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https://www.readbyqxmd.com/read/28528193/novel-missense-loss-of-function-mutations-of-wnt1-in-an-autosomal-recessive-osteogenesis-imperfecta-patient
#1
Joon Yeon Won, Woo Young Jang, Hye-Ran Lee, Seon Young Park, Woo-Young Kim, Jong Hoon Park, Yonghwan Kim, Tae-Joon Cho
Osteogenesis imperfecta (OI) is a heritable skeletal disorder characterized by bone fragility and low bone mass. Recently, loss-of-function mutations of WNT1 have been reported to be causative in OI or osteoporosis. We report an OI patient with novel compound heterozygous WNT1 missense mutations, p.Glu123Asp and p.Cys153Gly. Both mutations are found in the exon 3, and the p.Glu123Asp is the most proximal N-terminus missense mutation among the reported WNT1 missense mutations in OI patients. In vitro functional analysis reveals that while expression of wildtype WNT1 stimulates canonical WNT1-mediated β-catenin signaling, that of individual WNT1 mutant fails to do so, indicative of the pathogenic nature of the WNT1 variants...
May 17, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28510291/associations-between-rna-splicing-regulatory-variants-of-stemness-related-genes-and-racial-disparities-in-susceptibility-to-prostate-cancer
#2
Yanru Wang, Jennifer A Freedman, Hongliang Liu, Patricia G Moorman, Terry Hyslop, Daniel J George, Norman H Lee, Steven R Patierno, Qingyi Wei
Evidence suggests that cells with a stemness phenotype play a pivotal role in oncogenesis, and prostate cells exhibiting this phenotype have been identified. We used two genome-wide association study (GWAS) datasets of African descendants, from the Multiethnic/Minority Cohort Study of Diet and Cancer (MEC) and the Ghana Prostate Study, as well as two GWAS datasets of non-Hispanic whites, from the Prostate, Lung, Colorectal and Ovarian (PLCO) Cancer Screening Trial and the Breast and Prostate Cancer Cohort Consortium (BPC3), to analyze the associations between genetic variants of stemness-related genes and racial disparities in susceptibility to prostate cancer...
May 16, 2017: International Journal of Cancer. Journal International du Cancer
https://www.readbyqxmd.com/read/28496206/wisp1-ccn4-inhibits-adipocyte-differentiation-through-repression-of-ppar%C3%AE-activity
#3
Nathalie Ferrand, Véronique Béreziat, Marthe Moldes, Maurice Zaoui, Annette K Larsen, Michèle Sabbah
WISP1 (Wnt1-inducible signaling pathway protein-1, also known as CCN4) is a member of the CCN family able to mediate cell growth, transformation and survival in a tissue-specific manner. Here, we report that WISP1 expression was highly increased in preadipocytes and decreased during adipocyte differentiation. Moreover, we observed an increase in WISP1 gene expression in adipose tissue from both diet-induced and leptin-deficient ob/ob obese mice, suggesting that WISP1 could be involved in the pathophysiological onset of obesity...
May 11, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28493069/comparison-of-molecular-marker-expression-in-early-zebrafish-brain-development-following-chronic-ethanol-or-morpholino-treatment
#4
Chengjin Zhang, Oswald Boa-Amponsem, Gregory J Cole
This study was undertaken to ascertain whether defined markers of early zebrafish brain development are affected by chronic ethanol exposure or morpholino knockdown of agrin, sonic hedgehog, retinoic acid, and fibroblast growth factors, four signaling molecules that are suggested to be ethanol sensitive. Zebrafish embryos were exposed to 2% ethanol from 6 to 24 hpf or injected with agrin, shha, aldh1a3, or fgf8a morpholinos. In situ hybridization was employed to analyze otx2, pax6a, epha4a, krx20, pax2a, fgf8a, wnt1, and eng2b expression during early brain development...
May 10, 2017: Experimental Brain Research. Experimentelle Hirnforschung. Expérimentation Cérébrale
https://www.readbyqxmd.com/read/28485721/sost-silencing-promotes-proliferation-and-invasion-and-reduces-apoptosis-of-retinoblastoma-cells-by-activating-wnt-%C3%AE-catenin-signaling-pathway
#5
T Wu, L-N Wang, D-R Tang, F-Y Sun
This study aimed to investigate the effects of SOST and the Wnt/β-catenin signaling pathway on the proliferation, migration, invasion, and apoptosis of human retinoblastoma cells. Fifty-five retinoblastoma and 21 normal retinal tissue samples were collected as the case group and control group, respectively. HXO-RB44 and SO-RB50 cells were selected and assigned into blank, negative control (NC), siRNA1, siRNA2, siRNA3, IWR-1-endo 1, IWR-1-endo 2, and IWR-1-endo 3 groups. Quantitative real-time polymerase chain reaction (qRT-PCR) was applied to detect the expression of SOST, Wnt1, and β-catenin in the collected tissue samples...
