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Cleidocranial Dysplasia

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https://www.readbyqxmd.com/read/28581440/ubiquitin-ligase-rnf146-coordinates-bone-dynamics-and-energy-metabolism
#1
Yoshinori Matsumoto, Jose La Rose, Melissa Lim, Hibret A Adissu, Napoleon Law, Xiaohong Mao, Feng Cong, Paula Mera, Gerard Karsenty, David Goltzman, Adele Changoor, Lucia Zhang, Megan Stajkowski, Marc D Grynpas, Carsten Bergmann, Robert Rottapel
Cleidocranial dysplasia (CCD) is an autosomal dominant human disorder characterized by abnormal bone development that is mainly due to defective intramembranous bone formation by osteoblasts. Here, we describe a mouse strain lacking the E3 ubiquitin ligase RNF146 that shows phenotypic similarities to CCD. Loss of RNF146 stabilized its substrate AXIN1, leading to impairment of WNT3a-induced β-catenin activation and reduced Fgf18 expression in osteoblasts. We show that FGF18 induces transcriptional coactivator with PDZ-binding motif (TAZ) expression, which is required for osteoblast proliferation and differentiation through transcriptional enhancer associate domain (TEAD) and runt-related transcription factor 2 (RUNX2) transcription factors, respectively...
June 5, 2017: Journal of Clinical Investigation
https://www.readbyqxmd.com/read/28578077/oral-rehabilitation-with-implant-supported-fixed-dental-prostheses-of-a-patient-with-cleidocranial-dysplasia
#2
Fethi Atil, Ahmet Culhaoglu, Ismail Doruk Kocyigit, Zahit Adisen, Melda Misirlioglu, Burak Yilmaz
This clinical report describes the oral rehabilitation with implant-supported fixed dental prostheses in the maxilla and mandible of a patient with cleidocranial dysplasia. Cone-beam computed tomography and a tilted implant protocol in the mandible helped to establish a conservative approach for bone preservation, prevent surgical complications, enable proper implant positioning to avoid anatomic structures, and support the fixed dental prostheses.
May 31, 2017: Journal of Prosthetic Dentistry
https://www.readbyqxmd.com/read/28505335/functional-analysis-of-novel-runx2-mutations-in-cleidocranial-dysplasia
#3
Li Zeng, Jiahui Wei, Dong Han, Haochen Liu, Yang Liu, Na Zhao, Shichen Sun, Yixiang Wang, Hailan Feng
Cleidocranial dysplasia (CCD) is a rare autosomal dominant skeletal disorder caused by mutation of runt-related transcription factor 2 (RUNX2) gene. The purpose of this study was to explore novel RUNX2 mutations in seven individuals with CCD and investigate the function of the mutant RUNX2 proteins. DNA samples were prepared from the peripheral blood of the CCD individuals, and then subjected to DNA sequencing. Conservation and secondary structure analysis were performed based on RUNX2 sequencing results. pEGFP-C1 plasmids containing GFP-tagged wild-type RUNX2 and three novel RUNX2 mutations expression cassettes were constructed, and then transfected into HEK293T cells...
May 13, 2017: Mutagenesis
https://www.readbyqxmd.com/read/28413596/non-syndromic-multiple-supernumerary-premolars-clinicoradiographic-report-of-five-cases
#4
Renu Tanwar, Vipul Jaitly, Aadya Sharma, Rashmi Heralgi, Munish Ghangas, Ankur Bhagat
Hyperdontia or supernumerary teeth in both arches without any syndromic manifestation are extremely rare. Supernumerary teeth are commonly associated with Gardner's syndrome, cleft lip and palate, cleidocranial dysplasia and trichorhinopha-langeal syndrome. Five cases of non-syndromic multiple premolars of maxillary and mandibular arches in Indian patients are presented here. This case series reports three cases with multiple (9 in maximum), bilaterally impacted and erupted supernumerary teeth and two cases with supernumerary premolars in non-syndromic cases from Indian patients...
2017: Journal of Dental Research, Dental Clinics, Dental Prospects
https://www.readbyqxmd.com/read/28188365/quantitative-anatomy-of-the-growing-clavicle-in-the-human-fetus-ct-digital-image-analysis-and-statistical-study
#5
Marcin Wiśniewski, Mariusz Baumgart, Magdalena Grzonkowska, Bogdan Małkowski, Piotr Flisiński, Małgorzata Dombek, Michał Szpinda
PURPOSES: Knowledge of dimensions of fetal long bones is useful in both the assessment of fetal growth and early detection of inherited defects. Measurements of the fetal clavicle may facilitate detection of numerous defects, e.g., cleidocranial dysplasia, Holt-Oram syndrome, Goltz syndrome, and Melnick-Needles syndrome. METHODS: Using the methods of CT, digital image analysis, and statistics, the size of the growing clavicle in 42 spontaneously aborted human fetuses (21 males and 21 females) at ages of 18-30 weeks was studied...
