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https://www.readbyqxmd.com/read/29610615/surgical-management-of-facial-features-of-robinow-syndrome-a-case-report
#1
Aida M Mossaad, Moustapha A Abdelrahman, Mostafa A Ibrahim, Hatem H Al Ahmady
BACKGROUND: Robinow Syndrome is an extremely rare genetic disorder characterised by abnormalities in head, face and external genitalia. This disorder exists in dominant pattern with moderate symptoms and recessive pattern with more physical and skeletal abnormalities. It was first introduced by Menihard Robinow in 1969. It was related to chromosome 9q22 ROR2 gene related to bone and cartilage growth aspects. CASE PRESENTATION: A 17-year-old Egyptian male presented to National Research Centre Orodental genetics Clinic with typical features of short stature and facial dysmorphism weighted 50 Kg and measured 150 cm height complaining of facial dis figurement...
March 15, 2018: Open Access Macedonian Journal of Medical Sciences
https://www.readbyqxmd.com/read/29575631/biallelic-loss-of-function-wnt5a-mutations-in-an-infant-with-severe-and-atypical-manifestations-of-robinow-syndrome
#2
Johannes Birgmeier, Edward D Esplin, Karthik A Jagadeesh, Harendra Guturu, Aaron M Wenger, Hassan Chaib, Julia A Buckingham, Gill Bejerano, Jonathan A Bernstein
Robinow syndrome (RS) is a well-recognized Mendelian disorder known to demonstrate both autosomal dominant and autosomal recessive inheritance. Typical manifestations include short stature, characteristic facies, and skeletal anomalies. Recessive inheritance has been associated with mutations in ROR2 while dominant inheritance has been observed for mutations in WNT5A, DVL1, and DVL3. Through trio whole genome sequencing, we identified a homozygous frameshifting single nucleotide deletion in WNT5A in a previously reported, deceased infant with a unique constellation of features comprising a 46,XY disorder of sex development with multiple congenital malformations including congenital diaphragmatic hernia, ambiguous genitalia, dysmorphic facies, shortened long bones, adactyly, and ventricular septal defect...
April 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29474941/blocking-wnt5a-signaling-decreases-cd36-expression-and-foam-cell-formation-in-atherosclerosis
#3
Ian Ackers, Candice Szymanski, K Jordan Duckett, Leslie A Consitt, Mitchell J Silver, Ramiro Malgor
BACKGROUND AND AIMS: Wnt5a is a highly studied member of the Wnt family and recently has been implicated in the pathogenesis of atherosclerosis, but its precise role is unknown. Foam cell development is a critical process to atherosclerotic plaque formation. In the present study, we investigated the role of noncanonical Wnt5a signaling in the development of foam cells. METHODS: Human carotid atherosclerotic tissue and THP-1-derived macrophages were used to investigate the contribution of Wnt5a signaling in the formation of foam cells...
February 20, 2018: Cardiovascular Pathology: the Official Journal of the Society for Cardiovascular Pathology
https://www.readbyqxmd.com/read/29465811/ck1%C3%AE%C2%B5-and-p120-catenin-control-ror2-function-in-non-canonical-wnt-signaling
#4
Josué Curto, Beatriz Del Valle-Pérez, Aida Villarroel, Guillem Fuertes, Meritxell Vinyoles, Raúl Peña, Antonio García de Herreros, Mireia Duñach
Canonical and non-canonical Wnt pathways share some common elements but differ in the responses they evoke. Similar to Wnt ligands acting through the canonical pathway, Wnts that activate the non-canonical signaling, such as Wnt5a, promote Disheveled (Dvl) phosphorylation and its binding to the Frizzled (Fz) Wnt receptor complex. The protein kinase CK1ε is required for Dvl/Fz association in both canonical and non-canonical signaling. Here we show that differently to its binding to canonical Wnt receptor complex, CK1ε does not require p120-catenin for the association with the Wnt5a co-receptor Ror2...
