Read by QxMD icon Read

Skin genomics

Abraham Alabi, Theckla Kazimoto, Marthe Lebughe, Delfino Vubil, Patrick Phaku, Inacio Mandomando, Winfried V Kern, Salim Abdulla, Alexander Mellmann, Lena Peitzmann, Markus Bischoff, Georg Peters, Mathias Herrmann, Martin P Grobusch, Frieder Schaumburg, Siegbert Rieg
PURPOSE: The incidence of Staphylococcus aureus skin and soft tissue infection (SSTI) is high in sub-Saharan Africa. This is fueled by a high prevalence of Panton-Valentine leukocidin (PVL), which can be associated with necrotizing disease. The aim was to describe the clinical presentation and the treatment of SSTI in the African setting and to identify challenges in the management. METHODS: Patients (n = 319) were recruited in DR Congo (n = 56, 17.6%), Gabon (n = 89, 27...
April 17, 2018: Infection
Rahul Sharma, Pushpendra Singh, Maria Pena, Ramesh Subramanian, Vladmir Chouljenko, Joohyun Kim, Nayong Kim, John Caskey, Marie A Baudena, Linda B Adams, Richard W Truman
Leprosy (Hansen's Disease) has occurred throughout human history, and persists today at a low prevalence in most populations. Caused by Mycobacterium leprae, the infection primarily involves the skin, mucosa and peripheral nerves. The susceptible host range for Mycobacterium leprae is quite narrow. Besides humans, nine banded armadillos (Dasypus novemcinctus) and red squirrels (Sciurus vulgaris) are the only other natural hosts for M. leprae, but only armadillos recapitulate the disease as seen in humans. Armadillos across the Southern United States harbor a single predominant genotypic strain (SNP Type-3I) of M...
April 14, 2018: Infection, Genetics and Evolution
Dario Zimmerli, Virginia Cecconi, Tomas Valenta, George Hausmann, Claudio Cantù, Gaetana Restivo, Jürg Hafner, Konrad Basler, Maries van den Broek
Human papillomavirus (HPV)-driven cutaneous squamous cell carcinoma (cSCC) is the most common cancer in immunosuppressed patients. Despite indications suggesting that HPV promotes genomic instability during cSCC development, the molecular pathways underpinning HPV-driven cSCC development remain unknown. We compared the transcriptome of HPV-driven mouse cSCC with normal skin and observed higher amounts of transcripts for Porcupine and WNT ligands in cSCC, suggesting a role for WNT signaling in cSCC progression...
April 17, 2018: Oncogene
Bruna Parreira, João C R Cardoso, Rita Costa, Ana Rita Couto, Jácome Bruges-Armas, Deborah M Power
The ATP-binding cassette transporter 6 (ABCC6) gene encodes a cellular transmembrane protein transporter (MRP6) that is involved in the regulation of tissue calcification in mammals. Mutations in ABCC6 are associated with human ectopic calcification disorders. To gain insight into its evolution and involvement in tissue calcification we conducted a comparative analysis of the ABCC6 gene and the related gene ABCC1 from invertebrates to vertebrates where a bony endoskeleton first evolved. Taking into consideration the role of ABCC6 in ectopic calcification of human skin we analysed the involvement of both genes in the regeneration of scales, mineralized structures that develop in fish skin...
April 16, 2018: Scientific Reports
Wan Sun, Yanjie Shen, Shan Shan, Liyun Han, Yang Li, Zheng Zhou, Zilin Zhong, Jianjun Chen
Oculocutaneous albinism (OCA) is a set of autosomal recessive disorders characterized by hypopigmented hair, skin and eyes. Homozygous or compound heterozygous mutations in the tyrosinase (TYR) gene can cause OCA1, which is the most common and severe subtype of albinism. In the present study, 17 patients with non‑syndromic OCA were enrolled from eight provinces of China and were non‑consanguineous, with the exception of Patient 4000301. Total genomic DNA was isolated from peripheral blood. Screening was performed for the whole exons and their flanking regions of the TYR gene using Sanger sequencing and the pathogenicity of variants was predicted using in silico analysis...
