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https://www.readbyqxmd.com/read/28543993/genetic-background-of-hirschsprung-disease-a-bridge-between-basic-science-and-clinical-application
#1
Afsane Bahrami, Marjan Joodi, Mehrdad Ahmadi, Mina Maftouh, Seyed Mahdi Hassanian, Gordon A Ferns, Amir Avan
Hirschsprung's disease (HSCR) is a congenital disorder, defined by partial or complete loss of the neuronal ganglion cells in the intestinal tract, which is caused by the failure of neural crest cells to migrate completely during intestinal development during fetal life. HSCR has a multifactorial etiology, and genetic factors play a key role in its pathogenesis; these include mutations within several gene loci. These have been identified by screening candidate genes, or by conducting genome wide association (GWAS) studies...
May 19, 2017: Journal of Cellular Biochemistry
https://www.readbyqxmd.com/read/28537695/robotic-assisted-laparoscopic-excision-of-a-retroperitoneal-ganglioneuroma
#2
Lucas Medeiros Burttet, Fernando Jahn da Silva Abreu, Gabrielle Aguiar Varaschin, Brasil Silva, Milton Berger
INTRODUCTION: Ganglioneuromas are rare benign neoplasms of the sympathetic nervous system. We describe the case of an incidentally found ganglioneuroma in a woman. To our knowledge this is the first described case of robotic excision of a retroperitoneal ganglioneuroma. CASE: A 41-year-old female had an incidental retroperitoneal mass found during a routine US. CT scan and MRI showed an 8.3cm homogeneous mass, adjacent to left kidney upper pole, with peripheral contrast enhancement...
May 23, 2017: International Braz J Urol: Official Journal of the Brazilian Society of Urology
https://www.readbyqxmd.com/read/28534140/protective-effects-of-neural-crest-derived-stem-cell-conditioned-media-against-ischemia-reperfusion-induced-lung-injury-in-rats
#3
Chung-Kan Peng, Shu-Yu Wu, Shih-En Tang, Min-Hui Li, Shih-Shiuan Lin, Shi-Jye Chu, Kun-Lun Huang
Current treatments for ischemia-reperfusion (IR)-induced acute lung injury are limited. Mesenchymal stem cell-conditioned medium (CM) has been reported to attenuate lung injury. Neural crest stem cells (NCSCs), a type of multipotent stem cells, are more easily obtained than mesenchymal stem cells. We hypothesize that NCSC-CM has anti-inflammatory properties that could protect against IR-induced lung injury in rats. In this study, NCSC-CM was derived from rat NCSCs. Typical acute lung injury was induced by 30-min ischemia followed by 90-min reperfusion in adult male Sprague-Dawley rats...
May 23, 2017: Inflammation
https://www.readbyqxmd.com/read/28528728/spontaneous-calcium-waves-in-the-developing-enteric-nervous-system
#4
Marlene M Hao, Annette J Bergner, Caroline S Hirst, Lincon A Stamp, Franca Casagranda, Joel C Bornstein, Werend Boesmans, Pieter Vanden Berghe, Heather M Young
The enteric nervous system (ENS) is an extensive network of neurons in the gut wall that arises from neural crest-derived cells. Like other populations of neural crest cells, it is known that enteric neural crest-derived cells (ENCCs) influence the behaviour of each other and therefore must communicate. However, little is known about how ENCCs communicate with each other. In this study, we used Ca(2+) imaging to examine communication between ENCCs in the embryonic gut, using mice where ENCCs express a genetically-encoded calcium indicator...
May 18, 2017: Developmental Biology
https://www.readbyqxmd.com/read/28527813/enhancer-evolution-and-the-origins-of-morphological-novelty
#5
REVIEW
Mark Rebeiz, Miltos Tsiantis
A central goal of evolutionary biology is to understand the genetic origin of morphological novelties-i.e. anatomical structures unique to a taxonomic group. Elaboration of morphology during development depends on networks of regulatory genes that activate patterned gene expression through transcriptional enhancer regions. We summarize recent case studies and genome-wide investigations that have uncovered diverse mechanisms though which new enhancers arise. We also discuss how these enhancer-originating mechanisms have clarified the history of genetic networks underlying diversification of genital structures in flies, limbs and neural crest in chordates, and plant leaves...
