Identification of a novel RUNX2 gene mutation in an Italian family with cleidocranial dysplasia.

Abstract:

:Cleidocranial dysplasia (CCD) is a rare, well-defined skeletal disorder with autosomal dominant inheritance and complete penetrance. Although it involves the whole skeletal system, the main clinical manifestations of CCD are malformations of the skull and clavicles, which lead to a typical appearance of the face and shoulders. Dental aspects are particularly evident and often eruption difficulties are the first indication for the patient, who does not present any other problem. It has been established that insufficiency of the RUNX-related transcription factor, the core-binding factor alpha 1 (CBFA1) protein, causes CCD. This protein is essential in skeletal development by regulating osteoblast differentiation and chondrocyte maturation. CBFA1 protein is encoded by the RUNX2 gene located on chromosome 6p21. The molecular characterization of the novel RUNX2 gene mutation c.580 + 1G > A in an Italian family (a 27-year-old female, her 54-year-old mother and 24-year-old sister) affected by the typical CCD phenotype, which was proven to alter splicing of the RUNX2 messenger RNA, underscoring the contribution of novel altered splicing mechanism to the aetiology of this disease is presented.

journal_name

Eur J Orthod

authors

Marchisella C,Rolando F,Muscarella LA,Zelante L,Bracco P,Piemontese MR

doi

10.1093/ejo/cjq107

subject

Has Abstract

pub_date

2011-10-01 00:00:00

pages

498-502

issue

5

eissn

0141-5387

issn

1460-2210

pii

cjq107

journal_volume

33

pub_type

杂志文章
  • Who knows more about the impact of malocclusion on children's quality of life, mothers or fathers?

    abstract::Shared decision making between children and parents is required in orthodontics. This study compared agreement among mothers, fathers, and children regarding the oral health-related quality of life (OHRQoL) of children. A sample of 71 child patients (41 girls and 30 boys) aged 12.6 years with an orthodontic treatment ...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/ejo/cjl058

    authors: Zhang M,McGrath C,Hägg U

    更新日期:2007-04-01 00:00:00

  • A clinical evaluation of the effectiveness of including fluoride into an orthodontic bonding adhesive.

    abstract::A clinical trial was undertaken to assess the value of incorporating fluoride released from a commercially available bonding adhesive (Rely-a-Bond) to determine the extent of any protection provided against enamel decalcification. Fifty patients undergoing fixed appliance therapy were included in the trial. Contralate...

    journal_title:European journal of orthodontics

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1093/ejo/19.4.391

    authors: Banks PA,Burn A,O'Brien K

    更新日期:1997-08-01 00:00:00

  • The effect of different combinations of tip and torque on archwire/bracket friction.

    abstract::The aim of this laboratory-based study was to investigate the effects of different combinations of tip and torque upon friction between an orthodontic bracket and archwire using a specially made jig. Victory Twin Series upper premolar brackets (3M Unitek) were mounted on a jig, which allowed tip and torque values in t...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/ejo/cjn017

    authors: Hamdan A,Rock P

    更新日期:2008-10-01 00:00:00

  • The use of 'Fluor Protector', a fluoride varnish, as a caries prevention method under orthodontic molar bands.

    abstract::The aim of this study was to determine whether Fluor Protector, a fluoride varnish, applied to molars before orthodontic banding could prevent white spot formation. In the in vitro study 93 human premolars were used, divided in five different groups, representing different clinical situations. Each tooth was sliced in...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/ejo/12.3.316

    authors: Adriaens ML,Dermaut LR,Verbeeck RM

    更新日期:1990-08-01 00:00:00

  • 3D dentofacial photogrammetry reference values: a novel approach to orthodontic diagnosis.

    abstract:Background:Orthodontic diagnostic standards generally use the cranial base as a reference and rely on samples selected by orthodontists. Objective:The purpose of this study was to provide male and female standards for a novel non-radiographic approach for orthodontic diagnosis that utilizes 3D dentofacial photogrammet...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/ejo/cjw055

    authors: Masoud MI,Bansal N,C Castillo J,Manosudprasit A,Allareddy V,Haghi A,Hawkins HC,Otárola-Castillo E

    更新日期:2017-04-01 00:00:00

  • Metal ion release from fixed orthodontic appliances--an in vivo study.

