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https://www.readbyqxmd.com/read/29653007/-analysis-of-tgm1-gene-mutation-in-a-collodion-baby
#1
Rui Han, Ling Duan, Shuang Wu, Xiaoran Liu
OBJECTIVE: To explore the genetic cause for a Uyghur Chinese child with collodion skin. METHODS: G-banded chromosomal karyotyping was carried out for the child and his parents. High-throughput sequencing for 25 genes related to ichthyosis and ichthyosiform dermatosis was also performed for the child. RESULTS: No karyotypic abnormality was found in the child and his parents. High-throughput sequencing has detected in the patient a previously described pathogenic mutation c...
April 10, 2018: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29444371/whole-exome-sequencing-for-diagnosis-of-hereditary-ichthyosis
#2
J C Sitek, M A Kulseth, K B Rypdal, T Skodje, Y Sheng, L Retterstøl
BACKGROUND: Hereditary ichthyosis constitutes a diverse group of cornification disorders. Identification of the molecular cause facilitates optimal patient care. OBJECTIVE: We wanted to estimate the diagnostic yield of applying whole-exome sequencing (WES) in the routine genetic work-up of inherited ichthyosis. METHODS: During a 3-year-period, all ichthyosis patients, except X-linked and mild vulgar ichthyosis, consecutively admitted to a university hospital clinic were offered WES with subsequent analysis of ichthyosis-related genes as a first-line genetic investigation...
February 14, 2018: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29396135/novel-tgm1-mutation-in-a-pakistani-family-affected-with-severe-lamellar-ichthyosis
#3
Madiha Rasheed, Noreen Karim, Faiez Ahmed Shah, Muhammad Naeem
No abstract text is available yet for this article.
January 9, 2018: Pediatrics and Neonatology
https://www.readbyqxmd.com/read/29326042/keratin-13-gene-is-epigenetically-suppressed-during-transforming-growth-factor-%C3%AE-1-induced-epithelial-mesenchymal-transition-in-a-human-keratinocyte-cell-line
#4
Mitsutoki Hatta, Yuki Miyake, Kunitoshi Uchida, Jun Yamazaki
Epithelial-mesenchymal transition (EMT) is a biological event in which epithelial cells lose their polarity and cell-cell adhesions and concomitantly acquire mesenchymal traits, and is thought to play an important role in pathological processes such as wound healing and cancer progression. In this study, we evaluated transforming growth factor (TGF)-β1-treated human keratinocyte HaCaT cells as an in vitro model of EMT. HaCaT cells were changed into an elongated fibroblast-like morphology, which is indicative of EMT in response to TGF-β1...
February 5, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29322079/fibroblast-and-keratinocyte-gene-expression-following-exposure-to-extracts-of-neem-plant-azadirachta-indica
#5
Takao Someya, Katsura Sano, Kotaro Hara, Yoshimasa Sagane, Toshihiro Watanabe, R G S Wijesekara
This data article provides gene expression profiles, determined by using real-time PCR, of fibroblasts and keratinocytes treated with 0.01% and 0.001% extracts of neem plant (Azadirachta indica), local name "Kohomba" in Sri Lanka, harvested in Sri Lanka. For fibroblasts, the dataset includes expression profiles for genes encoding hyaluronan synthase 1 (HAS1), hyaluronan synthase 2 (HAS2), hyaluronidase-1 (HYAL1), hyaluronidase-2 (HYAL2), versican, aggrecan, CD44, collagen, type I, alpha 1 (COL1A1), collagen, type III, alpha 1 (COL3A1), collagen, type VII, alpha 1 (COL7A1), matrix metalloproteinase 1 (MMP1), acid ceramidase, basic fibroblast growth factor (bFGF), fibroblast growth factor-7 (FGF7), vascular endothelial growth factor (VEGF), interleukin-1 alpha (IL-1α), cyclooxygenase-2 (cox2), transforming growth factor beta (TGF-β), and aquaporin 3 (AQP3)...
