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hannan J

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https://www.readbyqxmd.com/read/29325022/large-scale-exome-datasets-reveal-a-new-class-of-adaptor-related-protein-complex-2-sigma-subunit-ap2%C3%AF-mutations-located-at-the-interface-with-the-ap2-alpha-subunit-that-impair-calcium-sensing-receptor-signalling
#1
Caroline M Gorvin, Raghu Metpally, Victoria J Stokes, Fadil M Hannan, Sarath B Krishnamurthy, John D Overton, Jeffrey G Reid, Gerda E Breitwieser, Rajesh V Thakker
Mutations of the sigma subunit of the heterotetrameric adaptor-related protein complex 2 (AP2σ) impair signalling of the calcium-sensing receptor (CaSR), and cause familial hypocalciuric hypercalcaemia type 3 (FHH3). To date, FHH3-associated AP2σ mutations have only been identified at one residue, Arg15. We hypothesized that additional rare AP2σ variants may also be associated with altered CaSR function and hypercalcaemia, and sought for these by analysing >111,995 exomes (>60,706 from ExAc and dbSNP, and 51,289 from the Geisinger Health System-Regeneron DiscovEHR dataset which also contains clinical data)...
January 9, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29318639/interaction-between-caffeine-and-polymorphisms-of-glutamate-ionotropic-receptor-nmda-type-subunit-2a-grin2a-and-cytochrome-p450-1a2-cyp1a2-on-parkinson-s-disease-risk
#2
Iris Y Kim, Éilis J O'Reilly, Katherine C Hughes, Xiang Gao, Michael A Schwarzschild, Marjorie L McCullough, Marian T Hannan, Rebecca A Betensky, Alberto Ascherio
BACKGROUND: Caffeine intake has been inversely associated with Parkinson's disease (PD) risk. This relationship may be modified by polymorphisms of glutamate ionotropic receptor NMDA type subunit 2A (GRIN2A) and cytochrome P450 1A2 (CYP1A2), but the results of previous studies have been inconsistent. METHOD: We examined the interaction of caffeine intake with GRIN2A-rs4998386 and CYP1A2-rs762551 polymorphisms in influencing PD risk among 829 incident cases of PD and 2,754 matched controls selected among participants in the following 3 large prospective ongoing cohorts: the Nurses' Health Study, the Health Professionals' Follow-up Study, and the Cancer Prevention Study II Nutrition Cohort...
January 10, 2018: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29310328/the-significance-of-braf-v600e-mutation-status-discordance-between-primary-cutaneous-melanoma-and-brain-metastases-the-implications-for-braf-inhibitor-therapy
#3
Enda J Hannan, Donal P O'Leary, Stephen P MacNally, Elaine W Kay, Michael A Farrell, Patrick G Morris, Colm P Power, Arnold D K Hill
To compare BRAF V600E status of primary melanoma and brain metastases to assess for discordance by cross-sectional study, and to evaluate clinical implications on BRAF inhibitor therapy.Brain metastases are common in patients with advanced melanoma. Between 40% and 60% of melanomas demonstrate BRAF mutations, BRAF V600E being most common. Selective BRAF inhibitor therapy has shown improvement in outcome in patients with melanoma. It has been demonstrated that not all metastatic lesions carry the same BRAF mutation status as the primary, but the frequency in which discordance occurs remains unclear...
December 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29282471/association-of-coronary-vessel-characteristics-with-outcome-in-patients-with-percutaneous-coronary-interventions-with-incomplete-revascularization
#4
Edward L Hannan, Ye Zhong, Peter B Berger, Alice K Jacobs, Gary Walford, Frederick S K Ling, Ferdinand J Venditti, Spencer B King
Importance: Many studies have compared outcomes for incomplete revascularization (IR) among patients undergoing percutaneous coronary interventions (PCI), but little is known about whether outcomes are related to the nature of the IR. Objective: To determine whether some coronary vessel characteristics are associated with worse outcomes in patients with PCI with IR. Design, Setting, and Participants: New York's PCI registry was used to examine mortality (median follow-up, 3...
