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https://www.readbyqxmd.com/read/28329690/tissue-myeloid-progenitors-differentiate-into-pericytes-through-tgf-%C3%AE-signaling-in-developing-skin-vasculature
#1
Tomoko Yamazaki, Ani Nalbandian, Yutaka Uchida, Wenling Li, Thomas D Arnold, Yoshiaki Kubota, Seiji Yamamoto, Masatsugu Ema, Yoh-Suke Mukouyama
Mural cells (pericytes and vascular smooth muscle cells) are essential for the regulation of vascular networks and maintenance of vascular integrity, but their origins are diverse in different tissues and not known in the organs that arise from the ectoderm, such as skin. Here, we show that tissue-localized myeloid progenitors contribute to pericyte development in embryonic skin vasculature. A series of in vivo fate-mapping experiments indicates that tissue myeloid progenitors differentiate into pericytes...
March 21, 2017: Cell Reports
https://www.readbyqxmd.com/read/28324646/from-snapshots-to-movies-understanding-early-tooth-development-in-four-dimensions
#2
Rebecca Kim, Jeremy B A Green, Ophir D Klein
The developing tooth offers a model for the study of ectodermal appendage organogenesis. The signaling networks that regulate tooth development have been intensively investigated, but how cell biological responses to signaling pathways regulate dental morphogenesis remains an open question. The increasing use of ex vivo imaging techniques has enabled live tracking of cell behaviors over time in high resolution. While recent studies using these techniques have improved our understanding of tooth morphogenesis, important gaps remain that require additional investigation...
March 21, 2017: Developmental Dynamics: An Official Publication of the American Association of Anatomists
https://www.readbyqxmd.com/read/28324176/bhlha9-regulates-apical-ectodermal-ridge-formation-during-limb-development
#3
Kensuke Kataoka, Takahide Matsushima, Yoshiaki Ito, Tempei Sato, Shigetoshi Yokoyama, Hiroshi Asahara
Split hand/foot malformation (SHFM) and SHFM combined with long-bone deficiency (SHFLD) are congenital dysgeneses of the limb. Although six different loci/mutations (SHFM1-SHFM6) have been found from studies on families with SHFM, the causes and associated pathogenic mechanisms for a large number of patients remain unidentified. On the basis of the identification of a duplicated gene region involving BHLHA9 in some affected families, BHLHA9 was identified as a novel SHFM/SHFLD-related gene. Although Bhlha9 is predicted to participate in limb development as a transcription factor, its precise function is unclear...
March 21, 2017: Journal of Bone and Mineral Metabolism
https://www.readbyqxmd.com/read/28319640/the-corneal-epithelial-barrier-and-its-developmental-role-in-isolating-corneal-epithelial-and-conjunctival-cells-from-one-another
#4
James K Kubilus, Carolina Zapater I Morales, Thomas F Linsenmayer
Purpose: During development, the corneal epithelium (CE) and the conjunctiva are derived from the surface ectoderm. Here we have examined how, during development, the cells of these two issues become isolated from each other. Methods: Epithelia from the anterior eyes of chicken embryos were labeled with the fluorescent, lipophilic dye, 1,1'-dioctadecyl-3,3,3',3'-tetramethylindocarbocyanine perchlorate (DiI). DiI was placed on the epithelial surface of the developing anterior eye and its diffusion was monitored by fluorescence microscopy...
March 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28318880/highly-conformal-craniospinal-radiotherapy-techniques-can-underdose-the-cranial-clinical-target-volume-if-leptomeningeal-extension-through-skull-base-exit-foramina-is-not-contoured
#5
D J Noble, T Ajithkumar, J Lambert, I Gleeson, M V Williams, S J Jefferies
AIMS: Craniospinal irradiation (CSI) remains a crucial treatment for patients with medulloblastoma. There is uncertainty about how to manage meningeal surfaces and cerebrospinal fluid (CSF) that follows cranial nerves exiting skull base foramina. The purpose of this study was to assess plan quality and dose coverage of posterior cranial fossa foramina with both photon and proton therapy. MATERIALS AND METHODS: We analysed the radiotherapy plans of seven patients treated with CSI for medulloblastoma and primitive neuro-ectodermal tumours and three with ependymoma (total n = 10)...
