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https://www.readbyqxmd.com/read/28101863/lessons-from-animal-models-of-cytoplasmic-intermediate-filament-proteins
#1
Jamal-Eddine Bouameur, Thomas M Magin
Cytoplasmic intermediate filaments (IFs) represent a major cytoskeletal network contributing to cell shape, adhesion and migration as well as to tissue resilience and renewal in numerous bilaterians, including mammals. The observation that IFs are dispensable in cultured mammalian cells, but cause tissue-specific, life-threatening disorders, has pushed the need to investigate their function in vivo. In keeping with human disease, the deletion or mutation of murine IF genes resulted in highly specific pathologies...
2017: Sub-cellular Biochemistry
https://www.readbyqxmd.com/read/28056409/efficacy-of-metformin-in-human-single-hair-fibre-by-atr-ftir-spectroscopy-coupled-with-statistical-analysis
#2
Kamatchi Sundaramoorthi, Gunasekaran Sethu, Sailatha Ethirajulu, Pavithra Raja Marthandam
Diabetes mellitus is chronic metabolic disorder, resulting from insulin deficiency, characterized by hyperglycemia altered metabolism of carbohydrates, proteins and lipids and an increased risk of vascular complications. There are different classes of anti-diabetic drugs in allopathic system of medicine. Metformin (dimethyl biguanide) is a blood glucose lowering agent used in the treatment of non-insulin dependent diabetes mellitus. Almost in all diseases the blood serves as the primary metabolic transport system in the body...
December 27, 2016: Journal of Pharmaceutical and Biomedical Analysis
https://www.readbyqxmd.com/read/28043376/disorders-in-barrier-protein-mrna-expression-and-placenta-secretory-activity-under-the-influence-of-polychlorinated-biphenyls-in%C3%A2-vitro
#3
A Wojciechowska, J Mlynarczuk, J Kotwica
Pregnancy disorders are often correlated with the presence of organic pollutants in the tissues of living bodies. The aim of this study was to investigate the effects (over 24 and 48 hours) of polychlorinated biphenyls (PCBs) 153, 126, and 77 at doses of 1, 10, and 100 ng/mL on barrier function and secretory activity in cow placentome sections collected during the second trimester of pregnancy. None of the PCBs affected the viability of the sections (P > 0.05). Polychlorinated biphenyl 153 decreased (P < 0...
February 2017: Theriogenology
https://www.readbyqxmd.com/read/28000977/silac-based-quantitative-proteomic-analysis-reveals-widespread-molecular-alterations-in-human-skin-keratinocytes-upon-chronic-arsenic-exposure
#4
Sartaj Ahmad Mir, Sneha M Pinto, Somnath Paul, Remya Raja, Vishalakshi Nanjappa, Nazia Syed, Jayshree Advani, Santosh Renuse, Nandini A Sahasrabuddhe, T S Keshava Prasad, Ashok K Giri, Harsha Gowda, Aditi Chatterjee
Chronic exposure to arsenic is associated with dermatological and nondermatological disorders. Consumption of arsenic-contaminated drinking water results in accumulation of arsenic in liver, spleen, kidneys, lungs, and gastrointestinal tract. Although arsenic is cleared from these sites, a substantial amount of residual arsenic is left in keratin-rich tissues including skin. Epidemiological studies suggest the association of skin cancer upon arsenic exposure, however, the mechanism of arsenic-induced carcinogenesis is not completely understood...
October 19, 2016: Proteomics
https://www.readbyqxmd.com/read/27992514/induction-of-skin-derived-precursor-cells-from-human-induced-pluripotent-stem-cells
#5
Yoriko Sugiyama-Nakagiri, Tsutomu Fujimura, Shigeru Moriwaki
The generation of full thickness human skin from dissociated cells is an attractive approach not only for treating skin diseases, but also for treating many systemic disorders. However, it is currently not possible to obtain an unlimited number of skin dermal cells. The goal of this study was to develop a procedure to produce skin dermal stem cells from induced pluripotent stem cells (iPSCs). Skin-derived precursor cells (SKPs) were isolated as adult dermal precursors that could differentiate into both neural and mesodermal progenies and could reconstitute the dermis...
