Comprehensive Testing for Continuity of Care Endocrinology Reference Guide Access the Insight You Need
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DIAGMOL Town, ZIPCODE :…………………………………………………… Director : Prof
Mr. Mrs. (IN UPPER CASE, please) Name:……………………………………………………. Maiden Name:……………………………………. DMGL / Service de Médecine Génétique Centre d’accueil des prélèvements (CAP) First name :………………………………………………… Bâtiment des Laboratoires (BATLab), local 8D-0-850.1 Date of birth : ............ / ........... / …………… 4 rue Gabrielle-Perret-Gentil, 1211 Genève 14 Legal representative (for minors) : father mother Molecular and Genomic Diagnostics Laboratory Name/first name :…………………………………………… Street/N°:……………………………………………………… http://www.hug-ge.ch/feuilles-de-demande DIAGMOL Town, ZIPCODE :…………………………………………………… Director : Prof. Stylianos ANTONARAKIS Hospitalisation Unit: …………… Physician :…………………… Lab managers: N° EdS : …………………………………………………………… Dr J.-L. BLOUIN, Dr Th. NOUSPIKEL, Dr. M. GUIPPONI Invoice address: Patient Prescriptor Insurance [email protected], [email protected], [email protected] Type of case : Disease AI Accident Pregnancy Lab direct or results: Phone/FAX: +41 (0) 22 37 21 826 / 21 860 N° AVS (Mandatory for AI) : ………………………...................... Sample Entrance Center (CAP) : Phone +41 (0) 22 37 21 800 Insurance : ………………… Insured N° : ……………………… PHYSICIAN PHYSICIAN (NAME/First name - Street/N°- Town, ZIPCODE - Phone/FAX. IN UPPER CASES, PLEASE) COPY TO OTHER PHYSICIAN (NAME/First name - Street/N°- Town, ZIPCODE - Phone/FAX. IN UPPER CASES, PLEASE) « The laboratory is granted permission by the Physician/Patient to transmit copies of the report to other physicians» Opposition of the patient to the registration of this request results in the electronic patient record (DPI) of the HUG If the patient belongs to a family already known to the laboratory, please indicate index case NAME: CLINICAL INFORMATIONS given by the physician: Ethnic origins Father Mother Currently pregnant Date of last menses Number of weeks of amenorrhea SAMPLE(S) Most of our tests work from 4 ml of blood in EDTA (children <2 ans : 1 On every and single NAME First name ml : ok) or from purified DNA (some exceptions apply for some tests) tube. -
Heterozygous ATP-Binding Cassette Transporter G5 Gene Deficiency and Risk of Coronary Artery Disease
bioRxiv preprint doi: https://doi.org/10.1101/780734; this version posted September 27, 2019. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY 4.0 International license. Heterozygous ATP-binding Cassette Transporter G5 Gene Deficiency and Risk of Coronary Artery Disease Short title: Heterozygous ABCG5 deficiency and risk of CAD Akihiro Nomura*, MD PhD, Connor A. Emdin*, DPhil, Hong Hee Won, PhD, Gina M. Peloso, PhD, Pradeep Natarajan, MD, Diego Ardissino, MD, John Danesh, FRCP DPhil, Heribert Schunkert, MD, Adolfo Correa, MD PhD, Matthew J. Bown, MD FRCS, Nilesh J. Samani, MD FRCP, Jeanette Erdmann, PhD, Ruth McPherson, MD, Hugh Watkins, MD PhD, Danish Saleheen, MD, Roberto Elosua, MD PhD, Masa-aki Kawashiri, MD PhD, Hayato Tada, MD PhD, Namrata Gupta, PhD, Svati H. Shah, MD MHS, Daniel J. Rader, MD, Stacey Gabriel, PhD, Amit V. Khera*, MD, Sekar Kathiresan*, MD *: These authors contributed equally Address for correspondence: Sekar Kathiresan, MD Verve Therapeutics 26 Landsdowne Street, 1st Floor Cambridge, MA 02139 Email: [email protected] Phone: 617 603 0070 bioRxiv preprint doi: https://doi.org/10.1101/780734; this version posted September 27, 2019. The copyright holder for this preprint (which was not certified by peer review) is the author/funder, who has granted bioRxiv a license to display the preprint in perpetuity. It is made available under aCC-BY 4.0 International license. Abstract Background: Familial sitosterolemia is a rare, recessive Mendelian disorder characterized by hyperabsorption and decreased biliary excretion of dietary sterols. -
