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https://www.readbyqxmd.com/read/29018889/-oculocutaneous-and-ocular-albinism
#1
REVIEW
A S Kubasch, M Meurer
Albinism can be divided into oculocutaneous albinism (OCA) and ocular albinism (OA). In the differential diagnostics these can be distinguished from rarer syndromes with partial albinism, which are frequently associated with susceptibility to infections and neurological symptoms. The OCA is an autosomal recessive inherited disease of melanin biosynthesis, which leads to complete or partial loss of melanin in the skin, hair follicles and eyes. Of the seven currently known subtypes (OCA 1-7), four are well-characterized (OCA 1-4)...
October 10, 2017: Der Hautarzt; Zeitschrift Für Dermatologie, Venerologie, und Verwandte Gebiete
https://www.readbyqxmd.com/read/28982372/detection-of-two-non-synonymous-snps-in-slc45a2-on-bta20-as-candidate-causal-mutations-for-oculocutaneous-albinism-in-braunvieh-cattle
#2
Sophie Rothammer, Elisabeth Kunz, Doris Seichter, Stefan Krebs, Martina Wassertheurer, Ruedi Fries, Gottfried Brem, Ivica Medugorac
BACKGROUND: Cases of albinism have been reported in several species including cattle. So far, research has identified many genes that are involved in this eye-catching phenotype. Thus, when two paternal Braunvieh half-sibs with oculocutaneous albinism were detected on a private farm, we were interested in knowing whether their phenotype was caused by an already known gene/mutation. RESULTS: Analysis of genotyping data (50K) of the two albino individuals, their mothers and five other relatives identified a 47...
October 5, 2017: Genetics, Selection, Evolution: GSE
https://www.readbyqxmd.com/read/28979623/-piebaldisme-a-rare-genodermatosis
#3
Fatima Zahra Debbarh, Fatima Zahra Mernissi
Piebaldism is a rare autosomal dominant genodermatosis. It is due to congenital absence of melanocytes in the affected areas. We report a case. A 5 year old girl born to consanguineous parents and with similar cases in her mother's; she presented since birth achromic lesions on the legs with a steady evolution. clinical examination showed confluent achromic macules and poliosis (A) with no contrast enhancement under Wood lamp and several coffee-with-milk colored spots on the trunk and thighs(B). The diagnosis of piebaldism was made...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28979252/type-3-secretion-system-t3ss-of-bradyrhizobium-sp-doa9-and-its-roles-in-legume-symbiosis-and-rice-endophytic-association
#4
Pongpan Songwattana, Rujirek Noisangiam, Kamonluck Teamtisong, Janpen Prakamhang, Albin Teulet, Panlada Tittabutr, Pongdet Piromyou, Nantakorn Boonkerd, Eric Giraud, Neung Teaumroong
The Bradyrhizobium sp. DOA9 strain isolated from a paddy field has the ability to nodulate a wide spectrum of legumes. Unlike other bradyrhizobia, this strain has a symbiotic plasmid harboring nod, nif, and type 3 secretion system (T3SS) genes. This T3SS cluster contains all the genes necessary for the formation of the secretory apparatus and the transcriptional activator (TtsI), which is preceded by a nod-box motif. An in silico search predicted 14 effectors putatively translocated by this T3SS machinery. In this study, we explored the role of the T3SS in the symbiotic performance of DOA9 by evaluating the ability of a T3SS mutant (ΩrhcN) to nodulate legumes belonging to Dalbergioid, Millettioid, and Genistoid tribes...
2017: Frontiers in Microbiology
https://www.readbyqxmd.com/read/28976636/lessons-of-a-day-hospital-comprehensive-assessment-of-patients-with-albinism-in-a-european-setting
#5
Aurélie Marti, Eulalie Lasseaux, Khaled Ezzedine, Christine Léauté-Labrèze, Franck Boralevi, Clément Paya, Valentine Coste, Vincent Deroissart, Benoit Arveiler, Alain Taieb, Fanny Morice-Picard
Albinism is a rare genetic disease, comprising syndromic and non-syndromic forms. We assessed clinical and genetic characteristics in a prospective evaluation of 64 patients (33 children and 31 adults) seen at a specialized day hospital. Causative genetic mutations were found in TYR (23/64, 35.9%), OCA2 (19/64, 29.7%), TYRP1 (1/64, 1.6%), SLC45A2 (12/64, 18.7%), C10orf11 (1/64, 1.6%), HPS1 (3/64, 4.7%), HPS5 (1/64, 1.5%), HPS6 (1/64, 1.6%) and GPR143 (2/64, 3.1%). Causative mutations remained undetermined for 1 patient (1...
