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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...
September 22, 2016: 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)...
March 30, 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...
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
Aayush Gupta, Yugal Sharma, Kirti Deo, Shamsudheen Vellarikkal, Rijith Jayarajan, Vishal Dixit, Ankit Verma, Vinod Scaria, Sridhar Sivasubbu
Lamellar ichthyosis (LI), considered an autosomal recessive monogenic genodermatosis, has an incidence of approximately 1 in 250,000. Usually associated with mutations in the transglutaminase gene ( TGM1), mutations in six other genes have, less frequently, been shown to be causative. Two siblings, born in a collodion membrane, presented with fish like scales all over the body. Karyotyping revealed duplication of the chromosome arm on 22q12+ in the father and two siblings. Whole exome sequencing revealed a homozygous p...
2015: F1000Research
Mitsutoki Hatta, Kaori Naganuma, Kenichi Kato, Jun Yamazaki
In tumor tissues, alterations of gene expression caused by aberrant epigenetic modifications confer phenotypic diversity on malignant cells. Although 3-deazaneplanocin A (DZNep) has been shown to reactivate tumor suppressor genes in several cancer cells, it remains unclear whether DZNep attenuates the malignant phenotypes of oral squamous cell carcinoma (OSCC) cells. In this study, we investigated the effect of DZNep on the expression of genes related to aggressive phenotypes, such as epithelial-mesenchymal transition, in OSCC cells...
December 4, 2015: Biochemical and Biophysical Research Communications
D Maier, J Mazereeuw-Hautier, M Tilinca, R Cosgarea, N Jonca
Autosomal recessive congenital ichthyosis (ARCI), a severe and highly clinically heterogeneous group of mendelian disorders of cornification, is the result of mutations in at least nine genes regulating the epidermal barrier functionality. NIPAL4 is the second most frequently mutated ARCI gene. We report two adult patients from a nonconsanguineous family of Romanian origin, who had lamellar ichthyosis. A positive in situ transglutaminase 1 activity assay excluded a putative TGM1 mutation. NIPAL4 sequencing revealed in both patients a new homozygous missense mutation, c...
April 2016: Clinical and Experimental Dermatology
Deepak Sharma, Basudev Gupta, Sweta Shastri, Aakash Pandita, Smita Pawar
Collodion baby (CB) is normally diagnosed at the time of birth and refers to a newborn infant that is delivered with a lambskin-like membrane encompassing the total body surface. CB is not a specific disease entity, but is a common phenotype in conditions like harlequin ichthyosis, lamellar ichthyosis, nonbullous congenital ichthyosiform erythroderma, and trichothiodystrophy. We report a CB that was brought to our department and later diagnosed to have TGM1 gene c.984+1G>A mutation. However, it could not be ascertained whether the infant had lamellar ichthyosis or congenital ichthyosiform erythroderma (both having the same mutation)...
2015: International Medical Case Reports Journal
Dewang Angmo, Bharat Patil, Rohit Agarwal, Kuldeep Mohanty, Archita Singh
PURPOSE: Ichthyosis is known to have ocular associations such as blepharitis, hypertrophic conjunctivitis, corneal vascularization, ectropion, lagophthalmos, etc. However, no reports of its association with glaucoma are there, to the best of our knowledge. We report a unique case of juvenile open-angle glaucoma (JOAG) with lamellar ichthyosis. METHOD: A 16-year-old male child presented with a gradual, painless progressive diminution of vision in both eyes over a period of 3 years...
March 2016: Journal of Glaucoma
Fan Yan, Shaokang Di, Ryoji Takahashi
The R gene of soybean, presumably encoding a MYB transcription factor, controls seed coat color. The gene consists of multiple alleles, R (black), r-m (black spots and (or) concentric streaks on brown seed), and r (brown seed). This study was conducted to determine the structure of the MYB transcription factor gene in a near-isogenic line (NIL) having r-m allele. PCR amplification of a fragment of the candidate gene Glyma.09G235100 generated a fragment of about 1 kb in the soybean cultivar Clark, whereas a fragment of about 14 kb in addition to fragments of 1 and 1...
August 2015: Genome Génome / Conseil National de Recherches Canada
Chiara De Leonibus, Claudio Lembo, Alfredo Santantonio, Tiziana Fioretti, Silvana Rojo, Francesco Salvatore, Massimiliano De Vivo, Gabriella Esposito, Paolo Giliberti
Lamellar ichthyosis is a rare congenital disorder characterized by collodion membrane at birth and facial anomalies (eclabium and ectropion). The major underlying genetic defect is in TGM1, with mutations of this gene found in 50% of patients. An early diagnosis is fundamental in view of establishing a specific treatment due to the severity of the disease. We report a case of severe lamellar ichthyosis and arthrogryposis, without the typical facial presentation, negative for TGM1 mutations. The clinical improvement was achieved only after treatment with oral retinoids, highlighting the importance of early diagnosis and prompt administration of a specific therapy...
June 30, 2015: Journal of Dermatological Case Reports
San-Quan Zhang, Chang-Xing Li, Xin-Qian Gao, Wen-Yuan Qiu, Quan Chen, Xue-Mei Li, Xin Zhou, Xin Tian, Zhi-Ping Tang, Tian Zhao, Fang Zhang, Xi-Bao Zhang
BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) is a group of genetically heterogeneous diseases. Mutations in transglutaminase (TGase) 1 gene (TGM1, OMIM 190195) have been implicated in ARCI. However, little is known about TGM1 mutations in the Chinese population, and no functional studies have investigated the biological effect of mutant TGM1 on human epidermal keratinocytes (HaCaT) cells. OBJECTIVES: To identify the pathogenic mutations of TGM1 gene in two Chinese siblings with ARCI and gain insight into functional consequences of these mutations...
February 2016: International Journal of Dermatology
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