Central Core and Multi-Minicore Disease

2012 ◽  
Keyword(s):  
Central Core ◽  
Minicore Disease

Central Core and Multi-Minicore Disease

2009 ◽  
pp. 300-302
Author(s):  
Nils Peters ◽  
Martin Dichgans ◽  
Sankar Surendran ◽  
Josep M. Argilés ◽  
Francisco J. López-Soriano ◽  
...  
Keyword(s):  
Central Core ◽  
Minicore Disease

scholarly journals Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytes

2006 ◽  
Vol 395 (2) ◽  
pp. 259-266 ◽  
Author(s):  
Sylvie Ducreux ◽  
Francesco Zorzato ◽  
Ana Ferreiro ◽  
Heinz Jungbluth ◽  
Francesco Muntoni ◽  
...  
Keyword(s):  
Amino Acid ◽  
Malignant Hyperthermia ◽  
Ryanodine Receptor ◽  
Receptor Gene ◽  
Receptor Activation ◽  
Central Core ◽  
Central Core Disease ◽  
Amino Acid Substitutions ◽  
Time Data ◽  
Minicore Disease

More than 80 mutations in the skeletal muscle ryanodine receptor gene have been found to be associated with autosomal dominant forms of malignant hyperthermia and central core disease, and with recessive forms of multi-minicore disease. Studies on the functional effects of pathogenic dominant mutations have shown that they mostly affect intracellular Ca2+ homoeostasis, either by rendering the channel hypersensitive to activation (malignant hyperthermia) or by altering the amount of Ca2+ released subsequent to physiological or pharmacological activation (central core disease). In the present paper, we show, for the first time, data on the functional effect of two recently identified recessive ryanodine receptor 1 amino acid substitutions, P3527S and V4849I, as well as that of R999H, another substitution that was identified in two siblings that were affected by multi-minicore disease. We studied the intracellular Ca2+ homoeostasis of EBV (Epstein–Barr virus)-transformed lymphoblastoid cells from the affected patients, their healthy relatives and control individuals. Our results show that the P3527S substitution in the homozygous state affected the amount of Ca2+ released after pharmacological activation with 4-chloro-m-cresol and caffeine, but did not affect the size of the thapsigargin-sensitive Ca2+ stores. The other substitutions had no effect on either the size of the intracellular Ca2+ stores, or on the amount of Ca2+ released after ryanodine receptor activation; however, both the P3527S and V4849I substitutions had a small but significant effect on the resting Ca2+ concentration.

A recessive form of central core disease, transiently presenting as multi-minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

2002 ◽  
Vol 51 (6) ◽  
pp. 750-759 ◽  
Author(s):  
Ana Ferreiro ◽  
Nicole Monnier ◽  
Norma B. Romero ◽  
Jean-Paul Leroy ◽  
Carsten Bönnemann ◽  
...  
Keyword(s):  
Ryanodine Receptor ◽  
Central Core ◽  
Central Core Disease ◽  
Receptor Type ◽  
Homozygous Mutation ◽  
Recessive Form ◽  
Minicore Disease

Ulcerogenic Tumors of the Pancreas

1968 ◽  
Vol 26 ◽  
pp. 186-187
Author(s):  
J. C. Garancis ◽  
J. F. Kuzma ◽  
S. D. Wilson ◽  
E. H. Ellison
Keyword(s):  
Endoplasmic Reticulum ◽  
Tumor Cells ◽  
Islet Cell ◽  
Disease Process ◽  
Central Core ◽  
Islet Cell Tumors ◽  
Opaque Zone ◽  
Granular Form ◽  
Zollinger Ellison Syndrome

It has been proposed that a gastrin-like hormone elaborated by non-beta islet tumors of the pancreas may be responsible for a fulminating ulcer diathesis. Subsequently, a potent gastric secretagogue was isolated from ulcerogenic tumors of the pancreas. This disease process is known now as “Zollinger-Ellison syndrome”.In our studies of two cases of Zollinger-Ellison syndrome, pancreatic lesions were identified as alpha islet cell tumors (Fig. 1). Tumor cells were fairly uniform. The sizes of the alpha granules were not significantly different, but their number and distribution varied greatly from one cell to another. Each granule consisted of a round, highly dense central core, separated from the limiting membrane by an opaque zone. The granular form of the endoplasmic reticulum was particularly prominent. Numerous mitochondria, round or elongated, were dispersed throughout the cytoplasm. Individual or clusters of lysosomes were observed in the majority of cells.

