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https://www.readbyqxmd.com/read/27848077/identification-of-new-trip12-variants-and-detailed-clinical-evaluation-of-individuals-with-non-syndromic-intellectual-disability-with-or-without-autism
#1
Nuria C Bramswig, H-J Lüdecke, M Pettersson, B Albrecht, R A Bernier, K Cremer, E E Eichler, D Falkenstein, J Gerdts, S Jansen, A Kuechler, M Kvarnung, A Lindstrand, D Nilsson, A Nordgren, R Pfundt, L Spruijt, H M Surowy, B B A de Vries, T Wieland, H Engels, T M Strom, T Kleefstra, D Wieczorek
The ubiquitin pathway is an enzymatic cascade including activating E1, conjugating E2, and ligating E3 enzymes, which governs protein degradation and sorting. It is crucial for many physiological processes. Compromised function of members of the ubiquitin pathway leads to a wide range of human diseases, such as cancer, neurodegenerative diseases, and neurodevelopmental disorders. Mutations in the thyroid hormone receptor interactor 12 (TRIP12) gene (OMIM 604506), which encodes an E3 ligase in the ubiquitin pathway, have been associated with autism spectrum disorder (ASD)...
November 15, 2016: Human Genetics
https://www.readbyqxmd.com/read/27500488/recurrent-ezh1-mutations-are-a-second-hit-in-autonomous-thyroid-adenomas
#2
Davide Calebiro, Elisa S Grassi, Markus Eszlinger, Cristina L Ronchi, Amod Godbole, Kerstin Bathon, Fabiana Guizzardi, Tiziana de Filippis, Knut Krohn, Holger Jaeschke, Thomas Schwarzmayr, Rifat Bircan, Hulya Iliksu Gozu, Seda Sancak, Marek Niedziela, Tim M Strom, Martin Fassnacht, Luca Persani, Ralf Paschke
Autonomous thyroid adenomas (ATAs) are a frequent cause of hyperthyroidism. Mutations in the genes encoding the TSH receptor (TSHR) or the Gs protein α subunit (GNAS) are found in approximately 70% of ATAs. The involvement of other genes and the pathogenesis of the remaining cases are presently unknown. Here, we performed whole-exome sequencing in 19 ATAs that were paired with normal DNA samples and identified a recurrent hot-spot mutation (c.1712A>G; p.Gln571Arg) in the enhancer of zeste homolog 1 (EZH1) gene, which codes for a catalytic subunit of the polycomb complex...
September 1, 2016: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/25135760/smoking-induces-overexpression-of-immediate-early-genes-in-active-graves-ophthalmopathy
#3
Tereza Planck, Bushra Shahida, Hemang Parikh, Kristoffer Ström, Peter Åsman, Håkan Brorson, Bengt Hallengren, Mikael Lantz
BACKGROUND: Cigarette smoking is a risk factor for the development of Graves' ophthalmopathy (GO). In a previous study of gene expression in intraorbital fat, adipocyte-related immediate early genes (IEGs) were overexpressed in patients with GO compared to controls. We investigated whether IEGs are upregulated by smoking, and examined other pathways that may be affected by smoking. METHODS: Gene expression in intraorbital fat was studied in smokers (n=8) and nonsmokers (n=8) with severe active GO, as well as in subcutaneous fat in thyroid-healthy smokers (n=5) and nonsmokers (n=5) using microarray and real-time polymerase chain reaction (PCR)...
October 2014: Thyroid: Official Journal of the American Thyroid Association
https://www.readbyqxmd.com/read/24457236/associations-between-ts-ttf-1-fr-%C3%AE-fpgs-and-overall-survival-in-patients-with-advanced-non-small-cell-lung-cancer-receiving-pemetrexed-plus-carboplatin-or-gemcitabine-plus-carboplatin-as-first-line-chemotherapy
#4
COMPARATIVE STUDY
Bjørn H Grønberg, Marius Lund-Iversen, Erik H Strøm, Odd Terje Brustugun, Helge Scott
INTRODUCTION: Pemetrexed is effective in the treatment of non-small-cell lung cancer, mainly in nonsquamous cell carcinomas. Inhibition of thymidylate synthase (TS) is considered the key mechanism of action. Folate receptor-α facilitates uptake of pemetrexed. Polyglutamation by folylpolyglutamate synthetase enhances activity and prolongs cellular retention of pemetrexed. Thyroid transcription factor-1 (TTF-1) is mainly positive in nonsquamous cell carcinoma and has been proposed as a marker for sensitivity to pemetrexed...
