Exome Sequencing
Digenic DUOX1 and DUOX2 mutations in cases with congenital hypothyroidism
Z Aycan, H Cangul, M Muzza, VN Bas, L Fugazzola, VK Chatterjee, L Persani, N Schoenmakers
Aug 01, 2017
Context: The DUOX2 enzyme generates hydrogen peroxide (H2O2), a crucial electron acceptor for the TPO-catalyzed iodination and coupling reactions mediating thyroid hormone biosynthesis. DUOX2 mutations result in...
The Factor Inhibiting HIF Asparaginyl Hydroxylase Regulates Oxidative Metabolism and Accelerates Metabolic Adaptation to Hypoxia.
Jingwei Sim, Andrew S Cowburn, Asis Palazon, Basetti Madhu, Petros A Tyrakis, David Macías, David M Bargiela, Sandra Pietsch, Michael Gralla, Colin E Evans, Thaksaon Kittipassorn, Yu CJ Chey, Cristina M Branco, Helene Rundqvist, Daniel J Peet, Randall S Johnson
Apr 10, 2018
Animals require an immediate response to oxygen availability to allow rapid shifts between oxidative and glycolytic metabolism. These metabolic shifts are highly regulated by the HIF transcription factor. The factor inhibiting...
HIF Hypoxia metabolism Adaptation Physiological Animals Cell Hypoxia Gene Expression Regulation Glycolysis Hypoxia-Inducible Factor-Proline Dioxygenases Male Mice Mice Inbred C57BL Mixed Function Oxygenases Oxygen Oxygen Consumption Procollagen-Proline Dioxygenase Signal Transduction Transcription Genetic Von Hippel-Lindau Tumor Suppressor Protein
Validation of loci at 2q14.2 and 15q21.3 as risk factors for testicular cancer.
Chey Loveday, Kevin Litchfield, Max Levy, Amy Holroyd, Peter Broderick, Zsofia Kote-Jarai, Alison M Dunning, Kenneth Muir, Julian Peto, Rosalind Eeles, Douglas F Easton, Darshna Dudakia, Nick Orr, Nora Pashayan, Alison Reid, Robert A Huddart, Richard S Houlston, Clare Turnbull
Feb 23, 2018
Testicular germ cell tumor (TGCT), the most common cancer in men aged 18 to 45 years, has a strong heritable basis. Genome-wide association studies (GWAS) have proposed single nucleotide polymorphisms (SNPs) at a number of loci...
Large-scale Analysis Demonstrates Familial Testicular Cancer to have Polygenic Aetiology.
Chey Loveday, Philip Law, Kevin Litchfield, Max Levy, Amy Holroyd, Peter Broderick, Zsofia Kote-Jarai, Alison M Dunning, Kenneth Muir, Julian Peto, Rosalind Eeles, Douglas F Easton, Darshna Dudakia, Nick Orr, Nora Pashayan, The PRACTICAL Consortium UK Testicular Cancer Collaboration, Alison Reid, Robert A Huddart, Richard S Houlston, Clare Turnbull
Sep 21, 2018
UNLABELLED: Testicular germ cell tumour (TGCT) is the most common cancer in young men. Multiplex TGCT families have been well reported and analyses of population cancer registries have demonstrated a four- to eightfold risk to...
Familial GWAS Genetics polygenic risk score Testicular germ cell tumour Biomarkers Tumor Case-Control Studies Environment Genetic Predisposition to Disease Genome-Wide Association Study Heredity Humans Life Style Male Multifactorial Inheritance Neoplasms Germ Cell and Embryonal Pedigree Phenotype Polymorphism Single Nucleotide Risk Assessment Risk Factors Testicular Neoplasms
Nonlinear superchiral meta-surfaces
VK Valev, JJ Baumberg, B De Clercq, N Braz, X Zheng, EJ Osley, S Vandendriessche, M Hojeij, C Blejean, J Mertens, CG Biris, V Volskiy, M Ameloot, Y Ekinci, GAE Vandenbosch, PA Warburton, VV Moshchalkov, NC Panoiu, T Verbiest
Sep 08, 2018
Circularly polarized light is incident on a nanostructured chiral meta-surface. In the nanostructured unit cells whose chirality matches that of light, superchiral light is forming and strong optical second harmonic generation...
