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Runa Morita-Adachi, Takuya Takeichi, Yusuke Okuno, Shinsuke Kataoka, Shimpei Hoshino, Masashi Akiyama
No abstract text is available yet for this article.
July 27, 2017: European Journal of Dermatology: EJD
Remya Koshy, Anop Ranawat, Vinod Scaria
Middle East and North Africa (MENA) encompass very unique populations, with a rich history and encompasses characteristic ethnic, linguistic and genetic diversity. The genetic diversity of MENA region has been largely unknown. The recent availability of whole-exome and whole-genome sequences from the region has made it possible to collect population-specific allele frequencies. The integration of data sets from this region would provide insights into the landscape of genetic variants in this region. We integrated genetic variants from multiple data sets systematically, available from this region to create a compendium of over 26 million genetic variations...
June 22, 2017: Journal of Human Genetics
Sandra I Rodriguez Cruz, Marjorie A Phillips, Dietmar Kültz, Robert H Rice
Among the adaptations of aquatic species during evolution of terrestrial tetrapods was the development of an epidermis preventing desiccation. In present day mammals, keratinocytes of the epidermis, using a membrane-bound transglutaminase (Tgm1), accomplish this function by synthesizing a scaffold of cross-linked protein to which a lipid envelope is attached. This study characterizes the abilities of two homologous transglutaminase isozymes in the teleost fish tilapia to form cross-linked protein structures and their expression in certain tissues...
2017: PloS One
Nareh V Marukian, Rong-Hua Hu, Brittany G Craiglow, Leonard M Milstone, Jing Zhou, Amy Theos, Hande Kaymakcalan, Deniz A Akkaya, Jouni J Uitto, Hassan Vahidnezhad, Leila Youssefian, Susan J Bayliss, Amy S Paller, Lynn M Boyden, Keith A Choate
Importance: Bathing suit ichthyosis (BSI) is a rare congenital disorder of keratinization characterized by restriction of scale to sites of relatively higher temperature such as the trunk, with cooler areas remaining unaffected. Fewer than 40 cases have been reported in the literature. Bathing suit ichthyosis is caused by recessive, temperature-sensitive mutations in the transglutaminase-1 gene (TGM1). Clear genotype-phenotype correlations have been difficult to establish because several of the same TGM1 mutations have been reported in BSI and other forms of congenital ichthyosis...
June 1, 2017: JAMA Dermatology
Jennifer Huynh, Glen M Scholz, Jiamin Aw, Eric C Reynolds
We recently demonstrated that the expression of the interferon regulatory factor 6 (IRF6) transcription factor in oral keratinocytes was stimulated by the periodontal pathogen Porphyromonas gingivalis Here, we have established that IRF6 promotes the differentiation of oral keratinocytes in response to P. gingivalis This was evidenced by the IRF6-dependent upregulation of specific markers of keratinocyte terminal differentiation (e.g., involucrin [IVL] and keratin 13 [KRT13]), together with additional transcriptional regulators of keratinocyte differentiation, including Grainyhead-like 3 (GRHL3) and Ovo-like zinc finger 1 (OVOL1)...
May 2017: Infection and Immunity
Kiruphagaran Thangaraju, Róbert Király, Máté A Demény, János András Mótyán, Mónika Fuxreiter, László Fésüs
Transglutaminases (TGMs) catalyze Ca2+-dependent transamidation of proteins with specified roles in blood clotting (F13a) and in cornification (TGM1, TGM3). The ubiquitous TGM2 has well described enzymatic and non-enzymatic functions but in-spite of numerous studies its physiological function in humans has not been defined. We compared data on non-synonymous single nucleotide variations (nsSNVs) and loss-of-function variants on TGM1-7 and F13a from the Exome aggregation consortium dataset, and used computational and biochemical analysis to reveal the roles of damaging nsSNVs of TGM2...
2017: PloS One
Fatma Bastaki, Madiha Mohamed, Pratibha Nair, Fatima Saif, Ethar M Mustafa, Sami Bizzari, Mahmoud T Al-Ali, Abdul Rezzak Hamzeh
BACKGROUND: Clinical and molecular heterogeneity is a prominent characteristic of congenital ichthyoses, with the involvement of numerous causative loci. Mutations in these loci feature in autosomal recessive congenital ichthyoses (ARCIs) quite variably, with certain genes/mutations being more frequently uncovered in particular populations. METHODS: In this study, we used whole exome sequencing as well as direct Sanger sequencing to uncover four novel mutations in ARCI-related genes, which were found in families from the United Arab Emirates...
