keyword
MENU ▼
Read by QxMD icon Read
search

Skin genomics

keyword
https://www.readbyqxmd.com/read/27924449/translation-and-adaptation-of-skin-cancer-genomic-risk-education-materials-for-implementation-in-primary-care
#1
Vivian M Rodríguez, Erika Robers, Kate Zielaskowski, C Javier González, Keith Hunley, Kimberly A Kaphingst, Dolores D Guest, Andrew Sussman, Kirsten A Meyer White, Matthew R Schwartz, Jennie Greb, Yvonne Talamantes, Jessica Bigney, Marianne Berwick, Jennifer L Hay
Genomic medicine has revolutionized disease risk identification and subsequent risk reduction interventions. Skin cancer risk genomic feedback is a promising vehicle to raise awareness and protective behaviors in the general population, including Hispanics who are largely unaware of their risks. Yet, personalized genomics currently has limited reach. This study is the initial phase of a randomized controlled trial investigating the personal utility and reach of genomic testing and feedback for melanoma. Semi-structured cognitive interviews (N = 28), stratified across education level, were conducted to assess the comprehension and acceptability of translated skin cancer genomic risk education materials with Spanish-speaking Hispanic primary care patients...
December 6, 2016: Journal of Community Genetics
https://www.readbyqxmd.com/read/27919341/human-epidermal-stem-cells-role-in-adverse-skin-reactions-and-carcinogenesis-from-radiation
#2
Michèle T Martin, Adeline Vulin, Jolyon H Hendry
In human skin, keratinopoiesis is based on a functional hierarchy among keratinocytes, with rare slow-cycling stem cells responsible for the long-term maintenance of the tissue through their self-renewal potential, and more differentiated daughter progenitor cells actively cycling to permit epidermal renewal and turn-over every month. Skin is a radio-responsive tissue, developing all types of radiation damage and pathologies, including early tissue reactions such as dysplasia and denudation in epidermis, and later fibrosis in the dermis and acanthosis in epidermis, with the TGF-beta 1 pathway as a known master switch...
October 2016: Mutation Research
https://www.readbyqxmd.com/read/27918537/the-genome-and-transcriptome-of-japanese-flounder-provide-insights-into-flatfish-asymmetry
#3
Changwei Shao, Baolong Bao, Zhiyuan Xie, Xinye Chen, Bo Li, Xiaodong Jia, Qiulin Yao, Guillermo Ortí, Wenhui Li, Xihong Li, Kristin Hamre, Juan Xu, Lei Wang, Fangyuan Chen, Yongsheng Tian, Alex M Schreiber, Na Wang, Fen Wei, Jilin Zhang, Zhongdian Dong, Lei Gao, Junwei Gai, Takashi Sakamoto, Sudong Mo, Wenjun Chen, Qiong Shi, Hui Li, Yunji Xiu, Yangzhen Li, Wenteng Xu, Zhiyi Shi, Guojie Zhang, Deborah M Power, Qingyin Wang, Manfred Schartl, Songlin Chen
Flatfish have the most extreme asymmetric body morphology of vertebrates. During metamorphosis, one eye migrates to the contralateral side of the skull, and this migration is accompanied by extensive craniofacial transformations and simultaneous development of lopsided body pigmentation. The evolution of this developmental and physiological innovation remains enigmatic. Comparative genomics of two flatfish and transcriptomic analyses during metamorphosis point to a role for thyroid hormone and retinoic acid signaling, as well as phototransduction pathways...
December 5, 2016: Nature Genetics
https://www.readbyqxmd.com/read/27905875/a-nonsense-mutation-in-the-col7a1-gene-causes-epidermolysis-bullosa-in-vorderwald-cattle
#4
Hubert Pausch, Simon Ammermüller, Christine Wurmser, Henning Hamann, Jens Tetens, Cord Drögemüller, Ruedi Fries
BACKGROUND: The widespread use of individual sires for artificial insemination promotes the propagation of recessive conditions. Inadvertent matings between unnoticed carriers of deleterious alleles may result in the manifestation of fatal phenotypes in their progeny. Breeding consultants and farmers reported on Vorderwald calves with a congenital skin disease. The clinical findings in affected calves were compatible with epidermolysis bullosa. RESULTS: Pedigree analysis indicated autosomal recessive inheritance of epidermolysis bullosa in Vorderwald cattle...
