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https://www.readbyqxmd.com/read/29165300/foxi2-a-possible-gene-contributing-to-ectodermal-dysplasia
#1
Mazen Kurban, Savo Bou Zeineddine, Lamiaa Hamie, Remi Safi, Ossama Abbas, Abdul Ghani Kibbi, Fadi Bitar, Georges Nemer
Cardio-facio-cutaneous syndrome (CFC), Noonan syndrome (NS), and Costello syndrome are a group of diseases that belong to the RASopathies. The syndromes share clinical features making diagnosis a challenge. To investigate the phenotype and genotype of a 10-year-old Iraqi girl with overlapping features of CFC, NS, and Costello syndromes, with additional features of ectodermal dysplasia. DNA was examined by exome sequencing and protein expression by immunohistochemistry. Exome sequencing identified a mutation in the SOS1 gene and a de novo deletion in the FOXI2 gene which was neither present in the international databases, nor in 400 chromosomes from the same population...
November 22, 2017: European Journal of Dermatology: EJD
https://www.readbyqxmd.com/read/29160006/kaufman-oculocerebrofacial-syndrome-novel-ube3b-mutations-and-clinical-features-in-four-unrelated-patients
#2
Rüstem Yilmaz, Katalin Szakszon, Anna Altmann, Umut Altunoglu, Leyli Senturk, Marianne McGuire, Olga Calabrese, Suneeta Madan-Khetarpal, Lina Basel-Vanagaite, Guntram Borck
The "blepharophimosis-mental retardation" syndromes (BMRS) consist of a group of clinically and genetically heterogeneous congenital malformation syndromes, where short palpebral fissures and intellectual disability associate with a distinct set of other morphological features. Kaufman oculocerebrofacial syndrome represents a rare and recently reevaluated entity within the BMR syndromes and is caused by biallelic mutations of UBE3B. Affected individuals typically show microcephaly, impaired somatic growth, gastrointestinal and genitourinary problems, ectodermal anomalies and a characteristic face with short, upslanted palpebral fissures, depressed nasal bridge...
November 21, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29155098/orai1-mutations-abolishing-store-operated-ca-2-entry-cause-anhidrotic-ectodermal-dysplasia-with-immunodeficiency-eda-id
#3
Jayson Lian, Mario Cuk, Sascha Kahlfuss, Lina Kozhaya, Martin Vaeth, Frédéric Rieux-Laucat, Capucine Picard, Melina J Benson, Antonia Jakovcevic, Karmen Bilic, Iva Martinac, Peter Stathopulos, Imre Kacskovics, Thomas Vraetz, Carsten Speckmann, Stephan Ehl, Thomas Issekutz, Derya Unutmaz, Stefan Feske
BACKGROUND: Store-operated Ca(2+) entry (SOCE) through Ca(2+) release-activated Ca(2+) (CRAC) channels is an essential signaling pathway in many cell types. CRAC channels are formed by ORAI1, ORAI2 and ORAI3 proteins and activated by stromal interaction molecule 1 (STIM1) and STIM2. Mutations in ORAI1 and STIM1 genes that abolish SOCE cause a combined immunodeficiency (CID) syndrome that is accompanied by autoimmunity and non-immunological symptoms. OBJECTIVE: Molecular and immunological analysis of patients with CID, anhidrosis and ectodermal dysplasia of unknown etiology...
November 15, 2017: Journal of Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29154149/rar%C3%AE-2-dependent-signaling-represses-neuronal-differentiation-in-mouse-es-cells
#4
Sri L Kona, Amita Shrestha, Xiaoping Yi, Serenthia Joseph, Humberto Munoz Barona, Eduardo Martinez-Ceballos
Embryonic Stem (ES) cells are pluripotent cells that can be induced to differentiate into cells of all three lineages: mesoderm, endoderm, and ectoderm. In culture, ES cells can be differentiated into mature neurons by treatment with Retinoic Acid (RA) and this effect is mediated mainly through the activation of the RA nuclear receptors (RAR α, β, and γ), and their isoforms. However, little is known about the role played by specific RAR types on ES cell differentiation. Here, we found that treatment of ES cells with AC55649, an RARβ2 agonist, increased endodermal marker gene expression...
