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https://www.readbyqxmd.com/read/28087736/imputation-of-orofacial-clefting-data-identifies-novel-risk-loci-and-sheds-light-on-the-genetic-background-of-cleft-lip-%C3%A2-cleft-palate-and-cleft-palate-only
#1
Kerstin U Ludwig, Anne C Böhmer, John Bowes, Miloš Nikolić, Nina Ishorst, Niki Wyatt, Nigel L Hammond, Lina Gölz, Frederic Thieme, Sandra Barth, Hannah Schuenke, Johanna Klamt, Malte Spielmann, Khalid Aldhorae, Augusto Rojas-Martinez, Markus M Nöthen, Alvaro Rada-Iglesias, Michael J Dixon, Michael Knapp, Elisabeth Mangold
Nonsyndromic cleft lip with or without cleft palate (nsCL/P) is among the most common human birth defects with multifactorial etiology. Here, we present results from a genome-wide imputation study of nsCL/P in which, after adding replication cohort data, four novel risk loci for nsCL/P are identified (at chromosomal regions 2p21, 14q22, 15q24 and 19p13). On a systematic level, we show that the association signals within this high-density dataset are enriched in functionally-relevant genomic regions that are active in both human neural crest cells (hNCC) and mouse embryonic craniofacial tissue...
January 13, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28087321/enteric-nervous-system-development-a-crest-cell-s-journey-from-neural-tube-to-colon
#2
REVIEW
Nandor Nagy, Allan M Goldstein
The enteric nervous system (ENS) is comprised of a network of neurons and glial cells that are responsible for coordinating many aspects of gastrointestinal (GI) function. These cells arise from the neural crest, migrate to the gut, and then continue their journey to colonize the entire length of the GI tract. Our understanding of the molecular and cellular events that regulate these processes has advanced significantly over the past several decades, in large part facilitated by the use of rodents, avians, and zebrafish as model systems to dissect the signals and pathways involved...
January 10, 2017: Seminars in Cell & Developmental Biology
https://www.readbyqxmd.com/read/28079995/effects-of-cell-cycle-phases-on-the-induction-of-dental-pulp-stem-cells-toward-dopaminergic-like-cells
#3
Nareshwaran Gnanasegaran, Vijayendran Govindasamy, Premasangery Kathirvaloo, Sabri Musa, Noor Hayaty Abu Kasim
Parkinson's disease (PD) is characterized by tremors and cognitive issues, and is due to the death of dopaminergic (DA-ergic) neurons in brain circuits that are responsible for producing neurotransmitter dopamine (DA). Currently, cell replacement therapies are underway to overcome existing therapeutic approaches such as drug treatments and electrical stimulation. Among the widely available sources, dental pulp stem cells from deciduous teeth (DPSC) have gained popularity due to their neural crest origin and inherent propensity toward neuronal lineage...
January 12, 2017: Journal of Tissue Engineering and Regenerative Medicine
https://www.readbyqxmd.com/read/28075051/bilateral-multifocal-upper-extremity-atypical-granular-cell-tumors-presenting-as-long-standing-right-wrist-and-left-hand-masses-in-a-15-year-old-african-american-female
#4
Michael DeWall, Corey O Montgomery, Jerad M Gardner
Granular cell tumor (GrCT) is a benign nerve sheath tumor. Atypical and malignant variants of GrCT are rare but have been well described. We report a case of multifocal symmetric atypical GrCT in the bilateral hand/wrists of a 15 year old African American female. The initial clinical impression for both masses were favored to be ganglion cysts. Ultrasound findings of both masses revealed hypoechoic soft tissue lesions with some internal echogenicity favoring complex cysts. On excision, both masses were histologically circumscribed, lobulated, and attached to tendon...
January 11, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28070746/boundary-cap-neural-crest-stem-cells-promote-survival-of-mutant-sod1-motor-neurons
#5
Tanya Aggarwal, Jan Hoeber, Patrik Ivert, Svitlana Vasylovska, Elena N Kozlova
ALS is a devastating disease resulting in degeneration of motor neurons (MNs) in the brain and spinal cord. The survival of MNs strongly depends on surrounding glial cells and neurotrophic support from muscles. We previously demonstrated that boundary cap neural crest stem cells (bNCSCs) can give rise to neurons and glial cells in vitro and in vivo and have multiple beneficial effects on co-cultured and co-implanted cells, including neural cells. In this paper, we investigate if bNCSCs may improve survival of MNs harboring a mutant form of human SOD1 (SOD1(G93A)) in vitro under normal conditions and oxidative stress and in vivo after implantation to the spinal cord...