2016: PloS One
https://www.readbyqxmd.com/read/27984435/tissue-fluorescence-imaging-velscope-for-quick-non-invasive-diagnosis-in-oral-pathology
#6
Marco Cicciù, Alan Scott Herford, Gabriele Cervino, Giuseppe Troiano, Floriana Lauritano, Luigi Laino
Oral squamous cell carcinoma is the most common form of malignancy of the oral cavity; its incidence is increasing and late-stage presentation is common. It is usually predated by oral premalignant disorders. For this reason, early diagnosis is fundamental to reduce the malignant transformation of oral premalignant disorders and for increase the survival rate for oral cancer. Scraping the surface of the lesion is useful for having cytological features of the investigated tissue. The features of smears of oral premalignant lesions are the keratinization growth (red, orange, brown), the increased nuclear area and so the nuclear hyperchromatism, the nuclear pleomorphism, and the chromatin clumping...
December 14, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/27965375/recessive-progressive-symmetric-erythrokeratoderma-results-from-a-homozygous-loss-of-function-mutation-of-krt83-and-is-allelic-with-dominant-monilethrix
#7
Khadim Shah, Muhammad Ansar, Zaib-Un-Nisa Mughal, Falak Sher Khan, Wasim Ahmad, Tracey M Ferrara, Richard A Spritz
BACKGROUND: Progressive symmetric erythrokeratoderma (PSEK) is a rare skin disorder characterised by symmetrically distributed demarcated hyperkeratotic plaques, often with associated palmoplantar hyperkeratosis, with new plaques appearing over time. Most cases are inherited in an autosomal dominant manner, although a few cases exhibit apparent autosomal recessive inheritance. OBJECTIVE: To identify the gene underlying autosomal recessive PSEK in a large Pakistani kindred...
December 13, 2016: Journal of Medical Genetics
https://www.readbyqxmd.com/read/27920816/concomitant-extraspinal-hyperostosis-and-osteoporosis-in-a-patient-with-congenital-ichthyosis
#8
Niloufar Torkamani, Pramit Phal, Ravi Savarirayan, Peter Simm, George Varigos, John Wark
Ichthyosiform dermatosis is a term referred to a group of disorders that have as their basis a disorder of keratinization (1). These conditions which are present at birth result in a generalized dry, scaly skin without any inflammation. There are several types of ichthyosis based on their clinical presentation and mode of inheritance. The most common types are: ichthyosis vulgaris, X-linked recessive ichthyosis, epidermolytic hyperkeratosis (bullous), lamellar ichthyosis and non-bullous ichthyosiform erythroderma...
May 2016: Clinical Cases in Mineral and Bone Metabolism
https://www.readbyqxmd.com/read/27904268/clinicopathological-features-and-immunohistochemical-alterations-of-keratinocyte-proliferation-melanocyte-density-smooth-muscle-hyperplasia-and-nerve-fiber-distribution-in-becker-s-nevus
#9
Ping Sheng, Yun-Long Cheng, Chuan-Chuan Cai, Wei-Jin Guo, Ying Zhou, Ge Shi, Yi-Ming Fan
BACKGROUND: Although Becker's nevus (BN) is a relatively common disease, the systematic studies of clinicopathological and immunohistochemical results are poorly reported. OBJECTIVE: To investigate the clinicopathological features and immunohistochemical alterations of keratinocyte proliferation, melanocyte density, smooth muscle hyperplasia and nerve fiber distribution in BN. METHODS: Clinical and pathological data were collected in 60 newly-diagnosed BN cases...
December 2016: Annals of Dermatology
https://www.readbyqxmd.com/read/27894940/changes-in-the-mrna-expression-of-structural-proteins-hormone-synthesis-and-secretion-from-bovine-placentome-sections-after-ddt-and-dde-treatment
#10
A Wojciechowska, J Mlynarczuk, J Kotwica
Disorders in the barrier function and secretory activity of the placenta can be caused by xenobiotics (XB) present in the environment and their accumulation in tissues of living organisms. Thus, the aim of this study was to investigate the effect of 1,1,1-trichloro-2,2,-bis-4-chlorophenyl-ethane (DDT) and its metabolite 1,1-dichloro-2,2-bis-4-chlorophenyl-ethene (DDE) (for 24 or 48h) at doses of 1, 10 or 100ng/ml on the function of cow placentome sections in the second trimester of pregnancy. DDT and DDE affected neither (P>0...
