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https://www.readbyqxmd.com/read/29321666/are-there-multiple-cells-of-origin-of-merkel-cell-carcinoma
#1
REVIEW
J C Sunshine, N S Jahchan, J Sage, J Choi
Merkel cell carcinoma (MCC) is a rare but lethal cancer with the highest case-by-case fatality rate among all skin cancers. Eighty percent of cancers are associated with the Merkel cell polyomavirus (MCPyV). Twenty percent of MCCs are virus negative. Recent epidemiological data suggest that there are important, clinically relevant differences between these two subtypes of MCC. Recent studies in cancer genomics, mouse genetics, and virology experiments have transformed our understanding of MCC pathophysiology...
January 11, 2018: Oncogene
https://www.readbyqxmd.com/read/29311338/faulty-neuronal-determination-and-cell-polarization-are-reverted-by-modulating-hd-early-phenotypes
#2
P Conforti, D Besusso, V D Bocchi, A Faedo, E Cesana, G Rossetti, V Ranzani, C N Svendsen, L M Thompson, M Toselli, G Biella, M Pagani, E Cattaneo
Increasing evidence suggests that early neurodevelopmental defects in Huntington's disease (HD) patients could contribute to the later adult neurodegenerative phenotype. Here, by using HD-derived induced pluripotent stem cell lines, we report that early telencephalic induction and late neural identity are affected in cortical and striatal populations. We show that a large CAG expansion causes complete failure of the neuro-ectodermal acquisition, while cells carrying shorter CAGs repeats show gross abnormalities in neural rosette formation as well as disrupted cytoarchitecture in cortical organoids...
January 8, 2018: Proceedings of the National Academy of Sciences of the United States of America
https://www.readbyqxmd.com/read/29305264/functional-and-phenotypic-distinction-of-the-first-two-trophoblast-subdivisions-and-identification-of-the-border-between-them-during-early-postimplantation-a-prerequisite-for-understanding-early-patterning-during-placentogenesis
#3
Stavros Nikolaou, Xenia Hadjikypri, Giasemia Ioannou, Artemis Elia, Pantelis Georgiades
The early stages of mouse placentogenesis (placenta formation) involve poorly understood patterning events within polar trophectoderm-derived trophoblast, the progenitor of all placental trophoblast cell types. By early postimplantation [embryonic day 5.5 (E5.5)], this patterning causes early trophoblast to become subdivided into extraembryonic ectoderm (ExE) and ectoplacental cone (EPC). A prerequisite to understanding this patterning requires knowing the location of ExE-EPC border and being able to distinguish the entire ExE from EPC at E5...
January 2, 2018: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/29303477/a-gonad-expressed-opsin-mediates-light-induced-spawning-in-the-jellyfish-clytia
#4
Gonzalo Quiroga Artigas, Pascal Lapébie, Lucas Leclère, Noriyo Takeda, Ryusaku Deguchi, Gáspár Jékely, Tsuyoshi Momose, Evelyn Houliston
Across the animal kingdom, environmental light cues are widely involved in regulating gamete release, but the molecular and cellular bases of the photoresponsive mechanisms are poorly understood. In hydrozoan jellyfish, spawning is triggered by dark-light or light-dark transitions acting on the gonad, and is mediated by oocyte maturation-inducing neuropeptide hormones (MIHs) released from the ectoderm. We determined in Clytia hemisphaerica that blue-cyan light triggers spawning in isolated gonads. A candidate opsin (Opsin9) was found co-expressed with MIH within specialised ectodermal cells...
January 5, 2018: ELife
https://www.readbyqxmd.com/read/29298840/fibronectin-type-iii-and-intracellular-domains-of-toll-like-receptor-4-interactor-with-leucine-rich-repeats-tril-are-required-for-developmental-signaling
#5
Hyung-Seok Kim, Autumn McKnite, Yuanyuan Xie, Jan L Christian
Toll-like receptor 4 interactor with leucine-rich repeats (Tril) functions as a coreceptor for Toll-like receptors (Tlrs) to mediate innate immune responses in adults. In embryos, Tril signals to promote degradation of the Bmp inhibitor, Smad7, to allow for blood formation. It is not known if this function requires, or is independent of Tlrs. In the current studies, we performed a structure-function analysis, which indicated that the fibronectin type III (FN) domain, and the intracellular domain of Tril are required to trigger Smad7 degradation in Xenopus embryos...