January 9, 2017: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/28069795/intraflagellar-transport-88-ift88-is-crucial-for-craniofacial-development-in-mice-and-is-a-candidate-gene-for-human-cleft-lip-and-palate
#6
Hua Tian, Jifan Feng, Jingyuan Li, Thach-Vu Ho, Yuan Yuan, Yang Liu, Frederick Brindopke, Jane C Figueiredo, William Magee, Pedro A Sanchez-Lara, Yang Chai
Ciliopathies are pleiotropic human diseases resulting from defects of the primary cilium, and these patients often have cleft lip and palate. IFT88 is required for the assembly and function of the primary cilia, which mediate the activity of key developmental signaling pathways. Through whole exome sequencing of a family of three affected siblings with isolated cleft lip and palate, we discovered that they share a novel missense mutation in IFT88 (c.915G>C, p.E305D), suggesting this gene should be considered a candidate for isolated orofacial clefting...
January 9, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28069687/adaptive-resistance-of-melanoma-cells-to-raf-inhibition-via-reversible-induction-of-a-slowly-dividing-de-differentiated-state
#7
Mohammad Fallahi-Sichani, Verena Becker, Benjamin Izar, Gregory J Baker, Jia-Ren Lin, Sarah A Boswell, Parin Shah, Asaf Rotem, Levi A Garraway, Peter K Sorger
Treatment of BRAF-mutant melanomas with MAP kinase pathway inhibitors is paradigmatic of the promise of precision cancer therapy but also highlights problems with drug resistance that limit patient benefit. We use live-cell imaging, single-cell analysis, and molecular profiling to show that exposure of tumor cells to RAF/MEK inhibitors elicits a heterogeneous response in which some cells die, some arrest, and the remainder adapt to drug. Drug-adapted cells up-regulate markers of the neural crest (e.g., NGFR), a melanocyte precursor, and grow slowly...
January 9, 2017: Molecular Systems Biology
https://www.readbyqxmd.com/read/28062562/keep-your-friends-close-cell-cell-contact-and-skeletal-myogenesis
#8
Robert S Krauss, Giselle A Joseph, Aviva J Goel
Development of skeletal muscle is a multistage process that includes lineage commitment of multipotent progenitor cells, differentiation and fusion of myoblasts into multinucleated myofibers, and maturation of myofibers into distinct types. Lineage-specific transcriptional regulation lies at the core of this process, but myogenesis is also regulated by extracellular cues. Some of these cues are initiated by direct cell-cell contact between muscle precursor cells themselves or between muscle precursors and cells of other lineages...
January 6, 2017: Cold Spring Harbor Perspectives in Biology
https://www.readbyqxmd.com/read/28061353/created-of-warm-blood-and-nerves-restoring-an-enteric-nervous-system-in-organoids
#9
Christopher R Schlieve, Tracy C Grikscheit
The enteric nervous system (ENS) regulates numerous gastrointestinal functions, including epithelial barrier permeability and motility. In a recent Nature Medicine study, Workman et al. (2016) propose a method for introducing human pluripotent stem cell-derived enteric neural crest cells into developing human intestinal organoids, thereby restoring ENS cell types and contractile function.
January 5, 2017: Cell Stem Cell
https://www.readbyqxmd.com/read/28060794/postnatal-human-enteric-neuronal-progenitors-can-migrate-differentiate-and-proliferate-in-embryonic-and-postnatal-aganglionic-gut-environments
#10
Lily S Cheng, Ryo Hotta, Hannah K Graham, Jaime Belkind-Gerson, Nandor Nagy, Allan M Goldstein
BACKGROUND: Enteric neural stem/progenitor cells (ENSCs) offer an innovative approach to treating Hirschsprung disease (HSCR) and other enteric neuropathies. However, postnatal-derived human ENSCs have not been thoroughly characterized and their behavior in the embryonic and postnatal intestinal environment is unknown. METHODS: ENSCs were isolated from the intestines of 25 patients undergoing bowel resection, including 7 children with HSCR. Neuronal differentiation and proliferation of ENSCs from submucosal and myenteric plexuses from patients with and without HSCR were characterized...
