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Molecular and Physiological Basis for Hair Loss in Near Naked Hairless and Oak Ridge Rhino-Like Mouse Models: Tracking the Role of the Hairless Gene
University of Tennessee, Knoxville TRACE: Tennessee Research and Creative Exchange Doctoral Dissertations Graduate School 5-2006 Molecular and Physiological Basis for Hair Loss in Near Naked Hairless and Oak Ridge Rhino-like Mouse Models: Tracking the Role of the Hairless Gene Yutao Liu University of Tennessee - Knoxville Follow this and additional works at: https://trace.tennessee.edu/utk_graddiss Part of the Life Sciences Commons Recommended Citation Liu, Yutao, "Molecular and Physiological Basis for Hair Loss in Near Naked Hairless and Oak Ridge Rhino- like Mouse Models: Tracking the Role of the Hairless Gene. " PhD diss., University of Tennessee, 2006. https://trace.tennessee.edu/utk_graddiss/1824 This Dissertation is brought to you for free and open access by the Graduate School at TRACE: Tennessee Research and Creative Exchange. It has been accepted for inclusion in Doctoral Dissertations by an authorized administrator of TRACE: Tennessee Research and Creative Exchange. For more information, please contact [email protected]. To the Graduate Council: I am submitting herewith a dissertation written by Yutao Liu entitled "Molecular and Physiological Basis for Hair Loss in Near Naked Hairless and Oak Ridge Rhino-like Mouse Models: Tracking the Role of the Hairless Gene." I have examined the final electronic copy of this dissertation for form and content and recommend that it be accepted in partial fulfillment of the requirements for the degree of Doctor of Philosophy, with a major in Life Sciences. Brynn H. Voy, Major Professor We have read this dissertation and recommend its acceptance: Naima Moustaid-Moussa, Yisong Wang, Rogert Hettich Accepted for the Council: Carolyn R. -
Loss-Of-Function Mutations in the Gene Encoding Filaggrin Cause Ichthyosis
LETTERS Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris Frances J D Smith1, Alan D Irvine2, Ana Terron-Kwiatkowski1, Aileen Sandilands1, Linda E Campbell1, Yiwei Zhao1, Haihui Liao1, Alan T Evans3, David R Goudie4, Sue Lewis-Jones5, Gehan Arseculeratne5, Colin S Munro6, Ann Sergeant6, Gra´inne O’Regan2, Sherri J Bale7, John G Compton7, John J DiGiovanna8,9, Richard B Presland10,11, Philip Fleckman11 & W H Irwin McLean1 Ichthyosis vulgaris (OMIM 146700) is the most common composed of the 400-kDa protein profilaggrin. Following a short, inherited disorder of keratinization and one of the most unique N-terminal domain, most of the profilaggrin molecule consists frequent single-gene disorders in humans. The most widely of 10–12 repeats of the 324-residue filaggrin sequence6. Upon terminal cited incidence figure is 1 in 250 based on a survey of differentiation of granular cells, profilaggrin is proteolytically cleaved 1 B http://www.nature.com/naturegenetics 6,051 healthy English schoolchildren . We have identified into 37-kDa filaggrin peptides and the N-terminal domain contain- homozygous or compound heterozygous mutations R501X and ing an S100-like calcium binding domain. Filaggrin rapidly aggregates 2282del4 in the gene encoding filaggrin (FLG) as the cause of the keratin cytoskeleton, causing collapse of the granular cells into moderate or severe ichthyosis vulgaris in 15 kindreds. In flattened anuclear squames. This condensed cytoskeleton is cross- addition, these mutations are semidominant; heterozygotes linked by transglutaminases during formation of the cornified cell show a very mild phenotype with incomplete penetrance. envelope (CCE). The CCE is the outermost barrier layer of the skin The mutations show a combined allele frequency of B4% which not only prevents water loss but also impedes the entry of in populations of European ancestry, explaining the high allergens and infectious agents7. -
Genetic Basis of Simple and Complex Traits with Relevance to Avian Evolution