Abstracts from the 9Th Biennial Scientific Meeting of The
International Journal of Pediatric Endocrinology 2017, 2017(Suppl 1):15 DOI 10.1186/s13633-017-0054-x MEETING ABSTRACTS Open Access Abstracts from the 9th Biennial Scientific Meeting of the Asia Pacific Paediatric Endocrine Society (APPES) and the 50th Annual Meeting of the Japanese Society for Pediatric Endocrinology (JSPE) Tokyo, Japan. 17-20 November 2016 Published: 28 Dec 2017 PS1 Heritable forms of primary bone fragility in children typically lead to Fat fate and disease - from science to global policy a clinical diagnosis of either osteogenesis imperfecta (OI) or juvenile Peter Gluckman osteoporosis (JO). OI is usually caused by dominant mutations affect- Office of Chief Science Advsor to the Prime Minister ing one of the two genes that code for two collagen type I, but a re- International Journal of Pediatric Endocrinology 2017, 2017(Suppl 1):PS1 cessive form of OI is present in 5-10% of individuals with a clinical diagnosis of OI. Most of the involved genes code for proteins that Attempts to deal with the obesity epidemic based solely on adult be- play a role in the processing of collagen type I protein (BMP1, havioural change have been rather disappointing. Indeed the evidence CREB3L1, CRTAP, LEPRE1, P4HB, PPIB, FKBP10, PLOD2, SERPINF1, that biological, developmental and contextual factors are operating SERPINH1, SEC24D, SPARC, from the earliest stages in development and indeed across generations TMEM38B), or interfere with osteoblast function (SP7, WNT1). Specific is compelling. The marked individual differences in the sensitivity to the phenotypes are caused by mutations in SERPINF1 (recessive OI type obesogenic environment need to be understood at both the individual VI), P4HB (Cole-Carpenter syndrome) and SEC24D (‘Cole-Carpenter and population level. -
1 ICR-Geneset Gene List
ICR-geneset Gene List. IMAGE ID UniGene Locus Name Cluster 20115 Hs.62185 SLC9A6 solute carrier family 9 (sodium/hydrogen exchanger), isoform 6 21738 21899 Hs.78353 SRPK2 SFRS protein kinase 2 21908 Hs.79133 CDH8 cadherin 8, type 2 22040 Hs.151738 MMP9 matrix metalloproteinase 9 (gelatinase B, 92kD gelatinase, 92kD type IV collagenase) 22411 Hs.183 FY Duffy blood group 22731 Hs.1787 PHRET1 PH domain containing protein in retina 1 22859 Hs.356487 ESTs 22883 Hs.150926 FPGT fucose-1-phosphate guanylyltransferase 22918 Hs.346868 EBNA1BP2 EBNA1 binding protein 2 23012 Hs.158205 BLZF1 basic leucine zipper nuclear factor 1 (JEM-1) 23073 Hs.284244 FGF2 fibroblast growth factor 2 (basic) 23173 Hs.151051 MAPK10 mitogen-activated protein kinase 10 23185 Hs.289114 TNC tenascin C (hexabrachion) 23282 Hs.8024 IK IK cytokine, down-regulator of HLA II 23353 23431 Hs.50421 RB1CC1 RB1-inducible coiled-coil 1 23514 23548 Hs.71848 Human clone 23548 mRNA sequence 23629 Hs.135587 Human clone 23629 mRNA sequence 23658 Hs.265855 SETMAR SET domain and mariner transposase fusion gene 23676 Hs.100841 Homo sapiens clone 23676 mRNA sequence 23772 Hs.78788 LZTR1 leucine-zipper-like transcriptional regulator, 1 23776 Hs.75438 QDPR quinoid dihydropteridine reductase 23804 Hs.343586 ZFP36 zinc finger protein 36, C3H type, homolog (mouse) 23831 Hs.155247 ALDOC aldolase C, fructose-bisphosphate 23878 Hs.99902 OPCML opioid binding protein/cell adhesion molecule-like 23903 Hs.12526 Homo sapiens clone 23903 mRNA sequence 23932 Hs.368063 Human clone 23932 mRNA sequence 24004 -
The Effect of Statin Treatment on Intratumoral Cholesterol Levels and LDL Receptor Expression: a Window-Of-Opportunity Breast Ca
