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https://www.readbyqxmd.com/read/28222032/unexplained-cyanosis-caused-by-hepatopulmonary-syndrome-in-a-girl-with-apeced-syndrome
#1
Fatih Celmeli, Abdullah Kocabas, Ishak A Isik, Mesut Parlak, Kai Kisand, Serdar Ceylaner, Doga Turkkahraman
Autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED) is a rare but devastating primary immunodeficiency disease caused by loss-of-function mutations in autoimmune regulator (AIRE) gene on chromosome 21q22.3. The clinical spectrum of the disease is characterized by a wide heterogeneity because of autoimmune reactions toward different endocrine and non-endocrine organs. Here, we report a 17-year-old Turkish girl diagnosed with APECED at 9 years in whom a novel homozygote mutation in AIRE gene p...
February 21, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28215521/orbital-imaging-manifestations-of-neurocutaneous-syndromes-revisited
#2
REVIEW
Abanti Das, Sanjay Sharma
Neurocutaneous syndromes or phakomatoses represent a heterogeneous group of multisystemic disorders involving structures of ectodermal origin. Characteristic ocular manifestations are described for individual entities that are often the first clues to the underlying diagnosis. However, opaque ocular media or involvement of retrobulbar orbit limits adequate clinical evaluation. This underlines the role of imaging, especially cross-sectional imaging modalities, such as computed tomography and magnetic resonance imaging, which offer a comprehensive evaluation of orbit and its contents...
December 30, 2016: Current Problems in Diagnostic Radiology
https://www.readbyqxmd.com/read/28211980/constitutional-bone-impairment-in-noonan-syndrome
#3
Giuseppina Baldassarre, Alessandro Mussa, Diana Carli, Cristina Molinatto, Giovanni Battista Ferrero
Noonan syndrome (NS) is an autosomal dominant trait characterized by genotypic and phenotypic variability. It belongs to the Ras/MAPK pathway disorders collectively named Rasopathies or neurocardiofaciocutaneous syndromes. Phenotype is characterized by short stature, congenital heart defects, facial dysmorphisms, skeletal and ectodermal anomalies, cryptorchidism, mild to moderate developmental delay/learning disability, and tumor predisposition. Short stature and skeletal dysmorphisms are almost constant and several studies hypothesized a role for the RAS pathway in regulating bone metabolism...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28208056/oral-rehabilitation-of-a-patient-with-ectodermal-dysplasia-treated-with-fresh-frozen-bone-allografts-and-computer-guided-implant-placement-a-clinical-case-report
#4
Carlo Maiorana, Pier Paolo Poli, Carlo Poggio, Paola Barbieri, Mario Beretta
Ectodermal dysplasia (ED) is an inherited disorder characterized by abnormality of ectodermally derived structures. A recurrent oral finding is oligodontia, which in turn leads to a severely hypotrophic alveolar process with typical knife-edge morphology and adverse ridge contours. This unfavorable anatomy can seriously hamper proper implant placement. Fresh-frozen bone (FFB) allografts recently have been proposed to augment the residual bone volume for implant placement purposes; however, scientific evidence concerning the use of FFB to treat ED patients is absent...
January 20, 2017: Journal of Oral and Maxillofacial Surgery
https://www.readbyqxmd.com/read/28202025/mild-electrical-stimulation-with-heat-shock-guides-differentiation-of-embryonic-stem-cells-into-pdx1-expressing-cells-within-the-definitive-endoderm
#5
Tomoaki Koga, Nobuaki Shiraki, Shuichiro Yano, Mary Ann Suico, Saori Morino-Koga, Takashi Sato, Tsuyoshi Shuto, Shoen Kume, Hirofumi Kai
BACKGROUND: Because of the increasing number of diabetic patients, it is important to generate pancreatic and duodenal homeobox gene 1 (Pdx1)-expressing cells, which are capable of differentiating into pancreatic endocrine β cells. Mild electrical stimulation was reported to modulate the differentiation of ES cells into ectoderm-derived neuronal cells or mesoderm-derived cardiac cells. RESULTS: In this study, we report that mild electrical stimulation with heat shock (MET) potentiates the differentiation of ES cells into definitive endoderm-derived Pdx1-expressing cells...