April 13, 2018: Molecular Medicine Reports
Audrey Rutherford, Donald A Glass Ii, Nnenna G Agim
Waardenburg Syndrome (WS) is a condition characterized by pigmentary changes of the hair or skin, hearing loss, heterochromia iridis, and dystopia canthorum. There are four main types of WS, which can be commonly caused by mutations in the PAX3, MITF, EDNRB, EDN3, SNAI2, or SOX10 genes. Herein, we present a patient with Waardenburg Syndrome type 2 with no findings of mutations in the commonly associated genes.
February 15, 2018: Dermatology Online Journal
Subir Sarker, Sally R Isberg, Natalie L Milic, Peter Lock, Karla J Helbig
Crocodilepox virus is a large dsDNA virus belonging to the genus Crocodylidpoxvirus, which infects a wide range of host species in the order Crocodylia worldwide. Here, we present genome sequences for a novel saltwater crocodilepox virus, with two subtypes (SwCRV-1 and -2), isolated from the Australian saltwater crocodile. Affected belly skins of juvenile saltwater crocodiles were used to sequence complete viral genomes, and perform electron microscopic analysis that visualized immature and mature virions. Analysis of the SwCRV genomes showed a high degree of sequence similarity to CRV (84...
April 4, 2018: Scientific Reports
Yang Cui, Hailong Yan, Ke Wang, Han Xu, Xuelian Zhang, Haijing Zhu, Jinwang Liu, Lei Qu, Xianyong Lan, Chuanying Pan
A previous whole-genome association analysis identified lysine demethylase 6A ( KDM6A ), which encodes a type of histone demethylase, as a candidate gene associated to goat fecundity. KDM6A gene knockout mouse disrupts gametophyte development, suggesting that it has a critical role in reproduction. In this study, goat KDM6A mRNA expression profiles were determined, insertion/deletion (indel) variants in the gene identified, indel variants effect on KDM6A gene expression assessed, and their association with first-born litter size analyzed in 2326 healthy female Shaanbei white cashmere goats...
2018: Frontiers in Genetics
Andie S Lee, Elizabeth White, Leigh G Monahan, Slade O Jensen, Raymond Chan, Sebastiaan J van Hal
OBJECTIVETo describe the transmission dynamics of the emergence and persistence of vanA vancomycin-resistant enterococcus (VRE) in an intensive care unit (ICU) using whole-genome sequencing of patient and environmental isolates.DESIGNRetrospective cohort study.SETTINGICU in a tertiary referral center.PARTICIPANTSPatients admitted to the ICU over an 11-month period.METHODS VanA VRE isolated from patients (n=31) were sequenced using the Illumina MiSeq platform. Environmental samples from bed spaces, equipment, and waste rooms were collected...
April 3, 2018: Infection Control and Hospital Epidemiology
Jun Wang, Liang Chen, Na Zhao, Xizhan Xu, Yakun Xu, Baoli Zhu
Microbiome research is a quickly developing field in biomedical research, and we have witnessed its potential in understanding the physiology, metabolism and immunology, its critical role in understanding the health and disease of the host, and its vast capacity in disease prediction, intervention and treatment. However, many of the fundamental questions still need to be addressed, including the shaping forces of microbial diversity between individuals and across time. Microbiome research falls into the classical nature vs...
April 2, 2018: Protein & Cell
Tesfaye Rufael Chibssa, Reingard Grabherr, Angelika Loitsch, Tirumala Bharani K Settypalli, Eeva Tuppurainen, Nick Nwankpa, Karim Tounkara, Hafsa Madani, Amel Omani, Mariane Diop, Giovanni Cattoli, Adama Diallo, Charles Euloge Lamien
BACKGROUND: Sheeppox (SPP) and goatpox (GTP) caused by sheeppox virus (SPPV) and goatpox virus (GTPV), respectively of the genus Capripoxvirus in the family Poxviridae, are severely afflicting small ruminants' production systems in Africa and Asia. In endemic areas, SPP and GTP are controlled using vaccination with live attenuated vaccines derived from SPPV, GTPV or Lumpy skin disease virus (LSDV). Sometimes outbreaks occur following vaccination. In order to successfully control the spread of the virus, it is essential to identify whether the animals were infected by the field strain and the vaccine did not provide sufficient protection...
