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Xin Geng, Sandra Acosta, Oleg Lagutin, HyeaJin Gil, Guillermo Oliver
Holoprosencephaly (HPE) is defined as the incomplete separation of the two cerebral hemispheres. The pathology of HPE is variable and based on the severity of the defect, HPE is divided into alobar, semilobar, and lobar. Using a novel hypomorphic Six3 allele, we demonstrate that variability in Six3 dosage results in different HPE phenotypes. Furthermore, we also show that while the semilobar phenotype results from severe downregulation of Shh expression in the rostral diencephalon ventral midline, the alobar phenotype is caused by downregulation of Foxg1 expression in the anterior neural ectoderm...
October 21, 2016: Development
Ana Rolo, Sarah Escuin, Nicholas D E Greene, Andrew J Copp
Neural tube closure is an important morphogenetic event that involves dramatic reshaping of both neural and non-neural tissues. Rho GTPases are key cytoskeletal regulators involved in cell motility and in several developmental processes, and are thus expected to play pivotal roles in neurulation. Here, we discuss 2 recent studies that shed light on the roles of distinct Rho GTPases in different tissues during neurulation. RhoA plays an essential role in regulating actomyosin dynamics in the neural epithelium of the elevating neural folds, while Rac1 is required for the formation of cell protrusions in the non-neural surface ectoderm during neural fold fusion...
October 21, 2016: Small GTPases
Olivier Duverger, Takahiro Ohara, Paul W Bible, Angela Zah, Maria I Morasso
Patients with Tricho-Dento-Osseous syndrome, an ectodermal dysplasia caused by mutations in the homeodomain transcription factor DLX3, exhibit enamel hypoplasia and hypomineralization. Here we used a conditional knockout mouse model to investigate the developmental and molecular consequences of Dlx3 deletion in the dental epithelium in vivo. Dlx3 deletion in the dental epithelium resulted in the formation of chalky hypomineralized enamel in all teeth. Interestingly, transcriptomic analysis revealed that major enamel matrix proteins and proteases known to be involved in enamel secretion and maturation were not affected significantly by Dlx3 deletion in the enamel organ...
October 19, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
Chuan Shi, Fen Wang, Anli Tong, Xiao-Qian Zhang, Hong-Mei Song, Zheng-Yin Liu, Wei Lyu, Yue-Hua Liu, Wei-Bo Xia
BACKGROUND: Common variable immunodeficiency (CVID) with central adrenal insufficiency is a recently defined clinical syndrome caused by mutations in the nuclear factor kappa-B subunit 2 (NFKB2) gene. We present the first case of NFKB2 mutation in Asian population. METHODS AND RESULTS: An 18-year-old Chinese female with adrenocorticotropic hormone (ACTH) deficiency was admitted due to adrenal crisis and pneumonia. She had a history of recurrent respiratory infections since childhood and ectodermal abnormalities were noted during physical examination...
October 2016: Medicine (Baltimore)
Alon Peled, Ofer Sarig, Liat Samuelov, Marta Bertolini, Limor Ziv, Daphna Weissglas-Volkov, Marina Eskin-Schwartz, Christopher A Adase, Natalia Malchin, Ron Bochner, Gilad Fainberg, Ilan Goldberg, Koji Sugawara, Avital Baniel, Daisuke Tsuruta, Chen Luxenburg, Noam Adir, Olivier Duverger, Maria Morasso, Stavit Shalev, Richard L Gallo, Noam Shomron, Ralf Paus, Eli Sprecher
Despite recent advances in our understanding of the pathogenesis of ectodermal dysplasias (EDs), the molecular basis of many of these disorders remains unknown. In the present study, we aimed at elucidating the genetic basis of a new form of ED featuring facial dysmorphism, scalp hypotrichosis and hypodontia. Using whole exome sequencing, we identified 2 frameshift and 2 missense mutations in TSPEAR segregating with the disease phenotype in 3 families. TSPEAR encodes the thrombospondin-type laminin G domain and EAR repeats (TSPEAR) protein, whose function is poorly understood...
October 2016: PLoS Genetics
Issei S Shimada, Saikat Mukhopadhyay
Disruption of the normal mechanisms that mediate neural tube closure can result in neural tube defects (NTDs) with devastating consequences in affected patients. With the advent of next-generation sequencing, we are increasingly detecting mutations in multiple genes in NTD cases. However, our ability to determine which of these genes contribute to the malformation is limited by our understanding of the pathways controlling neural tube closure. G-protein-coupled receptors (GPCRs) comprise the largest family of transmembrane receptors in humans and have been historically favored as drug targets...