Feldt et al. Cancer & Metabolism (2020) 8:25 https://doi.org/10.1186/s40170-020-00231-8 RESEARCH Open Access The effect of statin treatment on intratumoral cholesterol levels and LDL receptor expression: a window-of- opportunity breast cancer trial Maria Feldt1,2* , Julien Menard1, Ann H. Rosendahl1,2, Barbara Lettiero1, Pär-Ola Bendahl1, Mattias Belting1,2,3 and Signe Borgquist1,4 Abstract Background: Deregulated lipid metabolism is common in cancer cells and the mevalonate pathway, which synthesizes cholesterol, is central in lipid metabolism. This study aimed to assess statin-induced changes of the intratumoral levels of cholesterol and the expression of the low-density lipoprotein receptor (LDLR) to enhance our understanding of the role of the mevalonate pathway in cancer cholesterol metabolism. Methods: This study is based on a phase II clinical trial designed as a window-of-opportunity trial including 50 breast cancer patients treated with 80 mg of atorvastatin/day for 2 weeks, between the time of diagnosis and breast surgery. Lipids were extracted from frozen tumor tissue sampled pre- and post-atorvastatin treatment. Intratumoral cholesterol levels were measured using a fluorometric quantitation assay. LDLR expression was evaluated by immunohistochemistry on formalin-fixed paraffin-embedded tumor tissue. Paired blood samples pre- and post- atorvastatin were analyzed for circulating low-density lipoprotein (LDL), high-density lipoprotein (HDL), apolipoprotein A1, and apolipoprotein B. In vitro experiments on MCF-7 breast cancer cells treated with atorvastatin were performed for comparison on the cellular level. Results: In the trial, 42 patients completed all study parts. From the paired tumor tissue samples, assessment of the cholesterol levels was achievable for 14 tumors, and for the LDLR expression in 24 tumors. -
Participation of ABCA1 Transporter in Pathogenesis of Chronic Obstructive Pulmonary Disease
International Journal of Molecular Sciences Review Participation of ABCA1 Transporter in Pathogenesis of Chronic Obstructive Pulmonary Disease Stanislav Kotlyarov Department of Nursing, Ryazan State Medical University, 390026 Ryazan, Russia; [email protected] Abstract: Chronic obstructive pulmonary disease (COPD) is the important medical and social problem. According to modern concepts, COPD is a chronic inflammatory disease, macrophages play a key role in its pathogenesis. Macrophages are heterogeneous in their functions, which is largely determined by their immunometabolic profile, as well as the features of lipid homeostasis, in which the ATP binding cassette transporter A1 (ABCA1) plays an essential role. The objective of this work is the analysis of the ABCA1 protein participation and the function of reverse cholesterol transport in the pathogenesis of COPD. The expression of the ABCA1 gene in lung tissues takes the second place after the liver, which indicates the important role of the carrier in lung function. The participation of the transporter in the development of COPD consists in provision of lipid metabolism, regulation of inflammation, phagocytosis, and apoptosis. Violation of the processes in which ABCA1 is involved may be a part of the pathophysiological mechanisms, leading to the formation of a heterogeneous clinical course of the disease. Keywords: chronic obstructive pulmonary disease; COPD; inflammation; ABCA1; reverse cholesterol transport; innate immune system Citation: Kotlyarov, S. Participation of ABCA1 Transporter in Pathogenesis of Chronic Obstructive 1. Introduction Pulmonary Disease. Int. J. Mol. Sci. Chronic obstructive pulmonary disease (COPD) is one of the most widespread dis- 2021, 22, 3334. https://doi.org/ eases, it has great medical significance due to the high frequency of temporary and per- 10.3390/ijms22073334 sistent disability and mortality. -