    abstract::The aim of this study was to test the hypothesis that there is no difference in salivary metal ion content between subjects with fixed orthodontic appliances and their same-gender sister or brother without any orthodontic appliance. This retrospective study was carried out on 28 subjects (16 females and 12 males) who ...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/ejo/cjq181

    authors: Amini F,Jafari A,Amini P,Sepasi S

    更新日期:2012-02-01 00:00:00

  • Longitudinal changes in microbiology and clinical periodontal parameters after removal of fixed orthodontic appliances.

    abstract::The aim of this longitudinal study was to monitor patients' microbiological and clinical parameters from bracket placement up to 3 months post-treatment. Twenty-four patients (10 males and 14 females, aged 14.6 ± 1.0 years) were included in this investigation. Microbiology (sub- and supragingival), periodontal probing...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/ejo/cjq032

    authors: van Gastel J,Quirynen M,Teughels W,Coucke W,Carels C

    更新日期:2011-02-01 00:00:00

  • Survey of congenitally missing teeth in orthodontic patients in Eastern Bavaria.

    abstract::This retrospective study examined the occurrence of congenitally missing permanent teeth and the need for dental treatment in the Regensburg University Medical Centre of Eastern Bavaria. Using a dental administration software tool, a total of 1442 patients who presented for orthodontic treatment between 1994 and 2006 ...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/ejo/cjq021

    authors: Behr M,Proff P,Leitzmann M,Pretzel M,Handel G,Schmalz G,Driemel O,Reichert TE,Koller M

    更新日期:2011-02-01 00:00:00

  • A 5-year clinical review of bond failure with a no-mix adhesive (Right on).

    abstract::The performance of 5941 stainless steel orthodontic brackets bonded with a no-mix adhesive (Right-on) in 563 patients was reviewed over a 5-year period. The effects of age and sex of the patient, treatment mechanics, operator experience, and arch location on the failure rate and mean survival time (MST) of bonded orth...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/ejo/16.3.203

    authors: Millett DT,Gordon PH

    更新日期:1994-06-01 00:00:00

  • The expression of extracellular matrix metalloproteinase inducer (EMMPRIN) in the compression area during orthodontic relapse.

    abstract:OBJECTIVE:This study investigated the expression of extracellular matrix metalloproteinase inducer (EMMPRIN) in the compression area during orthodontic relapse in rat molars. MATERIALS AND METHODS:Thirty Wistar rats (6 weeks old) underwent orthodontic tooth movement (OTM) of the left first maxillary molar for 21 days,...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/ejo/cjz046

    authors: Li H,Xia L,Wang S,Al-Balaa M,Liu W,Hua X

    更新日期:2020-06-23 00:00:00

  • Can temporomandibular dysfunction signs be predicted by early morphological or functional variables?

    abstract::The aim of the present study was to establish whether the early signs of various orofacial dysfunctions, malocclusions, or occlusal interferences can predict the development of temporomandibular dysfunction (TMD) in young adults. Forty-eight subjects referred for speech therapy and 49 controls participated in all four...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/ejo/26.4.367

    authors: Pahkala R,Qvarnström M

    更新日期:2004-08-01 00:00:00

  • White spot formation under orthodontic bands cemented with glass ionomer with or without Fluor Protector.

    abstract::The purpose of this study was to determine whether an additional application of Fluor Protector before band cementation with glass ionomer cement reduces white spot formation compared with band cementation with glass ionomer cement. In the in vitro study, 80 premolars were divided in half, creating a control and a tes...

    journal_title:European journal of orthodontics

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1093/ejo/20.3.219

    authors: van der Linden RP,Dermaut LR

    更新日期:1998-06-01 00:00:00

  • The development of an index of orthodontic treatment priority.

    abstract::The aim of this study was to develop a valid and reproducible index of orthodontic treatment priority. After reviewing the available literature, it was felt that this could be best achieved by using two separate components to record firstly the dental health and functional indications for treatment, and secondly the a...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/oxfordjournals.ejo.a035999

    authors: Brook PH,Shaw WC

    更新日期:1989-08-01 00:00:00

  • The cephalometric morphology of patients with obstructive sleep apnoea (OSA).