October 4, 2017: Pigment Cell & Melanoma Research
https://www.readbyqxmd.com/read/28974924/regulatory-pathway-analysis-of-coat-color-genes-in-mongolian-horses
#6
Bei Li, Xiaolong He, Yiping Zhao, Dongyi Bai, Wunierfu Shiraigo, Qinan Zhao, Dugarjaviin Manglai
BACKGROUND: Studies on the molecular genetics of horse skin pigmentation have typically focused on very few genes and proteins. In this study, we used Illumina sequencing to determine the global gene expression profiles in horses with white-colored coats and those with black-colored coats, with the goal of identifying novel genes that could regulate horse coat color. RESULTS: Genes encoding ribosomal-associated proteins were highly expressed in horse skin. We found a total of 231 unigenes that were differentially expressed between horses with white coats and horses with black coats; 119 were down-regulated, and 112 were up-regulated...
2018: Hereditas
https://www.readbyqxmd.com/read/28973042/oca2-splice-site-variant-in-german-spitz-dogs-with-oculocutaneous-albinism
#7
Madleina Caduff, Anina Bauer, Vidhya Jagannathan, Tosso Leeb
We investigated a German Spitz family where the mating of a black male to a white female had yielded three puppies with an unexpected light brown coat color, lightly pigmented lips and noses, and blue eyes. Combined linkage and homozygosity analysis based on a fully penetrant monogenic autosomal recessive mode of inheritance identified a critical interval of 15 Mb on chromosome 3. We obtained whole genome sequence data from one affected dog, three wolves, and 188 control dogs. Filtering for private variants revealed a single variant with predicted high impact in the critical interval in LOC100855460 (XM_005618224...
2017: PloS One
https://www.readbyqxmd.com/read/28945882/extensive-genetic-differentiation-between-homomorphic-sex-chromosomes-in-the-mosquito-vector-aedes-aegypti
#8
Albin Fontaine, Igor Filipovic, Thanyalak Fansiri, Ary A Hoffmann, Changde Cheng, Mark Kirkpatrick, Gordana Rašic, Louis Lambrechts
Mechanisms and evolutionary dynamics of sex-determination systems are of particular interest in insect vectors of human pathogens like mosquitoes because novel control strategies aim to convert pathogen-transmitting females into nonbiting males, or rely on accurate sexing for the release of sterile males. In Aedes aegypti, the main vector of dengue and Zika viruses, sex determination is governed by a dominant male-determining locus, previously thought to reside within a small, nonrecombining, sex-determining region (SDR) of an otherwise homomorphic sex chromosome...
September 1, 2017: Genome Biology and Evolution
https://www.readbyqxmd.com/read/28910827/author-response-comment-on-identification-of-novel-g-protein-coupled-receptor-143-ligands-as-pharmacologic-tools-for-investigating-x-linked-ocular-albinism
#9
Elisabetta De Filippo, Prashiela Manga, Anke C Schiedel
No abstract text is available yet for this article.
September 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28910826/comment-on-identification-of-novel-g-protein-coupled-receptor-143-ligands-as-pharmacologic-tools-for-investigating-x-linked-ocular-albinism
#10
Brian S McKay, Ronald M Lynch, W Daniel Stamer
No abstract text is available yet for this article.
September 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28892791/in-vitro-in-silico-and-in-vivo-antitumor-activity-of-crude-methanolic-extract-of-tetilla-dactyloidea-carter-1869-on-den-induced-hcc-in-a-rat-model
#11
Gowri Shankar Krishnan, Vidhya Rajagopal, Sophy Renilda Antony Joseph, Divya Sebastian, Ignacimuthu Savarimuthu, Karthick Raja Namasivayam Selvaraj, Albin Fleming Thobias
Tetilla dactyloidea (Carter, 1869) is a marine sponge classified under Demospongia and recent studies have demonstrated that active constituents of Demospongia class have exhibited several potential medical applications. However, no preliminary pharmacological studies have been reported so far. The present investigation was carried out to evaluate the zoo-chemical status, antioxidant potential and anticancer activity of Crude Methanolic Extract of Tetilla dactyloidea (CMETD). Hepatocellular Carcinoma (HCC) was induced in the liver of male Sprague Dawley (SD) rats by treating with diethylnitrosamine (DEN)...