February 24, 2017: International Journal of Dermatology
Cristina Wolf, Yawen Qian, Matthew A Brooke, David P Kelsell, Claus-Werner Franzke
The vitally important skin barrier is formed by extensive cross-linking activity of transglutaminases (TGs) during terminal epidermal differentiation. We have previously shown that epidermal deficiency of a disintegrin and metalloproteinase 17 (ADAM17), the principal EGFR ligand sheddase, results in postnatal skin barrier defects in mice due to impeded TG activity. However, the mechanism by which ADAM17/EGFR signalling maintains TG activity during epidermal differentiation remains elusive. Here we demonstrate that ADAM17-dependent EGFR signalling promotes TG activity in keratinocytes committed to terminal differentiation by direct induction of TG1 expression...
December 22, 2016: Scientific Reports
Glen M Scholz, Nur S Sulaiman, Sahar Al Baiiaty, Mei Qi Kwa, Eric C Reynolds
Keratinocytes are central to the barrier functions of surface epithelia, such as the gingiva and epidermis. RIPK4 is a key regulator of keratinocyte differentiation; however, the signalling pathways in which it functions remain poorly defined. In this study, we identified a regulatory relationship between RIPK4 and ELF3, an ETS family transcription factor. RIPK4 was shown to be important for the upregulation of ELF3 gene expression by the PKC agonist PMA in both oral and epidermal keratinocytes. RIPK4 promotes keratinocyte differentiation in part by phosphorylating and thereby activating the IRF6 transcription factor...
December 2016: Cellular Signalling
Haitao Huang, Zhiqi Chen, Xiuqin Ni
Gastric cancer is a common malignancy, and is one of the most frequent causes of cancer deaths worldwide. Recently, members of the transglutaminases (TGM) family, especially TGM2, have been implicated in the progression and drug resistance of cancers, but the function of TGM1 in cancer development has been largely overlooked. In this study, we demonstrate the roles of TGM1 in development of gastric cancer. We found that expression levels of TGM1 were upregulated in both gastric cancer tissues and cultured gastric cancer cells, and that TGM1 expression levels were correlated with patient survival...
January 2017: Experimental Biology and Medicine
Takashi Haneda, Yasutomo Imai, Ryosuke Uchiyama, Orie Jitsukawa, Kiyofumi Yamanishi
Mutations of the transglutaminase 1 gene (TGM1) are a major cause of autosomal recessive congenital ichthyoses (ARCIs) that are associated with defects in skin barrier structure and function. However, the molecular processes induced by the transglutaminase 1 deficiency are not fully understood. The aim of the present study was to uncover those processes by analysis of cutaneous molecular signatures. Gene expression profiles of wild-type and Tgm1-/-epidermis were assessed using microarrays. Gene ontology analysis of the data showed that genes for innate defense responses were up-regulated in Tgm1-/-epidermis...
2016: PloS One
Lili Li, Chris J Watson, Mickael Dubourd, Aine Bruton, Maojia Xu, Gordon Cooke, John A Baugh
INTRODUCTION: Hypoxia has been implicated in the pathogenesis of many inflammatory and fibrotic lung diseases. The effect of hypoxia on epithelial junction protein expression is yet to be fully elucidated but evidence suggests a protective role for the hypoxia-inducible transcription factor HIF-1 in stabilising occludin. Transglutaminase 1 (TGM1) has been shown to stabilise endothelial and keratinocyte cell junctions, and while its expression and function have been mostly studied in the skin, recent studies have reported its expression in the lung...
October 2016: Lung
Robert H Rice, Blythe P Durbin-Johnson, Yosuke Ishitsuka, Michelle Salemi, Brett S Phinney, David M Rocke, Dennis R Roop
The crosslinked envelope of the mammalian epidermal corneocyte serves as a scaffold for assembly of the lipid barrier of the epidermis. Thus, deficient envelope crosslinking by keratinocyte transglutaminase (TGM1) is a major cause of the human autosomal recessive congenital ichthyoses characterized by barrier defects. Expectations that loss of some envelope protein components would also confer an ichthyosis phenotype have been difficult to demonstrate. To help rationalize this observation, the protein profile of epidermis from loricrin knockout mice has been compared to that of wild type...