February 21, 2018: Molecular Oncology
https://www.readbyqxmd.com/read/29453334/%C3%AE-catenin-independent-regulation-of-wnt-target-genes-by-ror2-and-atf2-atf4-in-colon-cancer-cells
#5
Oksana Voloshanenko, Uwe Schwartz, Dominique Kranz, Benedikt Rauscher, Michael Linnebacher, Iris Augustin, Michael Boutros
Wnt signaling is an evolutionarily conserved signaling route required for development and homeostasis. While canonical, β-catenin-dependent Wnt signaling is well studied and has been linked to many forms of cancer, much less is known about the role of non-canonical, β-catenin-independent Wnt signaling. Here, we aimed at identifying a β-catenin-independent Wnt target gene signature in order to understand the functional significance of non-canonical signaling in colon cancer cells. Gene expression profiling was performed after silencing of key components of Wnt signaling pathway and an iterative signature algorithm was applied to predict pathway-dependent gene signatures...
February 16, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29395309/ror1-and-ror2-play-distinct-and-opposing-roles-in-endometrial-cancer
#6
C E Henry, E Llamosas, B Daniels, A Coopes, K Tang, C E Ford
OBJECTIVE: In recent years, the Wnt signalling pathway and the ROR1 and ROR2 receptors have been implicated in a range of gynecological cancers. These receptors have been described as prospective therapeutic targets, and this study investigated such potential in an endometrial cancer context. METHOD: Immunohistochemistry for ROR1 and ROR2 was performed in a patient cohort, and expression was correlated with clinicopathological parameters including type, stage, grade, myometrial invasion, lymphovascular involvement, patient age and survival...
March 2018: Gynecologic Oncology
https://www.readbyqxmd.com/read/29348860/silencing-ror1-and-ror2-inhibits-invasion-and-adhesion-in-an-organotypic-model-of-ovarian-cancer-metastasis
#7
Claire Henry, Neville Hacker, Caroline Ford
OBJECTIVE: Elevated expression of the ROR1 and ROR2 Wnt receptors has been noted in both the tumour and stromal compartments of ovarian cancer patient tissue samples. In vitro studies have suggested these receptors play a role in ovarian cancer metastasis. However, these previous studies have utilised simple 2D in vitro models to investigate cancer cell growth and migration, which does not allow investigation of stromal involvement in Wnt driven metastasis. AIM: To investigate targeting ROR1 and ROR2 using a primary co-culture 3D model of epithelial ovarian cancer dissemination to the omentum...
December 22, 2017: Oncotarget
https://www.readbyqxmd.com/read/29339085/wnt5a-mediates-chronic-post-thoracotomy-pain-by-regulating-non-canonical-pathways-nerve-regeneration-and-inflammation-in-rats
#8
Afang Zhu, Le Shen, Li Xu, Weiyun Chen, Yuguang Huang
As well-characterized ligands involved in neurogenesis, Wnts are emerging as promising targets in pain pathogenesis. Our previous pilot study showed that intrathecal inhibition of Wnt5a, but not Wnts, relieves chronic post-thoracotomy pain (CPTP) in rats. In the present study, we aimed to further explore the regulatory mechanism of Wnt5a in CPTP development. Increased protein levels of Wnt5a, transmembrane receptor Ror2, and activated non-canonical Wnt pathway members were found in the thoracic dorsal root ganglions from postoperative day (POD) 7 to POD 21...