1 CETP Inhibition Improves HDL Function but Leads to Fatty Liver and Insulin Resistance in CETP-Expressing Transgenic Mice on A
Page 1 of 55 Diabetes CETP inhibition improves HDL function but leads to fatty liver and insulin resistance in CETP-expressing transgenic mice on a high-fat diet Lin Zhu1,2, Thao Luu2, Christopher H. Emfinger1,2, Bryan A Parks5, Jeanne Shi2,7, Elijah Trefts3, Fenghua Zeng4, Zsuzsanna Kuklenyik5, Raymond C. Harris4, David H. Wasserman3, Sergio Fazio6 and John M. Stafford1,2,3,* 1VA Tennessee Valley Healthcare System, 2Division of Diabetes, Endocrinology, & Metabolism, 3Department of Molecular Physiology and Biophysics, 4Devision of Nephrology and Hypertension, Vanderbilt University School of Medicine. 5Division of Laboratory Sciences, Centers for Disease Control and Prevention. 6The Center for Preventive Cardiology at the Knight Cardiovascular Institute, Oregon Health & Science University. 7Trinity College of Art and Science, Duke University. * Address correspondence and request for reprints to: John. M. Stafford, 7445D Medical Research Building IV, Nashville, TN 37232-0475, phone (615) 936-6113, fax (615) 936- 1667 Email: [email protected] Running Title: CETP inhibition and insulin resistance Word Count: 5439 Figures: 7 Tables: 1 1 Diabetes Publish Ahead of Print, published online September 13, 2018 Diabetes Page 2 of 55 Abstract In clinical trials inhibition of cholesteryl ester transfer protein (CETP) raises HDL cholesterol levels but doesn’t robustly improve cardiovascular outcomes. About 2/3 of trial participants were obese. Lower plasma CETP activity is associated with increased cardiovascular risk in human studies, and protective aspects of CETP have been observed in mice fed a high-fat diet (HFD) with regard to metabolic outcomes. To define if CETP inhibition has different effects depending on the presence of obesity, we performed short- term anacetrapib treatment in chow- and HFD-fed CETP-transgenic mice. -
An Abundant Dysfunctional Apolipoprotein A1 in Human Atheroma
Cleveland State University EngagedScholarship@CSU Mathematics Faculty Publications Mathematics Department 2-1-2014 An Abundant Dysfunctional Apolipoprotein A1 in Human Atheroma Ying Huang Cleveland Clinic Joseph A. DiDonato Cleveland State University, [email protected] Bruce S. Levison Cleveland Clinic Dave Schmitt Cleveland Clinic Lin Li Cleveland Clinic Follow this and additional works at: https://engagedscholarship.csuohio.edu/scimath_facpub Part of the Mathematics Commons See next page for additional authors How does access to this work benefit ou?y Let us know! Repository Citation Huang, Ying; DiDonato, Joseph A.; Levison, Bruce S.; Schmitt, Dave; Li, Lin; Wu, Yuping; Buffa, Jennifer; Kim, Timothy; Gerstenecker, Gary S.; Gu, Xiaodong; Kadiyala, Chandra S.; Wang, Zeneng; Culley, Miranda K.; Hazen, Jennie E.; DiDonato, Anthony J.; Fu, Xiaoming; Berisha, Stela Z.; Peng, Daoquan; Nguyen, Truc T.; Liang, Shaohong; Chuang, Chia-Chi; Cho, Leslie; PLow, Edward F.; Fox, Paul L.; Gogonea, Valentin; Tang, W.H. Wilson; Parks, John S.; Fisher, Edward A.; Smith, Jonathan D.; and Hazen, Stanley L., "An Abundant Dysfunctional Apolipoprotein A1 in Human Atheroma" (2014). Mathematics Faculty Publications. 161. https://engagedscholarship.csuohio.edu/scimath_facpub/161 This Article is brought to you for free and open access by the Mathematics Department at EngagedScholarship@CSU. It has been accepted for inclusion in Mathematics Faculty Publications by an authorized administrator of EngagedScholarship@CSU. For more information, please contact [email protected]. Authors Ying Huang, Joseph A. DiDonato, Bruce S. Levison, Dave Schmitt, Lin Li, Yuping Wu, Jennifer Buffa, Timothy Kim, Gary S. Gerstenecker, Xiaodong Gu, Chandra S. Kadiyala, Zeneng Wang, Miranda K. Culley, Jennie E. -