March 15, 2017: Clinical Oncology: a Journal of the Royal College of Radiologists
https://www.readbyqxmd.com/read/28301459/blepharocheilodontic-syndrome-is-a-cdh1-pathway-related-disorder-due-to-mutations-in-cdh1-and-ctnnd1
#6
Jamal Ghoumid, Morgane Stichelbout, Anne-Sophie Jourdain, Frederic Frenois, Sophie Lejeune-Dumoulin, Marie-Pierre Alex-Cordier, Marine Lebrun, Pierre Guerreschi, Veronique Duquennoy-Martinot, Matthieu Vinchon, Joel Ferri, Matthieu Jung, Serge Vicaire, Clemence Vanlerberghe, Fabienne Escande, Florence Petit, Sylvie Manouvrier-Hanu
PURPOSE: Blepharocheilodontic (BCD) syndrome is a rare autosomal dominant condition characterized by eyelid malformations, cleft lip/palate, and ectodermal dysplasia. The molecular basis of BCD syndrome remains unknown. METHODS: We recruited 11 patients from 8 families and performed exome sequencing for 5 families with de novo BCD syndrome cases and targeted Sanger sequencing in the 3 remaining families. RESULTS: We identified five CDH1 heterozygous missense mutations and three CTNND1 heterozygous truncating mutations leading to loss-of-function or haploinsufficiency...
March 16, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/28299308/malignant-transformation-of-an-intracranial-extradural-epidermoid-cyst-into-squamous-cell-carcinoma-presented-with-cerebrospinal-fluid-leakage
#7
Bahram Seif, Reza Pourkhalili, Ahmad Shekarchizadeh, Parvin Mahzouni
We report a case of malignant transformation of an intracranial extradural epidermoid cyst into squamous cell carcinoma (SCC), that presented with cerebrospinal fluid (CSF) leakage at the time of recurrence. Intracranial epidermoid cysts are histologically benign and slow-growing neoplasms. They are congenital lesions that develop from ectodermal remnants during neuroembryogenesis. Malignant transformation of epidermoid cysts into SCC is very rare. Various clinical presentations of these tumors after malignant transformation are mentioned in the literature...
2017: Advanced Biomedical Research
https://www.readbyqxmd.com/read/28298997/tricho-dento-osseous-syndrome-and-precocious-eruption
#8
Parul Jain, Rahul Kaul, Subrata Saha, Subir Sarkar
Tricho-dento-osseous syndrome (TDO), an uncommon form of ectodermal dysplasia is an autosomal dominant genetic disorder which is characterized by inherited defects in tissues arising from epithelial-mesenchymal interaction. Genetic studies have revealed that it is caused by mutation in the DLX3 gene. TDO presents with a great phenotypic heterogeneity and studies have suggested that this heterogeneity is the result of environmental factors or other genetic modifiers. In this article, we report a case of TDO in which the child had typical clinical features of hair, teeth and bone defects, as seen in TDO...
March 2017: Journal of Clinical and Experimental Dentistry
https://www.readbyqxmd.com/read/28298438/single-cell-analysis-reveals-lineage-segregation-in-early-post-implantation-mouse-embryos
#9
Jing Wen, Yanwu Zeng, Zhuoqing Fang, Junjie Gu, Laixiang Ge, Fan Tang, Zepeng Qu, Jing Hu, Yaru Cui, Kunshan Zhang, Junbang Wang, Siguang Li, Yi Sun, Ying Jin
The mammalian post-implantation embryo has been extensively investigated at the tissue level. However, to unravel the molecular basis for the cell-fate plasticity and determination, it is essential to study the characteristics of individual cells. Especially, the individual definitive endoderm (DE) cells have not been characterized in vivo. Here, we report gene expression patterns in single cells freshly isolated from mouse embryos on days 5.5 and 6.5. Initial transcriptome data from 124 single cells yielded signature genes for the epiblast, visceral endoderm, and extra-embryonic ectoderm and revealed a unique distribution pattern of fibroblast growth factor (Fgf) ligands and receptors...