April 2018: Cellular Signalling
https://www.readbyqxmd.com/read/29323050/long-non-coding-rna-nonmmug014387-promotes-schwann-cell-proliferation-after-peripheral-nerve-injury
#9
Bin Pan, Zhong-Ju Shi, Jia-Yin Yan, Jia-He Li, Shi-Qing Feng
Schwann cells play a critical role in peripheral nerve regeneration through dedifferentiation and proliferation. In a previous study, we performed microarray analysis of the sciatic nerve after injury. Accordingly, we predicted that long non-coding RNA NONMMUG014387 may promote Schwann cell proliferation after peripheral nerve injury, as bioinformatic analysis revealed that the target gene of NONMMUG014387 was collagen triple helix repeat containing 1 (Cthrc1). Cthrc1 may promote cell proliferation in a variety of cells by activating Wnt/PCP signaling...
December 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/29313214/backbone-and-side-chain-chemical-shift-assignments-of-the-kringle-domain-of-human-receptor-tyrosine-kinase-like-orphan-receptor-1-ror1
#10
Xiaofang Ma, Yingying Zhang, Bin Liu, Jiahui Yang, Kaifeng Hu
Receptor tyrosine kinase-like orphan receptor 1 (ROR1) expresses at high level in many cancers and has been suggested as a potential therapeutic target. It was reported that the Kringle (KNG) domain of ROR1 extracellular region is involved in ROR1/ROR2 heterooligomerization. Monoantibodies that target KNG domain of ROR1 could induce apoptosis of chronic lymphocytic leukemia cells. Here we present the backbone and side chain assignments of KNG domain of ROR1, which lays a foundation for its further structural and function research...
April 2018: Biomolecular NMR Assignments
https://www.readbyqxmd.com/read/29276006/wnt-signaling-perturbations-underlie-the-genetic-heterogeneity-of-robinow-syndrome
#11
Janson J White, Juliana F Mazzeu, Zeynep Coban-Akdemir, Yavuz Bayram, Vahid Bahrambeigi, Alexander Hoischen, Bregje W M van Bon, Alper Gezdirici, Elif Yilmaz Gulec, Francis Ramond, Renaud Touraine, Julien Thevenon, Marwan Shinawi, Erin Beaver, Jennifer Heeley, Julie Hoover-Fong, Ceren D Durmaz, Halil Gurhan Karabulut, Ebru Marzioglu-Ozdemir, Atilla Cayir, Mehmet B Duz, Mehmet Seven, Susan Price, Barbara Merfort Ferreira, Angela M Vianna-Morgante, Sian Ellard, Andrew Parrish, Karen Stals, Josue Flores-Daboub, Shalini N Jhangiani, Richard A Gibbs, Han G Brunner, V Reid Sutton, James R Lupski, Claudia M B Carvalho
Locus heterogeneity characterizes a variety of skeletal dysplasias often due to interacting or overlapping signaling pathways. Robinow syndrome is a skeletal disorder historically refractory to molecular diagnosis, potentially stemming from substantial genetic heterogeneity. All current known pathogenic variants reside in genes within the noncanonical Wnt signaling pathway including ROR2, WNT5A, and more recently, DVL1 and DVL3. However, ∼70% of autosomal-dominant Robinow syndrome cases remain molecularly unsolved...
January 4, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29213214/ror2-receptor-promotes-the-migration-of-osteosarcoma-cells-in-response-to-wnt5a
#12
Bin Dai, Ting Yan, Ailiang Zhang
Background: We have reported that the phosphatidylinositol-3 kinase (PI3K)/Akt/RhoA signaling pathway mediates Wnt5a-induced cell migration of osteosarcoma cells. However, the specific receptors responding to Wnt5a ligand remain poorly defined in osteosarcoma metastasis. Methods: Wound healing assays were used to measure the migration rate of osteosarcoma cells transfected with shRNA or siRNA specific against ROR2 or indicated constructs. We evaluated the RhoA activation in osteosarcoma MG-63 and U2OS cells with RhoA activation assay...