Genetic basis of simple and complex traits with relevance to avian evolution Małgorzata Anna Gazda Doctoral Program in Biodiversity, Genetics and Evolution D Faculdade de Ciências da Universidade do Porto 2019 Supervisor Miguel Jorge Pinto Carneiro, Auxiliary Researcher, CIBIO/InBIO, Laboratório Associado, Universidade do Porto Co-supervisor Ricardo Lopes, CIBIO/InBIO Leif Andersson, Uppsala University FCUP Genetic basis of avian traits Nota Previa Na elaboração desta tese, e nos termos do número 2 do Artigo 4º do Regulamento Geral dos Terceiros Ciclos de Estudos da Universidade do Porto e do Artigo 31º do D.L.74/2006, de 24 de Março, com a nova redação introduzida pelo D.L. 230/2009, de 14 de Setembro, foi efetuado o aproveitamento total de um conjunto coerente de trabalhos de investigação já publicados ou submetidos para publicação em revistas internacionais indexadas e com arbitragem científica, os quais integram alguns dos capítulos da presente tese. Tendo em conta que os referidos trabalhos foram realizados com a colaboração de outros autores, o candidato esclarece que, em todos eles, participou ativamente na sua conceção, na obtenção, análise e discussão de resultados, bem como na elaboração da sua forma publicada. Este trabalho foi apoiado pela Fundação para a Ciência e Tecnologia (FCT) através da atribuição de uma bolsa de doutoramento (PD/BD/114042/2015) no âmbito do programa doutoral em Biodiversidade, Genética e Evolução (BIODIV). 2 FCUP Genetic basis of avian traits Acknowledgements Firstly, I would like to thank to my all supervisors Miguel Carneiro, Ricardo Lopes and Leif Andersson, for the demanding task of supervising myself last four years. -
Elevated Levels of the Steroidogenic Factor 1 Are Associated with Over
European Journal of Endocrinology (2012) 166 941–949 ISSN 0804-4643 CASE REPORT Elevated levels of the steroidogenic factor 1 are associated with over-expression of CYP19 in an oestrogen-producing testicular Leydig cell tumour Anne Hege Straume1,2, Kristian Løva˚s3,4, Hrvoje Miletic5,6, Karsten Gravdal5, Per Eystein Lønning1,2 and Stian Knappskog1,2 1Section of Oncology, Institute of Medicine, University of Bergen, Bergen, Norway, 2Department of Oncology, Haukeland University Hospital, Bergen, Norway, 3Section of Endocrinology, Institute of Medicine, University of Bergen, Bergen, Norway, 4Department of Medicine and 5Section of Pathology, Haukeland University Hospital, Bergen, Norway and 6Department of Biomedicine, University of Bergen, Bergen, Norway (Correspondence should be addressed to S Knappskog who is now at Mohn Cancer Research Laboratory (1M), Haukeland University Hospital, 5021 Bergen, Norway; Email: [email protected]) Abstract Background and objectives: Testicular Leydig cell tumours (LCTs) are rare, steroid-secreting tumours. Elevated levels of aromatase (CYP19 or CYP19A1) mRNA have been previously described in LCTs; however, little is known about the mechanism(s) causing CYP19 over-expression. We report an LCT in a 29-year-old male with elevated plasma oestradiol caused by enhanced CYP19 transcription. Design and methods: First, we measured the intra-tumour expression of CYP19 and determined the use of CYP19 promoters by qPCR. Secondly, we explored CYP19 and promoter II (PII) for gene amplifications and activating mutations in PII by sequencing. Thirdly, we analysed intra-tumour expression of steroidogenic factor 1 (SF-1 (NR5A1)), liver receptor homologue-1 (LRH-1 (NR5A2)) and cyclooxygenase-2 (COX2 (PTGS2)). Finally, we analysed SF-1 for promoter mutations and gene amplifications. -
Placenta, Chorioallantois
WSC 2009-2010, Conference 20, Case 1. Tissue from a horse. MICROSCOPIC DESCRIPTION: Placenta, chorioallantois (allantochorion): There is diffuse coagulative necrosis (2pt.) of the chorionic villi, with retention of villar outlines and a distinct lack of differential staining. Multifocally, the deepest parts of the chorionic villi exhibit necrosis and sloughing of epithelium, infiltration of moderate numbers of neutrophils (1 pt.) and rare macrophages, which are admixed with eosinophilic cellular and karyorrhectic/necrotic debris, fibrin (1 pt.), hemorrhage (1 pt.), and mineral. Villar capillaries are dilated, congested, and contain moderate numbers of neutrophils. (1 pt.) Throughout the necrotic villi, there are outlines of 3-6 um wide, fungal hyphae (2 pt.) which are rarely pigmented brown. The chorioallantoic stroma is diffusely and moderately edematous. (1 pt.) There are large numbers of viable and degenerate neutrophils, primarily within the superficial chorioallantoic stroma, admixed with edema and cellular debris. (1 pt.) Vessels within chorioallantoic stroma often contain fibrin thrombi (2 pt.), and occasional veins contain small numbers of neutrophils, necrotic cellular debris, and small amounts of a brightly eosinophilic material (exuded protein), within the wall (vasculitis) (1 pt.). The allantoic epithelium is