November 10, 2017: Differentiation; Research in Biological Diversity
https://www.readbyqxmd.com/read/29150834/il-22-neutralizing-autoantibodies-impair-fungal-clearance-in-murine-oropharyngeal-candidiasis-model
#5
Rudolf Bichele, Jaanika Kärner, Kai Truusalu, Imbi Smidt, Reet Mändar, Heather R Conti, Sarah L Gaffen, Pärt Peterson, Martti Laan, Kai Kisand
Protection against mucocutaneous candidiasis depends on the T helper (Th)17 pathway, as gene defects affecting its integrity result in inability to clear Candida albicans infection on body surfaces. Moreover, autoantibodies neutralizing Th17 cytokines have been related to chronic candidiasis in a rare inherited disorder called autoimmune polyendocriopathy candidiasis ectodermal dystrophy (APECED) caused by mutations in autoimmune regulator (AIRE) gene. However, the direct pathogenicity of these autoantibodies has not yet been addressed...
November 17, 2017: European Journal of Immunology
https://www.readbyqxmd.com/read/29150614/spatial-regulation-of-contractility-by-neuralized-and-bearded-during-furrow-invagination-in-drosophila
#6
Gantas Perez-Mockus, Khalil Mazouni, Vanessa Roca, Giulia Corradi, Vito Conte, François Schweisguth
Embryo-scale morphogenesis arises from patterned mechanical forces. During Drosophila gastrulation, actomyosin contractility drives apical constriction in ventral cells, leading to furrow formation and mesoderm invagination. It remains unclear whether and how mechanical properties of the ectoderm influence this process. Here, we show that Neuralized (Neur), an E3 ubiquitin ligase active in the mesoderm, regulates collective apical constriction and furrow formation. Conversely, the Bearded (Brd) proteins antagonize maternal Neur and lower medial-apical contractility in the ectoderm: in Brd-mutant embryos, the ventral furrow invaginates properly but rapidly unfolds as medial MyoII levels increase in the ectoderm...
November 17, 2017: Nature Communications
https://www.readbyqxmd.com/read/29150132/prosthodontic-rehabilitation-with-monolithic-multichromatic-cad-cam-complete-overdentures-in-an-adolescent-patient-with-ectodermal-dysplasia-a-clinical-report
#7
Hussain D Alsayed, Nasser M Alqahtani, Yasmin M Alzayer, Dean Morton, John A Levon, Nadim Z Baba
Ectodermal dysplasia is a rare, hereditary, congenital disease that affects the normal development of certain tissues and structures of ectodermal origin. The disease is manifested to different degrees of severity and may involve the nose, eyes, hair, nails, sweat glands, and enamel. This report describes a 14-year-old boy with ectodermal dysplasia, rehabilitated with monolithic, multichromatic maxillary and mandibular computer-aided design and computer-aided manufacturing (CAD-CAM) acrylic resin complete overdentures...
November 15, 2017: Journal of Prosthetic Dentistry
https://www.readbyqxmd.com/read/29142255/a-nonredundant-role-for-the-trpm6-channel-in-neural-tube-closure
#8
Yuko Komiya, Zhiyong Bai, Na Cai, Liping Lou, Namariq Al-Saadi, Courtney Mezzacappa, Raymond Habas, Loren W Runnels
In humans, germline mutations in Trpm6 cause autosomal dominant hypomagnesemia with secondary hypocalcemia disorder. Loss of Trpm6 in mice also perturbs cellular magnesium homeostasis but additionally results in early embryonic lethality and neural tube closure defects. To define the mechanisms by which TRPM6 influences neural tube closure, we functionally characterized the role of TRPM6 during early embryogenesis in Xenopus laevis. The expression of Xenopus TRPM6 (XTRPM6) is elevated at the onset of gastrulation and is concentrated in the lateral mesoderm and ectoderm at the neurula stage...
November 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/29139539/an-empirical-model-of-onecut-binding-activity-at-the-sea-urchin-sm50-c-element-gene-regulatory-region
#9
Ochan Otim
Studying the formation of endoskeleton in many species is complex and difficult. The sea urchin embryo offers an unparalleled platform for understanding this process because of the ease with which its skeletogenic mesenchyme cells can be manipulated. In this study, preliminary evidence from biochemical studies towards understanding the role of the Onecut transcription factor during sea urchin skeletogenic mesenchyme cell specification is presented. Based on the evidence, an empirical model is proposed showing how Onecut, together with associated co-factors, may be using the C-element of the SM50 gene regulatory region in advance of the sea urchin Strongylocentrotus purpuratus spicule development...
2017: International Journal of Developmental Biology
https://www.readbyqxmd.com/read/29138651/melanotic-neuroectodermal-tumor-of-infancy-a-rare-presentation-of-an-extremely-rare-neoplasm-and-diagnostic-implications-in-gombe-nigeria
#10
Babatunde Oludare Fakuade, Joshua Biodun Adeoye
Melanotic neuro-ectodermal tumor of infancy is very rare. A unique neoplasm of the formative years, it typically involves the face or cranium; possesses rapid, expansile growth; presents as a firm swelling and displays a high rate of recurrence. Its rarity and unique features make diagnosis and management quite challenging. This challenge is increased in resource-limited settings like ours and with atypical presentation, such as was seen at our center, where patient presented with a bony hard swelling.
