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https://www.readbyqxmd.com/read/28535250/evidence-for-the-deregulation-of-protein-turnover-pathways-in-atm-deficient-mouse-cerebellum-an-organotypic-study
#1
Catherine D Kim, Ryan E Reed, Meredith A Juncker, Zhide Fang, Shyamal D Desai
Interferon-stimulated gene 15 (ISG15), an antagonist of the ubiquitin pathway, is elevated in cells and brain tissues obtained from ataxia telangiectasia (A-T) patients. Previous studies reveal that an elevated ISG15 pathway inhibits ubiquitin-dependent protein degradation, leading to activation of basal autophagy as a compensatory mechanism for protein turnover in A-T cells. Also, genotoxic stress (ultraviolet [UV] radiation) deregulates autophagy and induces aberrant degradation of ubiquitylated proteins in A-T cells...
May 23, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28530660/endoglin-prevents-vascular-malformation-by-regulating-flow-induced-cell-migration-and-specification-through-vegfr2-signalling
#2
Yi Jin, Lars Muhl, Mikhail Burmakin, Yixin Wang, Anne-Claire Duchez, Christer Betsholtz, Helen M Arthur, Lars Jakobsson
Loss-of-function (LOF) mutations in the endothelial cell (EC)-enriched gene endoglin (ENG) cause the human disease hereditary haemorrhagic telangiectasia-1, characterized by vascular malformations promoted by vascular endothelial growth factor A (VEGFA). How ENG deficiency alters EC behaviour to trigger these anomalies is not understood. Mosaic ENG deletion in the postnatal mouse rendered Eng LOF ECs insensitive to flow-mediated venous to arterial migration. Eng LOF ECs retained within arterioles acquired venous characteristics and secondary ENG-independent proliferation resulting in arteriovenous malformation (AVM)...
May 22, 2017: Nature Cell Biology
https://www.readbyqxmd.com/read/28528991/craniofacial-linear-scleroderma-associated-with-retinal-telangiectasia-and-exudative-retinal-detachment
#3
Eva Lenassi, Grace Vassallo, Elias Kehdi, Alice S Chieng, Jane L Ashworth
No abstract text is available yet for this article.
May 18, 2017: Journal of AAPOS: the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus
https://www.readbyqxmd.com/read/28525681/unveiling-idiopathic-macular-telangiectasia-clinical-applications-of-optical-coherence-tomography-angiography
#4
Marco A Gonzalez, Diana Shechtman, Jay M Haynie, Leo Semes
PURPOSE: Idiopathic macular telangiectasia type 2 (IMT2) is a bilateral acquired maculopathy, with a spectrum of clinical presentations associated with inner retinal telangiectatic vascular anomalies. Cases often are underdiagnosed or misdiagnosed. Current diagnostic modalities such as spectral-domain optical coherence tomography (SD-OCT) and fluorescein angiography (FA) are valuable to the understanding of the clinicopathology. More recently, optical coherence tomography angiography (OCTA), as an emerging noninvasive technology, has been shown to be particularly useful in the assessment and management of IMT2...
May 19, 2017: European Journal of Ophthalmology
https://www.readbyqxmd.com/read/28524787/cerebral-hemorrhage-in-monozygotic-twins-with-hereditary-hemorrhagic-telangiectasia-case-report-and-hemorrhagic-risk-evaluation
#5
Abbas Rattani, Michael C Dewan, Vickie Hannig, Robert P Naftel, John C Wellons, Lori C Jordan
The authors present a case of monozygotic twins with hereditary hemorrhagic telangiectasia (HHT) who experienced cerebral arteriovenous malformation (AVM) hemorrhage at a very young age. The clinical variables influencing HHT-related AVM rupture are discussed, and questions surrounding the timing of screening and intervention are explored. This is only the second known case of monozygotic HHT twins published in the medical literature, and the youngest pair of first-degree relatives to experience AVM-related cerebral hemorrhage...
May 19, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28522059/asymptomatic-limb-telangiectasias
#6
Dan R Lopez Garcia, Ashley A Hamstra, Marta T Hampton, Jonathan S Ralston
No abstract text is available yet for this article.