diffusely hypertrophic. (1 pt.) MICROSCOPIC DIAGNOSIS: Placenta, chorioallantois (allantochorion): Placentitis , necrotizing, diffuse, severe, with fibrin thrombi and numerous fungal hyphae. (4 pt.) O/C: (1 pt.) Most likely cause: Aspergillus fumigatus (1 pt.) but in this case only Bipolaris was isolated (may have overgrown the original pathogen) WSC 2009-2010. Conference 20, Case 2 Tissue from a horse. MICROSCOPIC DESCRIPTION: Testis (1 pt.): Expanding the testis and compressing the adjacent atrophic testicular tissue is a well-demarcated, unencapsulated, expansile, variably cellular, nodular neoplasm (2 pt.) composed of tissue types from all three germ cell lines (1 pt.). -
Urinary Tract Cytology
Cytology Training Program Urinary Tract Cytology By: Mr. Lin Wai Fung (MSc, MPH, CMIAC) http://137.189.150.85/cytopathology/CytoTraining/Timetable.html Photomicrograph: http://137.189.150.85/cytopathology/Slide/Cytotraining_urine.asp Specimen Types • Voided urine i. Low cellularity in male ii. Increase epithelial cells in female (Contamination from genital tract) iii. Exfoliated cells lying in urine for several hours are usually too degenerate for accurate evaluation (early morning urine not suitable for diagnosis) iv. Fresh specimens: process quickly v. Delayed specimens: equal vol. of 50% alcohol and refrigerated • Catheterized specimens i. Patient feel discomfort during collecting ii. Contamination for genital tract is avoided iii. Disadvantage: mimic low grade papillary carcinoma • Ileal conduit i. Total cysterectomy ii. Anatomosis of ureters to an ileal loop →skin of abdomen →ostomy bag iii. Cellular, degeneration, intestine cells (round / columnar, rare well preserved) • Bladder washing i. Irrigating bladder with saline or an electrolytic solution ii. Better yield iii. Relatively rare in PWH 1 Cytology Training Program Normal Cytology • Scanty cellularity in voided urine: few epithelial cells / urothelial cells / polymorph • Epithelial cells contaminated from genital tract • Umbrella cells (Superficial urothelial cells) ◊ Binucleated or multinucleated ◊ Hyaline or vacuolated cytoplasm ◊ Size larger than deeper layer cells • Deeper layer urothelial cells ◊ Cuboidal / columnar / ◊ Degneration: vacuolation, red intra-cytoplasmic inclusion -
Deimination, Intermediate Filaments and Associated Proteins
International Journal of Molecular Sciences Review Deimination, Intermediate Filaments and Associated Proteins Julie Briot, Michel Simon and Marie-Claire Méchin * UDEAR, Institut National de la Santé Et de la Recherche Médicale, Université Toulouse III Paul Sabatier, Université Fédérale de Toulouse Midi-Pyrénées, U1056, 31059 Toulouse, France; [email protected] (J.B.); [email protected] (M.S.) * Correspondence: [email protected]; Tel.: +33-5-6115-8425 Received: 27 October 2020; Accepted: 16 November 2020; Published: 19 November 2020 Abstract: Deimination (or citrullination) is a post-translational modification catalyzed by a calcium-dependent enzyme family of five peptidylarginine deiminases (PADs). Deimination is involved in physiological processes (cell differentiation, embryogenesis, innate and adaptive immunity, etc.) and in autoimmune diseases (rheumatoid arthritis, multiple sclerosis and lupus), cancers and neurodegenerative diseases. Intermediate filaments (IF) and associated proteins (IFAP) are major substrates of PADs. Here, we focus on the effects of deimination on the polymerization and solubility properties of IF proteins and on the proteolysis and cross-linking of IFAP, to finally expose some features of interest and some limitations of citrullinomes. Keywords: citrullination; post-translational modification; cytoskeleton; keratin; filaggrin; peptidylarginine deiminase 1. Introduction Intermediate filaments (IF) constitute a unique macromolecular structure with a diameter (10 nm) intermediate between those of actin microfilaments (6 nm) and microtubules (25 nm). In humans, IF are found in all cell types and organize themselves into a complex network. They play an important role in the morphology of a cell (including the nucleus), are essential to its plasticity, its mobility, its adhesion and thus to its function. -
Adrenal Tumors and Other Pathological Changes in Reciprocal Crosses in Mice II