The Taxonomic Structuring of Medical Information and its Usefulness in this Form

1965 ◽  
Vol 04 (03) ◽  
pp. 112-114 ◽  
Author(s):  
H. Zinsser
Keyword(s):  
Subject Matter ◽  
Medical Information ◽  
Central Core ◽  
Diagnostic Strategy ◽  
Programmed Instruction ◽  
Orderly Fashion ◽  
The Subject

An outline has been presented in historical fashion of the steps devised to organize the central core of medical information allowing the subject matter, the patient, to define the nature and the progression of the diseases from which he suffers, with and without therapy; and approaches have been made to organize this information in such fashion as to align the definitions in orderly fashion to teach both diagnostic strategy and the content of the diseases by programmed instruction.

Contemporary architectural production in the Alpine area through the lens of regionality

ARCHALP ◽  
2018 ◽  
pp. 11-13
Author(s):  
Antonio De Rossi ◽  
Roberto Dini ◽  
Stefano Girodo
Keyword(s):  
State Of The Art ◽  
Central Core ◽  
Scientific Committee ◽  
Wide Angle ◽  
Scientific Validity ◽  
Architectural Production ◽  
Alpine Regions ◽  
Alpine Area ◽  
Building Culture ◽  
Alpine Space

Given that this is the inaugural edition, we thought that the first issue of the international journal «ArchAlp» needed to be characterized by a wide angle view, taking shape as sort of veritable tour d’horizon of the alpine space. Thinking with the scientific committee of the journal, it seemed to us that a reflection on the characteristics of contemporary architectural production in the European Alpine area, starting from regionally-based analyses and interpretations, could be very important. A description of the state of the art, which in order to have scientific validity must be based on comparative interpretations, has the aim of restoring continuity and differences in the “building culture” among the various Alpine regions. From here the idea of building the central core around a series of local monographs.

Finitude and Flow

2018 ◽  
Author(s):  
Jonardon Ganeri
Keyword(s):  
Central Core ◽  
Core Self

It is far from uncommon for thinkers to appeal to the idea of a central core of personality, and indeed to equate it with a conception of self. This chapter argues that this notion of a ‘core self’ is best explicated in terms of a notion of the centring of the space of awareness by attention. It argues further that an account of self-narratives is consistent with an apophatic conception of persons. The experience of death is that of a reliving of an event that sums up what is of greatest significance in one’s life.

scholarly journals Fluorenone imidazolium salts as novel de Vries materials

RSC Advances ◽  
2020 ◽  
Vol 10 (40) ◽  
pp. 23999-24016
Author(s):  
Korinna Bader ◽  
Carsten Müller ◽  
Yann Molard ◽  
Angelika Baro ◽  
Philipp Ehni ◽  
...  
Keyword(s):  
Central Core ◽  
Side Chain ◽  
Head Group ◽  
Imidazolium Salts ◽  
De Vries

ILCs consisting of cationic head group–spacer–fluorenone central core–side chain show de Vries-like behaviour.

Amino acids flanking the central core of Cu,Zn superoxide dismutase are important in retaining enzyme activity after autoclaving

2016 ◽  
Vol 34 (3) ◽  
pp. 475-485 ◽  
Author(s):  
Arun Kumar ◽  
Vinay Randhawa ◽  
Vishal Acharya ◽  
Kashmir Singh ◽  
Sanjay Kumar
Keyword(s):  
Amino Acids ◽  
Superoxide Dismutase ◽  
Enzyme Activity ◽  
Central Core
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