September 8, 2017: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/28874289/clinical-predictors-of-challenging-atrioventricular-node-ablation-procedure-for-rate-control-in-patients-with-atrial-fibrillation
#12
Baptiste Polin, Nathalie Behar, Vincent Galand, Vincent Auffret, Albin Behaghel, Dominique Pavin, Jean-Claude Daubert, Philippe Mabo, Christophe Leclercq, Raphael P Martins
INTRODUCTION: Atrioventricular node (AVN) ablation is usually a simple procedure but may sometimes be challenging. We aimed at identifying pre-procedural clinical predictors of challenging AVN ablation. METHODS: Patients referred for AVN ablation from 2009 to 2015 were retrospectively included. Baseline clinical data, procedural variables and outcomes of AVN ablation were collected. A "challenging procedure" was defined 1) total radiofrequency delivery to get persistent AVN block≥400s, 2) need for left-sided arterial approach or 3) failure to obtain AVN ablation...
October 15, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28864878/self-rated-health-as-a-predictor-of-mid-term-and-long-term-mortality-in-older-afro-caribbeans-hospitalised-via-the-emergency-department
#13
Lidvine Godaert, C Godard-Sebillotte, L Allard Saint-Albin, L Bousquet, I Bourdel-Marchasson, J-L Fanon, M Dramé
PURPOSE: To determine whether self-rated health (SRH) is an independent predictor for mortality in older Afro-Caribbean patients hospitalised for an acute condition. METHODS: Prospective cohort of patients recruited from the University Hospitals of Martinique Acute Care for Elders unit. Patients aged 75 or older and hospitalised for an acute condition were eligible. The outcome was time to death within the 36-week follow-up. SRH was the explanatory variable of interest...
September 1, 2017: Quality of Life Research
https://www.readbyqxmd.com/read/28854565/the-ocular-albinism-type-1-protein-an-intracellular-g-protein-coupled-receptor-regulates-melanosome-transport-in-pigment-cells
#14
Ilaria Palmisano, Paola Bagnato, Angela Palmigiano, Giulio Innamorati, Giuseppe Rotondo, Domenico Altimare, Consuelo Venturi, Elena V Sviderskaya, Rosanna Piccirillo, Massimiliano Coppola, Valeria Marigo, Barbara Incerti, Andrea Ballabio, Enrico M Surace, Carlo Tacchetti, Dorothy C Bennett, Maria Vittoria Schiaffino
No abstract text is available yet for this article.
August 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28853188/alkyl-triarylstannanecarbodithioates-synthesis-crystal-structures-and-efficiency-in-raft-polymerization
#15
Ihor Kulai, Nathalie Saffon-Merceron, Zoia Voitenko, Stéphane Mazières, Mathias Albin Destarac
Eight alkyl triarylstannanecarbodithioates were synthesised starting from the corresponding triarylstannyl chlorides. They were fully characterised by IR and 1H, 13C and 119Sn NMR spectroscopies, and by mass spectrometry. Their solid-state structures and geometric parameters were determined and compared to those of other classes of thiocarbonylthio compounds. These new organotin derivatives are efficient reversible chain transfer agents for reversible addition-fragmentation chain transfer (RAFT) polymerization of styrene (St) and n-butyl acrylate (BA), with controlled number-average molecular weights (Mn) and narrow dispersities (Ð < 1...
August 29, 2017: Chemistry: a European Journal
https://www.readbyqxmd.com/read/28842704/early-markers-of-cardiovascular-disease-are-associated-with-occupational-exposure-to-polycyclic-aromatic-hydrocarbons
#16
Ayman Alhamdow, Christian Lindh, Maria Albin, Per Gustavsson, Håkan Tinnerberg, Karin Broberg
Occupational exposure to soot, rich in polycyclic aromatic hydrocarbons (PAH), has been associated with increased risk of cardiovascular disease (CVD). However, our knowledge about PAH exposure and early markers of CVD remains limited. In this cross-sectional study of 151 chimney sweeps and 152 controls, we investigated occupational exposure to PAH and early markers of CVD. Blood pressure (BP) (chimney sweeps only), urinary PAH metabolites and serum biomarkers were measured (C-reactive protein, homocysteine, gamma-glutamyltransferase, cholesterol, HDL, LDL, and triglycerides)...