March 15, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28297138/a-novel-homozygous-missense-mutation-in-hoxc13-leads-to-autosomal-recessive-pure-hair-and-nail-ectodermal-dysplasia
#10
Xiaoxiao Li, Meredith Lee Orseth, J Michael Smith, Mary Abigail Brehm, Nnenna Gebechi Agim, Donald Alexander Glass
Pure hair and nail ectodermal dysplasia (PHNED) is a rare disorder that presents with hypotrichosis and nail dystrophy while sparing other ectodermal structures such as teeth and sweat glands. We describe a homozygous novel missense mutation in the HOXC13 gene that resulted in autosomal recessive PHNED in a Hispanic child. The mutation c.812A>G (p.Gln271Arg) is located within the DNA-binding domain of the HOXC13 gene, cosegregates within the family, and is predicted to be maximally damaging. This is the first reported case of a missense HOXC13 mutation resulting in PHNED and the first reported case of PHNED identified in a North American family...
March 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28295942/gangliosides-structure-biosynthesis-analysis-and-roles-in-cancer
#11
Sophie Groux-Degroote, Yann Guérardel, Philippe Delannoy
Gangliosides are acidic glycosphingolipids containing one or more sialic acid residues. They are essential compounds at the outer leaflet of the plasma membrane where they interact with phospholipids, cholesterol and transmembrane proteins, forming lipid rafts. They are involved in cell adhesion, proliferation and recognition processes, as well as in the modulation of signal transduction pathways. These functions are mainly supported by the glycan moiety and changes in the structure of gangliosides occur under pathological conditions, particularly in neuro-ectoderm-derived cancers...
March 15, 2017: Chembiochem: a European Journal of Chemical Biology
https://www.readbyqxmd.com/read/28293554/sonic-hedgehog-signaling-in-limb-development
#12
REVIEW
Cheryll Tickle, Matthew Towers
The gene encoding the secreted protein Sonic hedgehog (Shh) is expressed in the polarizing region (or zone of polarizing activity), a small group of mesenchyme cells at the posterior margin of the vertebrate limb bud. Detailed analyses have revealed that Shh has the properties of the long sought after polarizing region morphogen that specifies positional values across the antero-posterior axis (e.g., thumb to little finger axis) of the limb. Shh has also been shown to control the width of the limb bud by stimulating mesenchyme cell proliferation and by regulating the antero-posterior length of the apical ectodermal ridge, the signaling region required for limb bud outgrowth and the laying down of structures along the proximo-distal axis (e...
2017: Frontiers in Cell and Developmental Biology
https://www.readbyqxmd.com/read/28293528/intermediate-phenotype-between-adult-syndrome-and-eec-syndrome-caused-by-r243q-mutation-in-tp63
#13
Yuki Otsuki, Koichi Ueda, Chisei Satoh, Ryuta Maekawa, Koh-Ichiro Yoshiura, Sachiko Iseki
A patient who had ectrodactyly, dry skin, exfoliative dermatitis, and hypodontia with peg-shaped teeth, but not cleft lip and palate, is described. Ectrodactyly with a tooth anomaly is recognized in both acro-dermato-ungual-lacrimal-tooth (ADULT) syndrome and ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome. These 2 syndromes are caused by heterozygous mutations in the transcriptional factor gene p63. Mutation analysis of p63 gene showed a heterozygous mutation c.728G>A, p.Arg243Gln (previously referred to as R204Q) in the patient, but not in his parents...
December 2016: Plastic and Reconstructive Surgery. Global Open
https://www.readbyqxmd.com/read/28291836/unique-spatiotemporal-requirements-for-intraflagellar-transport-genes-during-forebrain-development
#14
John Snedeker, Elizabeth N Schock, Jamie N Struve, Ching-Fang Chang, Megan Cionni, Pamela V Tran, Samantha A Brugmann, Rolf W Stottmann
Primary cilia are organelles extended from virtually all cells and are required for the proper regulation of a number of canonical developmental pathways. The role in cortical development of proteins important for ciliary form and function is a relatively understudied area. Here we have taken a genetic approach to define the role in forebrain development of three intraflagellar transport proteins known to be important for primary cilia function. We have genetically ablated Kif3a, Ift88, and Ttc21b in a series of specific spatiotemporal domains...
2017: PloS One
https://www.readbyqxmd.com/read/28285100/engineering-epithelial-stromal-interactions-in-vitro-for-toxicology-assessment
#15
REVIEW
David G Belair, Barbara D Abbott
Crosstalk between epithelial and stromal cells drives the morphogenesis of ectodermal organs during development and promotes normal mature adult epithelial tissue homeostasis. Epithelial-stromal interactions (ESIs) have historically been examined using mammalian models and ex vivo tissue recombination. Although these approaches have elucidated signaling mechanisms underlying embryonic morphogenesis processes and adult mammalian epithelial tissue function, they are limited by the availability of tissue, low throughput, and human developmental or physiological relevance...