December 27, 2017: JAMA Cardiology
https://www.readbyqxmd.com/read/29277490/gene-environment-interactions-informing-therapeutic-approaches-to-cognitive-and-affective-disorders
#5
REVIEW
Jake Rogers, Thibault Renoir, Anthony J Hannan
Gene-environment interactions drive experience-dependent changes in the brain that alter cognition, emotion and behaviour. Positive engagement with the environment, through novel experience and physical activity, can improve brain function, although the mechanisms mediating such experience-dependent plasticity remain to be fully elucidated. In this article, we discuss the therapeutic value of environmental stimuli, exercise and environmental enrichment (EE), for cognitive and affective disorders, with implications for the understanding and treatment of depression and anxiety disorders...
December 22, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/29243224/palbociclib-synergizes-with-braf-and-mek-inhibitors-in-treatment-na%C3%A3-ve-melanoma-but-not-after-the-development-of-braf-inhibitor-resistance
#6
Claire A Martin, Carleen Cullinane, Laura Kirby, Shatha Abuhammad, Emily J Lelliott, Kelly Waldeck, Richard J Young, Natalie Brajanovski, Donald P Cameron, Rachael Walker, Elaine Sanij, Gretchen Poortinga, Ross D Hannan, Richard B Pearson, Rodney J Hicks, Grant A McArthur, Karen E Sheppard
Increased CDK4 activity occurs in the majority of melanomas and CDK4/6 inhibitors in combination with BRAF and MEK inhibitors are currently in clinical trials for the treatment of melanoma. We hypothesize that the timing of the addition of CDK4/6 inhibitors to the current BRAF and MEK inhibitor regime will impact on the efficacy of this triplet drug combination. The efficacy of BRAF, MEK and CDK4/6 inhibitors as single agents and in combination were assessed in human BRAF mutant cell lines that were treatment naïve, BRAF inhibitor tolerant or had acquired resistance to BRAF inhibitors...
December 15, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/29212809/animal-models-of-preeclampsia-translational-failings-and-why
#7
Sarah A Marshall, Natalie J Hannan, Maria Jelinic, Thy P H Nguyen, Jane E Girling, Laura J Parry
Preeclampsia affects up to 8% of pregnancies worldwide and is a leading cause of both maternal and fetal morbidity and mortality. Our current understanding of the cause(s) of preeclampsia is far from complete, and the lack of a single reliable animal model that recapitulates all aspects of the disease further confounds our understanding. This is partially due to the heterogeneous nature of the disease, coupled with our evolving understanding of its etiology. Nevertheless, animal models are still highly relevant and useful tools that help us better understand the pathophysiology of specific aspects of preeclampsia...
December 6, 2017: American Journal of Physiology. Regulatory, Integrative and Comparative Physiology
https://www.readbyqxmd.com/read/29202042/relative-impact-of-complement-receptors-cd21-35-cr2-1-on-scrapie-pathogenesis-in-mice
#8
Sarah J Kane, Eric Swanson, Elizabeth O Gordon, Savannah Rocha, Heather R Bender, Luke R Donius, Adriano Aguzzi, Jonathan P Hannan, Mark D Zabel
Complement receptors 1 and 2 (CR1/2 or CD35/CD21) recognize complement-opsonized antigens to initiate innate and adaptive immunity, respectively. CD35 stimulates phagocytosis on macrophages and antigen presentation on follicular dendritic cells (FDCs). CD21 helps activate B cells as part of the B cell coreceptor with CD19 and CD81. Differential splicing of transcripts from the mouse Cr2 gene generates isoforms with both shared and unique complement binding capacities and cell-type expression. In mouse models, genetic depletion of Cr2 causes either a delay or complete prevention of prion disease, but the relative importance of CD35 versus CD21 in promoting prion disease remains unknown...
November 2017: MSphere
https://www.readbyqxmd.com/read/29187587/modulation-of-the-alternative-pathway-of-complement-by-murine-factor-h-related-proteins
#9
Alexandra H Antonioli, Janice White, Frances Crawford, Brandon Renner, Kevin J Marchbank, Jonathan P Hannan, Joshua M Thurman, Philippa Marrack, V Michael Holers
Factor H (FH) is a key alternative pathway regulator that controls complement activation both in the fluid phase and on specific cell surfaces, thus allowing the innate immune response to discriminate between self and foreign pathogens. However, the interrelationships between FH and a group of closely related molecules, designated the FH-related (FHR) proteins, are currently not well understood. Whereas some studies have suggested that human FHR proteins possess complement regulatory abilities, recent studies have shown that FHR proteins are potent deregulators...