January 15, 2017: Toxicology
https://www.readbyqxmd.com/read/27889290/randomized-split-body-single-blinded-clinical-trial-of-topical-broccoli-sprout-extract-assessing-the-feasibility-of-its-use-in-keratin-based-disorders
#11
Michelle L Kerns, Lark Guss, Jed Fahey, Bernard Cohen, Jill M C Hakim, Sarah Sung, Rosemary G Lu, Pierre A Coulombe
BACKGROUND: Epidermolysis bullosa simplex is a skin-blistering disorder caused by mutations in keratin (K)14 or K5. Treatment with nuclear factor (erythroid-derived 2)-like 2 inducer sulforaphane ameliorated skin blistering in Krt14-null mice, correlating with induction of K17. To be therapeutically useful for epidermolysis bullosa simplex, topical broccoli sprout extract (BSE), enriched for sulforaphane, would ideally induce the expression of homologous keratins (eg, K6, K17, K16) in the basal layer of human epidermis without impacting expression of defective keratins (K5/K14)...
November 23, 2016: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/27889062/monoallelic-mutations-in-the-translation-initiation-codon-of-klhl24-cause-skin-fragility
#12
Yinghong He, Kristin Maier, Juna Leppert, Ingrid Hausser, Agnes Schwieger-Briel, Lisa Weibel, Martin Theiler, Dimitra Kiritsi, Hauke Busch, Melanie Boerries, Katariina Hannula-Jouppi, Hannele Heikkilä, Kaisa Tasanen, Daniele Castiglia, Giovanna Zambruno, Cristina Has
The genetic basis of epidermolysis bullosa, a group of genetic disorders characterized by the mechanically induced formation of skin blisters, is largely known, but a number of cases still remain genetically unsolved. Here, we used whole-exome and targeted sequencing to identify monoallelic mutations, c.1A>G and c.2T>C, in the translation initiation codon of the gene encoding kelch-like protein 24 (KLHL24) in 14 individuals with a distinct skin-fragility phenotype and skin cleavage within basal keratinocytes...
December 1, 2016: American Journal of Human Genetics
https://www.readbyqxmd.com/read/27867741/pityriasis-rubra-pilaris-like-eruption-following-insulin-therapy-initiation
#13
Talel Badri, Anissa Zaouak, Ghozlane Lakhoua, Wafaa Koubaa, Sami Fennich, Ahmed Zaiem
Pityriasis rubra pilaris (PRP) is a chronic disorder of keratinization of unclear pathogenesis. PRP-like eruptions induced by drugs have rarely been described. A previously healthy 29-year-old man presented with a generalized, rapidly spreading, erythematosquamous dermatosis, that started three days after initiation of subcutaneous insulin therapy for diabetes mellitus type 1. Clinical and histopathological features were consistent with a PRP-like eruption, possibly due to insulin therapy. The patient was switched to insulin analogue therapy and a complete healing of all lesions was achieved after two months...
October 2016: Dermatology Practical & Conceptual
https://www.readbyqxmd.com/read/27862685/topical-application-of-probiotics-in-skin-adhesion-antimicrobial-and-antibiofilm-in%C3%A2-vitro-assays
#14
E G Lopes, D A Moreira, P Gullón, B Gullón, A Cardelle-Cobas, F K Tavaria
AIMS: When skin dysbiosis occurs as a result of skin disorders, probiotics can act as modulators, restoring microbial balance. Several properties of selected probiotics were evaluated so that their topical application could be considered. METHODS AND RESULTS: Adhesion, antimicrobial, quorum sensing and antibiofilm assays were carried out with several probiotic strains and tested against selected skin pathogens. All tested strains displayed significant adhesion to keratin...
November 12, 2016: Journal of Applied Microbiology
https://www.readbyqxmd.com/read/27798626/stabilizing-mutations-of-klhl24-ubiquitin-ligase-cause-loss-of-keratin-14-and-human-skin-fragility
#15
Zhimiao Lin, Shuo Li, Cheng Feng, Shang Yang, Huijun Wang, Danhui Ma, Jing Zhang, Mengting Gou, Dingfang Bu, Tengjiang Zhang, Xiaohui Kong, Xintong Wang, Ofer Sarig, Yali Ren, Lanlan Dai, Hankui Liu, Jianguo Zhang, Fei Li, Yongyan Hu, Gilly Padalon-Brauch, Dan Vodo, Feng Zhou, Ting Chen, Haiteng Deng, Eli Sprecher, Yong Yang, Xu Tan
Skin integrity is essential for protection from external stress and trauma. Defects in structural proteins such as keratins cause skin fragility, epitomized by epidermolysis bullosa (EB), a life-threatening disorder. Here we show that dominant mutations of KLHL24, encoding a cullin 3-RBX1 ubiquitin ligase substrate receptor, cause EB. We have identified start-codon mutations in the KLHL24 gene in five patients with EB. These mutations lead to truncated KLHL24 protein lacking the initial 28 amino acids (KLHL24-ΔN28)...