April 2, 2018: Virology Journal
Rafael Silva Gama, Thalisson Artur Ribeiro Gomides, Chaiana Fróes Magalhães Gama, Suelen Justo Maria Moreira, Fernanda Saloum de Neves Manta, Lorena Bruna P de Oliveira, Pedro Henrique Ferreira Marçal, Euzenir Nunes Sarno, Milton Ozório Moraes, Raúl Marcel González Garcia, Lucia Alves de Oliveira Fraga
BACKGROUND: Characterization of the Mycobacterium leprae genome has made possible the development of Polymerase Chain Reaction (PCR) systems that can amplify different genomic regions. Increased reliability and technical efficiency of quantitative PCR (qPCR) makes it a promising tool for early diagnosis of leprosy. Index cases that are multibacillary spread the bacillus silently, even before they are clinically diagnosed. Early detection and treatment could prevent transmission in endemic areas...
April 2, 2018: BMC Infectious Diseases
Mitsukuni Suenaga, Marta Schirripa, Shu Cao, Wu Zhang, Dongyun Yang, Yan Ning, Chiara Cremolini, Carlotta Antoniotti, Beatrice Borelli, Tetsuo Mashima, Satoshi Okazaki, Martin D Berger, Yuji Miyamoto, Roel Gopez, Afsaneh Barzi, Sara Lonardi, Toshiharu Yamaguchi, Alfredo Falcone, Fotios Loupakis, Heinz-Josef Lenz
BACKGROUND: The C-C motif chemokine ligand 5/C-C motif chemokine receptor 5 (CCL5/CCR5) pathway has been shown to induce endothelial progenitor cell migration, resulting in increased vascular endothelial growth factor A expression. We hypothesized that genetic polymorphisms in the CCL5/CCR5 pathway predict efficacy and toxicity in patients with metastatic colorectal cancer (mCRC) treated with regorafenib. PATIENTS AND METHODS: We analyzed genomic DNA extracted from 229 tumor samples from 2 different cohorts of patients who received regorafenib: an evaluation cohort of 79 Japanese patients and a validation cohort of 150 Italian patients...
February 27, 2018: Clinical Colorectal Cancer
C Daudt, F R C Da Silva, M Lunardi, C B D T Alves, M N Weber, S P Cibulski, A F Alfieri, A A Alfieri, C W Canal
Papillomaviruses (PVs) are complex viruses which infect the skin or mucosae of a broad range of amniotes worldwide. They cause benign or malignant lesions depending on environmental factors, virus oncogenicity and the location of infection. Bovine papillomaviruses (BPVs) are the second most studied PVs beyond human PVs. In the past few years, genetic characterization of animal PVs has increased due to the availability of new techniques, which simplified the sequencing of entire genomes. Therefore, this review aims to provide an update of the current epidemiology, classification and genome features of ruminant PVs (mainly BPVs) affecting animals worldwide...
March 30, 2018: Transboundary and Emerging Diseases
Matthias Steinrücken, Jeffrey P Spence, John A Kamm, Emilia Wieczorek, Yun S Song
Genetic evidence has revealed that the ancestors of modern human populations outside Africa and their hominin sister groups, notably Neanderthals, exchanged genetic material in the past. The distribution of these introgressed sequence-tracts along modern-day human genomes provides insight into the selective forces acting on them and the role of introgression in the evolutionary history of hominins.Studying introgression patterns on the X-chromosome is of particular interest, as sex chromosomes are thought to play a special role in speciation...