February 10, 2017: Surgical and Radiologic Anatomy: SRA
https://www.readbyqxmd.com/read/28173761/a-novel-complex-runx2-gene-mutation-causes-cleidocranial-dysplasia
#6
Wen'an Xu, Qiuyue Chen, Cuixian Liu, Jiajing Chen, Fu Xiong, Buling Wu
BACKGROUND: Haploinsufficiency of the runt-related transcription factor 2 (RUNX2) gene is known to cause cleidocranial dysplasia (CCD). Here, we investigated a complex, heterozygous RUNX2 gene mutation in a Chinese family with CCD and the pathogenesis associated with the variations. METHODS: Genomic DNA extracted from peripheral venous blood was taken from the proband, her parents and 3 siblings, and 150 normal controls. Analysis of their respective RUNX2 gene sequences was performed by PCR amplification and Sanger sequencing...
February 7, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28091408/novel-mutation-of-cleidocranial-dysplasia-related-frameshift-runt-related-transcription-factor-2-in-a-sporadic-chinese-case
#7
Xue-Yan Qin, Pei-Zeng Jia, Hua-Xiang Zhao, Wei-Ran Li, Feng Chen, Jiu-Xiang Lin
BACKGROUND: Cleidocranial dysplasia (CCD) is an autosomal dominant disease that affects the skeletal system. Common symptoms of CCD include hypoplasia or aplasia of the clavicles, delayed or even absent closure of the fontanels, midface hypoplasia, short stature, and delayed eruption of permanent and supernumerary teeth. Previous studies reported a connection between CCD and the haploinsufficiency of runt-related transcription factor 2 (RUNX2). Here, we report a sporadic Chinese case presenting typical symptoms of CCD...
January 20, 2017: Chinese Medical Journal
https://www.readbyqxmd.com/read/28056872/a-limb-girdle-myopathy-phenotype-of-runx2-mutation-in-a-patient-with-cleidocranial-dysplasia-a-case-study-and-literature-review
#8
REVIEW
Sung-Ju Hsueh, Ni-Chung Lee, Shu-Hua Yang, Han-I Lin, Chin-Hsien Lin
BACKGROUND: Cleidocranial dysplasia (CCD) is a rare hereditary disorder that arises from heterozygous loss of function mutations in the runt-related transcription factor 2 (RUNX2) gene. As RUNX2 is mainly expressed in osteoblasts, CCD typically affects the skeletal and dental systems. Few studies have investigated RUNX2 mutation effects on non-skeletal systems. Here, we describe limb-girdle myopathy, an uncommon phenotype of CCD, in a patient with a heterozygous missense mutation (p.R225Q) in the RUNX2 gene...
January 6, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28052439/an-hdac-inhibitor-entinostat-ms-275-partially-prevents-delayed-cranial-suture-closure-in-heterozygous-runx2-null-mice
#9
Han-Sol Bae, Won-Joon Yoon, Young-Dan Cho, Rabia Islam, Hye-Rim Shin, Bong-Soo Kim, Jin-Muk Lim, Min-Seok Seo, Seo-Ae Cho, Kang-Young Choi, Seung-Hak Baek, Hong-Gee Kim, Kyung-Mi Woo, Jeong-Hwa Baek, Yun-Sil Lee, Hyun-Mo Ryoo
Cleidocranial dysplasia (CCD) is an autosomal dominant skeletal disorder caused by mutations in RUNX2, coding a key transcription factor of early osteogenesis. CCD patients suffer from developmental defects in cranial bones. Despite numerous investigations and clinical approaches, no therapeutic strategy has been suggested to prevent CCD. Here, we show that fetal administration of Entinostat/MS-275, a class I histone deacetylase (HDAC)-specific inhibitor, partially prevents delayed closure of cranial sutures in Runx2(+/-) mice strain of C57BL/6J by two mechanisms: 1) posttranslational acetylation of Runx2 protein, which stabilized the protein and activated its transcriptional activity; and 2) epigenetic regulation of Runx2 and other bone marker genes...
