keyword
https://read.qxmd.com/read/38328570/the-genetics-of-adipose-tissue-metabolism
#1
JOURNAL ARTICLE
Rebecca Dumbell, Roger D Cox
No abstract text is available yet for this article.
February 2024: Royal Society Open Science
https://read.qxmd.com/read/37713040/a-missense-mutation-in-zinc-finger-homeobox-3-zfhx3-impedes-growth-and-alters-metabolism-and-hypothalamic-gene-expression-in-mice
#2
JOURNAL ARTICLE
Patrick M Nolan, Gareth Banks, Nora Bourbia, Ashleigh G Wilcox, Liz Bentley, Lee Moir, Lee Kent, Rosie Hillier, Dana Wilson, Perry Barrett, Rebecca Dumbell
A protein altering variant in the gene encoding zinc finger homeobox-3 (ZFHX3) has recently been associated with lower BMI in a human genome-wide association study. We investigated metabolic parameters in mice harboring a missense mutation in Zfhx3 (Zfhx3Sci/+ ) and looked for altered in situ expression of transcripts that are associated with energy balance in the hypothalamus to understand how ZFHX3 may influence growth and metabolic effects. One-year-old male and female Zfhx3Sci/+ mice weighed less, had shorter body length, lower fat mass, smaller mesenteric fat depots, and lower circulating insulin, leptin, and insulin-like growth factor-1 (IGF1) concentrations than Zfhx3+/+ littermates...
October 2023: FASEB Journal: Official Publication of the Federation of American Societies for Experimental Biology
https://read.qxmd.com/read/36895243/case-of-incidental-thoracic-spinal-dumbbell-hemorrhagic-arachnoid-cyst-and-tentorial-metastasis-from-breast-carcinoma
#3
Gianluca Scalia, Roberta Costanzo, Manikon Poullay Silven, Domenico Gerardo Iacopino, Giovanni Federico Nicoletti, Gianluca Galvano, Giuseppe Emmanuele Umana
BACKGROUND: Spinal arachnoid cysts (SACs) in adults are typically acquired dural defects following trauma, inflammation, or infection. Brain metastases from breast cancer account for 5-12% of all CNS metastases and are mostly leptomeningeal. Here, the authors reported a 50-year-old female treated for a tentorial metastasis from breast carcinoma that underwent chemotherapy and radiotherapy. Three months later, she presented with a thoracic spinal extradural dumbbell hemorrhagic arachnoid cyst...
2023: Surgical Neurology International
https://read.qxmd.com/read/36091365/a-wars2-mutant-mouse-shows-a-sex-and-diet-specific-change-in-fat-distribution-reduced-food-intake-and-depot-specific-upregulation-of-wat-browning
#4
JOURNAL ARTICLE
Milan Mušo, Liz Bentley, Lucie Vizor, Marianne Yon, Keith Burling, Peter Barker, Louisa A K Zolkiewski, Roger D Cox, Rebecca Dumbell
Background: Increased waist-to-hip ratio (WHR) is associated with increased mortality and risk of type 2 diabetes and cardiovascular disease. The TBX15 - WARS2 locus has consistently been associated with increased WHR. Previous study of the hypomorphic Wars2 V117L/V117L mouse model found phenotypes including severely reduced fat mass, and white adipose tissue (WAT) browning, suggesting Wars2 could be a potential modulator of fat distribution and WAT browning. Methods: To test for differences in browning induction across different adipose depots of Wars2 V117L/V117L mice, we measured multiple browning markers of a 4-month old chow-fed cohort in subcutaneous and visceral WAT and brown adipose tissue (BAT)...
2022: Frontiers in Physiology
https://read.qxmd.com/read/36087557/breakups-of-chitosan-microcapsules-in-extensional-flow
#5
JOURNAL ARTICLE
Revaz Chachanidze, Kaili Xie, Jinming Lyu, Marc Jaeger, Marc Leonetti
The controlled rupture of a core-shell capsule and the timely release of encapsulated materials are essential steps of the efficient design of such carriers. The mechanical and physico-chemical properties of their shells (or membranes) mainly govern the evolution of such systems under stress and notably the link between the dynamics of rupture and the mechanical properties. This issue is addressed considering weakly cohesive shells made by the interfacial complexation of Chitosan and PFacid in a planar extensional flow...
