Search results for "abnormalities"
showing 10 items of 638 documents
Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes
2015
Contains fulltext : 153827.pdf (Publisher’s version ) (Open Access) Ablepharon macrostomia syndrome (AMS) and Barber-Say syndrome (BSS) are rare congenital ectodermal dysplasias characterized by similar clinical features. To establish the genetic basis of AMS and BSS, we performed extensive clinical phenotyping, whole exome and candidate gene sequencing, and functional validations. We identified a recurrent de novo mutation in TWIST2 in seven independent AMS-affected families, as well as another recurrent de novo mutation affecting the same amino acid in ten independent BSS-affected families. Moreover, a genotype-phenotype correlation was observed, because the two syndromes differed based s…
Investigation of tooth transposition in a non-syndromic Turkish anatolian population : characteristic features and associated dental anomalies
2009
Objective: The aims of this study were to investigate the frequency and characteristics of dental transpositions and to evaluate associated dental anomalies in a large sample of Turkish Anatolian population. Study design: A retrospective study was performed using panoramic radiographs of 6983 patients (4092 females and 2891 males) ranging in age from 12 to 27 subjected to Faculty of Dentistry at the University of Ataturk (Erzurum, Turkey) between 2005 and 2008. For each patient with tooth transposition we recorded the demographic variables (including age, sex), history of trauma, type, classification, and location of tooth transpositions, and associated dental anomalies. The Pearson chi-squ…
Spinocerebellar ataxia: functional analysis of the stomatognathic system
2019
Background Neurodegenerative diseases that affect the cerebellum, especially in elderly individuals, cause impairment of motor coordination and quality of life. The presente study evaluated the electromyographic activity and thickness of the right and left masseter and temporal muscles, and the maximum molar bite force of individuals with spinocerebellar ataxia. Material and Methods Twenty-eight individuals were divided into two groups: those with (n=14) and without (n=14) spinocerebellar ataxia. Data on the masticatory muscles obtained from the electromyographic activity (resting, right and left laterality and protrusion), muscle thickness (maximal voluntary contraction and tensile strengt…
The prevalence of root dilacerations in a Turkish population
2009
Objectives: The aim of this study was to determine the prevalence of root dilaceration in a Turkish dental patient population with respect to sexes and dental localization in relation between sex and this anomaly. Study Design: A retrospective study was performed using periapical radiography of 2,124 patients ranging in age from 15 to 65. All data (age, sex and systemic disease or syndrome) was obtained from the files. These patients were analyzed for root dilaceration. Descriptive characteristics of sexes, jaws, and dental localization were recorded. The Pearson chi-squared test was used. Results: Of 2,251 patients, 214 (9.5%) had root dilaceration. Root dilacerations were determined in 27…
Bleomycin Exerts Ambivalent Antitumor Immune Effect by Triggering Both Immunogenic Cell Death and Proliferation of Regulatory T Cells
2013
International audience; Bleomycin (BLM) is an anticancer drug currently used for the treatment of testis cancer and Hodgkin lymphoma. This drug triggers cancer cell death via its capacity to generate radical oxygen species (ROS). However, the putative contribution of anticancer immune responses to the efficacy of BLM has not been evaluated. We make here the observation that BLM induces immunogenic cell death. In particular, BLM is able to induce ROS-mediated reticulum stress and autophagy, which result in the surface exposure of chaperones, including calreticulin and ERp57, and liberation of HMBG1 and ATP. BLM induces anti-tumor immunity which relies on calreticulin, CD8(+) T cells and inte…
ROP, the Drosophila Sec1 homolog, interacts with syntaxin and regulates neurotransmitter release in a dosage-dependent manner.
1998
The Sec1 family of proteins is thought to function in both non-neuronal and neuronal secretion, although the precise role of this protein family has not been defined. Here, we study the function of ROP, the Drosophila Sec1 homolog, in neurotransmitter release. Electrophysiological analyses of transgenic lines overexpressing ROP and syntaxin, a presynaptic membrane protein, indicate that ROP interacts with syntaxin in vivo. Characterization of four point mutations in ROP shows that they fall into two phenotypic classes. Two mutations cause a dramatic reduction in both evoked and spontaneous neurotransmitter release. In contrast, the other two mutations reveal an increase in evoked neurotrans…
Clinical, pathologic, and genetic features of massive soft tissue neurofibromas in a Sicilian patient
2008
Abstract CONTEXT: Lipase maturation factor 1 (LMF1) gene is a novel candidate gene in severe hypertriglyceridemia. Lmf1 is involved in the maturation of lipoprotein lipase (LPL) and hepatic lipase in endoplasmic reticulum. To date only one patient with severe hypertriglyceridemia and related disorders was found to be homozygous for a nonsense mutation in LMF1 gene (Y439X). OBJECTIVE: The objective of the study was to investigate LMF1 gene in hypertriglyceridemic patients in whom mutations in LPL, APOC2, and APOA5 genes had been excluded. RESULTS: The resequencing of LMF1 gene led to the discovery of a novel homozygous nonsense mutation in one patient with severe hypertriglyceridemia and rec…
Measurement of the background in the NEMO 3 double beta decay experiment
2009
In the double beta decay experiment NEMO 3 a precise knowledge of the background in the signal region is of outstanding importance. This article presents the methods used in NEMO 3 to evaluate the backgrounds resulting from most if not all possible origins. It also illustrates the power of the combined tracking-calorimetry technique used in the experiment.
Breast-cancer predisposition in multiple endocrine neoplasia type 1
2014
Women with multiple endocrine neoplasia type 1 related to mutations in the gene encoding menin (MEN1) have approximately twice the risk of breast cancer as do women in the general population.
Correction:Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrom…
2020
Lynch syndrome (LS) results from pathogenic variants in the mismatch repair (MMR) genes and is the most common hereditary cancer syndrome, affecting an estimated 1 in 300 individuals. Pathogenic variants in each of the MMR genes path_MLH1, path_MSH2, path_MSH6, and path_PMS2 result in different risks for cancers in organs including the colorectum, endometrium, ovaries, stomach, small bowel, bile duct, pancreas, and upper urinary tract. Accurate estimates of these risks are essential for planning appropriate approaches to the prevention or early diagnosis of cancers but the robustness of previous studies has been limited by factors including retrospective design,1,2 lack of validation in ind…