Search results for "hereditary"

Health-Related Quality Of Life (HRQoL) In Adult Patients With Hereditary Angioedema Due To C1 Inhibitor Deficiency (HAE-C1-INH) Assessed By SF-36v2

2014

IHAE-Qol: Specific Health-Related Quality Of Life (HRQoL) Questionnaire In Hereditary Angioedema Due To C1 Inhibitor Deficiency (HAE-C1INH)

2014

Perlecan Maintains the Integrity of Cartilage and Some Basement Membranes

1999

Perlecan is a heparan sulfate proteoglycan that is expressed in all basement membranes (BMs), in cartilage, and several other mesenchymal tissues during development. Perlecan binds growth factors and interacts with various extracellular matrix proteins and cell adhesion molecules. Homozygous mice with a null mutation in the perlecan gene exhibit normal formation of BMs. However, BMs deteriorate in regions with increased mechanical stress such as the contracting myocardium and the expanding brain vesicles showing that perlecan is crucial for maintaining BM integrity. As a consequence, small clefts are formed in the cardiac muscle leading to blood leakage into the pericardial cavity and an ar…

Hepatic transferrin receptors in hereditary hemochromatosis.

1988

Exact mechanical models of fractional hereditary materials

2012

Fractional Viscoelasticity is referred to materials, whose constitutive law involves fractional derivatives of order β R such that 0 β 1. In this paper, two mechanical models with stress-strain relation exactly restituting fractional operators, respectively, in ranges 0 β 1 / 2 and 1 / 2 β 1 are presented. It is shown that, in the former case, the mechanical model is described by an ideal indefinite massless viscous fluid resting on a bed of independent springs (Winkler model), while, in the latter case it is a shear-type indefinite cantilever resting on a bed of independent viscous dashpots. The law of variation of all mechanical characteristics is of power-law type, strictly related to th…

Fractional multiphase hereditary materials: Mellin Transforms and Multi-Scale Fractances

2013

The rheological features of several complex organic natural tissues such as bones, muscles as well as of complex artificial polymers are well described by power-laws. Indeed, it is well-established that the time-dependence of the stress and the strain in relaxation/creep test may be well captured by power-laws with exponent β ∈ [0, 1]. In this context a generalization of linear springs and linear dashpots has been introduced in scientific literature in terms of a mechanical device dubbed spring-pot. Recently the authors introduced a mechanical analogue to spring-pot built upon a proper arrangements of springs and dashpots that results in Elasto-Viscous (EV) materials, as β ∈ [0, 1/2] and Vi…

Hereditäre Pankreatitis - Eine klinisch relevante Ursache des Pankreaskarzinoms? -

2001

UNLABELLED Hereditary pancreatitis is an autosomal dominant disease. Recently, the genetic defect has been mapped to chromosome 7q35 and consists mainly of a point mutation in exon 3 of the cationic trypsinogen gene which causes an Arg(CGC)-His(CAC) substitution at residue 117. In patients with hereditary pancreatitis the estimated cumulative risk for pancreatic carcinoma to age 70 approaches 40 %. Thus, the role of hereditary pancreatitis in the pathogenesis of pancreatic carcinoma is of interest. PATIENTS AND METHODS DNA was extracted from peripheral blood (n = 16), fresh tumor tissue (n = 29) and formalin fixed and paraffin embedded tumor tissue (n = 5) of 50 patients with ductal adenoca…

Association of Variants in the SPTLC1 Gene with Juvenile Amyotrophic Lateral Sclerosis

2021

Key Points Question What genetic variants are associated with juvenile amyotrophic lateral sclerosis (ALS)? Findings In this family-based genetic study, exome sequencing was performed in 3 patients diagnosed with juvenile ALS and failure to thrive; this identified de novo variants in SPTLC1 (p.Ala20Ser in 2 patients and p.Ser331Tyr in 1 patient). Variants in SPTLC1 are a known cause of hereditary sensory and autonomic neuropathy, type 1A, and these data extend the phenotype associated with this gene. Meaning De novo variants in the SPTLC1 gene are associated with juvenile ALS, a fatal neurological disorder.

Screening of hereditary spastic paraplegia patients for alterations at NIPA1 mutational hotspots.

2008

Item does not contain fulltext Mutations in NIPA1 cause hereditary spastic paraplegia type 6 (SPG6 HSP). Sequencing of the whole gene has revealed alterations of either of two nucleotides in eight of nine SPG6 HSP families reported to date. By analysing CpG methylation, we provide a mechanistic explanation for a mutational hotspot to underlie frequent alteration of one of these nucleotides. We also developed PCR RFLP assays to detect recurrent NIPA1 changes and screened 101 independent HSP patients, including 45 index patients of autosomal dominant HSP families. Our negative finding in this cohort for which several other causes of HSP had been excluded suggests NIPA1 alterations at mutation…

Lipid Droplets in the Pathogenesis of Hereditary Spastic Paraplegia

2021

Hereditary spastic paraplegias (HSPs) are genetically heterogeneous conditions caused by the progressive dying back of the longest axons in the central nervous system, the corticospinal axons. A wealth of data in the last decade has unraveled disturbances of lipid droplet (LD) biogenesis, maturation, turnover and contact sites in cellular and animal models with perturbed expression and function of HSP proteins. As ubiquitous organelles that segregate neutral lipid into a phospholipid monolayer, LDs are at the cross-road of several processes including lipid metabolism and trafficking, energy homeostasis, and stress signaling cascades. However, their role in brain cells, especially in neurons…