June 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28521822/central-nervous-system-manganese-induced-lesions-and-clinical-consequences-in-patients-with-hereditary-hemorrhagic-telangiectasia
#7
M M Serra, C H Besada, A Cabana Cal, A Saenz, C V Stefani, D Bauso, A B Golimstok, J C Bandi, D H Giunta, C M Elizondo
BACKGROUND: Around 47-74% of patients with hereditary hemorrhagic telangiectasia (HHT) have hepatic vascular malformations (HVMs); magnetic resonance images (MRI) of the central nervous system (CNS) might show in T1 sequences a hyper-intensity signal in different areas, mainly in the basal ganglia (BG) as consequence of manganese (Mn) deposits as observed in cirrhotic patients. These patients might suffer from different neuropsychiatric disorders (hepatic encephalopathy). In HHT patients, even in the presence of hepatic shunts, hepatocellular function is usually preserved...
May 18, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28521290/mir-2964a-5p-binding-site-snp-regulates-atm-expression-contributing-to-age-related-cataract-risk
#8
Han Rong, Shanshan Gu, Guowei Zhang, Lihua Kang, Mei Yang, Junfang Zhang, Xinyue Shen, Huaijin Guan
This study was to explore the involvement of DNA repair genes in the pathogenesis of age-related cataract (ARC). We genotyped nine single nucleotide polymorphisms (SNPs) of genes responsible to DNA double strand breaks (DSBs) in 804 ARC cases and 804 controls in a cohort of eye diseases in Chinese population and found that the ataxia telangiectasia mutated (ATM) gene-rs4585:G>T was significantly associated with ARC risk. An in vitro functional test found that miR-2964a-5p specifically down-regulated luciferase reporter expression and ATM expression in the cell lines transfected with rs4585 T allele compared to rs4585 G allele...
May 3, 2017: Oncotarget
https://www.readbyqxmd.com/read/28508757/unilateral-nevoid-telangiectasia-a-condition-unmasked-by-hyperoestrogenism
#9
Andrea Michelerio, Nicolò Rivetti, Vittorio Bolcato, Giorgio Alberto Croci, Valeria Brazzelli
No abstract text is available yet for this article.
May 16, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/28508083/structures-of-closed-and-open-conformations-of-dimeric-human-atm
#10
Domagoj Baretić, Hannah K Pollard, David I Fisher, Christopher M Johnson, Balaji Santhanam, Caroline M Truman, Tomas Kouba, Alan R Fersht, Christopher Phillips, Roger L Williams
ATM (ataxia-telangiectasia mutated) is a phosphatidylinositol 3-kinase-related protein kinase (PIKK) best known for its role in DNA damage response. ATM also functions in oxidative stress response, insulin signaling, and neurogenesis. Our electron cryomicroscopy (cryo-EM) suggests that human ATM is in a dynamic equilibrium between closed and open dimers. In the closed state, the PIKK regulatory domain blocks the peptide substrate-binding site, suggesting that this conformation may represent an inactive or basally active enzyme...
May 2017: Science Advances
https://www.readbyqxmd.com/read/28507428/propranolol-therapy-for-infantile-hemangioma-our-experience
#11
Ling Zhang, Hai-Wei Wu, Weien Yuan, Jia-Wei Zheng
OBJECTIVE: Hemangiomas are the most common benign vascular tumors of infancy. Although most infantile hemangiomas (IHs) have the ability to involute spontaneously after initial proliferation and resolve without consequence, intervention is required in a subset of IHs, which develop complications resulting in ulceration, bleeding, or aesthetic deformity. The primary treatment for this subset of IHs is pharmacological intervention, and propranolol has become the new first-line treatment for complicated hemangiomas...