December 2016: Nature Genetics
https://www.readbyqxmd.com/read/27789971/morgellons-disease-a-filamentous-borrelial-dermatitis
#16
REVIEW
Marianne J Middelveen, Raphael B Stricker
Morgellons disease (MD) is a dermopathy characterized by multicolored filaments that lie under, are embedded in, or project from skin. Although MD was initially considered to be a delusional disorder, recent studies have demonstrated that the dermopathy is associated with tickborne infection, that the filaments are composed of keratin and collagen, and that they result from proliferation of keratinocytes and fibroblasts in epithelial tissue. Culture, histopathological and molecular evidence of spirochetal infection associated with MD has been presented in several published studies using a variety of techniques...
2016: International Journal of General Medicine
https://www.readbyqxmd.com/read/27783455/mutations-in-plc%C3%AE-1-associated-with-hereditary-leukonychia-display-divergent-pip2-hydrolytic-function
#17
Michail Nomikos, Angelos Thanassoulas, Konrad Beck, Maria Theodoridou, Jasmine Kew, Junaid Kashir, Brian L Calver, Emily Matthews, Pierre Rizkallah, Zili Sideratou, George Nounesis, F Anthony Lai
Hereditary leukonychia is a rare genetic nail disorder characterized by distinctive whitening of the nail plate of all 20 nails. Hereditary leukonychia may exist as an isolated feature, or in simultaneous occurrence with other cutaneous or systemic pathologies. Associations between hereditary leukonychia and mutations in the gene encoding phospholipase C delta-1 (PLCδ1) have previously been identified. However, the molecular mechanisms underlying PLCδ1 mutations and hereditary leukonychia remain uncharacterized...
December 2016: FEBS Journal
https://www.readbyqxmd.com/read/27699474/atlas-of-human-diseases-influenced-by-genetic-variants-with-extreme-allele-frequency-differences
#18
Arvis Sulovari, Yolanda H Chen, James J Hudziak, Dawei Li
Genetic variants with extreme allele frequency differences (EAFD) may underlie some human health disparities across populations. To identify EAFD loci, we systematically analyzed and characterized 81 million genomic variants from 2504 unrelated individuals of 26 world populations (phase III of the 1000 Genomes Project). Our analyses revealed a total of 434 genes, 15 pathways, and 18 diseases and traits influenced by EAFD variants from five continental populations. They included known EAFD genes, such as LCT (lactose tolerance), SLC24A5 (skin pigmentation), and EDAR (hair morphology)...
October 3, 2016: Human Genetics
https://www.readbyqxmd.com/read/27694187/basal-cell-carcinoma-in-two-hermann-s-tortoises-testudo-hermanni
#19
Tom Hellebuyck, Richard Ducatelle, Leslie Bosseler, Annemie Van Caelenberg, Han Versnaeyen, Koen Chiers, An Martel
Neoplastic disorders are frequently encountered in the practice of reptile medicine. Herein we report the clinical behavior, antemortem diagnosis, and histopathologic characteristics of a recurrent intraoral keratinizing basal cell carcinoma (BCC) and a metastatic BCC of the carapace in 2 Hermann's tortoises (Testudo hermanni). Although squamous cell carcinomas (SCCs) in tortoises show similar predilection sites and gross pathologic features, the BCCs described in our report were characterized by a remarkably fast and highly infiltrative growth in comparison to SCCs...
November 2016: Journal of Veterinary Diagnostic Investigation
https://www.readbyqxmd.com/read/27664712/expanding-the-mutation-spectrum%C3%A2-of%C3%A2-ichthyosis-with-confetti
#20
Young H Lim, Keith A Choate
Ichthyosis with confetti is a rare, autosomal dominant disorder caused by frameshift mutations in KRT10 or KRT1 and characterized by the development of white, genetically revertant macules in red, diseased skin. All cases result from mutations affecting the tail domains of keratin-10 or keratin-1, and Suzuki et al. expand the mutation spectrum for ichthyosis with confetti caused by mutations in KRT1, showing that a polyarginine frameshift in the keratin-1 tail can also cause this disorder.
October 2016: Journal of Investigative Dermatology
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