January 3, 2018: Molecular Biology of the Cell
https://www.readbyqxmd.com/read/29291511/establishment-and-characterization-of-induced-pluripotent-stem-cells-from-placental-mesenchymal-stromal-cells
#6
Shagufta Parveen
Human term placenta is a bulky organ which harbours abundant mesenchymal stromal cells. This study reports isolation and characterization of placental mesenchymal stromal cells (PMSCs) followed by reprogramming of PMSCs to induced pluripotent stem cells (iPSCs). The placental human iPSC (PhiPSC) line is pluripotent with high telomerase activity, genetically identical to parental PMSCs, transgene free, karyotypically normal and differentiates into ectoderm, mesoderm and endoderm both in vitro and in vivo. Thus PMSCs serve as a unique cell type for human perinatal iPSC derivation from extra embryonic tissue...
December 14, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/29249002/notch-mediated-lateral-inhibition-is-an-evolutionarily-conserved-mechanism-patterning-the-ectoderm-in-echinoids
#7
Eric M Erkenbrack
Notch signaling is a crucial cog in early development of euechinoid sea urchins, specifying both non-skeletogenic mesodermal lineages and serotonergic neurons in the apical neuroectoderm. Here, the spatial distributions and function of delta, gcm, and hesc, three genes critical to these processes in euechinoids, are examined in the distantly related cidaroid sea urchin Eucidaris tribuloides. Spatial distribution and experimental perturbation of delta and hesc suggest that the function of Notch signaling in ectodermal patterning in early development of E...
December 16, 2017: Development Genes and Evolution
https://www.readbyqxmd.com/read/29234185/ellis-van-creveld-with-an-unusual-dental-anomaly-a-case-report
#8
Suzanne Tanya Nethan, Shruti Sinha, Sunira Chandra
The Ellis-van Creveld (EVC) syndrome is a chondroectodermal dysplasia and is characterized by the cardinal features of disproportionate short stature, polydactyly, hidrotic ectodermal dysplasia, and congenital heart malformations, along with other skeletal and dental abnormalities. It is a rare condition, with very few cases reported in the medical literature. It is inherited as an autosomal recessive disorder with variable expressions, due to the mutation of the EVC syndrome 1 and 2 genes, which are located on chromosome 4p16...
September 2017: Iranian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29229899/phenotypic-variation-in-patients-with-homozygous-c-1678g-t-mutation-in-evc-gene-report-of-two-mexican-families-with-ellis-van-creveld-syndrome
#9
Marisol Ibarra-Ramirez, Luis Daniel Campos-Acevedo, Jose Lugo-Trampe, Laura E Martínez-Garza, Víctor Martinez-Glez, María Valencia-Benitez, Pablo Lapunzina, Víctor Ruiz-Peréz
BACKGROUND Ellis-van Creveld syndrome is an autosomal recessive chondro-ectodermal dysplasia characterized by disproportionate short stature, limb shortening, narrow chest, postaxial polydactyly and dysplastic nails and teeth. In addition, 60% of cases present congenital heart defects. Ellis-van Creveld syndrome is predominantly caused by mutations in the EVC or EVC2 (4p16) genes, with only a few cases caused by mutations in WDR35.  CASE REPORT Here, we report on two Mexican families with patients diagnosed with Ellis-van Creveld syndrome...
December 12, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/29224249/pili-annulati-in-a-case-of-rothmund-thomson-syndrome-with-a-novel-frameshift-mutation-in-recql4
#10
B Bhoyrul, H Lindsay, R Robinson, J Stahlschmidt, T Palmer, S Edward, S M Clark
Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive genodermatosis characterised by erythematous patches or plaques and sometimes swelling and blisters, which appear during infancy on photo-exposed sites, usually the cheeks, then progress to poikiloderma. Other features include gastrointestinal disturbance, short stature, sparse scalp hair/eyebrows/eyelashes, skeletal abnormalities, juvenile cataracts, hypogonadism and a susceptibility to malignancy. Two forms have been described: Type I, characterised by poikiloderma, ectodermal dysplasia and juvenile cataracts, negative for the RECQL4 mutation, and Type II, with poikiloderma, congenital bone defects and increased risk of osteosarcoma related to deleterious RECQL4 mutations...