2017: Drug Design, Development and Therapy
https://www.readbyqxmd.com/read/28507315/the-herpesvirus-nuclear-egress-complex-component-ul31-can-be-recruited-to-sites-of-dna-damage-through-poly-adp-ribose-binding
#12
Maxwell R Sherry, Thomas J M Hay, Michael A Gulak, Arash Nassiri, Renée L Finnen, Bruce W Banfield
The herpes simplex virus (HSV) UL31 gene encodes a conserved member of the herpesvirus nuclear egress complex that not only functions in the egress of DNA containing capsids from the nucleus, but is also required for optimal replication of viral DNA and its packaging into capsids. Here we report that the UL31 protein from HSV-2 can be recruited to sites of DNA damage by sequences found in its N-terminus. The N-terminus of UL31 contains sequences resembling a poly (ADP-ribose) (PAR) binding motif suggesting that PAR interactions might mediate UL31 recruitment to damaged DNA...
May 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28507181/fli1-deficiency-induces-cxcl6-expression-in-dermal-fibroblasts-and-endothelial-cells-contributing-to-the-development-of-fibrosis-and-vasculopathy-in-systemic-sclerosis
#13
Takashi Taniguchi, Yoshihide Asano, Kouki Nakamura, Takashi Yamashita, Ryosuke Saigusa, Yohei Ichimura, Takehiro Takahashi, Tetsuo Toyama, Ayumi Yoshizaki, Shinichi Sato
OBJECTIVE: CXCL6, a chemokine with proangiogenic property, is reported to be involved in vasculopathy associated with systemic sclerosis (SSc). We investigated the contribution of CXCL6 to SSc development by focusing on the association of friend leukemia virus integration 1 (Fli1) deficiency, a potential predisposing factor of SSc, with CXCL6 expression and clinical correlation of serum CXCL6 levels. METHODS: mRNA levels of target genes and the binding of Fli1 to the CXCL6 promoter were evaluated by quantitative reverse transcription-PCR and chromatin immunoprecipitation, respectively...
May 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28505012/correlation-of-clinical-and-structural-progression-with-visual-acuity-loss-in-macular-telangiectasia-type-2-mactel-project-report-no-6-the-mactel-research-group
#14
Tunde Peto, Tjebo F C Heeren, Traci E Clemons, Ferenc B Sallo, Irene Leung, Emily Y Chew, Alan C Bird
PURPOSE: To evaluate progression of macular telangiectasia Type 2 lesions and their correlation with visual acuity. METHODS: An international multicenter prospective study with annual examinations including best-corrected visual acuity (BCVA), fundus photography, fluorescein angiography, and optical coherence tomography images graded centrally. Mixed models were used to estimate progression rates, and a generalized linear model to compute the relative risk of BCVA loss, loss of ellipsoid zone (EZ) reflectivity, development of pigment plaques, or neovascularization...
May 11, 2017: Retina
https://www.readbyqxmd.com/read/28502009/quantitative-mass-spectrometry-by-isotope-dilution-and-multiple-reaction-monitoring-mrm
#15
Paul Russo, Brian L Hood, Nicholas W Bateman, Thomas P Conrads
Selected reaction monitoring (SRM) is used in molecular profiling to detect and quantify specific known proteins in complex mixtures. Using isotope dilution (Barnidge et al., Anal Chem 75(3):445-451, 2003) methodologies, peptides can be quantified without the need for an antibody-based method. Selected reaction monitoring assays employ electrospray ionization mass spectrometry (ESI-MS) followed by two stages of mass selection: a first stage where the mass of the peptide ion is selected and, after fragmentation by collision-induced dissociation (CID), a second stage (tandem MS) where either a single (e...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/28495793/usp7-inhibition-alters-homologous-recombination-repair-and-targets-cll-cells-independent-of-atm-p53-functional-status
#16
Angelo Agathanggelou, Edward Smith, Nicholas J Davies, Marwan Kwok, Anastasia Zlatanou, Ceri E Oldreive, Jingwen Mao, David Da Costa, Sina Yadollahi, Tracey Perry, Pamela Kearns, Anna Skowronska, Elliot Yates, Helen Parry, Peter Hillmen, Celine Reverdy, Remi Delansorne, Shankara Paneesha, Guy Pratt, Paul Moss, A Malcolm R Taylor, Grant S Stewart, Tatjana Stankovic
The role of the deubiquitylase ubiquitin-specific protease 7 (USP7) in the regulation of the p53-dependent DNA damage response (DDR) pathway is well established. Whilst previous studies have mostly focused on the mechanisms underlying how USP7 directly controls p53 stability, we have recently shown that USP7 modulates the stability of the DNA damage responsive E3 ubiquitin ligase, RAD18. This suggests that targeting USP7 may have therapeutic potential even in tumors with defective p53 or ibrutinib resistance...
