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https://www.readbyqxmd.com/read/28938441/canonical-wnt-signaling-regulates-the-pituitary-organizer-and-pituitary-gland-formation
#1
Allison M Osmundsen, Jessica L Keisler, M Mark Taketo, Shannon W Davis
The pituitary organizer is a domain within the ventral diencephalon that expresses Bmp4, Fgf8, and Fgf10, which induces the formation of the pituitary precursor, Rathke's pouch, from the oral ectoderm. The WNT signaling pathway regulates this pituitary organizer such that loss of Wnt5a leads to an expansion of the pituitary organizer and an enlargement of Rathke's pouch. WNT signaling is classified into canonical signaling, which is mediated by β-CATENIN, and non-canonical signaling, which operates independently of β-CATENIN...
August 16, 2017: Endocrinology
https://www.readbyqxmd.com/read/28930817/cronkhite-canada-syndrome-associated-with-colon-cancer-metastatic-to-liver-a-case-report
#2
Jing Wang, Lei Zhao, Nina Ma, Juanjuan Che, Huihui Li, Bangwei Cao
RATIONALE: Cronkhite-Canada Syndrome (CCS) is an idiopathic, nonhereditary syndrome haracterized by gastrointestinal (GI) polyposis and ectodermal changes including alopecia, onychatrophia, and pigmentation. CCS colon polyps were previously considered to be benign neoplasms. However, serrated adenoma was reported to be associated with malignant neoplasms in some cases of gastric and colorectal carcinomas, and esophageal cancers. Although malignant colon and gastric cancer have been reported in CCS, reports of distant metastasis have been rare in CCS...
September 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28928767/genome-wide-epigenetic-characterization-of-tissues-from-three-germ-layers-isolated-from-sheep-fetuses
#3
Emanuele Capra, Paola Toschi, Marcello Del Corvo, Barbara Lazzari, Pier A Scapolo, Pasqualino Loi, John L Williams, Alessandra Stella, Paolo Ajmone-Marsan
DNA methylation of regulatory and growth-related genes contributes to fetal programming which is important for maintaining the correct development of three germ layers of the embryo that develope into different tissues and organs, and which persists into adult life. In this study, a preliminary epigenetic screen was performed to define genomic regions that are involved in fetal epigenome remodeling. Embryonic ectodermic tissues (origin of nervous tissue), mesenchymal tissues (origin of connective and muscular tissues), and foregut endoderm tissues (origin of epithelial tissue), from day 28 sheep fetuses were collected and the distribution of methylated CpGs was analyzed using whole-genome bisulfite sequencing...
2017: Frontiers in Genetics
https://www.readbyqxmd.com/read/28926243/are-we-there-yet-applying-thermodynamic-and-kinetic-profiling-on-embryonic-ectoderm-development-eed-hit-to-lead-program
#4
Ying Wang, Rohinton P Edalji, Sanjay C Panchal, Chaohong C Sun, Stevan W Djuric, Anil Vasudevan
It is advocated that kinetic and thermodynamic profiling of bioactive compounds should be incorporated and utilized as complementary tools for hit and lead optimizations in drug discovery. To assess their applications in the EED hit-to-lead optimization process, large amount of thermodynamic and kinetic data were collected and analyzed via isothermal titration calorimetry (ITC) and surface plasmon resonance (SPR), respectively. Slower dissociation rates (koff) of the lead compounds were observed as the program progressed...
September 19, 2017: Journal of Medicinal Chemistry
https://www.readbyqxmd.com/read/28926091/functional-role-of-mesenchymal-stem-cells-in-the-treatment-of-chronic-neurodegenerative-diseases
#5
Debora Lo Furno, Giuliana Mannino, Rosario Giuffrida
Mesenchymal stem cells (MSCs) can differentiate into not only cells of mesodermal lineages, but also into endodermal and ectodermal derived elements, including neurons and glial cells. For this reason, MSCs have been extensively investigated to develop cell-based therapeutic strategies, especially in pathologies whose pharmacological treatments give poor results, if any. As in the case of irreversible neurological disorders characterized by progressive neuronal death, in which behavioral and cognitive functions of patients inexorably decline as the disease progresses...