May 9, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28484278/role-of-gata-binding-protein-4-gata4-in-the-regulation-of-tooth-development-via-gnai3
#6
Shuyu Guo, Yuxin Zhang, Tingting Zhou, Dongyue Wang, Yajuan Weng, Lin Wang, Junqing Ma
Transcription factor GATA4 regulates cardiac and osteoblast differentiation. However, its role in tooth development is not clear. Therefore, we generated Wnt1-Cre;GATA4 (fl/fl) mice, with conditional inactivation of the GATA4 gene in the dental papilla mesenchymal cells. Phenotypic analysis showed short root deformity along with reduced expressions of odonto/osteogenic markers. Proliferation (but not apoptosis) of cells around the apical area of the root was attenuated. In vitro, we knocked down GATA4 expression in stem cells of dental apical papilla (SCAPs)...
May 8, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28465477/wisp-3-inhibition-of-mir-452-promotes-vegf-a-expression-in-chondrosarcoma-cells-and-induces-endothelial-progenitor-cells-angiogenesis
#7
Chih-Yang Lin, Huey-En Tzeng, Te-Mao Li, Hsien-Te Chen, Yi Lee, Yi-Chen Yang, Shih-Wei Wang, Wei-Hung Yang, Chih-Hsin Tang
Chondrosarcoma is the second most prevalent general primary tumor of bone following osteosarcoma. Chondrosarcoma development may be linked to angiogenesis, which is principally elicited by vascular endothelial growth factor-A (VEGF-A). VEGF-A level has been recognized as a prognostic marker in angiogenesis. WNT1-inducible signaling pathway protein-3 (WISP)-3/CCN6 belongs to the CCN family and is involved in regulating several cellular functions, including cell proliferation, differentiation, and migration. Nevertheless, the effect of WISP-3 on VEGF-A production and angiogenesis in human chondrosarcoma remains largely unknown...
April 17, 2017: Oncotarget
https://www.readbyqxmd.com/read/28464803/the-repressive-effect-of-mir-148a-on-wnt-%C3%AE-catenin-signaling-involved-in-glabridin-induced-anti-angiogenesis-in-human-breast-cancer-cells
#8
Juan Mu, Dongmei Zhu, Zhaoxia Shen, Shilong Ning, Yun Liu, Juan Chen, Yuan Li, Zhong Li
BACKGROUND: Glabridin (GLA), a major component extracted from licorice root, has anti-inflammatory and antioxidant activities, but few studies report its mechanism of inhibition of angiogenesis. This study was an extension of our previous work, which demonstrated that GLA suppressed angiogenesis in human breast cancer (MDA-MB-231 and Hs-578T) cells. Breast cancer is one of the most common malignant diseases in females worldwide, and the major cause of mortality is metastasis that is primarily attributed to angiogenesis...
May 2, 2017: BMC Cancer
https://www.readbyqxmd.com/read/28456913/the-effect-and-osteoblast-signaling-response-of-trace-silicon-doping-hydroxyapatite
#9
Tian Sun, Ming Wang, Yiran Shao, Liping Wang, Yingchun Zhu
It is commonly accepted that silicon-doped hydroxyapatite (HAp) can achieve good repair effects for both spinal fusion and bone defect filling. However, the underlying mechanism by which silicon aids such beneficial effects is still not fully understood. Herein, we report on silicon-doped hydroxyapatites with excellent biocompatibility to osteoblast cells and suggest the signaling pathway involved. Non-doped HAp and trace Si-doped HAp (Si/HAp) with Si concentration close to and higher than natural bones were synthesized (i...
April 29, 2017: Biological Trace Element Research
https://www.readbyqxmd.com/read/28450263/wls-expression-in-the-rhombic-lip-orchestrates-the-embryonic-development-of-the-mouse-cerebellum
#10
Joanna Yeung, Daniel Goldowitz
Wntless (Wls) is implicated in the Wnt signaling pathway by regulating the secretion of Wnt molecules. During brain development, Wls is expressed in the isthmic organizer (ISO) and rhombic lip (RL). Wls regulates Wnt1 secretion at the ISO which is required to induce midbrain-hindbrain structures. However, Wls function in the RL is not known. Here, we employed Nestin-cre to delete Wls specifically in the RL during mid-gestation. The loss-of-Wls leads to an abnormal RL during development and cerebellar vermis hypoplasia at birth...