February 15, 2017: BMC Biotechnology
https://www.readbyqxmd.com/read/28193178/nodal-and-bmp-expression-during-the-transition-to-pentamery-in-the-sea-urchin-heliocidaris-erythrogramma-insights-into-patterning-the-enigmatic-echinoderm-body-plan
#6
Demian Koop, Paula Cisternas, Valerie B Morris, Dario Strbenac, Jean Yee Hwa Yang, Gregory A Wray, Maria Byrne
BACKGROUND: The molecular mechanisms underlying the development of the unusual echinoderm pentameral body plan and their likeness to mechanisms underlying the development of the bilateral plans of other deuterostomes are of interest in tracing body plan evolution. In this first study of the spatial expression of genes associated with Nodal and BMP2/4 signalling during the transition to pentamery in sea urchins, we investigate Heliocidaris erythrogramma, a species that provides access to the developing adult rudiment within days of fertilization...
February 13, 2017: BMC Developmental Biology
https://www.readbyqxmd.com/read/28192468/matrix-metalloproteinases-are-required-for-membrane-motility-and-lumenogenesis-during-drosophila-heart-development
#7
Qanber S Raza, Jessica L Vanderploeg, J Roger Jacobs
Matrix Metalloproteinases (Mmps) degrade glycoproteins and proteoglycans of the extracellular matrix (ECM) or cell surface and are crucial for morphogenesis. Mmps and their inhibitors are expressed during early stages of cardiac development in vertebrates and expression is altered in multiple congenital cardiomyopathies such as cardia bifida. Drosophila genome encodes two copies of Mmps, Mmp1 and Mmp2 whereas in humans up to 25 Mmps have been identified with overlapping functions. We investigated the role of Mmps during embryonic heart development in Drosophila, a process which is morphogenetically similar to early heart tube formation in vertebrates...
2017: PloS One
https://www.readbyqxmd.com/read/28192166/detailed-expression-profile-of-the-six-glypicans-and-their-modifying-enzyme-notum-during-chick-limb-and-feather-development
#8
Kawakeb Saad, Susanne Theis, Anthony Otto, Graham Luke, Ketan Patel
The development of vertebrate appendages, especially the limb and feather buds are orchestrated by numerous secreted signalling molecules including Sonic Hedgehog, Bone Morphogenetic Proteins, Fibroblast Growth Factors and Wnts. These proteins coordinate the growth and patterning of ectodermal and mesenchymal cells. The influence of signalling molecules is affected over large distances by their concentration (morphogen activity) but also at local levels by the presence of proteins that either attenuate or promote their activity...
February 10, 2017: Gene
https://www.readbyqxmd.com/read/28190727/the-origin-of-vertebrate-gills
#9
J Andrew Gillis, Olivia R A Tidswell
Pharyngeal gills are a fundamental feature of the vertebrate body plan [1]. However, the evolutionary history of vertebrate gills has been the subject of a long-standing controversy [2-8]. It is thought that gills evolved independently in cyclostomes (jawless vertebrates-lampreys and hagfish) and gnathostomes (jawed vertebrates-cartilaginous and bony fishes), based on their distinct embryonic origins: the gills of cyclostomes derive from endoderm [9-12], while gnathostome gills were classically thought to derive from ectoderm [10, 13]...
February 3, 2017: Current Biology: CB
https://www.readbyqxmd.com/read/28188605/-cancer-and-mycoses-and-literature-review
#10
M Develoux
Various infectious agents are classical risk factors for cancer including bacteria, viruses and parasites. There is less evidence concerning the implication of fungal infection in carcinogenesis. The role of chronic Candida infection in the development of squamous cell carcinoma has been suspected for years. Candida sp are more prevalent in potentially malignant disorder and cancer of the oral mucosa. Other epidemiological evidence of a link between Candida infection and cancer is what is observed in patients with Autoimmune Polyendocrinopathy Candidiasis Ectodermal Dystrophy (APECED)...
February 11, 2017: Bulletin de la Société de Pathologie Exotique
https://www.readbyqxmd.com/read/28186679/directed-differentiation-of-human-embryonic-stem-cells-toward-placode-derived-spiral-ganglion-like-sensory-neurons
#11
Akihiro J Matsuoka, Zachery D Morrissey, Chaoying Zhang, Kazuaki Homma, Abdelhak Belmadani, Charles A Miller, Duncan M Chadly, Shun Kobayashi, Alexandra N Edelbrock, Miho Tanaka-Matakatsu, Donna S Whitlon, Ljuba Lyass, Tammy L McGuire, Samuel I Stupp, John A Kessler
The ability to generate spiral ganglion neurons (SGNs) from stem cells is a necessary prerequisite for development of cell-replacement therapies for sensorineural hearing loss. We present a protocol that directs human embryonic stem cells (hESCs) toward a purified population of otic neuronal progenitors (ONPs) and SGN-like cells. Between 82% and 95% of these cells express SGN molecular markers, they preferentially extend neurites to the cochlear nucleus rather than nonauditory nuclei, and they generate action potentials...