Abstracts from the 50Th European Society of Human Genetics Conference: Electronic Posters
European Journal of Human Genetics (2019) 26:820–1023 https://doi.org/10.1038/s41431-018-0248-6 ABSTRACT Abstracts from the 50th European Society of Human Genetics Conference: Electronic Posters Copenhagen, Denmark, May 27–30, 2017 Published online: 1 October 2018 © European Society of Human Genetics 2018 The ESHG 2017 marks the 50th Anniversary of the first ESHG Conference which took place in Copenhagen in 1967. Additional information about the event may be found on the conference website: https://2017.eshg.org/ Sponsorship: Publication of this supplement is sponsored by the European Society of Human Genetics. All authors were asked to address any potential bias in their abstract and to declare any competing financial interests. These disclosures are listed at the end of each abstract. Contributions of up to EUR 10 000 (ten thousand euros, or equivalent value in kind) per year per company are considered "modest". Contributions above EUR 10 000 per year are considered "significant". 1234567890();,: 1234567890();,: E-P01 Reproductive Genetics/Prenatal and fetal echocardiography. The molecular karyotyping Genetics revealed a gain in 8p11.22-p23.1 region with a size of 27.2 Mb containing 122 OMIM gene and a loss in 8p23.1- E-P01.02 p23.3 region with a size of 6.8 Mb containing 15 OMIM Prenatal diagnosis in a case of 8p inverted gene. The findings were correlated with 8p inverted dupli- duplication deletion syndrome cation deletion syndrome. Conclusion: Our study empha- sizes the importance of using additional molecular O¨. Kırbıyık, K. M. Erdog˘an, O¨.O¨zer Kaya, B. O¨zyılmaz, cytogenetic methods in clinical follow-up of complex Y. -
Steroid Sulfatase of Human Leukocytes and Epidermis and the Diagnosis of Recessive X-Linked Ichthyosis
Steroid sulfatase of human leukocytes and epidermis and the diagnosis of recessive X-linked ichthyosis. E H Epstein Jr, M E Leventhal J Clin Invest. 1981;67(5):1257-1262. https://doi.org/10.1172/JCI110153. Research Article Patients with recessive X-linked ichthyosis, one of the inherited types of excessive stratum corneum cohesion, have deficient steroid sulfatase in fibroblasts grown from their dermis. Because of the expense and long period required to grow such cells, we have assayed this enzyme in peripheral blood leukocytes and found it to be undetectable in those from patients with this type of ichthyosis, but normal in those from patients with other hereditary or acquired types of ichthyosis. In addition, steroid sulfatase activity is less in leukocytes from women who are carriers of this disease than normal women, and this assay can be used to detect such carriers. Despite previous studies demonstrating that the gene for this enzyme escapes the inactivation of other x-chromosome genes, normal women have leukocyte steroid sulfatase activity only 1.3 times that of normal men, suggesting that some gene dosage compensation occurs. Normal human epidermis, the tissue most affected clinically, also expresses steroid sulfatase activity. The epidermal enzyme is similar in its subcellular localization, its molecular size, and kinetically to that of placenta, leukocytes, and fibroblasts. Find the latest version: https://jci.me/110153/pdf Steroid Sulfatase of Human Leukocytes and Epidermis and the Diagnosis of Recessive X-linked Ichthyosis ERVIN H. EPSTEIN, JR., and MARY E. LEVENTHAL, Dermatology Unit of the Medical Service, San Francisco General Hospital Medical Center, Department of Dermatology, University of California, San Francisco, California 94110 A B S T R A C T Patients with recessive X-linked pearance especially on the side of the neck, and the ichthyosis, one of the inherited types of excessive subsequently described comeal stippling (2). -