October 2013: Journal of Thoracic Oncology
https://www.readbyqxmd.com/read/23800241/celiac-disease-and-other-autoimmune-diseases-in-patients-with-collagenous-colitis
#5
MULTICENTER STUDY
Lina Vigren, Curt Tysk, Magnus Ström, Anders F Kilander, Henrik Hjortswang, Johan Bohr, Cecilia Benoni, Lasse Larson, Klas Sjöberg
BACKGROUND AND AIMS: Collagenous colitis (CC) is associated with autoimmune disorders. The aim of the present study was to investigate the relationship between CC and autoimmune disorders in a Swedish multicenter study. METHODS: Patients with CC answered questionnaires about demographic data and disease activity. The patient's files were scrutinized for information about autoimmune diseases. RESULTS: A total number of 116 CC patients were included; 92 women, 24 men, median age 62 years (IQR 55-73)...
August 2013: Scandinavian Journal of Gastroenterology
https://www.readbyqxmd.com/read/21846902/malignancies-occurring-during-therapy-with-tyrosine-kinase-inhibitors-tkis-for-chronic-myeloid-leukemia-cml-and-other-hematologic-malignancies
#6
Dushyant Verma, Hagop Kantarjian, Sara S Strom, Mary Beth Rios, Elias Jabbour, Alfonso Quintas-Cardama, Srdan Verstovsek, Farhad Ravandi, Susan O'Brien, Jorge Cortes
Success of tyrosine kinase inhibitors (TKIs) in chronic myeloid leukemia (CML) has given patients hope for a long disease-free-survival. A longer survival raises the question of late effects, including development of another malignancy. Records of 1445 patients with CML/myeloproliferative neoplasm or other hematologic malignancies treated with TKIs were reviewed to investigate frequency and characteristics of second malignancies (other than acute myeloid leukemia, acute lymphocytic leukemia, or myelodysplastic syndrome)...
October 20, 2011: Blood
https://www.readbyqxmd.com/read/21538436/hepatic-organic-anion-transporting-polypeptide-transporter-and-thyroid-hormone-receptor-interplay-determines-cholesterol-and-glucose-homeostasis
#7
Henriette E Meyer zu Schwabedissen, Joseph A Ware, David Finkelstein, Amarjit S Chaudhry, Sara Mansell, Matilde Leon-Ponte, Stephen C Strom, Hani Zaher, Ute I Schwarz, David J Freeman, Erin G Schuetz, Rommel G Tirona, Richard B Kim
UNLABELLED: The role of organic anion transporting polypeptides (OATPs), particularly the members of OATP1B subfamily, in hepatocellular handling of endogenous and exogenous compounds is an important and emerging area of research. Using a mouse model lacking Slco1b2, the murine ortholog of the OATP1B subfamily, we have demonstrated previously that genetic ablation causes reduced hepatic clearance capacity for substrates. In this study, we focused on the physiological function of the hepatic OATP1B transporters...
August 2011: Hepatology: Official Journal of the American Association for the Study of Liver Diseases
https://www.readbyqxmd.com/read/20371703/a-novel-bile-acid-activated-vitamin-d-receptor-signaling-in-human-hepatocytes
#8
Shuxin Han, Tiangang Li, Ewa Ellis, Stephen Strom, John Y L Chiang
Vitamin D receptor (VDR) is activated by natural ligands, 1alpha, 25-dihydroxy-vitamin D(3) [1alpha,25(OH)(2)-D(3)] and lithocholic acid (LCA). Our previous study shows that VDR is expressed in human hepatocytes, and VDR ligands inhibit bile acid synthesis and transcription of the gene encoding cholesterol 7alpha-hydroxylase (CYP7A1). Primary human hepatocytes were used to study LCA and 1alpha,25(OH)(2)-D(3) activation of VDR signaling. Confocal immunofluorescent microscopy imaging and immunoblot analysis showed that LCA and 1alpha, 25(OH)(2)-D(3) induced intracellular translocation of VDR from the cytosol to the nucleus and also plasma membrane where VDR colocalized with caveolin-1...
June 2010: Molecular Endocrinology
https://www.readbyqxmd.com/read/18213620/risk-of-hypothyroidism-in-older-breast-cancer-patients-treated-with-radiation
#9
Grace L Smith, Benjamin D Smith, Sharon H Giordano, Ya Chen T Shih, Wendy A Woodward, Eric A Strom, George H Perkins, Welela Tereffe, Tse Kuan Yu, Thomas A Buchholz
BACKGROUND: Hypothyroidism is a potential complication after radiation therapy (RT) when treatment fields include the thyroid. The authors assessed risk of hypothyroidism in breast cancer patients who were receiving RT to a supraclavicular field, which typically includes a portion of thyroid. METHODS: The authors identified 38,255 women (aged>65) without history of hypothyroidism from the Surveillance, Epidemiology, and End Results (SEER)-Medicare cohort diagnosed with stage 0-III breast cancer from 1992-2002 and 111,944 cancer-free controls...