August 5, 2016: Journal of Proteome Research
Chuang Mu, Ruijia Wang, Tianqi Li, Yuqiang Li, Meilin Tian, Wenqian Jiao, Xiaoting Huang, Lingling Zhang, Xiaoli Hu, Shi Wang, Zhenmin Bao
Long non-coding RNA (lncRNA) structurally resembles mRNA but cannot be translated into protein. Although the systematic identification and characterization of lncRNAs have been increasingly reported in model species, information concerning non-model species is still lacking. Here, we report the first systematic identification and characterization of lncRNAs in two sea cucumber species: (1) Apostichopus japonicus during lipopolysaccharide (LPS) challenge and in heathy tissues and (2) Holothuria glaberrima during radial organ complex regeneration, using RNA-seq datasets and bioinformatics analysis...
August 2016: Marine Biotechnology
Salma M Wakil, Yousef Binamer, Haya Al-Dossari, Rawan Al-Humaidy, Rula Al Thuraya, Ola Khalifa, Josef Finsterer, Brian F Meyer, Mohammed Al Owain
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a rare disorder of keratinization. Infants (10-15%) born with this condition are encapsulated in hyperkeratotic membrane covering the entire body and are called "collodion babies." So far, mutations in nine different genes have been identified as causative and implicated in the pathogenesis of the clinically and genetically heterogeneous group of ARCI disorders. Among these, TGM1 is the gene most commonly mutated in ARCI...
June 2016: International Journal of Dermatology
Maritta Hellström Pigg, Anette Bygum, Agneta Gånemo, Marie Virtanen, Flemming Brandrup, Andreas D Zimmer, Alrun Hotz, Anders Vahlquist, Judith Fischer
Autosomal recessive congenital ichthyosis (ARCI) represents a heterogeneous group of rare disorders of cornification with 3 major subtypes: harlequin ichthyosis (HI), lamellar ichthyosis (LI) and congenital ichthyosiform erythroderma (CIE). A 4th subtype has also been proposed: pleomorphic ichthyosis (PI), characterized by marked skin changes at birth and subsequently mild symptoms. In nationwide screenings of suspected cases of ARCI in Denmark and Sweden, we identified 132 patients (age range 0.1-86 years) classified as HI (n = 7), LI (n = 70), CIE (n = 17) and PI (n = 38)...
November 2, 2016: Acta Dermato-venereologica
Sanae Numata, Kwesi Teye, Tadashi Karashima, Mitsuhiro Matsuda, Takahiro Hamada, Takashi Hashimoto
No abstract text is available yet for this article.
August 2016: Experimental Dermatology
Michael Cangkrama, Charbel Darido, Smitha R Georgy, Darren Partridge, Alana Auden, Seema Srivastava, Tomasz Wilanowski, Stephen M Jane
The skin barrier is critical for mammalian survival in the terrestrial environment, affording protection against fluid loss, microbes, toxins, and UV exposure. Many genes indispensable for barrier formation in the embryo have been identified, but loss of these genes in adult mice does not induce barrier regression. We describe a complex regulatory network centered on two ancient gene families, the grainyhead-like (Grhl) transcription factors and the protein cross-linking enzymes (tissue transglutaminases [Tgms]), which are essential for skin permeability barrier maintenance in adult mice...
July 2016: Journal of Investigative Dermatology
Jessie A G L van Buggenum, Jan P Gerlach, Selma Eising, Lise Schoonen, Roderick A P M van Eijl, Sabine E J Tanis, Mark Hogeweg, Nina C Hubner, Jan C van Hest, Kimberly M Bonger, Klaas W Mulder
Immuno-PCR combines specific antibody-based protein detection with the sensitivity of PCR-based quantification through the use of antibody-DNA conjugates. The production of such conjugates depends on the availability of quick and efficient conjugation strategies for the two biomolecules. Here, we present an approach to produce cleavable antibody-DNA conjugates, employing the fast kinetics of the inverse electron-demand Diels-Alder reaction between tetrazine and trans-cyclooctene (TCO). Our strategy consists of three steps...
March 7, 2016: Scientific Reports
Lucero Noguera-Morel, Marta Feito-Rodríguez, Paola Maldonado-Cid, Sixto García-Miñáur, Erik-Jan Kamsteeg, Rogelio González-Sarmiento, Raúl De Lucas-Laguna, Angela Hernández-Martín, Antonio Torrelo
Collodion babies are born with a tight, shiny cast that sheds in a few weeks. After shedding, most patients will display features of autosomal recessive congenital ichthyosis (ARCI) later in life but in up to 10% of cases, the skin eventually becomes normal or only minimally involved, a phenotype called self-healing collodion baby (SHCB), which is considered as ARCI subtype in the 2010 consensus classification of congenital ichthyosis. The term self-improving collodion ichthyosis (SICI) has been proposed for these patients...
March 2016: Pediatric Dermatology
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