September 19, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28920104/variable-phenotypic-penetrance-of-thrombosis-in-adult-mice-after-tissue-selective-and-temporally-controlled-thbd-gene-inactivation
#6
Thijs E van Mens, Hai-Po H Liang, Sreemanti Basu, Irene Hernandez, Mark Zogg, Jennifer May, Min Zhan, Qiuhui Yang, Jamie Foeckler, Shawn Kalloway, Rashmi Sood, Caren Sue Karlson, Hartmut Weiler
Thrombomodulin (Thbd) exerts pleiotropic effects on blood coagulation, fibrinolysis, and complement system activity by facilitating the thrombin-mediated activation of protein C and thrombin-activatable fibrinolysis inhibitor and may have additional thrombin- and protein C (pC)-independent functions. In mice, complete Thbd deficiency causes embryonic death due to defective placental development. In this study, we used tissue-selective and temporally controlled Thbd gene ablation to examine the function of Thbd in adult mice...
June 27, 2017: Blood Advances
https://www.readbyqxmd.com/read/28919208/genetics-of-clubfoot-recent-progress-and-future-perspectives
#7
REVIEW
Sulman Basit, Khalid I Khoshhal
Clubfoot or talipes equinovarus (TEV) is an inborn three-dimensional deformity of leg, ankle and foot. It results from structural defects of several tissues of foot and lower leg leading to abnormal positioning of foot and ankle joints. TEV can lead to long-lasting functional disability, malformation and discomfort if left untreated. Substantial progress has been achieved in the management and diagnosis of limb defects; however, not much is known about the molecular players and signalling pathways underlying TEV disorder...
September 14, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28916725/characterization-of-enhancers-and-the-role-of-the-transcription-factor-klf7-in-regulating-corneal-epithelial-differentiation
#8
Rachel Herndon Klein, William Hu, Ghaidaa Kashgari, Ziguang Lin, Tuyen Nguyen, Michael Doan, Bogi Andersen
During tissue development, transcription factors bind regulatory DNA regions called enhancers, often located at great distances from the genes they regulate, to control gene expression. The enhancer landscape during embryonic stem cell differentiation has been well characterized. By contrast, little is known about the shared and unique enhancer regulatory mechanisms in different ectodermally derived epithelial cells. Here, we use ChIP-seq to identify domains enriched for histone marks H3K4me3, H3K4me1, and H3K27ac, and define for the first time the super enhancers and typical enhancers active in primary human corneal epithelial cells...
September 15, 2017: Journal of Biological Chemistry
https://www.readbyqxmd.com/read/28915553/identification-of-a-novel-p53-target-col17a1-that-inhibits-breast-cancer-cell-migration-and-invasion
#9
Varalee Yodsurang, Chizu Tanikawa, Takafumi Miyamoto, Paulisally Hau Yi Lo, Makoto Hirata, Koichi Matsuda
p53 mutation is a marker of poor prognosis in breast cancers. To identify downstream targets of p53, we screened two transcriptome datasets, including cDNA microarrays of MCF10A breast epithelial cells with wild-type p53 or p53-null background, and RNA sequence analysis of breast invasive carcinoma. Here, we unveil ten novel p53 target candidates that are up-regulated after the induction of p53 in wild-type cells. Their expressions are also high in breast invasive carcinoma tissues with wild-type p53. The GO analysis identified epidermis development and ectoderm development, which COL17A1 participates, as significantly up-regulated by wild-type p53...
August 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/28914615/apoptosis-generates-mechanical-forces-that-close-the-lens-vesicle-in-the-chick-embryo
#10
Alina Oltean, Larry A Taber
During the initial stages of eye development, optic vesicles grow laterally outward from both sides of the forebrain and come into contact with the surrounding surface ectoderm (SE). Within the region of contact, these layers then thicken locally to create placodes and invaginate to form the optic cup (primitive retina) and lens vesicle (LV), respectively. This paper examines the biophysical mechanisms involved in LV formation, which consists of three phases: (1) lens placode formation; (2) invagination to create the lens pit (LP); and (3) closure to form a complete ellipsoidally shaped LV...