October 12, 2016: Birth Defects Research. Part A, Clinical and Molecular Teratology
Sunil K Kothiwala, Mahesh Prajapat, C M Kuldeep
Christ-Siemens-Touraine syndrome is a form of anhidrotic ectodermal dysplasia (ED) characterized by triad of hypodontia, hypotrichosis, and hypohidrosis. Palmoplantar keratoderma is a characteristic feature of hidrotic forms of ED. Till date, only two cases have been reported of Christ-Siemens-Touraine syndrome with palmoplantar keratoderma; here we report a similar case emphasizing this rare association.
September 2016: Indian Dermatology Online Journal
Inger Kjær
INTRODUCTION: This three-part article summarizes ideas already described elsewhere by the author. Part 1. New way of diagnosing the dentition. For diagnostic purposes origin and appearance of the three tissue types - ectoderm, mesoderm (ectomesenchyme) and peripheral nerves - are depicted on orthopantomograms. Same tissue types are marked on the root surface (peri-root sheet). Part 2. Factors provoking root resorption. Resorption can be explained from the composition of the peri-root sheet...
September 2016: L' Orthodontie Française
Jairo A Diaz, Mauricio F Murillo, Jhonan A Mendoza, Ana M Barreto, Lina S Poveda, Lina K Sanchez, Laura C Poveda, Katherine T Mora
Emergent biological responses develop via unknown processes dependent on physical collision. In hypoxia, when the tissue architecture collapses but the geometric core is stable, actin cytoskeleton filament components emerge, revealing a hidden internal order that identifies how each molecule is reassembled into the original mold, using one common connection, i.e., a fractal self-similarity that guides the system from the beginning in reverse metamorphosis, with spontaneous self-assembly of past forms that mimics an embryoid phenotype...
2016: American Journal of Stem Cells
Boon Siang Nicholas Tan, Joly Kwek, Chong Kum Edwin Wong, Nicholas J Saner, Charlotte Yap, Fernando Felquer, Michael B Morris, David K Gardner, Peter D Rathjen, Joy Rathjen
Multiple pluripotent cell populations, which together comprise the pluripotent cell lineage, have been identified. The mechanisms that control the progression between these populations are still poorly understood. The formation of early primitive ectoderm-like (EPL) cells from mouse embryonic stem (mES) cells provides a model to understand how one such transition is regulated. EPL cells form from mES cells in response to l-proline uptake through the transporter Slc38a2. Using inhibitors of cell signaling we have shown that Src family kinases, p38 MAPK, ERK1/2 and GSK3β are required for the transition between mES and EPL cells...
2016: PloS One
Axel R Concepcion, Martin Vaeth, Larry E Wagner, Miriam Eckstein, Lee Hecht, Jun Yang, David Crottes, Maximilian Seidl, Hyosup P Shin, Carl Weidinger, Scott Cameron, Stuart E Turvey, Thomas Issekutz, Isabelle Meyts, Rodrigo S Lacruz, Mario Cuk, David I Yule, Stefan Feske
Eccrine sweat glands are essential for sweating and thermoregulation in humans. Loss-of-function mutations in the Ca2+ release-activated Ca2+ (CRAC) channel genes ORAI1 and STIM1 abolish store-operated Ca2+ entry (SOCE), and patients with these CRAC channel mutations suffer from anhidrosis and hyperthermia at high ambient temperatures. Here we have shown that CRAC channel-deficient patients and mice with ectodermal tissue-specific deletion of Orai1 (Orai1K14Cre) or Stim1 and Stim2 (Stim1/2K14Cre) failed to sweat despite normal sweat gland development...
October 10, 2016: Journal of Clinical Investigation
Claudette Rabinowitz, Elisabeth Moiseeva, Baruch Rinkevich
No abstract text is available yet for this article.
October 7, 2016: Cell and Tissue Research
Misty R Riddle, Erik A Spickard, Angela Jevince, Ken C Q Nguyen, David H Hall, Pradeep M Joshi, Joel H Rothman
The differentiated cell identities and structure of fully formed organs are generally stable after their development. In contrast, we report here that development of the C. elegans proximal somatic gonad (hermaphrodite uterus and spermathecae, and male vas deferens) can be redirected into intestine-like organs by brief expression of the ELT-7 GATA transcription factor. This process converts one developing organ into another and can hence be considered "transorganogenesis." We show that, following pulsed ELT-7 expression, cells of the uterus activate and maintain intestine-specific gene expression and are transformed at the ultrastructural level to form an epithelial tube resembling the normal intestine formed during embryogenesis...