2017: Cancer Cell International
https://www.readbyqxmd.com/read/29162033/identification-of-genome-wide-snp-snp-interactions-associated-with-important-traits-in-chicken
#13
Hui Zhang, Jia-Qiang Yu, Li-Li Yang, Luke M Kramer, Xin-Yang Zhang, Wei Na, James M Reecy, Hui Li
BACKGROUND: In addition to additive genetic effects, epistatic interactions can play key roles in the control of phenotypic variation of traits of interest. In the current study, 475 male birds from lean and fat chicken lines were utilized as a resource population to detect significant epistatic effects associated with growth and carcass traits. RESULTS: A total of 421 significant epistatic effects were associated with testis weight (TeW), from which 11 sub-networks (Sub-network1 to Sub-network11) were constructed...
November 21, 2017: BMC Genomics
https://www.readbyqxmd.com/read/29151594/adipocytes-sustain-pancreatic-cancer-progression-through-a-non-canonical-wnt-paracrine-network-inducing-ror2-nuclear-shuttling
#14
C Carbone, G Piro, N Gaianigo, F Ligorio, R Santoro, V Merz, F Simionato, C Zecchetto, G Falco, G Conti, P T Kamga, M Krampera, F Di Nicolantonio, L De Franceschi, A Scarpa, G Tortora, D Melisi
BACKGROUND: Solid epidemiological evidences connect obesity with incidence, stage and survival in pancreatic cancer. However, the underlying mechanistic basis linking adipocytes to pancreatic cancer progression remain largely elusive. We hypothesized that factors secreted by adipocytes could be responsible for epithelial-to-mesenchymal transition (EMT) induction and, in turn, a more aggressive phenotype in models of pancreatic preneoplastic lesions. METHODS: We studied the role of factors secreted by two adipogenic model systems from primary human bone marrow stromal cells (hBMSCs) in an in vitro experimental cell transformation model system of human pancreatic ductal epithelial (HPDE) cell stably expressing activated KRAS (HPDE/KRAS),Results:We measured a significant induction of EMT and aggressiveness in HPDE and HPDE/KRAS cell lines when cultured with medium conditioned by fully differentiated adipocytes (ADIPOCM ) if compared with the same cells cultured with medium conditioned by hBMSC (hBMSCCM ) from two different healthy donors...
March 2018: International Journal of Obesity: Journal of the International Association for the Study of Obesity
https://www.readbyqxmd.com/read/29113233/higher-expression-level-of-tyrosine-kinase-like-orphan-receptor-2-and-wnt-member-5a-in-papillary-thyroid-carcinoma-is-associated-with-poor-prognosis
#15
Liang Chen, Lianmei Zhao, Mingjian Ding, Meng Yang, Wenhua Yang, Guozhong Cui, Baoen Shan
The tyrosine kinase-like orphan receptor 2 (ROR2) has a wnt-mediated, pro-tumorigenic role in certain types of cancer. The present study was designed to assess the protein expression level of ROR2 and its putative ligand Wnt member 5a (Wnt5a), as well as the association with clinicopathological features in papillary thyroid carcinoma (PTC). A total of 58 patients were recruited, resulting in 58 human PTC tissue samples and their paired adjacent noncancerous tissue samples being obtained. The protein expression levels of ROR2 and Wnt5a were evaluated by immunohistochemistry and western blotting, and messenger RNA expression levels were determined by reverse transcription-quantitative polymerase chain reaction...
November 2017: Oncology Letters
https://www.readbyqxmd.com/read/29070775/expression-of-ror2-associated-with-fibrosis-of-the-submandibular-gland
#16
Daiki Takahashi, Hiroaki Suzuki, Yasumasa Kakei, Kimi Yamakoshi, Yasuhiro Minami, Takahide Komori, Michiru Nishita
The submandibular gland (SMG) is one of the major salivary glands that play important roles for variety of physiological functions, such as digestion of foods, prevention of infection, and lubrication of the mouth. Dysfunction of the SMG, often associated with a salivary inflammation, adversely influences a person's quality of life. However, the mechanism underlying inflammation-driven dysfunction of the SMG is largely unknown. Here, we used a mouse model in which the main excretory duct of the SMG is ligated unilaterally to induce inflammation of the gland and examined the expression of Wnt5a, Ror1 and Ror2 genes, encoding Wnt5a ligand and its cognate receptors, which have been implicated in tissue damage or inflammatory responses in variety of tissues...