February 2018: Data in Brief
https://www.readbyqxmd.com/read/29020941/fine-mapping-of-a-qtl-affecting-levels-of-skatole-on-pig-chromosome-7
#6
Maren van Son, Matthew P Kent, Harald Grove, Rahul Agarwal, Hanne Hamland, Sigbjørn Lien, Eli Grindflek
BACKGROUND: Previous studies in the Norwegian pig breeds Landrace and Duroc have revealed a QTL for levels of skatole located in the region 74.7-80.5 Mb on SSC7. Skatole is one of the main components causing boar taint, which gives an undesirable smell and taste to the pig meat when heated. Surgical castration of boars is a common practice to reduce the risk of boar taint, however, a selection for boars genetically predisposed for low levels of taint would help eliminating the need for castration and be advantageous for both economic and welfare reasons...
October 11, 2017: BMC Genetics
https://www.readbyqxmd.com/read/28940785/transglutaminases-in-autoimmune-and-inherited-skin-diseases-the-phenomena-of-epitope-spreading-and-functional-compensation
#7
REVIEW
Sarolta Kárpáti, Miklós Sárdy, Krisztián Németh, Balázs Mayer, Neil Smyth, Mats Paulsson, Heiko Traupe
Transglutaminases (TGs) are structurally and functionally related enzymes that modify the post-translational structure and activity of proteins or peptides, and thus are able to turn on or switch off their function. Depending on location and activities, TGs are able to modify the signalling, the function and the fate of cells and extracellular connective tissues. Besides mouse models, human diseases enable us to appreciate the function of various TGs. In this study, skin diseases induced by genetic damages or autoimmune targeting of these enzymes will be discussed...
September 23, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28747283/a-case-of-lamellar-ichthyosis-due-to-a-novel-tgm1-mutation-associated-with-parkinson-s-disease
#8
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
https://www.readbyqxmd.com/read/28638141/al-mena-a-comprehensive-resource-of-human-genetic-variants-integrating-genomes-and-exomes-from-arab-middle-eastern-and-north-african-populations
#9
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...
October 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28472103/tgm1-like-transglutaminases-in-tilapia-oreochromis-mossambicus
#10
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
https://www.readbyqxmd.com/read/28403434/expanding-the-genotypic-spectrum-of-bathing-suit-ichthyosis
#11
MULTICENTER STUDY
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
https://www.readbyqxmd.com/read/28289145/interferon-regulatory-factor-6-promotes-keratinocyte-differentiation-in-response-to-porphyromonas-gingivalis
#12
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
https://www.readbyqxmd.com/read/28248968/genomic-variants-reveal-differential-evolutionary-constraints-on-human-transglutaminases-and-point-towards-unrecognized-significance-of-transglutaminase-2
#13
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
https://www.readbyqxmd.com/read/28236338/summary-of-mutations-underlying-autosomal-recessive-congenital-ichthyoses-arci-in-arabs-with-four-novel-mutations-in-arci-related-genes-from-the-united-arab-emirates
#14
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...
May 2017: International Journal of Dermatology
https://www.readbyqxmd.com/read/28004780/adam17-egfr-axis-promotes-transglutaminase-dependent-skin-barrier-formation-through-phosholipase-c-%C3%AE-1-and-protein-kinase-c-pathways
#15
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
https://www.readbyqxmd.com/read/27667567/a-novel-regulatory-relationship-between-ripk4-and-elf3-in-keratinocytes
#16
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
https://www.readbyqxmd.com/read/27660242/tissue-transglutaminase-1-promotes-stemness-and-chemoresistance-in-gastric-cancer-cells-by-regulating-wnt-%C3%AE-catenin-signaling
#17
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
https://www.readbyqxmd.com/read/27442430/activation-of-molecular-signatures-for-antimicrobial-and-innate-defense-responses-in-skin-with-transglutaminase-1-deficiency
#18
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
https://www.readbyqxmd.com/read/27423780/hif-1-dependent-tgm1-expression-is-associated-with-maintenance-of-airway-epithelial-junction-proteins
#19
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
https://www.readbyqxmd.com/read/27418529/proteomic-analysis-of-loricrin-knockout-mouse-epidermis
#20
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
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