May 2017: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/28027977/cleidocranial-dysplasia-clinical-endocrinologic-and-molecular-findings-in-15-patients-from-11-families
#10
Firdevs Dinçsoy Bir, Nuriye Dinçkan, Yeliz Güven, Firdevs Baş, Umut Altunoğlu, Senem S Kuvvetli, Şükran Poyrazoğlu, Güven Toksoy, Hülya Kayserili, Z Oya Uyguner
Cleidocranial dysplasia (CCD) is an autosomal dominant disorder characterized by skeletal anomalies such as delayed closure of the cranial sutures, underdeveloped or absent clavicles, multiple dental abnormalities, short stature and osteoporosis. RUNX2, encoding Runt DNA-binding domain protein important in osteoblast differentiation, is the only known gene related to the disease and identified as responsible in 70% of the cases. Our clinical evaluations revealed that short stature present at a rate of 28.6%, osteoporosis at a rate of 57...
March 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/27706911/making-extra-teeth-lessons-from-a-trps1-mutation
#11
Worawan Kunotai, Panjit Ananpornruedee, Mark Lubinsky, Apitchaya Pruksametanan, Piranit Nik Kantaputra
A Thai mother and her two daughters were affected with tricho-rhino-phalangeal syndrome type I. The daughters had 15 and 18 supernumerary teeth, respectively. The mother had normal dentition. Mutation analysis of TRPS1 showed a novel heterozygous c.3809_3811delACTinsCATGTTGTG mutation in all. This mutation is predicted to cause amino acid changes in the Ikaros-like zinc finger domain near the C-terminal end of TRPS1, which is important for repressive protein function. The results of our study and the comprehensive review of the literature show that pathways of forming supernumerary teeth appear to involve APC and RUNX2, the genes responsible for familial adenomatous polyposis syndrome and cleidocranial dysplasia, respectively...
January 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27509906/runx2-mutation-impairs-bone-remodelling-of-dental-follicle-cells-and-periodontal-ligament-cells-in-patients-with-cleidocranial-dysplasia
#12
Xiangyu Sun, Xiaozhe Wang, Chenying Zhang, Yang Liu, Xiang Yang, Wenjuan Yan, Zhongning Liu, Yixiang Wang, Shuguo Zheng
RUNX2 is an important osteo-specific factor with crucial functions in bone formation and remodelling as well as resorption of teeth. Heterozygous mutation of RUNX2 can cause cleidocranial dysplasia (CCD), a systemic disease with extensive skeletal dysplasia and abnormality of tooth growth. In our study, dental follicle cells (DFCs) and periodontal ligament cells (PDLCs) were isolated, cultured and identified from one patient with CCD and compared with normal controls. This CCD patient was confirmed to have a heterozygous frameshift mutation of RUNX2 (c...
November 2016: Mutagenesis
https://www.readbyqxmd.com/read/27500518/cleidocranial-dysplasia-with-6p21-1-p12-3-microdeletion-a-case-report-and-literature-review
#13
Surasak Puvabanditsin, Melissa February, Julia Mayne, Jennifer McConnell, Rajeev Mehta
OBJECTIVE:   The aim of this article is to publish a literature review and report on a new case of cleidocranial dysplasia syndrome with 6p21.1-p12.3 microdeletion. DESIGN:   A PubMed search using "cleidocranial dysplasia syndrome (CCD)" or "6p microdeletion" was performed. Articles with information relevant to our case were obtained for review. A new case of cleidocranial dysplasia syndrome is presented to describe and discuss clinical manifestations, pathogenesis, clinical progression of cleidocranial dysplasia syndrome, and management...
August 8, 2016: Cleft Palate-craniofacial Journal
https://www.readbyqxmd.com/read/27460680/low-dose-computed-tomography-to-diagnose-fetal-bone-dysplasias
#14
A Montoya Filardi, M Guasp Vizcaíno, J Gómez Fernández-Montes, R Llorens Salvador
We present a case of cleidocranial dysplasia diagnosed by low-dose fetal computed tomography (CT) in the 25th week of gestation. Severe bone dysplasia was suspected because of the fetus' low percentile in long bones length and the appearance of craniosynostosis on sonography. CT found no abnormalities incompatible with life. The effective dose was 5 mSv, within the recommended range for this type of examination. Low-dose fetal CT is a new technique that makes precision study of the bony structures possible from the second trimester of pregnancy...