May 18, 2017: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/28527696/essential-roles-of-g9a-in-cell-proliferation-and-differentiation-during-tooth-development
#6
Taichi Kamiunten, Hisashi Ideno, Akemi Shimada, Yoshinori Arai, Tatsuo Terashima, Yasuhiro Tomooka, Yoshiki Nakamura, Kazuhisa Nakashima, Hiroshi Kimura, Yoichi Shinkai, Makoto Tachibana, Akira Nifuji
Teeth develop through interactions between epithelial and mesenchymal tissues mediated by a signaling network comprised of growth factors and transcription factors However, little is known about how epigenetic modifiers affect signaling pathways and thereby regulate tooth formation. We previously reported that the histone 3 lysine 9 (H3K9) methyltransferase (MTase) G9a is specifically enriched in the tooth mesenchyme during mouse development. In this study, we investigated the functions of G9a in tooth development using G9a conditional knockout (KO) mice...
May 17, 2017: Experimental Cell Research
https://www.readbyqxmd.com/read/28527575/coup-tf-genes-human-diseases-and-the-development-of-the-central-nervous-system-in-murine-models
#7
Xiong Yang, Su Feng, Ke Tang
COUP-TFI and -TFII are members of the steroid/thyroid nuclear receptor superfamily. Recent clinical studies reveal that COUP-TFI gene mutations are associated with Bosch-Boonstra-Schaaf optic atrophy syndrome displaying symptoms of optic atrophy, intellectual disability, hypotonia, seizure, autism spectrum disorders, oromotor dysfunction, thin corpus callosum, or hearing defects, and COUP-TFII gene mutations lead to congenital heart defects and/or congenital diaphragmatic hernia with developmental delay and mental defects...
2017: Current Topics in Developmental Biology
https://www.readbyqxmd.com/read/28526750/pdgf-controls-contact-inhibition-of-locomotion-by-regulating-n-cadherin-during-neural-crest-migration
#8
Isabel Bahm, Elias H Barriga, Antonina Frolov, Eric Theveneau, Paul Frankel, Roberto Mayor
A fundamental property of neural crest (NC) migration is Contact inhibition of locomotion (CIL), a process by which cells change their direction of migration upon cell contact. CIL has been proven to be essential for NC migration in amphibian and zebrafish by controlling cell polarity in a cell contact dependent manner. Cell contact during CIL requires the participation of the cell adhesion molecule N-cadherin, which starts to be expressed by NC cells as a consequence of the switch between E- and N-cadherins during epithelial to mesenchymal transition (EMT)...
May 19, 2017: Development
https://www.readbyqxmd.com/read/28522527/lineage-dependent-spatial-and-functional-organization-of-the-mammalian-enteric-nervous-system
#9
Reena Lasrado, Werend Boesmans, Jens Kleinjung, Carmen Pin, Donald Bell, Leena Bhaw, Sarah McCallum, Hui Zong, Liqun Luo, Hans Clevers, Pieter Vanden Berghe, Vassilis Pachnis
The enteric nervous system (ENS) is essential for digestive function and gut homeostasis. Here we show that the amorphous neuroglia networks of the mouse ENS are composed of overlapping clonal units founded by postmigratory neural crest-derived progenitors. The spatial configuration of ENS clones depends on proliferation-driven local interactions of ENS progenitors with lineally unrelated neuroectodermal cells, the ordered colonization of the serosa-mucosa axis by clonal descendants, and gut expansion. Single-cell transcriptomics and mutagenesis analysis delineated dynamic molecular states of ENS progenitors and identified RET as a regulator of neurogenic commitment...
May 19, 2017: Science
https://www.readbyqxmd.com/read/28522518/neural-crest-rules-the-gut
#10
EDITORIAL
Pamela J Hines
No abstract text is available yet for this article.