March 8, 2017: Toxicology
https://www.readbyqxmd.com/read/28283405/coordination-of-limb-development-by-crosstalk-among-axial-patterning-pathways
#16
REVIEW
Irene Delgado, Miguel Torres
Vertebrate limb development relies on the activity of signaling centers that promote growth and control patterning along three orthogonal axes of the limb bud. The apical ectodermal ridge, at the distal rim of the limb bud ectoderm, produces WNT and FGF signals, which promote limb bud growth and progressive distalization. The zone of polarizing activity, a discrete postero-distal mesenchymal domain, produces SHH, which stimulates growth and organizes patterning along the antero-posterior axis. The dorsal and ventral ectoderms produce, respectively, WNT7A and BMPs, which induce dorso-ventral limb fates...
March 7, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28274016/epignathus-leading-to-fatal-airway-obstruction-in-a-neonate
#17
Shruti Sudhir Jadhav, Charusheela Sujit Korday, Sushma Malik, Vivek Kishor Shah, Shilpa Kapil Lad
Teratomas are benign tumours containing cells from ectodermal, mesodermal and endodermal layers with an incidence of about 1 in every 4,000 births. Their commonest site is sacro-coccygeal region, followed by anterior mediastinum. The incidence of teratomas localised to the head and neck region is around 2-9% of all cases. Epignathus is a rare congenital oropharyngeal teratoma originating from the base of the skull. Here we present a rare case of oropharyngeal teratoma in a neonate who was referred to our institute with an ill-defined oral mass protruding through a cleft in the hard palate...
January 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28272663/neu-laxova-syndrome-an-unusual-association-with-kyphosis
#18
Amandeep Kaur, Vijayalaxmi Suranagi, Kamal Patil, Hema Bannur
The Neu-Laxova syndrome is a rare autosomal recessive condition associated with neuro-ectodermal abnormalities and other patterns of severe malformations leading to prenatal or early postnatal lethality. Association with kyphosis is an extremely rare finding. A fetus born from a 25-year-old gravida at 30 weeks gestation was diagnosed with Dandy Walker syndrome with severe intrauterine growth restriction on ultrasonography. On post-mortem examination after termination of pregnancy, the fetus showed facial dysmorphology with microcephaly, smooth shiny skin and kyphosis...
February 4, 2017: Türk Patoloji Dergisi
https://www.readbyqxmd.com/read/28270602/integration-of-shh-and-fgf-signaling-in-controlling-hox-gene-expression-in-cultured-limb-cells
#19
Alan R Rodrigues, Nayuta Yakushiji-Kaminatsui, Yuji Atsuta, Guillaume Andrey, Patrick Schorderet, Denis Duboule, Clifford J Tabin
During embryonic development, fields of progenitor cells form complex structures through dynamic interactions with external signaling molecules. How complex signaling inputs are integrated to yield appropriate gene expression responses is poorly understood. In the early limb bud, for instance, Sonic hedgehog (Shh) is expressed in the distal posterior mesenchyme, where it acts as a mediator of anterior to posterior (AP) patterning, whereas fibroblast growth factor 8 (Fgf8) is produced by the apical ectodermal ridge (AER) at the distal tip of the limb bud to direct outgrowth along the proximal to distal (PD) axis...
March 7, 2017: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/28256018/oral-lichen-planus-in-childhood-a-case-series
#20
Marco Cascone, Antonio Celentano, Daniela Adamo, Stefania Leuci, Elvira Ruoppo, Michele D Mignogna
BACKGROUND: Although the exact incidence of pediatric oral lichen planus (OLP) is unknown, the oral mucosa seems to be less commonly involved, and the clinical presentation is often atypical. The aim of the study is to present a case series of OLP in childhood. METHODS: From our database, we retrospectively selected and analyzed the clinical data of OLP patients under the age of 18 where the diagnosis had been confirmed by histopathological analysis. RESULTS: The case series from our database shows eight patients, four males and four females...
March 3, 2017: International Journal of Dermatology
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