Hu A, Lu T, Chen D, Huang J, Feng W, Li Y, et al
. Vps4b heterozygous mice do not develop tooth defects that replicate human dentin dysplasia I. BMC Genet. 2019;20:7 pubmed publisher
..Consequently, further studies are needed to determine whether mice are an appropriate animal model for human tooth diseases. ..
Xiong F, Xiao L, Luo M, Huang F. Identification of HLA-A*02-B*46 haplotype allele variant in Guangdong Han populations on the basis of PCR-SBT. BMC Res Notes. 2009;2:55 pubmed publisher
Hu A, Li X, Chen D, Lu T, Huang J, Xu X, et al
. [Analysis of DSPP gene mutation in a Chinese pedigree affected with hereditary dentinogenesis imperfecta]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2018;35:511-514 pubmed publisher
..P17L) mutation of the DSPP gene probably underlies the disease in this pedigree. Above finding has expanded the spectrum of DSPP gene mutations and provided a basis for genetic counseling and prenatal diagnosis for this family. ..
Lu T, Li M, Xu X, Xiong J, Huang C, Zhang X, et al
. Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders. Int J Oral Sci. 2018;10:26 pubmed publisher
..This study demonstrates, for the first time, that an AMBN missense mutation causes non-syndromic human AI and dentin disorders. ..
Liu C, Tian Z, Yang Q, Ma Q, Xu X, Xiong F. [Screening of CTSC gene mutations in a Chinese pedigree affected with Papillon-Lefevre syndrome]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016;33:150-4 pubmed publisher
..G301S variant at the mRNA and protein levels compared with that of the wild type CTSC gene. The c.901G>A mutation of the CTSC gene was first reported in China, which has expanded its mutation spectrum. ..
Xu W, Chen Q, Liu C, Chen J, Xiong F, Wu B. A novel, complex RUNX2 gene mutation causes cleidocranial dysplasia. BMC Med Genet. 2017;18:13 pubmed publisher
..RUNX2 haploinsufficiency was associated with CCD pathogenesis. These results extend the known mutational spectrum of the RUNX2 gene and suggest a functional role of the novel mutation in CCD pathogenesis. ..
Miao Y, Xiong J, Zhang X, Huang H, Yu L, Chen J, et al
. Genetic diagnosis of polycystic kidney disease, Alport syndrome, and thalassemia minor in a large Chinese family. Clin Sci (Lond). 2017;131:2427-2438 pubmed publisher
..3903delC) and (_ _SEA) thalassemia deletion were found to be responsible for the clinical symptoms in this family. The reported pathogenic COL4a5 variant (c.2858G>T, rs78972735) was not pathogenic alone. ..