Adrenal Tumors and Other Pathological Changes in Reciprocal Crosses in Mice II. An Introduction to Results of Four @eciprocai• 11' @rosses* G. W. WOOLLEY,tM.M. DICKIE,ANDC. C. LITTLE (Roscoe B. Jackson Memorial Laboratory, Bar Harbor, Maine) This report is to serve as an introduction to hy brief review of a few of the characteristics of the bridization studies which have been undertaken inbred strains used as parental strains in these re concerning adrenal cortical tumors and related ciprocal crosses may help to evaluate the results pathological conditions. It is planned that reports obtained in this now extensive pilot experiment. similar to that for the reciprocal DBA and CE hy It has been customary to characterize inbred brids (27) will also be made. strains according to certain factors, e.g. , mammary Hybridization studies have been used in many tumor incidence, susceptibility or resistance to the types of experiments with animals and with plants. mammary tumor inciter (MTI), response to Such experiments were of the type Mendel used gonadectomy, and incidence of various other types and on which he based his principles of unit inher of tumors. Some of these characteristics will be itance. Hybridization experiments with animals briefly considered, where possible, for the inbred can be used not only to determine chromosomal in parental strains used. (a) Strain DBA has a mod heritance, but also for purposes of evaluating other erate mammary tumor incidence ; following gon types of influences on the offspring, e.g., maternal adectomy, nodular hyperplasia of the adrenal cor influence influential in breast tumor occurrence in tex develops, and the accessory reproductive or mice. -
BIMJ April 2013
Original Article Brunei Int Med J. 2013; 9 (5): 290-301 Yellow lesions of the oral cavity: diagnostic appraisal and management strategies Faraz MOHAMMED 1, Arishiya THAPASUM 2, Shamaz MOHAMED 3, Halima SHAMAZ 4, Ramesh KUMARASAN 5 1 Department of Oral & Maxillofacial Pathology, Dr Syamala Reddy Dental College Hospital & Research Centre, Bangalore, India 2 Department of Oral Medicine & Radiology, Dr Syamala Reddy Dental College Hospital & Research Centre, Bangalore, India 3 Department of Community & Public Health Dentistry, Faculty of Dentistry, Amrita University, Cochin, India 4 Amrita center of Nanosciences, Amrita University, Cochin, India 5 Oral and Maxillofacial Surgery, Faculty of Dentistry, AIMST University, Kedah, Malaysia ABSTRACT Yellow lesions of the oral cavity constitute a rather common group of lesions that are encountered during routine clinical dental practice. The process of clinical diagnosis and treatment planning is of great concern to the patient as it determines the nature of future follow up care. There is a strong need for a rational and functional classification which will enable better understanding of the basic disease process, as well as in formulating a differential diagnosis. Clinical diagnostic skills and good judgment forms the key to successful management of yellow lesions of the oral cavity. Keywords: Yellow lesions, oral cavity, diagnosis, management INTRODUCTION INTRODUCTI Changes in colour have been traditionally low lesions have a varied prognostic spec- used to register and classify mucosal and soft trum. The yellowish colouration may be tissue pathology of the oral cavity. Thus, the- caused by lipofuscin (the pigment of fat). It se lesions have been categorised as white, may also be the result of other causes such red, white and red, blue and/or purple, as accumulation of pus, aggregation of lym- brown, grey and/or black and yellow. -
Identification of Trichoplein, a Novel Keratin Filament- Binding Protein
Research Article 1081 Identification of trichoplein, a novel keratin filament- binding protein Miwako Nishizawa1,*, Ichiro Izawa1,*, Akihito Inoko1,*, Yuko Hayashi1, Koh-ichi Nagata1, Tomoya Yokoyama1,2, Jiro Usukura3 and Masaki Inagaki1,‡ 1Division of Biochemistry, Aichi Cancer Center Research Institute, 1-1 Kanokoden, Chikusa-ku, Nagoya 464-8681, Japan 2Department of Dermatology, Mie University Faculty of Medicine, 2-174 Edobashi, Tsu 514-8507, Japan 3Department of Anatomy and Cell Biology, Nagoya University School of Medicine, 65 Tsurumai, Showa-ku, Nagoya 466-8550, Japan *These authors contributed equally to this work ‡Author for correspondence (e-mail: [email protected]) Accepted 29 November 2004 Journal of Cell Science 118, 1081-1090 Published by The Company of Biologists 2005 doi:10.1242/jcs.01667 Summary Keratins 8 and 18 (K8/18) are major components of the antibody in a complex with K8/18 and immunostaining intermediate filaments (IFs) of simple epithelia. We