Literature DB >> 10364528

The gene for cherubism maps to chromosome 4p16.

V Tiziani1, E Reichenberger, C L Buzzo, S Niazi, N Fukai, M Stiller, H Peters, F M Salzano, C M Raposo do Amaral, B R Olsen.   

Abstract

Cherubism is an autosomal dominant disorder that may be related to tooth development and eruption. It is a disorder of age-related bone remodeling, mostly limited to the maxilla and the mandible, with loss of bone in the jaws and its replacement with large amounts of fibrous tissue. We have used a genomewide search with a three-generation family and have established linkage to chromosome 4p16. Three other families affected with cherubism were also genotyped and were mapped to the same locus. The combined LOD score is 4.21 at a recombination fraction of 0, and the locus spans an interval of approximately 22 cM.

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Year:  1999        PMID： 10364528      PMCID： PMC1378086          DOI： 10.1086/302456

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


  31 in total

1.  Cherubism: report of a case showing regression without treatment.

Authors:  J O Katz; C L Dunlap; R L Ennis
Journal:  J Oral Maxillofac Surg       Date:  1992-03       Impact factor: 1.895

2.  Retinal changes and tumorigenesis in Ramon syndrome: follow-up of a Brazilian family.

Authors:  J M de Pina-Neto; N V de Souza; M A Velludo; G B Perosa; M M de Freitas; J F Colafêmina
Journal:  Am J Med Genet       Date:  1998-04-28

3.  Osteoprotegerin: a novel secreted protein involved in the regulation of bone density.

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Journal:  Cell       Date:  1997-04-18       Impact factor: 41.582

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Journal:  Oral Surg Oral Med Oral Pathol       Date:  1989-06

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Journal:  Nature       Date:  1996-03-14       Impact factor: 49.962

6.  Gene for autosomal dominant congenital stationary night blindness maps to the same region as the gene for the beta-subunit of the rod photoreceptor cGMP phosphodiesterase (PDEB) in chromosome 4p16.3.

Authors:  A Gal; S Xu; Y Piczenik; H Eiberg; C Duvigneau; E Schwinger; T Rosenberg
Journal:  Hum Mol Genet       Date:  1994-02       Impact factor: 6.150

7.  A common FGFR3 gene mutation is present in achondroplasia but not in hypochondroplasia.

Authors:  I Stoilov; M W Kilpatrick; P Tsipouras
Journal:  Am J Med Genet       Date:  1995-01-02

8.  Recessive mutations in the gene encoding the beta-subunit of rod phosphodiesterase in patients with retinitis pigmentosa.

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Journal:  Nat Genet       Date:  1993-06       Impact factor: 38.330

9.  A homologue of the TNF receptor and its ligand enhance T-cell growth and dendritic-cell function.

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Journal:  Nature       Date:  1997-11-13       Impact factor: 49.962

10.  TRANCE (tumor necrosis factor [TNF]-related activation-induced cytokine), a new TNF family member predominantly expressed in T cells, is a dendritic cell-specific survival factor.

Authors:  B R Wong; R Josien; S Y Lee; B Sauter; H L Li; R M Steinman; Y Choi
Journal:  J Exp Med       Date:  1997-12-15       Impact factor: 14.307
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  27 in total

1.  [Clinical and molecular genetic observations on families with cherubism over three generations].

Authors:  M Petschler; M Stiller; B Hoffmeister; R Witkowski; C Opitz; J S Bill; H Peters
Journal:  Mund Kiefer Gesichtschir       Date:  2003-01-11

2.  Radiographic, CT and MRI features of cherubism.

Authors:  Vaibhav Jain; Raju Sharma
Journal:  Pediatr Radiol       Date:  2006-07-18

3.  Autosomal dominant craniometaphyseal dysplasia is caused by mutations in the transmembrane protein ANK.

Authors:  E Reichenberger; V Tiziani; S Watanabe; L Park; Y Ueki; C Santanna; S T Baur; R Shiang; D K Grange; P Beighton; J Gardner; H Hamersma; S Sellars; R Ramesar; A C Lidral; A Sommer; C M Raposo do Amaral; R J Gorlin; J B Mulliken; B R Olsen
Journal:  Am J Hum Genet       Date:  2001-04-16       Impact factor: 11.025

4.  Genetic study of an Indian family with cherubism.

Authors:  Ankur Singh; Khushbu Singh; Ruchi Goel; Ying Hu; Ernst Reichenberger; Seema Kapoor
Journal:  Indian J Pediatr       Date:  2013-09-05       Impact factor: 1.967

5.  Investigating global gene expression changes in a murine model of cherubism.

Authors:  Tulika Sharma; Justin Cotney; Vijender Singh; Archana Sanjay; Ernst J Reichenberger; Yasuyoshi Ueki; Peter Maye
Journal:  Bone       Date:  2020-03-10       Impact factor: 4.398

6.  Cherubism associated with neurofibromatosis type 1, and multiple osteolytic lesions of both femurs: a previously undescribed association of findings.

Authors:  Francisco J Martínez-Tello; Palmira Manjón-Luengo; Manuel Martin-Pérez; Santiago Montes-Moreno
Journal:  Skeletal Radiol       Date:  2005-08-11       Impact factor: 2.199

Review 7.  Benign fibro-osseous lesions of the craniofacial complex. A review.

Authors:  Roy Eversole; Lan Su; Samir ElMofty
Journal:  Head Neck Pathol       Date:  2008-05-13

8.  Loss of Tankyrase-mediated destruction of 3BP2 is the underlying pathogenic mechanism of cherubism.

Authors:  Noam Levaot; Oleksandr Voytyuk; Ioannis Dimitriou; Fabrice Sircoulomb; Arun Chandrakumar; Marcel Deckert; Paul M Krzyzanowski; Andrew Scotter; Shengqing Gu; Salima Janmohamed; Feng Cong; Paul D Simoncic; Yasuyoshi Ueki; Jose La Rose; Robert Rottapel
Journal:  Cell       Date:  2011-12-09       Impact factor: 41.582

9.  Neurofibromatosis Type 1 With Cherubism-like Phenotype, Multiple Osteolytic Bone Lesions of Lower Extremities, and Alagille-syndrome: Case Report With Literature Survey.

Authors:  Reinhard E Friedrich; Jozef Zustin; Andreas M Luebke; Thorsten Rosenbaum; Martin Gosau; Christian Hagel; Felix K Kohlrusch; Ilse Wieland; Martin Zenker
Journal:  In Vivo       Date:  2021 May-Jun       Impact factor: 2.155

10.  NFATc1 in mice represses osteoprotegerin during osteoclastogenesis and dissociates systemic osteopenia from inflammation in cherubism.

Authors:  Antonios O Aliprantis; Yasuyoshi Ueki; Rosalyn Sulyanto; Arnold Park; Kirsten S Sigrist; Sudarshana M Sharma; Michael C Ostrowski; Bjorn R Olsen; Laurie H Glimcher
Journal:  J Clin Invest       Date:  2008-10-09       Impact factor: 14.808
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