January 6, 2017: Pediatric Research
https://www.readbyqxmd.com/read/28055978/research-progress-of-neuroblastoma-related-gene-variations
#11
REVIEW
Yanna Cao, Yan Jin, Jinpu Yu, Jingfu Wang, Jie Yan, Qiang Zhao
Neuroblastoma, the most common extracranial solid tumor among children, is an embryonal tumor originating from undifferentiated neural crest cell. Neuroblastomas are highly heterogeneous, represented by the wide range of clinical presentations and likelihood of cure, ranging from spontaneous regression to relentless progression despite rigorous multimodal treatments. Approximately, 50% of cases are high-risk with overall survival rates less than 40%. With the efforts to collect large numbers of clinically annotated specimens and the advancements in technologies, researchers have revealed numerous genetic alterations that may drive tumor growth...
December 31, 2016: Oncotarget
https://www.readbyqxmd.com/read/28046103/transcriptome-profiling-identifies-ribosome-biogenesis-as-a-target-of-alcohol-teratogenicity-and-vulnerability-during-early-embryogenesis
#12
Mark E Berres, Ana Garic, George R Flentke, Susan M Smith
Fetal alcohol spectrum disorder (FASD) is a leading cause of neurodevelopmental disability. Individuals with FASD may exhibit a characteristic facial appearance that has diagnostic utility. The mechanism by which alcohol disrupts craniofacial development is incompletely understood, as are the genetic factors that can modify individual alcohol vulnerability. Using an established avian model, we characterized the cranial transcriptome in response to alcohol to inform the mechanism underlying these cells' vulnerability...
2017: PloS One
https://www.readbyqxmd.com/read/28043919/a-spontaneous-and-novel-pax3-mutant-mouse-that-models-waardenburg-syndrome-and-neural-tube-defects
#13
Tetsuo Ohnishi, Ikuo Miura, Hisako Ohba, Chie Shimamoto, Yoshimi Iwayama, Shigeharu Wakana, Takeo Yoshikawa
BACKGROUND: Genes responsible for reduced pigmentation phenotypes in rodents are associated with human developmental defects, such as Waardenburg syndrome, where patients display congenital deafness along with various abnormalities mostly related to neural crest development deficiency. OBJECTIVE: In this study, we identified a spontaneous mutant mouse line Rwa, which displays variable white spots on mouse bellies and white digits and tail, on a C57BL/6N genetic background...
December 30, 2016: Gene
https://www.readbyqxmd.com/read/28043883/trigeminal-ganglioneuroma-a-rare-cause-of-trigeminal-neuralgia-caused-by-cerebello-pontine-angle-tumor
#14
Nadeem Khan, Alex Michael, Ali Choucair, Esther Bit-Ivan
Intracranial ganglioneuromas are very rare benign tumors of neural crest origin and generally arise from peripheral nervous system or adrenal glands. Very few cases of intracranial ganglioneuroma arising from the trigeminal nerve have been reported in literature so far. Out of those reported, all have been recognized in Eastern Asia. We report a rare case of trigeminal ganglioneuroma in a 52-year-old Caucasian male presenting with right trigeminal neuralgia.
December 30, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/28038695/national-trends-in-the-surgical-management-of-adolescent-idiopathic-scoliosis-analysis-of-a-national-estimate-of-60-108-children-from-the-national-inpatient-sample-over-a-13-year-time-period-in-the-united-states
#15
Alexander A Theologis, David C Sing, Faraaz Chekeni, Mohammad Diab
STUDY DESIGN: Analysis of Nationwide Inpatient Sample (NIS). OBJECTIVE: Evaluate evolution of operative treatment of adolescent idiopathic scoliosis (AIS). SUMMARY OF BACKGROUND DATA: Spinal surgery is one of the most rapidly evolving branches of surgery. Changes in AIS operations are incompletely defined. METHODS: Children (10-18 years) with ICD-9 diagnosis of idiopathic scoliosis who underwent thoracic and/or lumbar spinal fusion identified in the NIS (1998-2011) were analyzed...
