Literature DB >> 5816667

[Familial cases of a new systemic bone disease, hereditary gnatho-diaphyseal sclerosis].

Y Akasaka, T Nakajima, K Koyama, K Furuya, Y Mitsuka.   

Abstract

Entities:  

Mesh：

Year:  1969        PMID： 5816667

Source DB:  PubMed          Journal:  Nihon Seikeigeka Gakkai Zasshi        ISSN： 0021-5325


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  9 in total

Review 1.  Fibro-osseous lesions of the craniofacial skeleton: an update.

Authors:  Samir K El-Mofty
Journal:  Head Neck Pathol       Date:  2014-11-20

2.  Gnathodiaphyseal dysplasia: Severe atypical presentation with novel heterozygous mutation of the anoctamin gene (ANO5).

Authors:  Ghada A Otaify; Michael P Whyte; Gary S Gottesman; William H McAlister; J Eric Gordon; Abby Hollander; Marisa V Andrews; Samir K El-Mofty; Wei-Shen Chen; Deborah V Veis; Marina Stolina; Albert S Woo; Panagiotis Katsonis; Olivier Lichtarge; Fan Zhang; Marwan Shinawi
Journal:  Bone       Date:  2017-11-21       Impact factor: 4.398

3.  A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree.

Authors:  Caterina Marconi; Paolo Brunamonti Binello; Giovanni Badiali; Emanuela Caci; Roberto Cusano; Joseph Garibaldi; Tommaso Pippucci; Alberto Merlini; Claudio Marchetti; Kerry J Rhoden; Luis J V Galietta; Faustina Lalatta; Paolo Balbi; Marco Seri
Journal:  Eur J Hum Genet       Date:  2012-10-10       Impact factor: 4.246

4.  Gnathodiaphyseal dysplasia: report of a family with a novel mutation of the ANO5 gene.

Authors:  Hannah A Duong; Karen T Le; Albert L Soulema; Ronald H Yueh; Maren T Scheuner; Michael F Holick; Russell Christensen; Tracey L Tajima; Angela M Leung; Sanjay M Mallya
Journal:  Oral Surg Oral Med Oral Pathol Oral Radiol       Date:  2016-01-28

5.  The novel gene encoding a putative transmembrane protein is mutated in gnathodiaphyseal dysplasia (GDD).

Authors:  Satoshi Tsutsumi; Nobuyuki Kamata; Tamara J Vokes; Yutaka Maruoka; Koichi Nakakuki; Shoji Enomoto; Ken Omura; Teruo Amagasa; Masaru Nagayama; Fumiko Saito-Ohara; Johji Inazawa; Maki Moritani; Takashi Yamaoka; Hiroshi Inoue; Mitsuo Itakura
Journal:  Am J Hum Genet       Date:  2004-04-29       Impact factor: 11.025

6.  Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia.

Authors:  Lingling Jin; Yi Liu; Fanyue Sun; Michael T Collins; Keith Blackwell; Albert S Woo; Ernst J Reichenberger; Ying Hu
Journal:  Sci Rep       Date:  2017-02-08       Impact factor: 4.379

7.  Gain of function of TMEM16E/ANO5 scrambling activity caused by a mutation associated with gnathodiaphyseal dysplasia.

Authors:  Eleonora Di Zanni; Antonella Gradogna; Joachim Scholz-Starke; Anna Boccaccio
Journal:  Cell Mol Life Sci       Date:  2017-11-09       Impact factor: 9.261

8.  Gnathodiaphyseal dysplasia with a novel genetic variant in a large family from Iran.

Authors:  Vahid Reza Yassaee; Arash Khojasteh; Farzad Hashemi-Gorji; Hossein Sadeghi; Hannaneh Safiaghdam; Reza Mirfakhraie
Journal:  Mol Genet Genomic Med       Date:  2022-06-27       Impact factor: 2.473

9.  Whole exome sequencing links dental tumor to an autosomal-dominant mutation in ANO5 gene associated with gnathodiaphyseal dysplasia and muscle dystrophies.

Authors:  T V Andreeva; T V Tyazhelova; V N Rykalina; F E Gusev; A Yu Goltsov; O I Zolotareva; M P Aliseichik; T A Borodina; A P Grigorenko; D A Reshetov; E K Ginter; S S Amelina; R A Zinchenko; E I Rogaev
Journal:  Sci Rep       Date:  2016-05-24       Impact factor: 4.379
  9 in total

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