May 11, 2017: Blood
https://www.readbyqxmd.com/read/28495444/comparing-the-rtog-eortc-and-lent-soma-scoring-systems-for-the-evaluation-of-late-skin-toxicity-after-125-i-seed-brachytherapy-for-parotid-gland-cancer
#17
Ming-Hui Mao, Zhien Feng, Hua Li, Li-Zheng Qin, Jian-Hua Li, Xin Huang, Ru-Dong Xing, Jie Zhang, Jian-Guo Zhang, Zheng-Xue Han
PURPOSE: The Radiation Therapy Oncology Group (RTOG) and Late Effects Normal Tissue Task Force-Subjective, Objective, Management and Analytic (LENT-SOMA) scoring systems were compared for grading late skin effects after iodine-125 seed brachytherapy in parotid gland cancer patients. METHODS AND MATERIALS: A total of 109 patients diagnosed with parotid gland carcinoma were treated postoperatively with iodine-125 seed brachytherapy at a dose of 100-120 Gy. After 6-24 months of followup, telangiectasia, skin pigmentation, atrophy, fibrosis, and ulceration were scored according to both RTOG and LENT-SOMA scale criteria...
May 8, 2017: Brachytherapy
https://www.readbyqxmd.com/read/28495443/dose-volume-correlation-of-cumulative-vaginal-doses-and-late-toxicity-after-adjuvant-external-radiation-and-brachytherapy-for-cervical-cancer
#18
Roshni Singh, Supriya Chopra, Reena Engineer, Siji Paul, Sadhana Kannan, Sarthak Mohanty, Jamema Swamidas, Umesh Mahantshetty, Jaya Ghosh, Amita Maheshwari, T Surappa Shylasree, Rajendra Kerkar, Sudeep Gupta, Shyam Shrivastava
PURPOSE: To investigate dose-response relationship between vaginal doses and long-term morbidity. METHODS AND MATERIALS: Patients receiving adjuvant pelvic (chemo) radiation and brachytherapy for cervical cancer from January 2011 to December 2014 were included. Baseline vaginal length was determined clinically and from imaging at BT planning. Dose points were defined along mucosa and at 5 mm depth at 12, 3, 6, and 9 'o' clock positions at every 2 cm from apex to introitus...
May 8, 2017: Brachytherapy
https://www.readbyqxmd.com/read/28494714/is-the-hepatic-factor-a-mirna-that-maintains-the-integrity-of-pulmonary-microvasculature-by-inhibiting-the-vascular-endothelial-growth-factor
#19
Joseph John Vettukattil
The "hepatic factor," a molecule or group of molecules present in the hepatic venous blood, essential for the prevention of the development of pulmonary arteriovenous malformations (PAVMs) and right-to-left shunting has been a conceptual enigma in the understanding of many related conditions. Patients with various forms of liver diseases including acute hepatic failure, and others with normal hepatic function like hereditary hemorrhagic telangiectasia (HHT), inflammatory and parasitic disorders, cardiogenic hepatopulmonary syndrome (cHPS) and skin disorders like Dyskeratosis congenita are all known to cause PAVMs...
May 9, 2017: Current Cardiology Reviews
https://www.readbyqxmd.com/read/28492291/crisaborole-phosphodiesterase-inhibitor-for-treatment-of-atopic-dermatitis
#20
D M Paton
Atopic dermatitis (AD) is an extremely common condition affecting as many as 10-20% of children and 2-10% of adults. A particularly distressing symptom of AD is pruritus. One of the important aspects of AD is inflammation associated with increased activity of phosphodiesterase 4 (PDE4), resulting in decreased intracellular levels of cyclic adenosine monophosphate, which in turn causes increased production of inflammatory cytokines. Crisaborole was developed as a small-molecule, boron-based, selective PDE4 inhibitor that can be used topically...
April 2017: Drugs of Today
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