December 1, 2016: BMC Genetics
https://www.readbyqxmd.com/read/27901499/genetic-characterization-of-esocid-herpesvirus-1-eshv1
#5
Jared T Freitas, Kuttichantran Subramaniam, Karen L Kelley, Susan Marcquenski, Joseph Groff, Thomas B Waltzek
Blue spot disease, believed to be caused by esocid herpesvirus 1 (EsHV1), has been observed in wild northern pike Esox lucius in a number of cold-water locations, including the northern USA, Canada, and Ireland. In the spring of 2014, a northern pike was caught in Wisconsin displaying the characteristic bluish-white circular plaques on the dorsum and fins. Microscopic examination of hematoxylin and eosin-stained sections of the proliferative cutaneous lesions revealed a focally extensive abundance of panepidermal, megalocytic keratinocytes with karyomegaly...
November 22, 2016: Diseases of Aquatic Organisms
https://www.readbyqxmd.com/read/27900536/t%C3%AE-4-overexpression-based-on-the-piggybac-transposon-system-in-cashmere-goats-alters-hair-fiber-characteristics
#6
Bingbo Shi, Qiang Ding, Xiaolin He, Haijing Zhu, Yiyuan Niu, Bei Cai, Jiao Cai, Anming Lei, Danju Kang, Hailong Yan, Baohua Ma, Xiaolong Wang, Lei Qu, Yulin Chen
Increasing cashmere yield is one of the vital aims of cashmere goats breeding. Compared to traditional breeding methods, transgenic technology is more efficient and the piggyBac (PB) transposon system has been widely applied to generate transgenic animals. For the present study, donor fibroblasts were stably transfected via a PB donor vector containing the coding sequence of cashmere goat thymosin beta-4 (Tβ4) and driven by a hair follicle-specific promoter, the keratin-associated protein 6.1 (KAP6.1) promoter...
November 29, 2016: Transgenic Research
https://www.readbyqxmd.com/read/27899504/gene-function-analysis-in-the-ubiquitous-human-commensal-and-pathogen-malassezia-genus
#7
Giuseppe Ianiri, Anna F Averette, Joanne M Kingsbury, Joseph Heitman, Alexander Idnurm
: The genus Malassezia includes 14 species that are found on the skin of humans and animals and are associated with a number of diseases. Recent genome sequencing projects have defined the gene content of all 14 species; however, to date, genetic manipulation has not been possible for any species within this genus. Here, we develop and then optimize molecular tools for the transformation of Malassezia furfur and Malassezia sympodialis using Agrobacterium tumefaciens delivery of transfer DNA (T-DNA) molecules...
November 29, 2016: MBio
https://www.readbyqxmd.com/read/27899325/dystrophic-epidermolysis-bullosa-col7a1-mutation-landscape-in-a-multi-ethnic-cohort-of-152-extended-families-with-high-degree-of-customary-consanguineous-marriages
#8
Hassan Vahidnezhad, Leila Youssefian, Sirous Zeinali, Amir Hossein Saeidian, Soheila Sotudeh, Nikoo Mozafari, Maryam Abiri, Abdolmohammad Kajbafzadeh, Mohammadreza Barzegar, Adam Ertel, Paolo Fortina, Jouni Uitto
Dystrophic epidermolysis bullosa (DEB) is a heritable skin disease manifesting with sub-lamina densa blistering, erosions and chronic ulcers. COL7A1, encoding type VII collagen, has been identified as the candidate gene for DEB. In this study, we have identified COL7A1 mutations in a large multi-ethnic cohort of 152 extended Iranian families with high degree of consanguinity. The patients were diagnosed by clinical manifestations, histopathology and immunoepitope mapping. Mutation detection consisted of a combination of a single nucleotide polymorphism-based whole genome homozygosity mapping, Sanger sequencing and gene targeted next generation sequencing...