December 20, 2017: Cell Structure and Function
https://www.readbyqxmd.com/read/29058491/a-review-of-primary-thyroid-lymphoma-molecular-factors-diagnosis-and-management
#17
Efstathios T Pavlidis, Theodoros E Pavlidis
Purpose/aim: To focus on current aspects of primary thyroid lymphoma (PTL), which is a rare clinical entity usually manifested by a rapidly growing mass in the neck that can cause pressure symptoms. MATERIALS AND METHODS: Relevant papers in PubMed published through June 2017 were selected to track updated information about PTL with an emphasis on diagnosis and novel therapeutic management. RESULTS: The most frequent cases include non-Hodgkin lymphoma derived from B-cells, mainly diffuse large B-cell lymphoma (DLBCL) followed by mucosa-associated lymphoid tissue (MALT) lymphoma or a mixed type...
October 23, 2017: Journal of Investigative Surgery: the Official Journal of the Academy of Surgical Research
https://www.readbyqxmd.com/read/29054966/wnt5a-promotes-epithelial-to-mesenchymal-transition-and-metastasis-in-non-small-cell-lung-cancer
#18
Biao Wang, Zhen Tang, Huiyuan Gong, Li Zhu, Xuegang Liu
A recent study indicated that high Wnt5a expression is associated with poor prognosis in non-small-cell lung cancer (NSCLC) patients; however, the underlying mechanism was not clear yet. Immunohistochemistry and Western blotting were performed to examine the protein expression level in NSCLC tissues and cell lines. The role of Wnt5a in clone formation, invasiveness, migration, and epithelial-to-mesenchymal transition (EMT) of NSCLC cells was studied. Luciferase reporter assay was used to evaluate the Tcf/Lef transcriptional activity...
December 22, 2017: Bioscience Reports
https://www.readbyqxmd.com/read/28979270/functional-characterization-of-a-syntaxin-involved-in-tomato-solanum-lycopersicum-resistance-against-powdery-mildew
#19
Valentina Bracuto, Michela Appiano, Zheng Zheng, Anne-Marie A Wolters, Zhe Yan, Luigi Ricciardi, Richard G F Visser, Stefano Pavan, Yuling Bai
Specific syntaxins, such as Arabidopsis AtPEN1 and its barley ortholog ROR2, play a major role in plant defense against powdery mildews. Indeed, the impairment of these genes results in increased fungal penetration in both host and non-host interactions. In this study, a genome-wide survey allowed the identification of 21 tomato syntaxins. Two of them, named SlPEN1a and SlPEN1b, are closely related to AtPEN1. RNAi-based silencing of SlPEN1a in a tomato line carrying a loss-of-function mutation of the susceptibility gene SlMLO1 led to compromised resistance toward the tomato powdery mildew fungus Oidium neolycopersici...
2017: Frontiers in Plant Science
https://www.readbyqxmd.com/read/28978484/a-wnt-calcium-signaling-cascade-regulates-neuronal-excitability-and-trafficking-of-nmdars
#20
Andrea McQuate, Elena Latorre-Esteves, Andres Barria
Wnt signaling controls multiple biological process, particularly the embryonic development of metazoans. Sustained expression of Wnt signaling components in the mature mammalian CNS and their apparent deregulation in certain neuropathologies suggest that it also plays a part beyond embryonic development to regulate normal brain function. We describe a noncanonical Wnt/Ca(2+) signaling cascade that regulates the electrophysiological intrinsic properties of rat neurons, resulting in sustained membrane depolarization and the mobilization of Ca(2+) from internal stores...
October 3, 2017: Cell Reports
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