August 31, 2022: Journal of Colloid and Interface Science
https://read.qxmd.com/read/35797483/perceptions-of-how-education-has-prepared-uk-veterinary-nurses-for-their-professional-role
#6
JOURNAL ARTICLE
Sarah R Vivian, Lucy Dumbell, Kate Wilkinson
Assessing how prepared individuals are for a career pathway is essential if job satisfaction and retention are to be considered within an industry. Determining how training prepares registered veterinary nurses (RVNs) will therefore provide employers and educators with valuable information about how education is meeting expectations and demands. A positivist, quantitative approach led to a cross-sectional study via an online questionnaire reaching 141 RVNs. Participants were demographically profiled prior to differences being determined between data sets using the Kruskal-Wallis H and Mann-Whitney U tests...
July 7, 2022: Journal of Veterinary Medical Education
https://read.qxmd.com/read/35711300/the-chemerin-cmklr1-axis-is-functionally-important-for-central-regulation-of-energy-homeostasis
#7
JOURNAL ARTICLE
Haesung Yun, Rebecca Dumbell, Katie Hanna, Junior Bowen, Samantha L McLean, Sriharsha Kantamneni, Klaus Pors, Qing-Feng Wu, Gisela Helfer
Chemerin is an adipokine involved in inflammation, adipogenesis, angiogenesis and energy metabolism, and has been hypothesized as a link between obesity and type II diabetes. In humans affected by obesity, chemerin gene expression in peripheral tissues and circulating levels are elevated. In mice, plasma levels of chemerin are upregulated by high-fat feeding and gain and loss of function studies show an association of chemerin with body weight, food intake and glucose homeostasis. Therefore, chemerin is an important blood-borne mediator that, amongst its other functions, controls appetite and body weight...
2022: Frontiers in Physiology
https://read.qxmd.com/read/35636209/mediastinal-paraganglioma-as-a-large-dumbell-tumor-a-case-report
#8
JOURNAL ARTICLE
Imene Bouassida, Bochra Zayene, Hazem Zribi, Amina Abdelkbir, Rahma Ayadi, Adel Marghli
Mediastinal paraganglioma presented as a large dumbbell tumor is a rare entity. We report a case of a 47 year old woman who suffered from spinal pain and sporadic lower limb paresis. The imaging studies showed a voluminous mass occupying the posterior mediastinum with right foraminal extension. For excellent results, a combined effort was necessary including thoracic and neurosurgeons teams. Complete resection was successfully performed without laminectomy. The operative course was uneventful.
May 4, 2022: International Journal of Surgery Case Reports
https://read.qxmd.com/read/35525985/early-onset-adverse-events-after-stereotactic-radiosurgery-for-jugular-foramen-schwannoma-a-mid-term-follow-up-single-center-review-of-46-cases
#9
JOURNAL ARTICLE
Young Goo Kim, Chang Kyu Park, Na Young Jung, Hyun Ho Jung, Jong Hee Chang, Jin Woo Chang, Won Seok Chang
BACKGROUND: Recently, stereotacitc radiosurgery (SRS) has been in the spotlight as an alternative therapeutic option for jugular foramen schwannomas (JFS). While most reported studies focus on the long-term efficacy and safety issues of SRS, none describe the early-onset adverse events (eAEs). We aimed to investigate the incidence, clinical characteristics, and mid-term outcomes of eAEs occurring within six months after SRS for JFS. METHODS: In this retrospective review, patients who underwent at least six months of follow-up were included among all patients with JFS who have performed SRS at our institution between July 2008 and November 2019...
May 7, 2022: Radiation Oncology
https://read.qxmd.com/read/35474620/an-appetite-for-growth-the-role-of-the-hypothalamic-pituitary-growth-hormone-axis-in-energy-balance
#10
REVIEW
Rebecca Dumbell
Links between the regulation of growth and energy balance are clear; to fuel growth, there must be consumption of energy. Therefore, it is perhaps intuitive that interactions between the hypothalamic - pituitary - growth hormone axis (growth axis) and pathways that drive metabolic processes exist. Overproduction of growth hormone has been associated with diabetes and metabolic disease for decades and the opposing effects of growth hormone and insulin have been studied since early experiments almost a century ago...
June 2022: Journal of Neuroendocrinology
https://read.qxmd.com/read/35317627/modelling-the-genetic-aetiology-of-complex-disease-human-mouse-conservation-of-noncoding-features-and-disease-associated-loci
#11
JOURNAL ARTICLE
George Powell, Helen Long, Louisa Zolkiewski, Rebecca Dumbell, Ann-Marie Mallon, Cecilia M Lindgren, Michelle M Simon
Understanding the genetic aetiology of loci associated with a disease is crucial for developing preventative measures and effective treatments. Mouse models are used extensively to understand human pathobiology and mechanistic functions of disease-associated loci. However, the utility of mouse models is limited in part by evolutionary divergence in transcription regulation for pathways of interest. Here, we summarize the alignment of genomic (exonic and multi-cell regulatory) annotations alongside Mendelian and complex disease-associated variant sites between humans and mice...