report revealed that trichoplein colocalized with K8/18 filaments here the identification of a novel protein termed in HeLa cells. In polarized Caco-2 cells, trichoplein trichoplein. This protein shows a low degree of sequence colocalized not only with K8/18 filaments in the apical similarity to trichohyalin, plectin and myosin heavy chain, region but also with desmoplakin, a constituent of and is a K8/18-binding protein. Among interactions desmosomes. In the absorptive cells of the small intestine, between trichoplein and various IF proteins that we trichoplein colocalized with K8/18 filaments at the apical tested using two-hybrid methods, trichoplein interacted cortical region, and was also concentrated at desmosomes. -
Keratinization and Its Disorders
Oman Medical Journal (2012) Vol. 27, No. 5: 348-357 DOI 10. 5001/omj.2012.90 Review Article Keratinization and its Disorders Shibani Shetty, Gokul S. Received: 03 May 2012 / Accepted: 08 July 2012 © OMSB, 2012 Abstract Keratins are a diverse group of structural proteins that form the epithelium (buccal mucosa, labial mucosa) and specialized intermediate filament network responsible for maintaining the mucosa (dorsal surface of the tongue).2 An important aspect structural integrity of keratinocytes. In humans, there are around of stratified squamous epithelia is that the cells undergo a 30 keratin families divided into two groups, namely, acidic and terminal differentiation program that results in the formation basic keratins, which are arranged in pairs. They are expressed in of a mechanically resistant and toughened surface composed of a highly specific pattern related to the epithelial type and stage of cornified cells that are filled with keratin filaments and lack nuclei cellular differentiation. A total of 54 functional genes exist which and cytoplasmic organelles. In these squames, the cell membrane codes for these keratin families. The expression of specific keratin is replaced by a proteinaceous cornified envelope that is covalently genes is regulated by the differentiation of epithelial cells within cross linked to the keratin filaments, providing a highly insoluble the stratifying squamous epithelium. Mutations in most of these yet flexible structure that protects the underlying epithelial cells.1 genes are now associated with specific tissue fragility disorders Keratinization, also termed as cornification, is a process which may manifest both in skin and mucosa depending on the of cytodifferentiation which the keratinocytes undergo when expression pattern. -
176 Liver Biopsy Evaluation: a Novel Approach to Arriving at Differential Diagnosis
176 Liver Biopsy Evaluation: A Novel Approach To Arriving at Differential Diagnosis Gary Kanel MD 2011 Annual Meeting – Las Vegas, NV AMERICAN SOCIETY FOR CLINICAL PATHOLOGY 33 W. Monroe, Ste. 1600 Chicago, IL 60603 176 Liver Biopsy Evaluation: A Novel Approach To Arriving at Differential Diagnosis Liver biopsies show various histologic features that most often involve both the portal tracts and parenchyma. The pathologist, for instance, may see a liver biopsy demonstrating portal lymphocytic infiltrates, atypical bile ducts, mild lobular inflammation, and mild fatty change. Many liver diseases can show these individual features, yet only a few show most or all of the features together. This session will discuss the most common liver histology in table format and how the information acquired from these tables can be used in arriving at differential diagnoses. The session will also show the attendees how pertinent clinical and laboratory correlation can help arrive at the most probable diagnosis. A general review of liver pathology highlighting these pertinent histologic features will be presented. • Identify the various morphologic features in the portal tracts and parenchyma seen in liver biopsy material • Arrive at likely diagnoses and differential possibilities using access to specific tables that list the various liver diseases that show these individual features • Assess the pertinent clinical and laboratory data to arrive at a most probable clinical-pathologic diagnosis FACULTY: Gary Kanel MD Practicing Pathologists Surgical Pathology Surgical Pathology (GI, GU, Etc.) 2.0 CME/CMLE Credits Accreditation Statement: The American Society for Clinical Pathology (ASCP) is accredited by the Accreditation Council for Continuing Medical Education to provide continuing medical education (CME) for physicians.