September 15, 2017: Physical Biology
https://www.readbyqxmd.com/read/28904581/split-notochord-syndrome-a-rare-variant
#11
Vidhu Dhawan, Kanchan Kapoor, Balbir Singh, Suman Kochhar, Alka Sehgal, Rima Dada
Split notochord syndrome represents an extremely rare and pleomorphic form of spinal dysraphism characterized by a persistent communication between the endoderm and the ectoderm, resulting in splitting or deviation of the notochord. It manifests as a cleft in the dorsal midline of the body through which intestinal loops are exteriorized and even myelomeningoceles or teratomas may occur at the site. A rare variant was diagnosed on autopsy of a 23(+4)-week-old fetus showing a similar dorsal enteric fistula and midline protruding intestinal loops in thoracolumbar region...
April 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28898113/interferon-regulatory-factor-6-is-necessary-for-salivary-glands-and-pancreas-development
#12
K A Metwalli, M A Do, K Nguyen, S Mallick, K Kin, N Farokhnia, G Jun, W D Fakhouri
Interferon regulatory factor 6 ( IRF6) acts as a tumor suppressor and controls cell differentiation in ectodermal and craniofacial tissues by regulating expression of target genes. Haploinsufficiency of IRF6 causes Van der Woude and popliteal pterygium syndrome, 2 syndromic forms of cleft lip and palate. Around 85% of patients with Van der Woude express pits on the lower lip that continuously or intermittently drain saliva, and patients with the common cleft lip and palate have a higher prevalence of dental caries and gingivitis...
September 1, 2017: Journal of Dental Research
https://www.readbyqxmd.com/read/28890164/directed-differentiation-of-human-bone-marrow-stromal-cells-to-fate-committed-schwann-cells
#13
Sa Cai, Yat-Ping Tsui, Kin-Wai Tam, Graham Ka-Hon Shea, Richard Shek-Kwan Chang, Qiang Ao, Daisy Kwok-Yan Shum, Ying-Shing Chan
Our ultimate goal of in vitro derivation of Schwann cells (SCs) from adult bone marrow stromal cells (BMSCs) is such that they may be used autologously to assist post-traumatic nerve regeneration. Existing protocols for derivation of SC-like cells from BMSCs fall short in the stability of the acquired phenotype and the functional capacity to myelinate axons. Our experiments indicated that neuro-ectodermal progenitor cells among the human hBMSCs could be selectively expanded and then induced to differentiate into SC-like cells...
August 29, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28888696/characterization-of-nvlwamide-like-neurons-reveals-stereotypy-in-nematostella-nerve-net-development
#14
Jamie A Havrilak, Dylan Faltine-Gonzalez, Yiling Wen, Daniella Fodera, Ayanna C Simpson, Craig R Magie, Michael J Layden
The organization of cnidarian nerve nets is traditionally described as diffuse with randomly arranged neurites that show minimal reproducibility between animals. However, most observations of nerve nets are conducted using cross-reactive antibodies that broadly label neurons, which potentially masks stereotyped patterns produced by individual neuronal subtypes. Additionally, many cnidarians species have overt structures such as a nerve ring, suggesting higher levels of organization and stereotypy exist, but mechanisms that generated that stereotypy are unkown...
September 6, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28886574/comparative-transcriptome-analysis-of-fast-twitch-muscle-and-slow-twitch-muscle-in-takifugu-rubripes
#15
Kailun Gao, Zhicheng Wang, Xiaoxu Zhou, Haoze Wang, Derong Kong, Chen Jiang, Xiuli Wang, Zhiqiang Jiang, Xuemei Qiu
Fast twitch muscle and slow twitch muscle are two important organs of Takifugu rubripes. Both tissues are of ectodermic origin, and the differences between the two muscle fibers reflect the differences in their myofibril protein composition and molecular structure. In order to identify and characterize the gene expression profile in the two muscle fibers of T. rubripes, we generated 54 million and 44 million clean reads from the fast twitch muscle and slow twitch muscle, respectively, using RNA-Seq and identified a total of 580 fast-muscle-specific genes, 1533 slow-muscle-specific genes and 11,806 genes expressed by both muscles...