March 2022: Biology Letters
https://read.qxmd.com/read/34290091/linking-the-fto-obesity-rs1421085-variant-circuitry-to-cellular-metabolic-and-organismal-phenotypes-in-vivo
#12
JOURNAL ARTICLE
Samantha Laber, Sara Forcisi, Liz Bentley, Julia Petzold, Franco Moritz, Kirill S Smirnov, Loubna Al Sadat, Iain Williamson, Sophie Strobel, Thomas Agnew, Shahana Sengupta, Tom Nicol, Harald Grallert, Margit Heier, Julius Honecker, Joffrey Mianne, Lydia Teboul, Rebecca Dumbell, Helen Long, Michelle Simon, Cecilia Lindgren, Wendy A Bickmore, Hans Hauner, Philippe Schmitt-Kopplin, Melina Claussnitzer, Roger D Cox
Variants in FTO have the strongest association with obesity; however, it is still unclear how those noncoding variants mechanistically affect whole-body physiology. We engineered a deletion of the rs1421085 conserved cis-regulatory module (CRM) in mice and confirmed in vivo that the CRM modulates Irx3 and Irx5 gene expression and mitochondrial function in adipocytes. The CRM affects molecular and cellular phenotypes in an adipose depot-dependent manner and affects organismal phenotypes that are relevant for obesity, including decreased high-fat diet-induced weight gain, decreased whole-body fat mass, and decreased skin fat thickness...
July 2021: Science Advances
https://read.qxmd.com/read/33855455/petrosal-approach-with-preservation-of-the-superior-petrosal-sinus-the-graceful-petrosal-for-resection-of-giant-trigeminal-schwannoma-2-dimensional-operative-video
#13
JOURNAL ARTICLE
Kaith K Almefty, Ossama Al-Mefty
Trigeminal schwannomas are benign tumors amendable to curative surgical resection.1 Excellent outcomes, with preservation and improvement of cranial nerve function, including trigeminal nerve function, have been reported with microsurgical resection through skull base approaches.2 Dumbell shaped tumors, involving the middle and posterior fossa, are more challenging.3 They are resected via a middle cranial fossa approach with the expanded Meckel cave providing access to the posterior fossa. However, tumors with a large caudal extension below the internal auditory meatus typically cannot be adequately accessed with this approach and the posterior petrosal approach is utilized...
April 15, 2021: Operative Neurosurgery (Hagerstown, Md.)
https://read.qxmd.com/read/33007465/a-lead-candidate-functional-single-nucleotide-polymorphism-within-the-wars2-gene-associated-with-waist-hip-ratio-does-not-alter-rna-stability
#14
JOURNAL ARTICLE
Milan Mušo, Rebecca Dumbell, Sara Pulit, Nasa Sinnott-Armstrong, Samantha Laber, Louisa Zolkiewski, Liz Bentley, Melina Claussnitzer, Roger D Cox
We have prioritised a single nucleotide polymorphism (SNP) rs2645294 as one candidate functional SNP in the TBX15-WARS2 waist-hip-ratio locus using posterior probability analysis. This SNP is located in the 3' untranslated region of the WARS2 (tryptophanyl tRNA synthetase 2, mitochondrial) gene with which it has an expression quantitative trait in subcutaneous white adipose tissue. We show that transcripts of the WARS2 gene in a human white adipose cell line, heterozygous for the rs2645294 SNP, showed allelic imbalance...
November 2020: Biochimica et Biophysica Acta. Gene Regulatory Mechanisms
https://read.qxmd.com/read/29446979/synovial-sarcoma-mimicking-a-thoracic-dumbell-schwannoma-a-case-report
#15
JOURNAL ARTICLE
Susanth Subramanian, Gandham Edmond Jonathan, Bimal Patel, Krishna Prabhu
Introduction: Synovial sarcoma is a rare mesenchymal malignant neoplasm that accounts for less than 10% of soft tissue sarcomas. About 95% of the sarcomas occur in the extremities. Primary synovial sarcomas of the spine are a rare tumor arising from the paravertebral regions, paraspinal muscles or epidural spaces. Purpose: To report an atypical radiological presentation of synovial sarcoma of the thoracic spine mimicking a nerve sheath tumor in an elderly adult and describe the management with review of the literature...