Genomic landscape of platinum resistant and sensitive testicular cancers
Chey Loveday, Kevin Litchfield, Paula Z. Proszek, Alex J. Cornish, Flavia Santo, Max Levy, Geoff Macintyre, Amy Holryod, Peter Broderick, Darshna Dudakia, Barbara Benton, Maise al Bakir, Crispin Hiley, Emily Grist, Charles Swanton, Robert Huddart, Tom Powles, Simon Chowdhury, Janet Shipley, Simon O’Connor, James D. Brenton, Alison Reid, David Gonzalez de Castro, Richard S. Houlston, Clare Turnbull
May 04, 2021
Abstract: While most testicular germ cell tumours (TGCTs) exhibit exquisite sensitivity to platinum chemotherapy, ~10% are platinum resistant. To gain insight into the underlying mechanisms, we undertake whole exome sequencing...
eFORGE
CE Breeze, DS Paul, J van Dongen, LM Butcher, JC Ambrose, JE Barrett, R Lowe, VK Rakyan, V Iotchkova, M Frontini, K Downes, WH Ouwehand, J Laperle, P-É Jacques, G Bourque, AK Bergmann, R Siebert, E Vellenga, S Saeed, F Matarese, JHA Martens, HG Stunnenberg, AE Teschendorff, J Herrero, E Birney, I Dunham, S Beck
Oct 30, 2017
Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies
RG Feichtinger, M Oláhová, Y Kishita, C Garone, LS Kremer, M Yagi, T Uchiumi, AA Jourdain, K Thompson, AR D'Souza, R Kopajtich, CL Alston, J Koch, W Sperl, E Mastantuono, TM Strom, SB Wortmann, T Meitinger, G Pierre, PF Chinnery, ZM Chrzanowska-Lightowlers, RN Lightowlers, S DiMauro, SE Calvo, VK Mootha, M Moggio, M Sciacco, GP Comi, D Ronchi, K Murayama, A Ohtake, P Rebelo-Guiomar, M Kohda, D Kang, JA Mayr, RW Taylor, Y Okazaki, M Minczuk, H Prokisch
Oct 06, 2017
Germline and Somatic Genetic Variants in the p53 Pathway Interact to Affect Cancer Risk, Progression, and Drug Response.
Ping Zhang, Isaac Kitchen-Smith, Lingyun Xiong, Giovanni Stracquadanio, Katherine Brown, Philipp H Richter, Marsha D Wallace, Elisabeth Bond, Natasha Sahgal, Samantha Moore, Svanhild Nornes, Sarah De Val, Mirvat Surakhy, David Sims, Xuting Wang, Douglas A Bell, Jorge Zeron-Medina, Yanyan Jiang, Anderson J Ryan, Joanna L Selfe, Janet Shipley, Siddhartha Kar, Paul D Pharoah, Chey Loveday, Rick Jansen, Lukasz F Grochola, Claire Palles, Andrew Protheroe, Val Millar, Daniel V Ebner, Meghana Pagadala, Sarah P Blagden, Timothy S Maughan, Enric Domingo, Ian Tomlinson, Clare Turnbull, Hannah Carter, Gareth L Bond
Jan 26, 2021
Animals Antineoplastic Agents Biomarkers Pharmacological Carcinogenesis Case-Control Studies Cell Line Tumor Disease Progression Drug Resistance Neoplasm Female Genetic Predisposition to Disease Genome-Wide Association Study Germ-Line Mutation Humans Male Mice Mice Inbred BALB C Mice Nude Mutation Missense Neoplasms Polymorphism Single Nucleotide Prognosis Risk Factors Signal Transduction Treatment Outcome Tumor Suppressor Protein p53
Mars Science Laboratory CheMin Data From the Glen Torridon Region and the Significance of Lake-Groundwater Interactions in Interpreting Mineralogy and Sedimentary History
MT Thorpe, TF Bristow, EB Rampe, NJ Tosca, JP Grotzinger, KA Bennett, CN Achilles, DF Blake, SJ Chipera, G Downs, RT Downs, SM Morrison, V Tu, N Castle, P Craig, DJD Marais, RM Hazen, DW Ming, RV Morris, AH Treiman, DT Vaniman, AS Yen, AR Vasavada, E Dehouck, JC Bridges, J Berger, A McAdam, T Peretyazhko, KL Siebach, AB Bryk, VK Fox, CM Fedo
Nov 03, 2022
The Glen Torridon (GT) region in Gale crater, Mars is a region with strong clay mineral signatures inferred from orbital spectroscopy. The CheMin X‐ray diffraction (XRD) instrument onboard the Mars Science Laboratory rover...
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