October 4, 2016: Developmental Biology
Kohei Yamakawa, Takuya Yoshino, Kotaro Watanabe, Koichiro Kawano, Akira Kurita, Naomi Matsuzaki, Yoshiaki Yuba, Shujiro Yazumi
BACKGROUND: Cronkhite-Canada syndrome (CCS) is a rare non-inherited disorder, characterized by gastrointestinal polyposis and ectodermal changes. The pathophysiology remains unclear. Treatment with corticosteroids is considered the mainstay treatment because of its high efficacy. However, some patients have steroid-resistant CCS. The therapeutic strategy for steroid-resistant CCS is not yet established. We report two cases with steroid-resistant CCS that were effectively treated with cyclosporine (CyA)...
October 6, 2016: BMC Gastroenterology
Kaoru S Imai, Clare Hudson, Izumi Oda-Ishii, Hitoyoshi Yasuo, Yutaka Satou
Many animal embryos use nuclear β-catenin (nβ-catenin) during the segregation of endomesoderm (or endoderm) from ectoderm. This mechanism is thus likely to be evolutionarily ancient. In the ascidian embryo, nβ-catenin reiteratively drives binary fate decisions between ectoderm and endomesoderm at the 16-cell stage, and then between endoderm and margin (mesoderm and caudal neural) at the 32-cell stage. At the 16-cell stage, nβ-catenin activates endomesoderm genes in the vegetal hemisphere. At the same time, nβ-catenin suppresses the DNA-binding activity of a maternal transcription factor Gata...
October 5, 2016: Development
Alys M Cheatle Jarvela, Kristen A Yankura, Veronica F Hinman
How neural stem cells generate the correct number and type of differentiated neurons in appropriate places is an important question in developmental biology. Although nervous systems are diverse across phyla, many taxa have a larva that forms an anterior concentration of serotonergic neurons, or apical organ. The number of neurons in these organs is highly variable. Previous work demonstrated that the sea star embryo initially has a pan-neurogenic ectoderm, but the genetic mechanism that directs only a subset of these cells to generate serotonergic neurons in a particular location had not been resolved...
October 5, 2016: Development
Joseph Pickering, Matthew Towers
In an influential model of pattern formation, a gradient of Sonic hedgehog (Shh) signalling in the chick wing bud specifies cells with three antero-posterior positional values, which give rise to three morphologically different digits by a self-organizing mechanism with Turing-like properties. However, as four of the five digits of the mouse limb are morphologically similar in terms of phalangeal pattern, it has been suggested that self-organization alone could be sufficient. Here, we show that inhibition of Shh signalling at a specific stage of chick wing development results in a pattern of four digits, three of which can have the same number of phalanges...
October 1, 2016: Development
Rudolf Winklbauer, Serge E Parent
Adhesion differences are the main driver of cell sorting and related processes such as boundary formation or tissue positioning. In the early amphibian embryo, graded variations in cadherin density and localized expression of adhesion-modulating factors are associated with regional differences in adhesive properties including overall adhesion strength. The role of these differences in embryonic boundary formation has not been studied extensively, but available evidence suggests that adhesion strength differentials are not essential...
September 30, 2016: Mechanisms of Development
Maria M Mikedis, Karen M Downs
BACKGROUND: PRDM1 is a transcriptional repressor that contributes to primordial germ cell (PGC) development. During early gastrulation, epiblast-derived PRDM1 is thought to be restricted to a lineage-segregated germ line in the allantois. However, given recent findings that PGCs overlap an allantoic progenitor pool that contributes widely to the fetal-umbilical interface, posterior PRDM1 may also contribute to soma. RESULTS: Within the posterior mouse gastrula (Early Streak - 12-s stages, ∼E6...
October 3, 2016: Developmental Dynamics: An Official Publication of the American Association of Anatomists
Milana A Kulakova, Nadezhda I Bakalenko, Elena L Novikova
Hox genes are the key regulators of axial regionalization of bilaterian animals. However, their main function is fulfilled differently in the development of animals from different evolutionary branches. Early patterning of the developing embryos by Hox gene expression in the representatives of protostomes (arthropods, mollusks) starts in the ectodermal cells. On the contrary, the instructive role of the mesoderm in the axial patterning was demonstrated for vertebrates. This makes it difficult to understand if during the axial regionalization of ancestral bilaterians Hox genes first expressed in the developing mesoderm or the ectoderm...
October 3, 2016: Development Genes and Evolution
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