May 19, 2017: Science
https://www.readbyqxmd.com/read/28514120/mouth-development
#11
REVIEW
Justin Chen, Laura A Jacox, Francesca Saldanha, Hazel Sive
A mouth is present in all animals, and comprises an opening from the outside into the oral cavity and the beginnings of the digestive tract to allow eating. This review focuses on the earliest steps in mouth formation. In the first half, we conclude that the mouth arose once during evolution. In all animals, the mouth forms from ectoderm and endoderm. A direct association of oral ectoderm and digestive endoderm is present even in triploblastic animals, and in chordates, this region is known as the extreme anterior domain (EAD)...
May 17, 2017: Wiley Interdisciplinary Reviews. Developmental Biology
https://www.readbyqxmd.com/read/28509082/atg7-mediated-autophagy-is-involved-in-the-neural-crest-cell-generation-in-chick-embryo
#12
Guang Wang, En-Ni Chen, Chang Liang, Jianxin Liang, Lin-Rui Gao, Manli Chuai, Andrea Münsterberg, Yongping Bao, Liu Cao, Xuesong Yang
Autophagy plays a very important role in numerous physiological and pathological events. However, it still remains unclear whether Atg7-induced autophagy is involved in the regulation of neural crest cell production. In this study, we found the co-location of Atg7 and Pax7(+) neural crest cells in early chick embryo development. Upregulation of Atg7 with unilateral transfection of full-length Atg7 increased Pax7(+) and HNK-1(+) cephalic and trunk neural crest cell numbers compared to either Control-GFP transfection or opposite neural tubes, suggesting that Atg7 over-expression in neural tubes could enhance the production of neural crest cells...
May 16, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28506991/sonic-hedgehog-regulation-of-foxf2-promotes-cranial-neural-crest-mesenchyme-proliferation-and-is-disrupted-in-cleft-lip-morphogenesis
#13
Joshua L Everson, Dustin M Fink, Joon Won Yoon, Elizabeth J Leslie, Henry W Kietzman, Lydia J Ansen-Wilson, Hannah M Chung, David O Walterhouse, Mary L Marazita, Robert J Lipinski
Cleft lip is one of the most common human birth defects, yet our understanding of the mechanisms that regulate lip morphogenesis is limited. Here, we show that Sonic Hedgehog (Shh)-induced proliferation of cranial neural crest cell (cNCC) mesenchyme is required for upper lip closure. Gene expression profiling revealed a subset of Forkhead box (Fox) genes regulated by Shh signaling during lip morphogenesis. During cleft pathogenesis, reduced proliferation in the medial nasal process mesenchyme paralleled the domain of reduced Foxf2 and Gli1 expression...
May 15, 2017: Development
https://www.readbyqxmd.com/read/28506690/romidepsin-induces-caspase-dependent-cell-death-in-human-neuroblastoma-cells
#14
Shane V Hegarty, Katie L Togher, Eimear O'Leary, Franziska Solger, Aideen M Sullivan, Gerard W O'Keeffe
Neuroblastoma is the most common extracranial pediatric solid tumor, arising from the embryonic sympathoadrenal lineage of the neural crest, and is responsible for 15% of childhood cancer deaths. Although survival rates are good for some patients, those children diagnosed with high-risk neuroblastoma have survival rates as low as 35%. Thus, neuroblastoma remains a significant clinical challenge and the development of novel therapeutic strategies is essential. Given that there is widespread epigenetic dysregulation in neuroblastoma, epigenetic pharmacotherapy holds promise as a therapeutic approach...