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/29137597/reduction-of-pluripotent-gene-expression-in-murine-embryonic-stem-cells-exposed-to-mechanical-loading-or-cyclo-rgd-peptide
#11
Olesja Hazenbiller, Neil A Duncan, Roman J Krawetz
BACKGROUND: Self-renewal and differentiation of embryonic stem cells (ESCs) is directed by biological and/or physical cues that regulate multiple signaling cascades. We have previously shown that mESCs seeded in a type I collagen matrix demonstrate a loss of pluripotent marker expression and differentiate towards an osteogenic lineage. In this study, we examined if this effect was mediated in part through Arginylglycylaspartic acid (RGD) dependent integrin activity and/or mechano-transduction...
November 14, 2017: BMC Cell Biology
https://www.readbyqxmd.com/read/29134781/clinical-and-molecular-genetic-characterization-of-a-male-patient-with-sensenbrenner-syndrome-cranioectodermal-dysplasia-and-biallelic-wdr35-mutations
#12
Joanna Walczak-Sztulpa, Anna Wawrocka, Anna Swiader-Lesniak, Magdalena Socha, Aleksander Jamsheer, Dorota Drozdz, Anna Latos-Bielenska, Katarzyna Zachwieja
BACKGROUND: Sensenbrenner syndrome (cranioectodermal dysplasia, CED) is a very rare autosomal recessive ciliopathy first described by Judith Sensenbrenner in 1975. CED is a complex disorder characterized by craniofacial, skeletal, and ectodermal abnormalities. The clinical symptoms are variable and the CED phenotype may present intrafamilial and interfamilial differences. Sensenbrenner syndrome belongs to a group of ciliary chondrodysplasias and is a genetically heterogeneous disease...
November 14, 2017: Birth defects research
https://www.readbyqxmd.com/read/29133394/role-of-estrogen-receptor-beta-in-neural-differentiation-of-mouse-embryonic-stem-cells
#13
Mukesh K Varshney, José Inzunza, Diana Lupu, Vaidheeswaran Ganapathy, Per Antonson, Joëlle Rüegg, Ivan Nalvarte, Jan-Åke Gustafsson
The ability to propagate mature cells and tissue from pluripotent stem cells offers enormous promise for treating many diseases, including neurodegenerative diseases. Before such cells can be used successfully in neurodegenerative diseases without causing unwanted cell growth and migration, genes regulating growth and migration of neural stem cells need to be well characterized. Estrogen receptor beta (ERβ) is essential for migration of neurons and glial cells in the developing mouse brain. To examine whether ERβ influences differentiation of mouse embryonic stem cells (mESC) into neural lineages, we compared control and ERβ knockout (BERKO) mESCs at defined stages of neural development and examined the effects of an ERβ-selective ligand (LY3201) with a combination of global and targeted gene-expression profiling and the expression of key pluripotency markers...
November 13, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29130604/expanding-the-phenotypic-spectrum-of-tp63-related-disorders-including-the-first-set-of-monozygotic-twins
#14
Tara Wenger, Dong Li, Margaret H Harr, Wen-Hann Tan, Renata Pellegrino, Zornitza Stark, Hakon Hakonarson, Elizabeth J Bhoj
Individuals with Tumor Protein P63 (TP63)-related disorders are known to present with a range of phenotypic features, including ectrodactyly, ectodermal dysplasia, cleft lip/palate, Rapp-Hodgkin, Hay-Wells, and limb-mammary syndromes. We present six individuals from three families, including a set of monozygotic twins, with pathogenic TP63 variants who had novel clinical findings. The twins were discordant for cleft lip and palate, and the type of hand malformations, but concordant for choanal atresia, and bilateral volar nail...
November 12, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29129473/dominant-negative-loss-of-function-arises-from-a-second-more-frequent-variant-within-the-sand-domain-of-autoimmune-regulator-aire
#15
Jordan K Abbott, Yu-San Huoh, Paul R Reynolds, Liping Yu, Marian Rewers, Monica Reddy, Mark S Anderson, Sun Hur, Erwin W Gelfand
A genetic variant in the SAND domain of autoimmune regulator (AIRE), R247C, was identified in a patient with type I diabetes mellitus (T1DM) and his mother with rheumatoid arthritis. In vitro, the variant dominantly inhibited AIRE; however, typical features of Autoimmune Polyendocrinopathy Candidiasis and Ectodermal Dysplasia (APECED) were not seen in the subjects. Rather, early manifestation of autoimmunity appeared to be dependent on additional genetic factors. On a population level, diverse variants were identified in this region...