April 24, 2017: Neuroscience
https://www.readbyqxmd.com/read/28447744/cyclic-compression-stimulates-osteoblast-differentiation-via-activation-of-the-wnt-%C3%AE-catenin-signaling-pathway
#11
Xi Chen, Jianmin Guo, Yu Yuan, Zhongguang Sun, Binglin Chen, Xiaoyang Tong, Lingli Zhang, Chao Shen, Jun Zou
It is widely accepted that mechanical stress is an important factor in bone associated cell differentiation, including that of mesenchymal stem cells, osteoblasts and osteocytes. The present study aimed to determine the effect of mechanical cyclic compressive load on osteoblast differentiation, and whether this was associated with activation of the wingless‑type (Wnt)/β-catenin signaling pathway. Using a 3D scaffold model, MC3T3‑E1 cells were exposed to cyclic compressive loading via the Flexcell‑5000C™ Compression system...
May 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28443299/data-on-the-mrna-expression-by-in-situ-hybridization-of-wnt-signaling-pathway-members-in-the-mouse-uterus
#12
Jyoti Goad, Yi-An Ko, Shafiq M Syed, Yazmin J Crossingham, Pradeep S Tanwar
Wnt signaling plays an important role in uterine organogenesis and oncogenesis. Our mRNA expression data documents the expression of various Wnt pathway members during the key stages of uterine epithelial gland development. Our data illustrates the expression of Wnt signaling inhibitors (Axin2, Sfrp2, Sfrp4, Dkk1 and Dkk3) in mice uteri at postnatal day 6 (PND 6) and day 15 (PND 15). They also describe the expression pattern of the Wnt ligands (Wnt1, Wnt2, Wnt2b, Wnt3, Wnt3a, Wnt5b, Wnt7b, Wnt8a, Wnt8b, Wnt9a, Wnt9b, Wnt10a and Wnt10b) in mice uteri with or without progesterone treatment...
June 2017: Data in Brief
https://www.readbyqxmd.com/read/28426731/effect-of-genetic-variation-in-microrna-binding-site-in-wnt1-inducible-signaling-pathway-protein-1-gene-on-oral-squamous-cell-carcinoma-susceptibility
#13
Hon-Kit Lau, Edie-Rosmin Wu, Mu-Kuan Chen, Ming-Ju Hsieh, Shun-Fa Yang, Lyu-Yao Wang, Ying-Erh Chou
BACKGROUND: Oral squamous cell carcinoma (OSCC), which is the most common head and neck cancer, accounts for 1%-2% of all human malignancies and is characterized by poor prognosis and reduced survival rates. WNT1-inducible signaling pathway protein 1 (WISP1), a cysteine-rich protein belonging to the Cyr61, CTGF, Nov (CCN) family of matricellular proteins, has many developmental functions and may be involved in carcinogenesis. This study investigated WISP1 single-nucleotide polymorphisms (SNPs) to elucidate OSCC susceptibility and clinicopathologic characteristics...
2017: PloS One
https://www.readbyqxmd.com/read/28411110/impaired-wnt-signaling-and-the-spine-heterozygous-wnt1-mutation-causes-severe-age-related-spinal-pathology
#14
Riikka E Mäkitie, Tuukka Niinimäki, Miika T Nieminen, Camilla Schalin-Jäntti, Jaakko Niinimäki, Outi Mäkitie
BACKGROUND: WNT signaling plays a major role in bone and cartilage metabolism. Impaired WNT/β-catenin signaling leads to early-onset osteoporosis, but specific features in bone and other tissues remain inadequately characterized. We have identified two large Finnish families with early-onset osteoporosis due to a heterozygous WNT1 mutation c.652T>G, p.C218G. This study evaluated the impact of impaired WNT/β-catenin signaling on spinal structures. METHODS: Altogether 18 WNT1 mutation-positive (age range 11-76years, median 49years) and 14 mutation-negative subjects (10-77years, median 43years) underwent magnetic resonance imaging (MRI) of the spine...
April 11, 2017: Bone
https://www.readbyqxmd.com/read/28406476/wisp-1-positively-regulates-angiogenesis-by-controlling-vegf-a-expression-in-human-osteosarcoma
#15
Hsiao-Chi Tsai, Huey-En Tzeng, Chun-Yin Huang, Yuan-Li Huang, Chun-Hao Tsai, Shih-Wei Wang, Po-Chuan Wang, An-Chen Chang, Yi-Chin Fong, Chih-Hsin Tang
In recent years, much research has focused on the role of angiogenesis in osteosarcoma, which occurs predominantly in adolescents and young adults. The vascular endothelial growth factor-A (VEGF-A) pathway is the key regulator of angiogenesis and in osteosarcoma. VEGF-A expression has been recognized as a prognostic marker in angiogenesis. Aberrant WNT1-inducible signaling pathway protein-1 (WISP-1) expression is associated with various cancers. However, the function of WISP-1 in osteosarcoma angiogenesis is poorly understood...
