Novel mutations in the lipase H gene lead to secretion defects of LIPH in Chinese patients with autosomal recessive woolly hair/hypotrichosis (ARWH/HT).

Autosomal recessive woolly hair/hypotrichosis (ARWH/HT: OMIM #278150/604379) is a rare hereditary hair disease characterized by tightly curled hair at birth which can lead to sparse hair later in life. The mutations in both LIPH and LPAR6/P2RY5 are responsible for autosomal recessive woolly hair with or without hypotrichosis (ARWH/HT). To conduct clinical and genetic investigations in four patients from three unrelated Chinese Han families with ARWH/HT, we performed mutation screening of LIPH and LPAR6/P2RY5 gene and identified four mutations in LIPH: c.

A novel non-stop mutation in MSX1 causing autosomal dominant non-syndromic oligodontia.

Oligodontia, which is the congenital absence of six or more permanent teeth, excluding the third molars, may contribute to masticatory dysfunction, speech alteration, aesthetic problems and malocclusion. Msh homeobox 1 (MSX1) was the first gene identified as causing non-syndromic oligodontia. In this study, we identified a novel heterozygous non-stop mutation (c.

Mutation detection of type II hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix.

Background: Monilethrix is an autosomal dominant hair disorder characterized clinically by alopecia and follicular papules. In this study, we collected a Han monilethrix family to detect the mutations in patients and investigated the correlation between the genotype and phenotype of monilethrix.

Methods: In this study, we identified a Chinese family with monilethrix through light microscopic and scanning electron microscopic (SEM) examination.

Novel deletion mutation of TRPS1 gene in a Chinese patient of trichorhinophalangeal syndrome type I.

Tricho-rhino-phalangeal syndrome (TRPS) is a rare autosomal dominant disorder. Deletion or mutation of the TRPS1 gene leads to the tricho-rhino-phalangeal syndromes type I or type III. In this article, we describe a Chinese patient affected with type I TRPS and showing prominent pilar, rhinal and phalangeal abnormalities.

[Correlation study on polymorphisms of vitamin D receptor gene in patients with periodontitis].

Objective: To investigate the relationship between vitamin D receptor (VDR) gene polymorphisms and periodontitis.

Methods: Ninety patients with aggressive periodontitis(AgP), 34 patients with chronic periodontitis and 91 healthy controls were recruited in this study. VDR gene was analyzed by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) with Taq I restriction endonuclease.

Adenovirus-mediated PDCD5 gene transfer sensitizes K562 cells to apoptosis induced by idarubicin in vitro and in vivo.

PDCD5 (programmed cell death 5) accelerates apoptosis of certain tumor cells and is expressed at low levels in marrow-nucleated cells of AML and CML patients. In the present study, we evaluated the effects of PDCD5 overexpression on drug sensitivity of leukemia cells. K562 cells were treated with idarubicin (IDR) alone or in combination with adenoviral vectors expressing PDCD5 (Ad-PDCD5).

[Preparation and identification of monoclonal antibodies against human programmed cell death 10 (PDCD10)].

Objective: To obtain monoclonal antibodies against programmed cell death 10 (PDCD10) for further study of the structure and function of PDCD10 protein.

Methods: Balb/c mice were immunized with recombinant PDCD10, hybridoma cell lines secreting monoclonal antibodies against PDCD10 were screened by regular cell fusion and subcloning approach. The specificities of these monoclonal antibodies were determined by ELISA, Western blotting and Immunofluorescence assay.

Correlation between single nucleotide polymorphisms in a calprotectin subunit gene and risk of periodontitis in a Chinese population.

S100A8, the light subunit of calprotectin, has been known to be associated with periodontal inflammation. The present study looked to detect whether three polymorphisms in the upstream region of the S100A8 gene are correlated with periodontitis. Three hundred and twenty one subjects, including chronic periodontitis (CP) patients, aggressive periodontitis (AgP) patients and periodontally healthy controls, were recruited.

[PTCH gene mutations in odontogenic keratocysts].

Objective: To investigate the frequency, type and distribution of PTCH mutations in odontogenic keratocysts (OKC) and to analyze the molecular pathological relationship between sporadic OKC and OKC associated with nevoid basal cell carcinoma syndrome (NBCCS).

Methods: Genomic DNA was extracted from 8 cases of OKC lesions (4 sporadic OKCs and 4 NBCCS-related OKCs). PTCH gene mutations were detected by PCR-direct sequencing.

[Gene mutation detection in a cleidocranial dysplasia family].

Objective: To study gene mutation in Chinese patients with cleidocranial dysplasia.

Methods: A three generation family with the clinical diagnosis of cleidocranial dysplasia was investigated in present study. Genomic DNA was extracted from peripheral blood samples of each of the family members.

[Interleukin-1 polymorphisms in patients with aggressive periodontitis].

Purpose: To study whether interleukin-1 (IL-1) genotypes and/or alleles were associated with aggressive periodontitis (AgP).

Methods: Anti-coagulated peripheral blood samples were obtained from 122 AgP patients and 95 healthy controls. Genomic DNA was extracted from each sample.

[The relationship between a nucleotide substitution of S100A8 gene and aggressive periodontitis].

Objectives: To screen polymorphisms in the upstream region of S100A8 gene and to detect whether the polymorphisms were associated with aggressive periodontitis.

Methods: Thirty aggressive periodontitis patients and twenty-eight healthy controls were recruited for the study with informed consent. All subjects were of Chinese descent and systemically healthy.