March 30, 2018: Molecular Ecology
Karlos Z Oregel, Geoffrey P Shouse, Cyrus Oster, Freddy Martinez, Jun Wang, Michael Rosenzweig, Jeremy K Deisch, Chien-Shing Chen, Gayathri Nagaraj
BACKGROUND Gelsolin amyloidosis is a very rare systemic disease presenting with a pathognomonic triad of corneal lattice dystrophy, cutis laxa, and polyneuropathy. The disease is mostly restricted to a Finnish population with known mutations (G654A, G654T) in exon 4 of the gelsolin gene. The mutations lead to errors in protein processing and folding, and ultimately leads to deposition of an amyloidogenic fragment in the extracellular space, causing the symptoms of disease. CASE REPORT We present a case of gelsolin amyloidosis in a male of African descent with an atypical clinical presentation including fevers, skin rash, polyneuropathy, and anemia...
March 30, 2018: American Journal of Case Reports
Vered Domankevich, Hossam Eddini, Amani Odeh, Imad Shams
The blind mole rat, Spalax , is the only mammalian species, to date, for which spontaneous cancer was never reported and resistance to carcinogens- induced cancers was demonstrated. However, the underlying mechanisms are still poorly understood. The fact that Spalax is also a hypoxia-tolerant and a long-lived species implies for molecular adaptations to prevent genomic instability, which underlies both cancer and aging. We previously demonstrated the up-regulation of transcripts related to DNA replication and repair pathways in Spalax Yet, to date, no direct experimental evidence for improved genomic maintenance was demonstrated for this species...
March 28, 2018: Journal of Experimental Biology
Giulia Bedendo, Valentina Panzarin, Andrea Fortin, Gianpiero Zamperin, Tobia Pretto, Alessandra Buratin, Rosita Quartesan, Matteo Sabbion, Cristian Salogni, Francesco Pascoli, Anna Toffan
This study fully describes a severe disease outbreak occurred in 2016 in black bullhead catfish farmed in Italy. Affected fish showed nervous clinical signs as well as emaciations and haemorrhagic petechiae on the skin at the fin bases, abdomen and gills. Viral isolation in cell culture allowed the subsequent identification of a rhabdovirus, tentatively named ictalurid rhabdovirus (IcRV), through electron microscopy, immunofluorescence and whole genome sequencing (WGS). The newly isolated virus, together with 14 additional viral strains stored in our repository and detected during similar mortality episodes in the period 1993-2016, was phylogenetically analysed on the basis of the nucleoprotein and the glycoprotein nucleotide and amino acid sequences...
March 23, 2018: Journal of Fish Diseases
Yuko Watanabe, Eri Furukawa, Hideki Tatsukawa, Hisashi Hashimoto, Yasuhiro Kamei, Yoshihito Taniguchi, Kiyotaka Hitomi
Transglutaminase (TG) is an essential enzyme to catalyze cross-linking reactions of epidermal proteins. Recently, we biochemically characterized human skin TG orthologues for medaka (Oryzias latipes), a model fish. By genome editing, gene-modified fishes for the two orthologues were obtained, both of which lack the ordinal enzymes. These fish appeared to exhibit higher susceptibility to osmolality at the period of larvae.
March 23, 2018: Bioscience, Biotechnology, and Biochemistry
Ambreen Ijaz, Sulman Basit, Ajab Gul, Lilas Batool, Abrar Hussain, Sibtain Afzal, Khushnooda Ramzan, Jamil Ahmad, Abdul Wali
Xeroderma Pigmentosum (XP) is a rare autosomal recessive skin disorder characterized by hyperpigmentation, premature skin aging, ocular and cutaneous photosensitivity and increased risk of skin carcinoma. We investigated seven consanguineous XP families with nine patients from Pakistan. All the Patients exhibited typical clinical symptoms of XP since first year of life. Whole genome SNP genotyping identified a 14Mb autozygous region segregating with the disease phenotype on chromosome 3p25.1. DNA sequencing of XPC gene revealed a founder homozygous splice site mutation (c...
March 23, 2018: Congenital Anomalies
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"