(12) Patent Application Publication (10) Pub. No.: US 2003/0082511 A1 Brown Et Al
US 20030082511A1 (19) United States (12) Patent Application Publication (10) Pub. No.: US 2003/0082511 A1 Brown et al. (43) Pub. Date: May 1, 2003 (54) IDENTIFICATION OF MODULATORY Publication Classification MOLECULES USING INDUCIBLE PROMOTERS (51) Int. Cl." ............................... C12O 1/00; C12O 1/68 (52) U.S. Cl. ..................................................... 435/4; 435/6 (76) Inventors: Steven J. Brown, San Diego, CA (US); Damien J. Dunnington, San Diego, CA (US); Imran Clark, San Diego, CA (57) ABSTRACT (US) Correspondence Address: Methods for identifying an ion channel modulator, a target David B. Waller & Associates membrane receptor modulator molecule, and other modula 5677 Oberlin Drive tory molecules are disclosed, as well as cells and vectors for Suit 214 use in those methods. A polynucleotide encoding target is San Diego, CA 92121 (US) provided in a cell under control of an inducible promoter, and candidate modulatory molecules are contacted with the (21) Appl. No.: 09/965,201 cell after induction of the promoter to ascertain whether a change in a measurable physiological parameter occurs as a (22) Filed: Sep. 25, 2001 result of the candidate modulatory molecule. Patent Application Publication May 1, 2003 Sheet 1 of 8 US 2003/0082511 A1 KCNC1 cDNA F.G. 1 Patent Application Publication May 1, 2003 Sheet 2 of 8 US 2003/0082511 A1 49 - -9 G C EH H EH N t R M h so as se W M M MP N FIG.2 Patent Application Publication May 1, 2003 Sheet 3 of 8 US 2003/0082511 A1 FG. 3 Patent Application Publication May 1, 2003 Sheet 4 of 8 US 2003/0082511 A1 KCNC1 ITREXCHO KC 150 mM KC 2000000 so 100 mM induced Uninduced Steady state O 100 200 300 400 500 600 700 Time (seconds) FIG. -
Steroid Sulfatase Stimulates Intracrine Androgen Synthesis and Is a Therapeutic Target for Advanced Prostate Cancer
Author Manuscript Published OnlineFirst on September 14, 2020; DOI: 10.1158/1078-0432.CCR-20-1682 Author manuscripts have been peer reviewed and accepted for publication but have not yet been edited. Steroid sulfatase stimulates intracrine androgen synthesis and is a therapeutic target for advanced prostate cancer Cameron M. Armstrong1*, Chengfei Liu1*, Liangren Liu1,2*, Joy C. Yang1, Wei Lou1, Ruining Zhao1,3, Shu Ning1, Alan P. Lombard1, Jinge Zhao1, Leandro S D'Abronzo1, Christopher P. Evans1,4, Pui-Kai Li5, Allen C. Gao1, 4, 6,7 Running title: Targeting steroid sulfatase for advanced prostate cancer Key words: Prostate cancer, steroid sulfatase, resistance, intracrine androgen synthesis, adrenal androgens 1Department of Urologic Surgery, University of California Davis, CA, USA 2Present address: Department of Urology, West China Hospital, Sichuan University, China 3Present address: Department of Urology, General Hospital of Ningxia Medical University, China 4UC Davis Comprehensive Cancer Center, University of California Davis, CA, USA 5Division of Medicinal Chemistry and Pharmacognosy, College of Pharmacy, The Ohio State University, Columbus, OH, USA 6VA Northern California Health Care System, Sacramento, CA, USA 7Corresponding author: Allen Gao, University of California Davis, 4645 2nd Avenue, Sacramento, CA 95817, USA. Phone: 916-734-8718, email: [email protected] *These authors contributed equally to the work. Conflict of interest: PKL and ACG are co-inventors of a patent application of the selected small molecule inhibitors of steroid sulfatase. 1 Downloaded from clincancerres.aacrjournals.org on October 1, 2021. © 2020 American Association for Cancer Research. Author Manuscript Published OnlineFirst on September 14, 2020; DOI: 10.1158/1078-0432.CCR-20-1682 Author manuscripts have been peer reviewed and accepted for publication but have not yet been edited.