December 10, 2017: Journal of the European Academy of Dermatology and Venereology: JEADV
https://www.readbyqxmd.com/read/29220632/immunohistochemical-localization-of-fibrinogen-c-domain-containing-1-on-epithelial-and-mucosal-surfaces-in-human-tissues
#11
Sebastian von Huth, Jesper B Moeller, Anders Schlosser, Niels Marcussen, Ole Nielsen, Vicki Nielsen, Grith L Sorensen, Uffe Holmskov
Fibrinogen C domain containing 1 (FIBCD1) is a transmembrane receptor that binds chitin and other acetylated compounds with high affinity. FIBCD1 has previously been shown to be present in the epithelium of the gastrointestinal tract. In the present study, we performed a detailed analysis of normally structured human tissues for the expression of FIBCD1 by quantitative PCR and immunohistochemistry. We find that FIBCD1 is expressed in epithelial cells derived from all three germ layers. Endodermal-derived epithelial cells throughout the gastrointestinal tract and the respiratory system showed high expression of FIBCD1 and also mesodermal-derived cells in the genitourinary system and ectodermal-derived epidermis and sebaceous glands cells expressed FIBCD1...
December 1, 2017: Journal of Histochemistry and Cytochemistry: Official Journal of the Histochemistry Society
https://www.readbyqxmd.com/read/29214009/the-role-of-hoxa11-and-hoxa13-in-the-evolution-of-novel-fin-morphologies-in-a-representative-batoid-leucoraja-erinacea
#12
Shannon N Barry, Karen D Crow
Background: Batoids exhibit unique body plans with derived fin morphologies, such as the anteriorly expanded pectoral fins that fuse to the head, or distally extended anterior pelvic fin lobes used for a modified swimming technique utilized by skates (Rajidae). The little skate (Leucoraja erinacea), exhibits both of these unique fin morphologies. These fin modifications are not present in a typical shark body plan, and little is known regarding the mechanisms underlying their development...
2017: EvoDevo
https://www.readbyqxmd.com/read/29206913/molecular-regulation-of-nodal-signaling-during-mesendoderm-formation
#13
Shi Wei, Qiang Wang
One of the most important events during vertebrate embryogenesis is the formation or specification of the three germ layers, endoderm, mesoderm, and ectoderm. After a series of rapid cleavages, embryos form the mesendoderm and ectoderm during late blastulation and early gastrulation. The mesendoderm then further differentiates into the mesoderm and endoderm. Nodal, a member of the transforming growth factor β (TGF-β) superfamily, plays a pivotal role in mesendoderm formation by regulating the expression of a number of critical transcription factors, including Mix-like, GATA, Sox, and Fox...
December 1, 2017: Acta Biochimica et Biophysica Sinica
https://www.readbyqxmd.com/read/29204395/mutilating-keratoderma-with-concomitant-alopecia-and-keratoses-follicularis-spinulosa-decalvans-x-linked-olmsted-syndrome-and-its-response-to-isotretinoin
#14
Gunjan Verma, Kabir Sardana, R K Gautam
We report a case of mutilating keratoderma with alopecia and keratoses follicularis spinulosa decalvans (KFSD), which was initially diagnosed as ectodermal dysplasia and Olmsted syndrome but was revisited as a case of X-linked Olmsted (XLO) syndrome. We focus on this uncommon entity (XLO) to highlight the differentials of alopecia with palmoplantar keratoderma.
November 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/29204384/approach-to-a-child-with-primary-immunodeficiency-made-simple
#15
REVIEW
Dhrubajyoti Sharma, Ankur K Jindal, Amit Rawat, Surjit Singh
Primary immunodeficiency disorders (PIDs) are a group of disorders affecting the capability to fight against infection. These include defects in T cells and B cells affecting cell-mediated and humoral immunity, respectively, combined humoral and cell-mediated immunodeficiency, defects in phagocytosis, complement defects, and defects in cytokine or cytokine signalling pathways which are detrimental for immune function. Depending upon the type and severity, age at onset of symptoms can vary from neonatal period to late childhood...