October 27, 2016: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/27899192/genetic-predisposition-to-melanoma
#9
REVIEW
Jason E Hawkes, Amanda Truong, Laurence J Meyer
Malignant melanoma is a rare, often fatal form of skin cancer with a complex multigenic etiology. The incidence of melanoma is increasing at an alarming rate. A number of heritable factors contribute to a patient's overall melanoma risk, including response to ultraviolet light, nevus number, and pigmentation characteristics, such as eye and hair color. Approximately 5%-10% of melanoma cases are familial, yet the majority of familial cases lack identifiable germ-line mutations in known susceptibility genes. Additionally, most familial melanomas lack germ-line mutations in genes that are commonly mutated in sporadic melanoma...
October 2016: Seminars in Oncology
https://www.readbyqxmd.com/read/27898140/ny-subtyp-av-molluscipoxvirus-p%C3%A3-visad-modern-teknik-identifierar-nya-och-ovanliga-patogener-snabbare
#10
Anna-Lena Hammarin, Yvonne Eklund, Maria Karlberg, Morten Bogh, Per Sikora
Molluscum contagiosum is a viral infection of the epidermis characterized by skin-colored papules or nodules frequently with a central depression. Atypical variants may occur, primarily in immunosuppressed individuals. We here report a case of »giant Molluscum contagiosum« in an immunocompetent child. The patient was presented with a fairly smooth nodule of 2 cm in diameter on the ring finger. Molluscipoxvirus-like virus particles were detected by electron microscopy from the nodule, but since the clinical picture was not compatible with MC, next generation sequencing was performed in order to verify the diagnosis...
November 28, 2016: Läkartidningen
https://www.readbyqxmd.com/read/27894337/intestinal-dysbiosis-is-common-in-systemic-sclerosis-and-associated-with-gastrointestinal-and-extraintestinal-features-of-disease
#11
Kristofer Andréasson, Zaid Alrawi, Anita Persson, Göran Jönsson, Jan Marsal
BACKGROUND: Recent evidence suggests a link between autoimmunity and the intestinal microbial composition in several rheumatic diseases including systemic sclerosis (SSc). The objective of this study was to investigate the prevalence of intestinal dysbiosis in SSc and to characterise patients suffering from this potentially immunomodulatory deviation. METHODS: This study consisted of 98 consecutive patients subject to in-hospital care. Stool samples were analysed for intestinal microbiota composition using a validated genome-based microbiota test (GA-map™ Dysbiosis Test, Genetic Analysis, Oslo, Norway)...
November 29, 2016: Arthritis Research & Therapy
https://www.readbyqxmd.com/read/27892491/selected-biomarkers-revealed-potential-skin-toxicity-caused-by-certain-copper-compounds
#12
Hairui Li, Pei Zhen Toh, Jia Yao Tan, Melvin T Zin, Chi-Ying Lee, Bo Li, Melvina Leolukman, Hongqian Bao, Lifeng Kang
Copper is an essential mineral and plays important roles in skin growth and activity. Copper delivery through skin can provide beneficial effects but its potential to induce skin irritation reactions is often overlooked. Data on dermal toxicity caused by copper compounds is scant. Some recognized in vitro skin toxicity methods are unsuitable for all metal compounds. Here, we employ a keratinocyte-based model and evaluated the skin irritation potential of copper compounds at cellular, genomic and proteomic levels...