May 12, 2017: Neuroscience Letters
https://www.readbyqxmd.com/read/28503544/update-on-foregut-molecular-embryology-and-role-of-regenerative-medicine-therapies
#15
REVIEW
Silvia Perin, Conor J McCann, Osvaldo Borrelli, Paolo De Coppi, Nikhil Thapar
Esophageal atresia (OA) represents one of the commonest and most severe developmental disorders of the foregut, the most proximal segment of the gastrointestinal (GI) tract (esophagus and stomach) in embryological terms. Of intrigue is the common origin from this foregut of two very diverse functional entities, the digestive and respiratory systems. OA appears to result from incomplete separation of the ventral and dorsal parts of the foregut during development, resulting in disruption of esophageal anatomy and frequent association with tracheo-oesophageal fistula...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28500913/myb-fusions-and-cd-markers-as-tools-for-authentication-and-purification-of-cancer-stem-cells-from-salivary-adenoid-cystic-carcinoma
#16
Alex Panaccione, Yi Zhang, Molly Ryan, Christopher A Moskaluk, Karen S Anderson, Wendell G Yarbrough, Sergey V Ivanov
Cancer stem cells (CSC) are considered the major cause of aggressive tumor behavior, recurrence, metastases, and resistance to radiation, making them an attractive therapeutic target. However, isolation of CSC from tumor tissue and their characterization are challenging due to uncertainty about their molecular markers and conditions for their propagation. Adenoid cystic carcinoma (ACC), which arises predominantly in the salivary glands, is a slow-growing but relentless tumor that frequently invades nerves and metastasizes...
May 5, 2017: Stem Cell Research
https://www.readbyqxmd.com/read/28494100/paracrine-regulation-of-melanogenesis
#17
REVIEW
X H Yuan, Z H Jin
Melanocytes are generally characterized by the basic ability of melanin synthesis and transfer to adjacent keratinocytes to constitute individual skin phenotype and provide epidermal protection from various stimuli, such as ultraviolet (UV) irradiation, through a complex process called melanogenesis, which can be regulated by autocrine or paracrine factors. Recent evidences have revealed the paracrine effects of keratinocytes on melanogenesis by secreting cytokines, including alpha-melanocyte stimulating hormone (α-MSH) and endothelin-1...
May 11, 2017: British Journal of Dermatology
https://www.readbyqxmd.com/read/28491486/crest-calcinosis-affecting-the-lumbar-and-cervical-spine-and-the-use-of-minimally-invasive-surgery
#18
Kassem Faraj, Kristin Perez-Cruet, Mick Perez-Cruet
Calcinosis in CREST (calcinosis, Raynaud's phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome can affect the spinal and paraspinal areas. We present the first case to our knowledge where a CREST syndrome patient required surgery for spinal calcinosis in both the cervical and lumbar areas. A 66-year-old female with a history of CREST syndrome presented with right-sided lower extremity radicular pain. A computed tomography (CT) scan showed bilateral lumbar masses (5.8 cm on the right, 3...
April 8, 2017: Curēus
https://www.readbyqxmd.com/read/28491275/outflow-tract-septation-and-the-aortic-arch-system-in-reptiles-lessons-for-understanding-the-mammalian-heart
#19
Robert E Poelmann, Adriana C Gittenberger-de Groot, Marcel W M Biermans, Anne I Dolfing, Armand Jagessar, Sam van Hattum, Amanda Hoogenboom, Lambertus J Wisse, Rebecca Vicente-Steijn, Merijn A G de Bakker, Freek J Vonk, Tatsuya Hirasawa, Shigeru Kuratani, Michael K Richardson
BACKGROUND: Cardiac outflow tract patterning and cell contribution are studied using an evo-devo approach to reveal insight into the development of aorto-pulmonary septation. RESULTS: We studied embryonic stages of reptile hearts (lizard, turtle and crocodile) and compared these to avian and mammalian development. Immunohistochemistry allowed us to indicate where the essential cell components in the outflow tract and aortic sac were deployed, more specifically endocardial, neural crest and second heart field cells...
2017: EvoDevo
https://www.readbyqxmd.com/read/28490276/endometrial-stromal-and-epithelial-cells-exhibit-unique-aberrant-molecular-defects-in-patients-with-endometriosis
#20
Philip C Logan, Pamela Yango, Nam D Tran
CONTEXT: Endometriosis is a chronic inflammatory disease that causes pain and infertility in women of reproductive age. OBJECTIVE: To investigate the pathologic pathways in endometrial stromal and epithelial cells that contribute to the manifestation of endometriosis. DESIGN: In vitro cellular and molecular analyses of isolated eutopic endometrial stromal and epithelial cells. METHODS: Eutopic stromal and epithelial cells from endometriotic and normal patients were isolated by fluorescence-activated cell sorting for paired sibling RNA sequencing and microRNA microarray...
January 1, 2017: Reproductive Sciences
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