January 2017: Spine Deformity
https://www.readbyqxmd.com/read/28035989/neuroblastoma-a-paradigm-for-big-data-science-in-pediatric-oncology
#16
REVIEW
Brittany M Salazar, Emily A Balczewski, Choong Yong Ung, Shizhen Zhu
Pediatric cancers rarely exhibit recurrent mutational events when compared to most adult cancers. This poses a challenge in understanding how cancers initiate, progress, and metastasize in early childhood. Also, due to limited detected driver mutations, it is difficult to benchmark key genes for drug development. In this review, we use neuroblastoma, a pediatric solid tumor of neural crest origin, as a paradigm for exploring "big data" applications in pediatric oncology. Computational strategies derived from big data science-network- and machine learning-based modeling and drug repositioning-hold the promise of shedding new light on the molecular mechanisms driving neuroblastoma pathogenesis and identifying potential therapeutics to combat this devastating disease...
December 27, 2016: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28034674/combination-of-exogenous-cell-transplantation-and-5-ht4-receptor-agonism-induce-endogenous-enteric-neural-crest-derived-cells-in-a-rat-hypoganglionosis-model
#17
Hui Yu, Bai-Jun Zheng, Wei-Kang Pan, Huai-Jie Wang, Chong Xie, Yu-Ying Zhao, Xin-Lin Chen, Yong Liu, Ya Gao
Enteric neural crest-derived cells (ENCCs) can migrate into endogenous ganglia and differentiate into progeny cells, and have even partially rescued bowel function; however, poor reliability and limited functional recovery after ENCC transplantation have yet to be addressed. Here, we investigated the induction of endogenous ENCCs by combining exogenous ENCC transplantation with a 5-HT4 receptor agonist mosapride in a rat model of hypoganglionosis, established by benzalkonium chloride treatment. ENCCs, isolated from the gut of newborn rats, were labeled with a lentiviral eGFP reporter...
December 26, 2016: Experimental Cell Research
https://www.readbyqxmd.com/read/28031967/developmental-origin-of-postnatal-cardiomyogenic-progenitor-cells
#18
Yuan-Hung Liu, Ling-Ping Lai, Shih-Yun Huang, Yi-Shuan Lin, Shinn-Chih Wu, Chih-Jen Chou, Jiunn-Lee Lin
AIM: To trace the cell origin of the cells involved in postnatal cardiomyogenesis. MATERIALS & METHODS: Nkx2.5 enhancer-eGFP (Nkx2.5 enh-eGFP) mice were used to test the cardiomyogenic potential of Nkx2.5 enhancer-expressing cells. By analyzing Cre excision of activated Nkx2.5-eGFP+ cells from different lineage-Cre/Nkx2.5 enh-eGFP/ROSA26 reporter mice, we traced the developmental origin of Nkx2.5 enhancer-expressing cells. RESULTS: Nkx2.5 enhancer-expressing cells could differentiate into striated cardiomyocytes both in vitro and in vivo...
June 2016: Future Science OA
https://www.readbyqxmd.com/read/28026856/gene-tracing-analysis-reveals-the-contribution-of-neural-crest-derived-cells-in-pituitary-development
#19
Hiroki Ueharu, Saishu Yoshida, Takako Kikkawa, Naoko Kanno, Masashi Higuchi, Takako Kato, Noriko Osumi, Yukio Kato
The anterior pituitary originates from the adenohypophyseal placode. Both the preplacode region and neural crest (NC) derive from subdivision of the neural border region, and further individualization of the placode domain is established by a reciprocal interaction between placodal precursors and NC cells (NCCs). It has long been known that NCCs are present in the adenohypophysis as interstitial cells. A recent report demonstrated that NCCs also contribute to the formation of pericytes in the developing pituitary...
December 27, 2016: Journal of Anatomy
https://www.readbyqxmd.com/read/28012818/tissue-specific-regulation-of-the-chick-sox10e1-enhancer-by-different-sox-family-members
#20
Christina Murko, Marianne E Bronner
The transcription factor Sox10 is a key regulator of vertebrate neural crest development and serves crucial functions in the differentiation of multiple neural crest lineages. In the chick neural crest, two cis-regulatory elements have been identified that mediate Sox10 expression: Sox10E2, which initiates expression in cranial neural crest; Sox10E1 driving expression in vagal and trunk neural crest. Both also mediate Sox10 expression in the otic placode. Here, we have dissected and analyzed the Sox10E1 enhancer element to identify upstream regulatory inputs...
December 22, 2016: Developmental Biology
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