March 15, 2008: Cancer
https://www.readbyqxmd.com/read/15712375/thyroid-hormone-and-breast-carcinoma-primary-hypothyroidism-is-associated-with-a-reduced-incidence-of-primary-breast-carcinoma
#10
COMPARATIVE STUDY
Massimo Cristofanilli, Yuko Yamamura, Shu-Wan Kau, Therese Bevers, Sara Strom, Modesto Patangan, Limin Hsu, Savitri Krishnamurthy, Richard L Theriault, Gabriel N Hortobagyi
BACKGROUND: To investigate the role of primary hypothyroidism (HYPT) on breast carcinogenesis, the authors evaluated 1) the association between HYPT and a diagnosis of invasive breast carcinoma and 2) the clinicopathologic characteristics of breast carcinoma in patients with HYPT. METHODS: For this retrospective chart review study, 1136 women with primary breast carcinoma (PBC) were identified from the authors' departmental data base. These women (cases) were frequency-matched for age (+/- 5 years) and ethnicity with 1088 healthy participants (controls) who attended a breast carcinona screening clinic...
March 15, 2005: Cancer
https://www.readbyqxmd.com/read/12496046/do-thyroid-disorders-increase-the-risk-of-breast-cancer
#11
Michael S Simon, Mei-Tzu C Tang, Leslie Bernstein, Sandra A Norman, Linda Weiss, Ronald T Burkman, Janet R Daling, Dennis Deapen, Suzanne G Folger, Kathi Malone, Polly A Marchbanks, Jill A McDonald, Brian L Strom, Hoyt G Wilson, Robert Spirtas
The objective of this study was to determine whether thyroid disorders or treatment of such disorders affects the risk of breast cancer. Subjects aged 35-64 years were participants in the National Institute of Child Health and Human Development Women's Contraceptive and Reproductive Experiences Study, a population-based, case-control study of invasive breast cancer that was carried out at five sites in the United States. In-person interviews were completed for 4575 women (cases) with breast cancer (2953 white and 1622 black) and 4682 control women (3021 white and 1661 black)...
December 2002: Cancer Epidemiology, Biomarkers & Prevention
https://www.readbyqxmd.com/read/7771453/relation-of-benzodiazepine-use-to-the-risk-of-selected-cancers-breast-large-bowel-malignant-melanoma-lung-endometrium-ovary-non-hodgkin-s-lymphoma-testis-hodgkin-s-disease-thyroid-and-liver
#12
MULTICENTER STUDY
L Rosenberg, J R Palmer, A G Zauber, M E Warshauer, B L Strom, S Harlap, S Shapiro
Some animal data have raised the possibility that benzodiazepines influence the risk of selected cancers. With data collected in 1977-1991 in a US hospital-based study, the authors assessed the relation of benzodiazepine use to the risk of 11 cancers: breast (6,056 patients), large bowel (2,203), malignant melanoma (1,457), lung (1,365), endometrium (812), ovary (767), non-Hodgkin's lymphoma (382), testis (314), Hodgkin's disease (299), thyroid (111), and liver (37). Cases were compared with cancer controls (3,777 patients with other cancers) and noncancer controls (1,919 patients admitted for acute nonmalignant disorders)...
June 15, 1995: American Journal of Epidemiology
https://www.readbyqxmd.com/read/2926303/a-dual-role-of-growth-hormone-as-a-feminizing-and-masculinizing-factor-in-the-control-of-sex-specific-cytochrome-p-450-isozymes-in-rat-liver
#13
A Mode, E Wiersma-Larsson, A Ström, P G Zaphiropoulos, J A Gustafsson
The effects of GH on the major constitutive sex-specific forms of cytochrome P-450 (P-45015 beta and P-45016 alpha) were studied in hypophysectomized rats at the mRNA level. Time-course experiments were performed with or without simultaneous treatment with thyroxine and cortisol. Intermittent administration of GH, mimicking the male secretory pattern, caused complete masculinization of the male specific P-45016 alpha at a pretranslational level in the absence and presence of thyroxine and cortisol. When GH was administered continuously, mimicking the female secretory pattern, the female specific P-45015 beta was induced, an effect that was dramatically potentiated by simultaneous treatment with thyroxine and cortisol...
February 1989: Journal of Endocrinology
https://www.readbyqxmd.com/read/1496921/growth-hormone-regulation-of-hepatic-cytochrome-p450-expression-in-the-rat
#14
A Mode, P Tollet, A Ström, C Legraverend, C Liddle, J A Gustafsson
GH by means of its sexually differentiated secretory pattern is the predominant regulator of the expression of cytochrome P450 enzymes responsible for a sexual dimorphism of hepatic steroid metabolism. Other hormones, such as gonadal, thyroid and glucocorticoid hormones, as well as insulin appear to modulate the sexually differentiated expression of these enzymes. The major constitutively expressed sex specific forms of P450, belonging to the P4502C-subfamily, have been shown to be regulated by GH at the level of transcription...
1992: Advances in Enzyme Regulation
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