December 10, 2016: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28180024/ciliopathies-genetics-in-pediatric-medicine
#12
REVIEW
Machteld M Oud, Ideke J C Lamers, Heleen H Arts
Ciliary disorders, which are also referred to as ciliopathies, are a group of hereditary disorders that result from dysfunctional cilia. The latter are cellular organelles that stick up from the apical plasma membrane. Cilia have important roles in signal transduction and facilitate communications between cells and their surroundings. Ciliary disruption can result in a wide variety of clinically and genetically heterogeneous disorders with overlapping phenotypes. Because cilia occur widespread in our bodies many organs and sensory systems can be affected when they are dysfunctional...
March 2017: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/28176817/structural-insights-into-human-angiogenin-variants-implicated-in-parkinson-s-disease-and-amyotrophic-lateral-sclerosis
#13
William J Bradshaw, Saima Rehman, Tram T K Pham, Nethaji Thiyagarajan, Rebecca L Lee, Vasanta Subramanian, K Ravi Acharya
Mutations in Angiogenin (ANG), a member of the Ribonuclease A superfamily (also known as RNase 5) are known to be associated with Amyotrophic Lateral Sclerosis (ALS, motor neurone disease) (sporadic and familial) and Parkinson's Disease (PD). In our previous studies we have shown that ANG is expressed in neurons during neuro-ectodermal differentiation, and that it has both neurotrophic and neuroprotective functions. In addition, in an extensive study on selective ANG-ALS variants we correlated the structural changes to the effects on neuronal survival and the ability to induce stress granules in neuronal cell lines...
February 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28174673/enhanced-adipogenic-differentiation-of-human-adipose-derived-stem-cells-in-an-in-vitro-microenvironment-the-preparation-of-adipose-like-microtissues-using-a-three-dimensional-culture
#14
Yoshitaka Miyamoto, Masashi Ikeuchi, Hirofumi Noguchi, Tohru Yagi, Shuji Hayashi
The application of stem cells for cell therapy has been extensively studied in recent years. Among the various types of stem cells, human adipose tissue-derived stem cells (ASCs) can be obtained in large quantities with relatively few passages, and they possess a stable quality. ASCs can differentiate into a number of cell types, such as adipose cells and ectodermal cells. We therefore focused on the in vitro microenvironment required for such differentiation and attempted to induce the differentiation of human stem cells into microtissues using a microelectromechanical system...
January 8, 2017: Cell Medicine
https://www.readbyqxmd.com/read/28166087/genitourinary-malformations-an-under-recognized-feature-of-ectrodactyly-ectodermal-dysplasia-and-cleft-lip-palate-syndrome
#15
Zerin Hyder, Victoria Beale, Ruth O'Connor, Jill Clayton-Smith
The ectodermal dysplasia and cleft lip/palate (EEC) syndrome describes the association of ectrodactyly, ectodermal dysplasia and orofacial clefting. As with many autosomal dominant disorders, there is variability in expression and not all of these three core features are present in every individual with the condition. Moreover, there may be additional associated features, which are under-recognized. One of these is the presence of genitourinary anomalies, some of which cause significant morbidity. This report details a further two patients with EEC syndrome and genitourinary involvement, including flaccid megacystis with detrusor muscle failure, bilateral hydronephrosis and megaureter, requiring significant renal and urological involvement during their childhood...
February 3, 2017: Clinical Dysmorphology
https://www.readbyqxmd.com/read/28148216/histone-h3-lysine-27-trimethylation-leads-to-loss-of-mesendodermal-competence-during-gastrulation-in-zebrafish-ectodermal-cells
#16
Taishi Shiomi, Akihiko Muto, Shunya Hozumi, Hiroshi Kimura, Yutaka Kikuchi
Previous studies in Xenopus have shown that forced expression of Nodal signaling can change ectodermal cells to a mesodermal fate by the early gastrula stage, suggesting mesodermal competence in early ectoderm cells. This mesodermal competence in ectodermal cells has been shown to be regulated at the level of nucleocytoplasmic localization of Smad2 in Xenopus. However, the regulation of mesodermal competence through epigenetic mechanisms has not been fully elucidated. Here, we used a constitutively active form of zebrafish Smad2 (Smad2ca) to overcome the inhibition of Nodal signaling via the nuclear exclusion of Smad2...