April 13, 2017: Cell Death & Disease
https://www.readbyqxmd.com/read/28403963/the-wnt-%C3%AE-catenin-signaling-pathway-may-be-involved-in-granulosa-cell-apoptosis-from-patients-with-pcos-in-north-china
#16
X-Q Wu, Y-Q Wang, S-M Xu, J-F Liu, X-Y Bi, Z-Q Wang, J-P Zhang
INTRODUCTION: Investigate the expressions of WNTs in granulosa cells of PCOS in North China, and explore the possible mechanism. MATERIAL AND METHODS: Patients with PCOS (n=40) and controls without PCOS (n=20) were enrolled into the study. The levels of serum sex hormone were detected by chemiluminescent enzyme immunoassay. RT-qPCR was used to measure mRNA levels of WNT family members (WNT1, WNT3, WNT4, WNT5, sFRP4 and sFRP5). The levels of Bax and Bcl-2 were measured by enzyme-linked immunosorbent assay...
January 2017: J Gynecol Obstet Hum Reprod
https://www.readbyqxmd.com/read/28379384/osteocyte-protein-expression-is-altered-in-low-turnover-osteoporosis-caused-by-mutations-in-wnt1-and-pls3
#17
Katherine Wesseling-Perry, Riikka E Mäkitie, Ville-Valtteri Välimäki, Tero Laine, Christine M Laine, Matti J Välimäki, Renata C Pereira, Outi Mäkitie
Context: Osteocytes express proteins that regulate bone remodeling and mineralization as well as osteoblast and adipocyte differentiation. Objective: To evaluate the relationship between osteocyte-specific protein expression and bone histology in patients with monogenic osteoporosis due to WNT1 or PLS3 mutations. Design and Setting: Cross-sectional cohort study at a University Hospital. Participants: 6 patients (4 males, age range 14-72 years) with a heterozygous WNT1 mutation and 5 patients (4 males, age 9-70 years) with a hetero-/hemizygous PLS3 mutation...
April 3, 2017: Journal of Clinical Endocrinology and Metabolism
https://www.readbyqxmd.com/read/28371069/specific-and-spatial-labeling-of-p0-cre-versus-wnt1-cre-in-cranial-neural-crest-in-early-mouse-embryos
#18
Guiqian Chen, Mohamed Ishan, Jingwen Yang, Satoshi Kishigami, Tomokazu Fukuda, Greg Scott, Manas K Ray, Chenming Sun, Shi-You Chen, Yoshihiro Komatsu, Yuji Mishina, Hong-Xiang Liu
P0-Cre and Wnt1-Cre mouse lines have been widely used in combination with loxP-flanked mice to label and genetically modify neural crest (NC) cells and their derivatives. Wnt1-Cre has been regarded as the gold standard and there have been concerns about the specificity of P0-Cre because it is not clear about the timing and spatial distribution of the P0-Cre transgene in labeling NC cells at early embryonic stages. We re-visited P0-Cre and Wnt1-Cre models in the labeling of NC cells in early mouse embryos with a focus on cranial NC...
March 29, 2017: Genesis: the Journal of Genetics and Development
https://www.readbyqxmd.com/read/28359679/activation-of-wnt-signaling-increases-numbers-of-enteric-neurons-derived-from-neonatal-mouse-and-human-progenitors%C3%A2-cells
#19
Ying Zhang, Karin Seid, Florian Obermayr, Lothar Just, Peter H Neckel
BACKGROUND & AIMS: Neural stem and progenitor cells from the enteric nervous system (ENS) might serve as a source of cells for treatment of neurogastrointestinal disorders. Before we can use these cells, we must increase our understanding of the signaling mechanisms that regulate proliferation and differentiation. We systematically evaluated the effects of canonical Wnt signaling on proliferation and differentiation of cultured ENS progenitor cells from neonatal mice and humans. METHODS: We isolated ENS progenitors from tunica muscularis of the small intestine of newborn (postnatal day 0) wild-type C57BL/6 mice as well as from Wnt1-Cre2 reporter mice...
March 27, 2017: Gastroenterology
https://www.readbyqxmd.com/read/28346501/a-tissue-specific-role-for-intraflagellar-transport-genes-during-craniofacial-development
#20
Elizabeth N Schock, Jaime N Struve, Ching-Fang Chang, Trevor J Williams, John Snedeker, Aria C Attia, Rolf W Stottmann, Samantha A Brugmann
Primary cilia are nearly ubiquitous, cellular projections that function to transduce molecular signals during development. Loss of functional primary cilia has a particularly profound effect on the developing craniofacial complex, causing several anomalies including craniosynostosis, micrognathia, midfacial dysplasia, cleft lip/palate and oral/dental defects. Development of the craniofacial complex is an intricate process that requires interactions between several different tissues including neural crest cells, neuroectoderm and surface ectoderm...
2017: PloS One
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