November 28, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27888057/association-between-rs2294020-in-x-linked-ccdc22-and-susceptibility-to-autoimmune-diseases-with-focus-on-systemic-lupus-erythematosus
#13
Fabio D'Amico, Evangelia Skarmoutsou, Lauren J Lo, Mariagrazia Granata, Chiara Trovato, Giulio A Rossi, Chiara Bellocchi, Maurizio Marchini, Raffaella Scorza, Maria Clorinda Mazzarino, Alon Keinan
Autoimmune diseases often share common susceptibility genes. Most genetic variants associated with susceptibility to systemic lupus erythematosus are also associated with other autoimmune diseases. The X-linked variant rs2294020 is positioned in exon 7 of the CCDC22 gene. The encoded protein functions in the regulation of NF-κB, a master regulator in immune response. The aim of this study is to investigate whether the rs2294020 polymorphism may be a general susceptibility factor for autoimmunity. We evaluated case-control association between the occurrence of rs2294020 and different autoimmune diseases, including new data for systemic lupus erythematosus and previous genome-wide association studies (GWAS) (though most did not analyse the X chromosome) of psoriasis, celiac disease, Crohn's disease, ulcerative colitis, multiple sclerosis, vitiligo, type-1 diabetes, rheumatoid arthritis, and ankylosing spondylitis...
November 22, 2016: Immunology Letters
https://www.readbyqxmd.com/read/27884600/steaps-comprise-a-novel-inflammatory-nexus-in-pustular-skin-disorders
#14
Yun Liang, Xianying Xing, Maria A Beamer, William R Swindell, Mrinal K Sarkar, Liza Wolterink Roberts, John J Voorhees, J Michelle Kahlenberg, Paul W Harms, Andrew Johnston, Johann E Gudjonsson
BACKGROUND: Pustular skin disorders are a category of difficult-to-treat and potentially life threatening conditions that involve the appearance of neutrophil rich pustules. The molecular basis of most pustular skin conditions has remained unknown. OBJECTIVE: We sought to investigate the molecular basis of three pustular skin disorders, generalized pustular psoriasis (GPP), palmoplantar pustulosis (PPP), and acute generalized exanthematous pustulosis (AGEP). METHODS: Microarray analyses were performed to profile genome-wide gene expression of skin biopsies obtained from GPP, PPP, AGEP patients and normal controls...
November 21, 2016: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/27879220/generation-of-induced-pluripotent-stem-cells-ipscs-from-a-hereditary-spastic-paraplegia-patient-carrying-a-homozygous-y275x-mutation-in-cyp7b1-spg5
#15
Stefan Hauser, Philip Höflinger, Yvonne Theurer, Tim W Rattay, Ludger Schöls
Skin fibroblasts were obtained from a 47-year-old hereditary spastic paraplegia patient carrying a homozygous mutation Y275X in CYP7B1 (Cytochrome P450, Family 7, Subfamily B, Polypeptide 1), responsible for causing hereditary spastic paraplegia type 5 (SPG5). Induced pluripotent stem cells (iPSCs) were generated by transfection with episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC and hLIN28. The generated line iPS-SPG5-Y275X was transgene-free, retained the specific mutation with no additional genomic aberrations, expressed pluripotency markers and was able to differentiate into cells of all germ layers in vitro...
September 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27879217/generation-of-optic-atrophy-1-patient-derived-induced-pluripotent-stem-cells-ips-opa1-behr-for-disease-modeling-of-complex-optic-atrophy-syndromes-behr-syndrome
#16
Stefan Hauser, Stefanie Schuster, Yvonne Theurer, Matthis Synofzik, Ludger Schöls
Human skin fibroblasts were isolated from a 48-year-old patient carrying compound heterozygous mutations (c.610+364G>A and c.1311A>G) in OPA1, responsible for early onset optic atrophy complicated by ataxia and pyramidal signs (Behr syndrome; OMIM #210000). Fibroblasts were reprogrammed using episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC and hLIN28. The generated transgene-free line iPS-OPA1-BEHR showed no additional genomic aberrations, maintained the disease-relevant mutations, expressed important pluripotency markers and was capable to differentiate into cells of all three germ layers in vitro...