November 29, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29117414/monovision-lasik-versus-presbyopia-correcting-iols-comparison-of-clinical-and-patient-reported-outcomes
#10
Steven C Schallhorn, David Teenan, Jan A Venter, Julie M Schallhorn, Keith A Hettinger, Stephen J Hannan, Martina Pelouskova
PURPOSE: To compare clinical and quality of life outcomes between patients who underwent monovision LASIK and refractive lens exchange. METHODS: The study comprised 590 patients with refractive lens exchange and 608 patients with monovision LASIK available for 3-month postoperative clinical visits. All patients with refractive lens exchange had a Tecnis Symfony lens (Johnson & Johnson Vision Care, Inc., Santa Ana, CA) in at least one eye. Patients were divided into four refractive categories: moderate to high myopia, low myopia, plano presbyopia, and hyperopia...
November 1, 2017: Journal of Refractive Surgery
https://www.readbyqxmd.com/read/29110801/enhanced-electrical-field-stimulated-nitrergic-and-purinergic-vasoreactivity-in-distal-vs-proximal-internal-pudendal-arteries
#11
Michael R Odom, Elena S Pak, David A Brown, Johanna L Hannan
BACKGROUND: The internal pudendal arteries (IPAs) supply blood to the penis and are highly susceptible to vascular remodeling in rodent models of diabetes, hypertension, aging, and chronic kidney disease, thus contributing to erectile dysfunction. Interestingly, vascular remodeling primarily occurs in the distal and not in the proximal IPA, suggesting distinct local physiologic signaling differences within the IPA. AIM: To examine the role of purinergic signaling and neurotransmitter release by electrical field stimulation (EFS) in the regulation of proximal and distal IPA vascular tone...
November 2017: Journal of Sexual Medicine
https://www.readbyqxmd.com/read/28984997/nlrp3-il-1%C3%AE-mediates-denervation-during-bladder-outlet-obstruction-in-rats
#12
Robin Lütolf, Francis M Hughes, Brian M Inouye, Huixia Jin, Jennifer C McMains, Elena S Pak, Johanna L Hannan, J Todd Purves
AIMS: Denervation of the bladder is a detrimental consequence of bladder outlet obstruction (BOO). We have previously shown that, during BOO, inflammation triggered by the NLRP3 inflammasome in the urothelia mediates physiological bladder dysfunction and downstream fibrosis in rats. The aim of this study was to assess the effect of NLRP3-mediated inflammation on bladder denervation during BOO. METHODS: There were five groups of rats: (i) Control (no surgery); (ii) Sham-operated; (iii) BOO rats given vehicle; (iv) BOO rats given the NLRP3 inhibitor glyburide; and (v) BOO rats given the IL-1 receptor antagonist anakinra...
October 6, 2017: Neurourology and Urodynamics
https://www.readbyqxmd.com/read/28980621/hypoparathyroidism
#13
Michael Mannstadt, John P Bilezikian, Rajesh V Thakker, Fadil M Hannan, Bart L Clarke, Rejnmark Lars, Deborah M Mitchell, Tamara J Vokes, Karen K Winer, Dolores M Shoback
This corrects the article DOI: 10.1038/nrdp.2017.55.
October 5, 2017: Nature Reviews. Disease Primers
https://www.readbyqxmd.com/read/28971907/self-reverting-mutations-partially-correct-the-blood-phenotype-in-a-diamond-blackfan-anemia-patient
#14
Parvathy Venugopal, Sarah Moore, David M Lawrence, Amee J George, Ross D Hannan, Sarah Ce Bray, Luen Bik To, Richard J D'Andrea, Jinghua Feng, Amanda Tirimacco, Alexandra L Yeoman, Chun Chun Young, Miriam Fine, Andreas W Schreiber, Christopher N Hahn, Christopher Barnett, Ben Saxon, Hamish S Scott
No abstract text is available yet for this article.
September 29, 2017: Haematologica
https://www.readbyqxmd.com/read/28947613/activating-transcription-factor-3-is-reduced-in-preeclamptic-placentas-and-negatively-regulates-sflt-1-soluble-fms-like-tyrosine-kinase-1-soluble-endoglin-and-proinflammatory-cytokines-in-placenta
#15
Tu'uhevaha J Kaitu'u-Lino, Fiona C Brownfoot, Roxanne Hastie, Ashwini Chand, Ping Cannon, Minh Deo, Laura Tuohey, Clare Whitehead, Natalie J Hannan, Stephen Tong
Preeclampsia is a major pregnancy complication associated with poor placental perfusion and placental hypoxia. Systemic and placental inflammation and elevated placental secretion of the antiangiogenic factors sFlt-1 (soluble fms-like tyrosine kinase 1) and sEng (soluble endoglin) are hallmarks of preeclampsia, causing endothelial dysfunction and multiorgan injury. A molecule that links placental hypoxia, inflammation, and antiangiogenic factor release has not been described. ATF3 (activating transcription factor 3) is highly expressed in placenta...