    abstract::This prospective study analysed the lateral cephalometric radiographs of 59 dentate, white, Caucasian males. Thirty-five patients with proven obstructive sleep apnoea (OSA) formed the experimental group, while 24 subjects with no history of respiratory disease acted as controls. Radiographs were traced and digitized, ...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/ejo/18.6.557

    authors: Battagel JM,L'Estrange PR

    更新日期:1996-12-01 00:00:00

  • Impact of orthodontic appliances on the quality of craniofacial anatomical magnetic resonance imaging and real-time speech imaging.

    abstract:AIMS:The aim of this work was to investigate the effects of commonly used orthodontic appliances on the magnetic resonance (MR) image quality of the craniofacial region, with special interest in the soft palate and velopharyngeal wall using real-time speech imaging sequences and anatomical imaging of the temporomandibu...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/ejo/cju103

    authors: Wylezinska M,Pinkstone M,Hay N,Scott AD,Birch MJ,Miquel ME

    更新日期:2015-12-01 00:00:00

  • The P561T polymorphism of the growth hormone receptor gene has an inhibitory effect on mandibular growth in young children.

    abstract::P561T heterozygous missense mutation in the growth hormone receptor (GHR) is a candidate genetic polymorphism (single-nucleotide polymorphism) for human mandibular growth. The purpose of this study was to assess whether this mutation affects mandibular growth during early childhood. The difference in mandibular growth...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/ejo/cjp017

    authors: Sasaki Y,Satoh K,Hayasaki H,Fukumoto S,Fujiwara T,Nonaka K

    更新日期:2009-10-01 00:00:00

  • A rationale for the selection of orthodontic wires.

    abstract::A logical basis for the sequence of wires chosen during orthodontic treatment with fixed appliances is presented. This utilizes a new more realistic model for the radial deflection of a segment of the archwire in which the wire is restrained by the ligatures on the misaligned tooth, contacts the inner edges of the bra...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/ejo/14.3.240

    authors: Waters NE

    更新日期:1992-06-01 00:00:00

  • Indirect bonding--a new transfer method.

    abstract::The aim of this in vitro study was to investigate both shear bond strength (SBS) by shear testing of indirectly bonded brackets, and the accuracy of a new transfer method, the Aptus bonding device (ABD). For comparison, the SBS of directly bonded brackets in two experimental arrangements was also measured. The precisi...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/ejo/cjm094

    authors: Wendl B,Droschl H,Muchitsch P

    更新日期:2008-02-01 00:00:00

  • Maxillary expansion in the mixed dentition: rapid or semi-rapid?

    abstract::The purpose of this study was to investigate the effects of rapid maxillary expansion (RME) and semi-rapid maxillary expansion (SRME) in the mixed dentition period. The SRME group consisted of 18 patients (11 girls and 7 boys) with a mean age of 8.63 +/- 1.09 years and the RME group 17 patients (11 girls and 6 boys) w...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章,随机对照试验

    doi:10.1093/ejo/cjp057

    authors: Ramoglu SI,Sari Z

    更新日期:2010-02-01 00:00:00

  • Dentoalveolar development in subjects with normal occlusion. A longitudinal study between the ages of 5 and 31 years.

    abstract::The aim of the present study was to examine dentoalveolar development in subjects with an 'ideal' (normal) occlusion. The material comprised 436 study casts of 189 male and 247 female subjects of Swedish origin between the ages of 5 and 31 years with no history of orthodontic treatment. Tooth width, and arch length, w...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/ejo/cjn124

    authors: Thilander B

    更新日期:2009-04-01 00:00:00

  • Effect of different masticatory functional demands on the 3D mandibular condyle morphology of growing rats using posterior bite-blocks.

    abstract:Background and objectives:Apart from the primary effect of bite-blocks on tooth position, they may also influence the mandibular condylar growth. Our aim was to investigate their influence on the condylar morphology, with variable masticatory forces. Material and methods:Fifty-two 4-week old male rats were divided int...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/ejo/cjx072

    authors: Denes BJ,Lazzarotto B,Bresin A,Kiliaridis S

    更新日期:2018-05-25 00:00:00

  • Effects of age, gender, and body size on nasal cross-sectional area in children.

    abstract::The long-term goal of this research is to define the dimensions of nasal airway adequacy in children. Nasal airway size and variables associated with growth were assessed in 138 healthy children aged 7-15 years. The pressure-flow technique (Warren, 1984) was used to calculate the smallest cross-sectional area of the n...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/ejo/13.4.311

    authors: Laine T,Warren DW

    更新日期:1991-08-01 00:00:00

  • Oral appliances for the management of severe snoring: a randomized controlled trial.

