Search results for "Phenotype"

Hereditary gingival fibromatosis: clinical and ultrastructural features of a new family

2014

Objective: This article describes the diagnosis, clinical and microscopic (histopathology and ultrastructural) features and treatment of a new family with hereditary gingival fibromatosis (HGF) and highlights the importance of this genetic condition. Study Design: To characterize the pattern of inheritance and the clinical features, members of a new family with HGF were examined. The pedigree was reliably constructed including the four latest generations of family. Hematoxylin and eosin staining and ultrastructural analysis were performed with the gingival tissue. Results: Examination of the family pedigree revealed that the patient III-2 represent the index patient of this family (initial …

The continuity of effect of schizophrenia polygenic risk score and patterns of cannabis use on transdiagnostic symptom dimensions at first-episode ps…

2021

The work was supported by Guarantors of Brain post-doctoral clinical fellowship to DQ; Clinician Scientist Medical Research Council fellowship (project reference MR/M008436/1) to MDF; Heisenberg professorship from the German Research Founda- tion (grant no. 389624707) to UR; the National Institute for Health Research (NIHR) Maudsley Biomedical Research Centre at South London and Maudsley NHS Foundation Trust and King’s College London. The views expressed are those of the author(s) and not necessarily those of the NHS, the NIHR or the Department of Health and Social Care. The EU-GEI Project is funded by the European Community’s Seventh Framework Programme under grant agreement No. HEALTH-F2-…

Rare dyslipidaemias, from phenotype to genotype to management: a European Atherosclerosis Society task force consensus statement

2020

Genome sequencing and gene-based therapies appear poised to advance the management of rare lipoprotein disorders and associated dyslipidaemias. However, in practice, underdiagnosis and undertreatment of these disorders are common, in large part due to interindividual variability in the genetic causes and phenotypic presentation of these conditions. To address these challenges, the European Atherosclerosis Society formed a task force to provide practical clinical guidance focusing on patients with extreme concentrations (either low or high) of plasma low-density lipoprotein cholesterol, triglycerides, or high-density lipoprotein cholesterol. The task force also recognises the scarcity of qua…

OFD1mutations in males: phenotypic spectrum and ciliary basal body docking impairment

2012

Lipid triad or atherogenic lipoprotein phenotype: a role in cardiovascular prevention?

2005

The term "lipid triad" or "atherogenic lipoprotein phenotype" has been introduced to describe a common form of dyslipidemia, characterized by three lipid abnormalities: increased plasma triglyceride levels, decreased HDL-cholesterol concentrations and the presence of small, dense LDL particles. It has been suggested that the clinical importance of the atherogenic lipoprotein phenotype probably exceeds that of LDL-cholesterol, because many more patients with coronary artery disease are found to have this trait than hypercholesterolaemia. There is a body of evidence that therapies effective against plasma HDL-cholesterol and triglycerides are associated with a strong reduction of cardiovascul…

Update on the role of the atherogenic lipoprotein phenotype in cardiovascular prevention

2009

Higher plasma triglyceride levels and decreased HDL-cholesterol concentrations are usually accompanied by the presence of small, dense LDL in the so-called lipid triad or ‘atherogenic lipoprotein phenotype’. This phenotype is highly atherogenic and its prevalence may suggest an even higher overall burden of atherosclerotic disease as compared with that associated with hypercholesterolemia. As stated by the National Cholesterol Education Program Adult Treatment Panel III, there is evidence suggesting each component of this lipid triad is individually atherogenic. However, the relative contribution of each component cannot be easily determined. Therefore, it has been suggested to consider th…

Should we measure routinely the LDL peak particle size?

2004

Low density lipoproteins (LDL) do not show in humans a normal distribution and comprise two different main fractions: large, buoyant (phenotype pattern A) and small, dense (phenotype pattern B) particles, that differ not only in size and density but also in physicochemical composition, metabolic behaviour and atherogenicity. The prevalence of small, dense LDL changes with age (30-35% in adult men, 5-10% in men <20 years and in pre-menopausal women, 15-25% in postmenopausal women) and is genetically influenced, with a heritability ranging from 35% to 45%. Small, dense LDL correlate negatively with plasma HDL levels and positively with plasma triglyceride levels and are associated with the me…

Retarded thymic involution and massive germinal center formation in NF-ATp-deficient mice.

1998

NF-ATp and NF-ATc are the most prominent nuclear NF-AT transcription factors in peripheral T lymphocytes. After T cell activation both factors bind to and control the promoters and enhancers of numerous lymphokine and receptor ligand genes. In order to define a specific role for NF-ATp in vivo we have inactivated the NF-ATp gene by gene targeting in mice. We show that NF-ATp deficiency leads to the accumulation of peripheral T cells with a “preactivated” phenotype, enhanced immune responses of T cells after secondary stimulation in vitro and severe defects in the proper termination of antigen responses, as shown by a reduced deletion of superantigen-reactive CD4+ T cells. These alterations …

Developmental expression of human cartilage matrix protein.

1994

Cartilage matrix protein (CMP) is a non-collagenous component of cartilage with a yet unknown function. In this study we used in situ hybridization to investigate the temporal and sptial distribution of CMP transcripts during human embryonic and early fetal development, and compared it to the pattern of expression observed for collagen types I, II, X, and decorin. The distribution of CMP and collagen type II transcripts followed a similar pattern in the embryonic bone anlage, the fetal growth plate, and the developing vertebral column. Expression was highest in the upper hypertrophic and lower proliferative zone, whereas calcified cartilage was negative throughout the different stages of bo…

Liver specific deletion of CYLDexon7/8 induces severe biliary damage, fibrosis and increases hepatocarcinogenesis in mice

2012

Background & Aims CYLD is a tumor suppressor gene that is mutated in familial cylindromatosis, an autosomal dominant predisposition to tumors of skin appendages. Reduced CYLD expression has been observed in other tumor entities, including hepatocellular carcinoma. In the present study, we analyzed the role of CYLD in liver homeostasis and hepatocarcinogenesis in vivo . Methods Mice with liver-specific deletion of CYLDexon7/8 ( CYLD FF xAlbCre ) were generated. Liver tissues were histologically analyzed and oval cell activation was investigated. Hepatocarcinogenesis was induced by diethylnitrosamine/phenobarbital (DEN/PB). Microarray expression profiling of livers was performed in untreated …