November 9, 2017: Journal of Autoimmunity
https://www.readbyqxmd.com/read/29128367/nemo-links-nuclear-factor-%C3%AE%C2%BAb-to-human-diseases
#16
REVIEW
Gunter Maubach, Michael Naumann
The nuclear factor (NF)-κB essential modulator (NEMO) is a key regulator in NF-κB-mediated signaling. By transmitting extracellular or intracellular signals, NEMO can control NF-κB-regulated genes. NEMO dysfunction is associated with inherited diseases such as incontinentia pigmenti (IP), ectodermal dysplasia, anhidrotic, with immunodeficiency (EDA-ID), and some cancers. We focus on molecular studies, human case reports, and mouse models emphasizing the significance of NEMO molecular interactions and modifications in health and diseases...
November 8, 2017: Trends in Molecular Medicine
https://www.readbyqxmd.com/read/29113748/roles-for-xenopus-aquaporin-3b-aqp3-l-during-gastrulation-fibrillar-fibronectin-and-tissue-boundary-establishment-in-the-dorsal-margin
#17
Jennifer Forecki, Daniel J Van Antwerp, Sean M Lujan, Christa S Merzdorf
Aquaporins and aquaglyceroporins are a large family of membrane channel proteins that allow rapid movement of water and small, uncharged solutes into and out of cells along concentration gradients. Recently, aquaporins have been gaining recognition for more complex biological roles than the regulation of cellular osmotic homeostasis. We have identified a specific expression pattern for Xenopus aqp3b (also called aqp3.L) during gastrulation, where it is localized to the sensorial (deep) layer of the blastocoel roof and dorsal margin...
November 4, 2017: Developmental Biology
https://www.readbyqxmd.com/read/29106399/a-microrna-screen-reveals-that-elevated-hepatic-ectodysplasin-a-expression-contributes-to-obesity-induced-insulin-resistance-in-skeletal-muscle
#18
Motoharu Awazawa, Paula Gabel, Eva Tsaousidou, Hendrik Nolte, Marcus Krüger, Joel Schmitz, P Justus Ackermann, Claus Brandt, Janine Altmüller, Susanne Motameny, F Thomas Wunderlich, Jan-Wilhelm Kornfeld, Matthias Blüher, Jens C Brüning
Over 40% of microRNAs (miRNAs) are located in introns of protein-coding genes, and many of these intronic miRNAs are co-regulated with their host genes. In such cases of co-regulation, the products of host genes and their intronic miRNAs can cooperate to coordinately regulate biologically important pathways. Therefore, we screened intronic miRNAs dysregulated in the livers of mouse models of obesity to identify previously uncharacterized protein-coding host genes that may contribute to the pathogenesis of obesity-associated insulin resistance and type 2 diabetes mellitus...
November 6, 2017: Nature Medicine
https://www.readbyqxmd.com/read/29106072/regulation-of-continuous-but-complex-expression-pattern-of-six1-during-early-sensory-development
#19
Shigeru Sato, Yasuhide Furuta, Kiyoshi Kawakami
BACKGROUND: In vertebrates, cranial sensory placodes give rise to neurosensory and endocrine structures such as the olfactory epithelium, inner ear and anterior pituitary. We report here the establishment of a transgenic mouse line that expresses Cre recombinase under the control of Six1-21, a major placodal enhancer of the homeobox gene Six1. RESULTS: In the new Cre-expressing line, mSix1-21-NLSCre, the earliest Cre-mediated recombination was induced at embryonic day 8...
November 6, 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/29105388/in-vitro-differentiation-of-neural-like-cells-from-human-embryonic-stem-cells-by-a-combination-of-dorsomorphin-xav939-and-a8301
#20
Zahra Valizadeh-Arshad, Ebrahim Shahbazi, Shiva Hashemizadeh, Azadeh Moradmand, Meyssam Jangkhah, Sahar Kiani
OBJECTIVES: Motor neuron differentiation from human embryonic stem cells (hESCs) is a goal of regenerative medicine to provide cell therapy as treatments for diseases that damage motor neurons. Most protocols lack adequate efficiency in generating functional motor neurons. However, small molecules present a new approach to overcome this challenge. The aim of this research is to replace morphogen factors with a cocktail of efficient, affordable small molecules for effective, low cost motor neuron differentiation...
January 2018: Cell Journal
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