    abstract::The aim of this randomized controlled trial was to assess the effectiveness of a mandibular advancement appliance (MAA) in managing severe snoring. Twenty-eight adults with severe snoring and normal overnight oximetry were recruited from sleep disorder clinics. A maxillary placebo appliance and a MAA were worn by each...

    journal_title:European journal of orthodontics

    pub_type: 临床试验,杂志文章,随机对照试验

    doi:10.1093/ejo/23.2.127

    authors: Johnston CD,Gleadhill IC,Cinnamond MJ,Peden WM

    更新日期:2001-04-01 00:00:00

  • League tables for orthodontists.

    abstract::The aim of this study was to explore the complexities in constructing league tables purporting to measure orthodontic clinical outcomes. Eighteen orthodontists were invited to participate in a cost-effectiveness study. Each orthodontist was asked to provide information on 100 consecutively treated patients. The Index ...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/ejo/cjn036

    authors: Dunstan F,Richmond S,Phillips C,Durning P

    更新日期:2008-12-01 00:00:00

  • Comparison of the efficacy of tooth alignment among lingual and labial brackets: an in vitro study.

    abstract:Background/objective:The aim of this study was to evaluate the efficacy of tooth alignment with conventional and self-ligating labial and lingual orthodontic bracket systems. Materials/methods:We tested labial brackets (0.022″ slot size) and lingual brackets (0.018″ slot size). The labial brackets were: (i) regular tw...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/ejo/cjy005

    authors: Alobeid A,El-Bialy T,Reimann S,Keilig L,Cornelius D,Jäger A,Bourauel C

    更新日期:2018-11-30 00:00:00

  • Initial changes of centres of rotation of the anterior segment in response to horizontal forces.

    abstract::This study investigated the changes in the initial centres of rotation (Crot) of the upper six anterior teeth in response to a horizontal load. Six upper anterior teeth were extracted, splinted as a unit, and embedded in dental stone after the roots were uniformly coated with silicone. An aluminium fixture was bonded ...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/ejo/cjl023

    authors: Choy K,Kim KH,Burstone CJ

    更新日期:2006-10-01 00:00:00

  • Class II subdivision treatment with tip-back moments.

    abstract::Unilateral tip-back mechanics are challenging because of a number of undesirable side-effects associated with their use during orthodontic treatment. The purpose of this paper is to review the differential diagnosis and treatment planning of Class II subdivision malocclusions and present a treatment strategy based on ...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/ejo/19.1.93

    authors: Shroff B,Lindauer SJ,Burstone CJ

    更新日期:1997-02-01 00:00:00

  • The aetiological factors in Class III malocclusion.

    abstract::This retrospective, cephalometric study was undertaken in an attempt to identify the aetiological features which may be associated with a Class III malocclusion in the growing child. Four-hundred-and-ninety-five lateral cephalometric radiographs (210 control and 285 Class III films) formed the basis of the study. All ...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/ejo/15.5.347

    authors: Battagel JM

    更新日期:1993-10-01 00:00:00

  • The repair of orthodontic root resorption: an ultrastructural study.

    abstract::It has previously been shown by light (LM) and scanning electron microscopy (SEM), that after force is terminated, repair of the orthodontic root resorption lacunae occur by deposition of new cementum. The ultrastructural details of the process are not well established. Since it has been hypothesized that a new barrie...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/ejo/17.3.189

    authors: Brudvik P,Rygh P

    更新日期:1995-06-01 00:00:00

  • The effects of sandblasting on the bond strength of molar attachments--an in vitro study.

    abstract::This study evaluated the effect of sandblasting foil mesh molar tube bases on the shear bond strength obtained when bonding to first molar teeth. Fifty-two recently extracted first molar teeth were etched with 35 per cent phosphoric acid gel for 30 seconds. Twenty-six sandblasted 'A' Company molar tube attachments and...

    journal_title:European journal of orthodontics

    pub_type: 杂志文章

    doi:10.1093/ejo/21.3.311

    authors: Johnston CD,McSherry PF

    更新日期:1999-06-01 00:00:00