August 30, 2017: Comparative Biochemistry and Physiology. Part D, Genomics & Proteomics
https://www.readbyqxmd.com/read/28886367/a-modular-platform-for-differentiation-of-human-pscs-into-all-major-ectodermal-lineages
#16
Jason Tchieu, Bastian Zimmer, Faranak Fattahi, Sadaf Amin, Nadja Zeltner, Shuibing Chen, Lorenz Studer
Directing the fate of human pluripotent stem cells (hPSCs) into different lineages requires variable starting conditions and components with undefined activities, introducing inconsistencies that confound reproducibility and assessment of specific perturbations. Here we introduce a simple, modular protocol for deriving the four main ectodermal lineages from hPSCs. By precisely varying FGF, BMP, WNT, and TGFβ pathway activity in a minimal, chemically defined medium, we show parallel, robust, and reproducible derivation of neuroectoderm, neural crest (NC), cranial placode (CP), and non-neural ectoderm in multiple hPSC lines, on different substrates independently of cell density...
September 7, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/28884940/variable-phenotypic-expression-in-a-large-noonan-syndrome-family-segregating-a-novel-sos1-mutation
#17
Dorothée C van Trier, Tuula Rinne, Kees Noordam, Jos M Draaisma, Ineke van der Burgt
Noonan syndrome (NS) is an autosomal dominant multisystem condition with a variable phenotype. The most characteristic features are short stature, congenital heart defects, and recognizable facial features. Mutations in SOS1 are found in 10-20% of patients with NS. Different genotype-phenotype studies mention correlations between SOS1 mutations and some features, such as ectodermal abnormalities and specific facial features. We present a large NS family with a novel pathogenic mutation; SOS1 c.3134C>G, p...
September 8, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28878954/brainstem-dermoid-cyst-rupture-with-hydrocephalus-in-a-child
#18
Elias Antoniades, Marios Themistocleous, Evangelos Drosos, Dimitrios Giakoumettis, Kyriakos Paraskeva, Panagiotis-Athanasios Georgis, George Sfakianos
Intracranial dermoid cysts are ectodermal lesions of embryological origin. They are of slow progression and symptoms associated with unruptured cysts are most commonly due to mass effect. However, a potential rupture in the ventricular system is rare and can cause meningitis, seizures and hydrocephalus. Hereby, we report a case of a 12-year-old boy presenting with obstructive hydrocephalus due to brainstem dermoid cyst rupture.
September 2017: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28878874/paxa-but-not-paxc-is-required-for-cnidocyte-development-in-the-sea-anemone-nematostella-vectensis
#19
Leslie S Babonis, Mark Q Martindale
BACKGROUND: Pax genes are a family of conserved transcription factors that regulate many aspects of developmental morphogenesis, notably the development of ectodermal sensory structures including eyes. Nematostella vectensis, the starlet sea anemone, has numerous Pax orthologs, many of which are expressed early during embryogenesis. The function of Pax genes in this eyeless cnidarian is unknown. RESULTS: Here, we show that PaxA, but not PaxC, plays a critical role in the development of cnidocytes in N...
2017: EvoDevo
https://www.readbyqxmd.com/read/28877528/x-linked-hypohidrotic-ectodermal-dysplasia-new-features-and-a-novel-eda-gene-mutation
#20
Salvatore Savasta, Giorgia Carlone, Riccardo Castagnoli, Francesca Chiappe, Francesco Bassanese, Roberta Piras, Vincenzo Salpietro, Valeria Brazzelli, Alberto Verrotti, Gian L Marseglia
We described a 5-year-old male with hypodontia, hypohidrosis, and facial dysmorphisms characterized by a depressed nasal bridge, maxillary hypoplasia, and protuberant lips. Chromosomal analysis revealed a normal 46,XY male karyotype. Due to the presence of clinical features of hypohidrotic ectodermal dysplasia (HED), the EDA gene, located at Xq12q13.1, of the patient and his family was sequenced. Analysis of the proband's sequence revealed a missense mutation (T to A transversion) in hemizygosity state at nucleotide position 158 in exon 1 of the EDA gene, which changes codon 53 from leucine to histidine, while heterozygosity at this position was detected in the slightly affected mother; moreover, this mutation was not found in the publically available Human Gene Mutation Database...
September 7, 2017: Cytogenetic and Genome Research
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