November 2016: Radiología
https://www.readbyqxmd.com/read/27446262/orthodontic-treatment-of-a-patient-with-cleidocranial-dysplasia-a-case-report
#15
Zi-Jian Li, Jun-Yan Wang, Ming-Fei Gao, Da-Lei Wu, Xin Chang
Cleidocranial dysplasia (CCD) is a rare autosomal dominant condition that affects ossification. The dental abnormalities associated with CCD present an obstacle to orthodontic treatment planning. Early diagnosis is crucial to provide the patient with different treatment modalities that will suit the particular patient. In the present case, combined surgical and orthodontic treatment were performed to guide multiple impacted teeth. A single nucleotide missense variation was identified in exon 3 of runt-related transcription factor 2 (RUNX2) in this patient...
August 2016: Experimental and Therapeutic Medicine
https://www.readbyqxmd.com/read/27272193/cleidocranial-dysplasia-and-runx2-clinical-phenotype-genotype-correlation
#16
Anna Jaruga, Ewa Hordyjewska, Grzegorz Kandzierski, Przemko Tylzanowski
Runt-related transcription factor 2 (RUNX2/Cbfa1) is the main regulatory gene controlling skeletal development and morphogenesis in vertebrates. It is located on chromosome 6p21 and has two functional isoforms (type I and type II) under control of two alternate promoters (P1 and P2). Mutations within RUNX2 are linked to Cleidocranial dysplasia syndrome (CCD) in humans. CCD is an autosomal skeletal disorder characterized by several features such as delayed closure of fontanels, dental abnormalities and hypoplastic clavicles...
June 6, 2016: Clinical Genetics
https://www.readbyqxmd.com/read/27250821/syndromes-with-supernumerary-teeth
#17
Mark Lubinsky, Piranit Nik Kantaputra
While most supernumerary teeth are idiopathic, they can be associated with a number of Mendelian syndromes. However, this can also be a coincidental finding, since supernumerary teeth occur in 6% or more of the normal population. To better define this relationship, we analyzed the evidence for specific associations. We excluded conditions with a single affected patient reported, supernumerary teeth adjacent to clefts or other forms of alveolar disruption (as secondary rather than primary findings), and natal teeth, which can involve premature eruption of a normal tooth...
October 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27195196/cleidocranial-dysplasia-a-report-of-two-cases-with-brief-review
#18
Kusum Bharti, Mridula Goswami
Cleidocranial dysplasia (CCD) is a genetic disorder primarily causing dysplasia of bones and teeth with autosomal dominant inheritance pattern. Affected individuals presented with several skeletal and dental abnormalities mainly hypoplasia of clavicles, open fontanelles, short stature, retention of primary teeth, supernumerary teeth, delayed eruption of permanent teeth, multiple impacted permanent teeth etc. The present series of two cases illustrates the clinical and radiological features of pediatric patients with cleidocranial dysplasia...
May 2016: Intractable & Rare Diseases Research
https://www.readbyqxmd.com/read/27177937/classical-cleidocranial-dysplasia-in-an-adult-due-to-a-novel-frameshift-pathogenic-variant-in-runx2
#19
Malavika Hebbar, Katta M Girisha, Anju Shukla
Cleidocranial dysplasia (CCD) is a rare genetic disorder of bone, characterised by hypoplastic/aplastic clavicles, delayed closure of fontanelles and sutures of the cranium and dental abnormalities. We describe a novel frameshift pathogenic variation-c.470dupT (p.M157Ifs*4, NM_001024630) in the runt-related transcription factor 2 (RUNX2) gene-that adds to the spectrum of mutations in this gene. The current case also illustrates the clinical and radiological findings in an adult with CCD.
May 13, 2016: BMJ Case Reports
https://www.readbyqxmd.com/read/27149837/runx2-mediates-plasmacytoid-dendritic-cell-egress-from-the-bone-marrow-and-controls-viral-immunity
#20
Michaël Chopin, Simon P Preston, Aaron T L Lun, Julie Tellier, Gordon K Smyth, Marc Pellegrini, Gabrielle T Belz, Lynn M Corcoran, Jane E Visvader, Li Wu, Stephen L Nutt
Plasmacytoid dendritic cells (pDCs) represent a unique immune cell type that responds to viral nucleic acids through the rapid production of type I interferons. Within the hematopoietic system, the transcription factor RUNX2 is exclusively expressed in pDCs and is required for their peripheral homeostasis. Here, we show that RUNX2 plays an essential role in promoting pDC localization and function. RUNX2 is required for the appropriate expression of the integrin-mediated adhesion machinery, as well as for the down-modulation of the chemokine receptor CXCR4, which allows pDC egress into the circulation...
April 13, 2016: Cell Reports
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