February 2020: British Journal of Neurosurgery
https://read.qxmd.com/read/29433336/dumbell-atypical-teratoid-rhabdoid-tumour-at-rt-of-the-cervical-spine
#16
JOURNAL ARTICLE
Amit Amit, Atul Vats, Alireza Shoakazemi, Brian Herron, Anthony McCarthy, Robert Scott McConnell
Spinal Atypical Teratoid/Rhabdoid Tumour (AT/RT) is a highly malignant tumour, and its prognosis is dismal especially for very young patients. In this article, we present the case of a teenage boy with AT/RT in the cervical spine and its multimodality management. A review of the literature on ATRT of the spine is also presented.
June 2020: British Journal of Neurosurgery
https://read.qxmd.com/read/29107289/disruption-of-the-homeodomain-transcription-factor-orthopedia-homeobox-otp-is-associated-with-obesity-and-anxiety
#17
JOURNAL ARTICLE
Lee Moir, Elena G Bochukova, Rebecca Dumbell, Gareth Banks, Rasneer S Bains, Patrick M Nolan, Cheryl Scudamore, Michelle Simon, Kimberly A Watson, Julia Keogh, Elana Henning, Audrey Hendricks, Stephen O'Rahilly, Inês Barroso, Adrienne E Sullivan, David C Bersten, Murray L Whitelaw, Susan Kirsch, Elizabeth Bentley, I Sadaf Farooqi, Roger D Cox
OBJECTIVE: Genetic studies in obese rodents and humans can provide novel insights into the mechanisms involved in energy homeostasis. METHODS: In this study, we genetically mapped the chromosomal region underlying the development of severe obesity in a mouse line identified as part of a dominant N-ethyl-N-nitrosourea (ENU) mutagenesis screen. We characterized the metabolic and behavioral phenotype of obese mutant mice and examined changes in hypothalamic gene expression...
November 2017: Molecular Metabolism
https://read.qxmd.com/read/27874965/somatostatin-agonist-pasireotide-inhibits-exercise-stimulated-growth-in-the-male-siberian-hamster-phodopus-sungorus
#18
JOURNAL ARTICLE
R Dumbell, I Petri, F Scherbarth, V Diedrich, H A Schmid, S Steinlechner, P Barrett
The Siberian hamster (Phodopus sungorus) is a seasonal mammal, exhibiting a suite of physiologically and behaviourally distinct traits dependent on the time of year and governed by changes in perceived day length (photoperiod). These attributes include significant weight loss, reduced food intake, gonadal atrophy and pelage change with short-day photoperiod as in winter. The central mechanisms driving seasonal phenotype change during winter are mediated by a reduced availability of hypothalamic triiodothyronine (T3), although the downstream mechanisms responsible for physiological and behavioural changes are yet to be fully clarified...
January 2017: Journal of Neuroendocrinology
https://read.qxmd.com/read/27690690/dissociation-of-molecular-and-endocrine-circadian-rhythms-in-male-mice-lacking-bmal1-in-the-adrenal-cortex
#19
JOURNAL ARTICLE
Rebecca Dumbell, Alexei Leliavski, Olga Matveeva, Christopher Blaum, Anthony H Tsang, Henrik Oster
The circadian rhythm of glucocorticoids affects diverse physiological systems, including stress responses and the coordination of rhythmic functions in peripheral and central tissues. Circadian clocks are considered to be important coordinators of glucocorticoid release and loss of the core clock component Brain and muscle Arnt-like protein-1 leads to ablation of behavioral and physiological rhythms, hypocortisolism, impaired ACTH, and behavioral stress responses. Transplantation and conditional clock gene knock-down studies in mice suggest an important role of local adrenocortical clock function in this context...
November 2016: Endocrinology
https://read.qxmd.com/read/27506301/a-quasi-cyclic-rna-nano-scale-molecular-object-constructed-using-kink-turns
#20
JOURNAL ARTICLE
Lin Huang, David M J Lilley
k-Turns are widespread RNA architectural elements that mediate tertiary interactions. We describe a double-kink-turn motif comprising two inverted k-turns that forms a tight horse-shoe structure that can assemble into a variety of shapes by coaxial association of helical ends. Using X-ray crystallography we show that these assemble with two (dumbell), three (triangle) and four units (square), with or without bound protein, within the crystal lattice. In addition, exchange of a single basepair can almost double the pore radius or shape of a molecular assembly...
August 18, 2016: Nanoscale
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