February 2017: Zoological Science
https://www.readbyqxmd.com/read/28138731/-sack-of-marbles-in-mature-cystic-ovarian-teratoma
#17
REVIEW
K H Lee
Mature ovarian cystic teratoma (also known as ovarian dermoid cyst) is a slow growing encapsulated tumor which contains well differentiated derivations of at least two out of three germ cell layers (i.e., ectoderm, mesoderm and endoderm). The lesion is lined by ectodermally derived squamous epithelium containing skin appendages. The cyst content commonly consists of keratin, sebaceous materials and fat. On CT images, the intracystic globules of sebum/fat could appear as multiple free floating rounde hypoattenuating nodules, giving the classical 'sack-of-marbles' appearance...
January 30, 2017: Abdominal Radiology
https://www.readbyqxmd.com/read/28137975/establishing-and-maintaining-primary-cell-cultures-derived-from-the-ctenophore-mnemiopsis-leidyi
#18
Lauren E Vandepas, Kaitlyn J Warren, Chris T Amemiya, William E Browne
We have developed an efficient method for the preparation and maintenance of primary cell cultures isolated from adult Mnemiopsis leidyi, a lobate ctenophore. Our primary cell cultures are derived from tissue explants or enzymatically-dissociated cells, and maintained in a complex undefined ctenophore mesogleal serum. These methods can be used to isolate, maintain, and visually monitor ctenophore cells to assess proliferation, cellular morphology, and cell differentiation in future studies. Exemplar cell types that can be easily isolated from primary cultures include proliferative ectodermal and endodermal cells, motile amebocyte-like cells, and giant smooth muscle cells that exhibit inducible contractile properties...
January 30, 2017: Journal of Experimental Biology
https://www.readbyqxmd.com/read/28135237/the-eed-protein-protein-interaction-inhibitor-a-395-inactivates-the-prc2-complex
#19
Yupeng He, Sujatha Selvaraju, Michael L Curtin, Clarissa G Jakob, Haizhong Zhu, Kenneth M Comess, Bailin Shaw, Juliana The, Evelyne Lima-Fernandes, Magdalena M Szewczyk, Dong Cheng, Kelly L Klinge, Huan-Qiu Li, Marina Pliushchev, Mikkel A Algire, David Maag, Jun Guo, Justin Dietrich, Sanjay C Panchal, Andrew M Petros, Ramzi F Sweis, Maricel Torrent, Lance J Bigelow, Guillermo Senisterra, Fengling Li, Steven Kennedy, Qin Wu, Donald J Osterling, David J Lindley, Wenqing Gao, Scott Galasinski, Dalia Barsyte-Lovejoy, Masoud Vedadi, Fritz G Buchanan, Cheryl H Arrowsmith, Gary G Chiang, Chaohong Sun, William N Pappano
Polycomb repressive complex 2 (PRC2) is a regulator of epigenetic states required for development and homeostasis. PRC2 trimethylates histone H3 at lysine 27 (H3K27me3), which leads to gene silencing, and is dysregulated in many cancers. The embryonic ectoderm development (EED) protein is an essential subunit of PRC2 that has both a scaffolding function and an H3K27me3-binding function. Here we report the identification of A-395, a potent antagonist of the H3K27me3 binding functions of EED. Structural studies demonstrate that A-395 binds to EED in the H3K27me3-binding pocket, thereby preventing allosteric activation of the catalytic activity of PRC2...
January 30, 2017: Nature Chemical Biology
https://www.readbyqxmd.com/read/28132888/differentiation-of-human-induced-pluripotent-stem-cells-to-mammary-like-organoids
#20
Ying Qu, Bingchen Han, Bowen Gao, Shikha Bose, Yiping Gong, Kolja Wawrowsky, Armando E Giuliano, Dhruv Sareen, Xiaojiang Cui
Human induced pluripotent stem cells (iPSCs) can give rise to multiple cell types and hold great promise in regenerative medicine and disease-modeling applications. We have developed a reliable two-step protocol to generate human mammary-like organoids from iPSCs. Non-neural ectoderm-cell-containing spheres, referred to as mEBs, were first differentiated and enriched from iPSCs using MammoCult medium. Gene expression profile analysis suggested that mammary gland function-associated signaling pathways were hallmarks of 10-day differentiated mEBs...
February 14, 2017: Stem Cell Reports
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