November 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/29204203/intradiploic-pterional-epidermoid-tumor-a-case-report-and-review-of-literature
#16
Luis Rafael Moscote-Salazar, Guru Dutta Satyarthee, Willem Guillermo Calderon-Miranda, Amit Agrawal, Hernando Raphael Alvis-Miranda, Gabriel Alcala-Cerra, Alfonso Pacheco-Hernandez
Intradiploic epidermoid cyst is an uncommonly occurring neoplasm, and only about 200 cases are reported in the form of isolated case report. It is presumed to occur due to ectodermal cells in inclusion in the bone tissue during embryonic life neural tube closure. It commonly remains asymptomatic or rarely presents as a bony lump in the skull bone. Authors report present an interesting case, which presented with swelling, and underwent successful surgical resection. Pertinent literature along with diagnosis and management is briefly reviewed...
July 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/29203359/bone-marrow-derived-stem-cells-migrate-into-intra-epidermal-skin-defects-of-a-desmoglein-3-knockout-mouse-model-but-preserve-their-mesodermal-differentiation
#17
Christian Hünefeld, Markus Mezger, Eva Müller-Hermelink, Martin Schaller, Ingo Müller, Masayuki Amagai, Rupert Handgretinger, Martin Röcken
Inherited forms of Epidermolysis bullosa (EB) are blistering diseases of the skin and mucosa resulting from various gene mutations. Transplantation of bone marrow (BM)-derived stem cells might be a promising systemic treatment for severe dystrophic or junctional EB, but many key questions remain unresolved. Two open questions of clinical interest are whether systemically transplanted BM-derived stem cells of mesodermal origin might be able to transdifferentiate into keratinocytes with an ectodermal phenotype and whether these cells are also capable of repairing a specific intra-epidermal gene defect...
December 1, 2017: Journal of Investigative Dermatology
https://www.readbyqxmd.com/read/29202677/cronkhite-canada-syndrome-causing-pouch-outlet-obstruction-5-years-after-roux-en-y-gastric-bypass
#18
Ben Gys, Joren Mertens, Martin Ruppert, Guy Hubens
OBJECTIVE: We present the case of a 57-year-old man with a history of Roux-en-Y gastric bypass (RYGB) and colonic polyps who presented with an upper gastrointestinal obstruction based on massive stomach polyposis in the pouch. METHODS: Two months prior to this acute admission, he had undergone resection of the gastric remnant due to massive refractory intraluminal bleeding from a polypoid mass. Ten years earlier, right colectomy was performed due to hypertrophic polyposis unsuitable for endoscopic polypectomy...
December 5, 2017: Acta Chirurgica Belgica
https://www.readbyqxmd.com/read/29195821/early-implant-placement-for-a-patient-with-ectodermal-dysplasia-thirteen-years-of-clinical-care
#19
Lisa A Knobloch, Peter E Larsen, Paola C Saponaro, Emilie L'Homme-Langlois
Patients with ectodermal dysplasia have abnormalities of 2 or more structures that originate from the ectoderm. The oral manifestations often include the congenital absence of teeth and malformed teeth. This clinical report describes the interdisciplinary care from childhood through the definitive dental rehabilitation completed at skeletal maturation to replace the missing teeth in a patient with ectodermal dysplasia. Treatment began at 9 years of age with an implant-assisted mandibular overdenture to improve function and replace the missing mandibular teeth...
November 29, 2017: Journal of Prosthetic Dentistry
https://www.readbyqxmd.com/read/29190496/rerouting-mesenchymal-stem-cell-trajectory-towards-epithelial-lineage-by-engineering-cellular-niche
#20
REVIEW
Ananya Barui, Farhan Chowdhury, Abhay Pandit, Pallab Datta
Mesenchymal stromal/stem cells (MSCs) are multipotent cells that offer a promising outcome in the field of regenerative medicine. MSCs are present in various tissues including bone marrow, fat, skin, and placenta. The interest in clinical application of these mesoderm-derived MSCs is primarily fueled by their high self-renewal capacity and multipotency. Although, early studies indicated limited differentiation capacity of MSCs into same cell lineages from which they were isolated, subsequent investigations showed differentiation potential into other cell types of mesoderm origin including osteoblasts, adipocytes, fibroblasts, cardiomyocytes, and chondrocytes...
November 21, 2017: Biomaterials
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