August 25, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28839394/eyelash-trichomegaly-a-rare-presenting-feature-of-systemic-lupus-erythematosus
#17
Ashish Dalal, Sudhanshu Sharma, Ajay Kumar, Nidhi Sharma
An increase in length, curling, pigmentation, or thickness of eyelashes is termed eyelash trichomegaly. It may be inherited as an isolated trait or as a feature of a congenital syndrome such as Oliver-McFarlane syndrome or oculocutaneous albinism. Acquired conditions associated with eyelash trichomegaly include HIV infection, connective tissue disorders, and the administration of drugs such as cyclosporine and topical latanoprost. We hereby report a rare case of acquired eyelash trichomegaly with diffuse hair loss and "lupus hairs" on the scalp in a 16-year-old female diagnosed with systemic lupus erythematosus...
April 2017: International Journal of Trichology
https://www.readbyqxmd.com/read/28831430/analogs-of-human-genetic-skin-disease-in-domesticated-animals
#18
REVIEW
Justin Finch, Stephanie Abrams, Amy Finch
Genetic skin diseases encompass a vast, complex, and ever expanding field. Recognition of the features of these diseases is important to ascertain a correct diagnosis, initiate treatment, consider genetic counseling, and refer patients to specialists when the disease may impact other areas. Because genodermatoses may present with a vast array of features, it can be bewildering to memorize them. This manuscript will explain and depict some genetic skin diseases that occur in both humans and domestic animals and offer a connection and memorization aid for physicians...
September 2017: International Journal of Women's Dermatology
https://www.readbyqxmd.com/read/28829849/predictors-of-sensitivity-to-perceptual-learning-in-children-with-infantile-nystagmus
#19
Bianca Huurneman, F Nienke Boonstra, Jeroen Goossens
Purpose: To identify predictors of sensitivity to perceptual learning on a computerized, near-threshold letter discrimination task in children with infantile nystagmus (idiopathic IN: n = 18; oculocutaneous albinism accompanied by IN: n = 18). Methods: Children were divided into two age-, acuity-, and diagnosis-matched training groups: a crowded (n = 18) and an uncrowded training group (n = 18). Training consisted of 10 sessions spread out over 5 weeks (grand total of 3500 trials)...
August 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28829439/an-integrated-expression-atlas-of-mirnas-and-their-promoters-in-human-and-mouse
#20
Derek de Rie, Imad Abugessaisa, Tanvir Alam, Erik Arner, Peter Arner, Haitham Ashoor, Gaby Åström, Magda Babina, Nicolas Bertin, A Maxwell Burroughs, Ailsa J Carlisle, Carsten O Daub, Michael Detmar, Ruslan Deviatiiarov, Alexandre Fort, Claudia Gebhard, Daniel Goldowitz, Sven Guhl, Thomas J Ha, Jayson Harshbarger, Akira Hasegawa, Kosuke Hashimoto, Meenhard Herlyn, Peter Heutink, Kelly J Hitchens, Chung Chau Hon, Edward Huang, Yuri Ishizu, Chieko Kai, Takeya Kasukawa, Peter Klinken, Timo Lassmann, Charles-Henri Lecellier, Weonju Lee, Marina Lizio, Vsevolod Makeev, Anthony Mathelier, Yulia A Medvedeva, Niklas Mejhert, Christopher J Mungall, Shohei Noma, Mitsuhiro Ohshima, Mariko Okada-Hatakeyama, Helena Persson, Patrizia Rizzu, Filip Roudnicky, Pål Sætrom, Hiroki Sato, Jessica Severin, Jay W Shin, Rolf K Swoboda, Hiroshi Tarui, Hiroo Toyoda, Kristoffer Vitting-Seerup, Louise Winteringham, Yoko Yamaguchi, Kayoko Yasuzawa, Misako Yoneda, Noriko Yumoto, Susan Zabierowski, Peter G Zhang, Christine A Wells, Kim M Summers, Hideya Kawaji, Albin Sandelin, Michael Rehli, Yoshihide Hayashizaki, Piero Carninci, Alistair R R Forrest, Michiel J L de Hoon
MicroRNAs (miRNAs) are short non-coding RNAs with key roles in cellular regulation. As part of the fifth edition of the Functional Annotation of Mammalian Genome (FANTOM5) project, we created an integrated expression atlas of miRNAs and their promoters by deep-sequencing 492 short RNA (sRNA) libraries, with matching Cap Analysis Gene Expression (CAGE) data, from 396 human and 47 mouse RNA samples. Promoters were identified for 1,357 human and 804 mouse miRNAs and showed strong sequence conservation between species...
September 2017: Nature Biotechnology
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