November 2017: Hypertension
https://www.readbyqxmd.com/read/28914984/hypercalcemic-disorders-in-children
#16
REVIEW
Victoria J Stokes, Morten F Nielsen, Fadil M Hannan, Rajesh V Thakker
Hypercalcemia is defined as a serum calcium concentration that is greater than two standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive, and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms...
November 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28894356/refractive-lens-exchange-in-younger-and-older-presbyopes-comparison-of-complication-rates-3-months-clinical-and-patient-reported-outcomes
#17
Steven C Schallhorn, Julie M Schallhorn, Martina Pelouskova, Jan A Venter, Keith A Hettinger, Stephen J Hannan, David Teenan
PURPOSE: To compare refractive and visual outcomes, patient satisfaction, and complication rates among different age categories of patients who underwent refractive lens exchange (RLE). METHODS: A stratified, simple random sample of patients matched on preoperative sphere and cylinder was selected for four age categories: 45-49 years (group A), 50-54 years (group B), 55-59 years (group C), and 60-65 years (group D). Each group contained 320 patients. All patients underwent RLE with a multifocal intraocular lens at least in one eye...
2017: Clinical Ophthalmology
https://www.readbyqxmd.com/read/28880590/foot-pain-in-relation-to-ipsilateral-and-contralateral-lower-extremity-pain-in-a-population-based-study
#18
Alyssa B Dufour, Brian Halpern, Rock G Positano, Howard J Hillstrom, Marian T Hannan
BACKGROUND: Clinical observations note that foot pain can be linked to contralateral pain at the knee or hip, yet we are unaware of any community-based studies that have investigated the sidedness of pain. Because clinic-based patient samples are often different from the general population, the purpose of this study was to determine whether knee or hip pain is more prevalent with contralateral foot pain than with ipsilateral foot pain in a population-based cohort. METHODS: Framingham Foot Study participants (2002-2008) with information on foot, knee, and hip pain were included in this cross-sectional analysis...
July 2017: Journal of the American Podiatric Medical Association
https://www.readbyqxmd.com/read/28866418/peg-modification-of-amorfrutin-b-from-amorpha-fructicosa-increases-gastric-absorption-circulation-half-life-and-glucose-uptake-by-t3t-l1-adipocytes
#19
Mehdi Bin Samad, Md Nazmul Hasan, Sudipta Banarjee, Mizanur Rahman, Sabbir Raihan, Faika Laz Banti, Sania Sarker Sayfe, S M Nageeb Hasan, Farjana Akhter, Ashraf Ul Kabir, J M A Hannan
Through a simple PEG-conjugation of the natural product Amorfrutin B, we enhanced its pharmacokinetic profile. The PEGylated molecule displayed significantly improved gastrointestinal absorption (p<0.05) and had a longer systemic circulation life (p<0.05). Oral glucose tolerance study showed PEGylated Amorfrutin B displayed longer protection against oral glucose load compared to Amorfrutin B (p<0.05). It also showed significant improvement in glucose uptake in-vitro by T3T-L1 adipocytes (p<0.05)...
November 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28857066/hypoparathyroidism
#20
REVIEW
Michael Mannstadt, John P Bilezikian, Rajesh V Thakker, Fadil M Hannan, Bart L Clarke, Lars Rejnmark, Deborah M Mitchell, Tamara J Vokes, Karen K Winer, Dolores M Shoback
Hypoparathyroidism is a disease characterized by inadequately low circulating concentrations of parathyroid hormone (PTH) resulting in low calcium levels and increased phosphate levels in the blood. Symptoms of the disease result from increased neuromuscular irritability caused by hypocalcaemia and include tingling, muscle cramps and seizures. The most common cause of the disease is inadvertent removal of, or injury to, the parathyroid glands during neck surgery, followed by genetic, idiopathic and autoimmune aetiologies...
August 31, 2017: Nature Reviews. Disease Primers
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