September 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27879216/generation-of-induced-pluripotent-stem-cells-ipscs-from-a-hereditary-spastic-paraplegia-patient-carrying-a-homozygous-r486c-mutation-in-cyp7b1-spg5
#17
Philip Höflinger, Yvonne Theurer, Rebecca Schüle, Ludger Schöls, Stefan Hauser
Skin fibroblasts were obtained from a 47-year-old hereditary spastic paraplegia patient carrying a homozygous mutation R486C in CYP7B1 (Cytochrome P450, Family 7, Subfamily B, Polypeptide 1), responsible for causing hereditary spastic paraplegia type 5 (SPG5). Induced pluripotent stem cells (iPSCs) were generated by transfection with episomal plasmids carrying hOCT4, hSOX2, hKLF4, hL-MYC and hLIN28. The generated line iPS-SPG5-R486C was transgene-free, retained the specific mutation with no additional genomic aberrations, expressed pluripotency markers and was able to differentiate into cells of all germ layers in vitro...
September 2016: Stem Cell Research
https://www.readbyqxmd.com/read/27872202/genome-wide-overexpression-screen-identifies-genes-able-to-bypass-p16-mediated-senescence-in-melanoma
#18
Won Jae Lee, Dubravka Škalamera, Mareike Dahmer-Heath, Konstanin Shakhbazov, Max V Ranall, Carly Fox, Duncan Lambie, Alexander J Stevenson, Paul Yaswen, Thomas J Gonda, Brian Gabrielli
Malignant melanomas often arise from nevi, which result from initial oncogene-induced hyperproliferation of melanocytes that are maintained in a CDKN2A/p16-mediated senescent state. Thus, genes that can bypass this senescence barrier are likely to contribute to melanoma development. We have performed a gain-of-function screen of 17,030 lentivirally expressed human open reading frames (ORFs) in a melanoma cell line containing an inducible p16 construct to identify such genes. Genes known to bypass p16-induced senescence arrest, including the human papilloma virus 18 E7 gene (HPV18E7), and genes such as the p16-binding CDK6 with expected functions, as well as panel of novel genes, were identified, including high-mobility group box (HMGB) proteins...
November 21, 2016: Journal of Biomolecular Screening
https://www.readbyqxmd.com/read/27871249/benign-clear-cell-sugar-tumor-of-the-lung-in-a-patient-with-birt-hogg-dub%C3%A3-syndrome-a-case-report
#19
Yoko Gunji-Niitsu, Toshio Kumasaka, Shigehiro Kitamura, Yoshito Hoshika, Takuo Hayashi, Hitoshi Tokuda, Riichiro Morita, Etsuko Kobayashi, Keiko Mitani, Mika Kikkawa, Kazuhisa Takahashi, Kuniaki Seyama
BACKGROUND: Birt-Hogg-Dubé (BHD) syndrome is a rare inherited autosomal genodermatosis and caused by germline mutation of the folliculin (FLCN) gene, a tumor suppressor gene of which protein product is involved in mechanistic target of rapamycin (mTOR) signaling pathway regulating cell growth and metabolism. Clinical manifestations in BHD syndrome is characterized by fibrofolliculomas of the skin, pulmonary cysts with or without spontaneous pneumothorax, and renal neoplasms. There has been no pulmonary neoplasm reported in BHD syndrome, although the condition is due to deleterious sequence variants in a tumor suppressor gene...
November 21, 2016: BMC Medical Genetics
https://www.readbyqxmd.com/read/27861979/targeted-inactivation-of-dna-photolyase-genes-in-medaka-fish-oryzias-latipes
#20
Tomoko Ishikawa-Fujiwara, Eri Shiraishi, Yoshihiro Fujikawa, Toshio Mori, Tohru Tsujimura, Takeshi Todo
Proteins of the cryptochrome/photolyase family (CPF) exhibit sequence and structural conservation, but their functions are divergent. Photolyase is a DNA repair enzyme that catalyzes the light-dependent repair of ultraviolet (UV)-induced photoproducts, whereas cryptochrome acts as a photoreceptor or circadian clock protein. Two types of DNA photolyase exist: CPD photolyase, which repairs cyclobutane pyrimidine dimers (CPDs), and 6-4 photolyase, which repairs 6-4 pyrimidine-pyrimidone photoproducts (6-4PPs)...
November 10, 2016: Photochemistry and Photobiology
keyword
keyword
58952
1
2
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"