Defective Glycosaminoglycan Substitution of Decorin in a Patient With Progeroid Syndrome Is a Direct Consequence of Two Point Mutations in the Galactosyltransferase I (�4galT-7) Gene

2005 ◽  
Vol 43 (1-2) ◽  
pp. 65-77 ◽  
Author(s):  
Martin G�tte ◽  
Hans Kresse
Keyword(s):  
Point Mutations ◽  
Direct Consequence ◽  
Progeroid Syndrome ◽  
Galactosyltransferase I

Electron Diffraction Analysis of Microtwin Structures in Regrown (III) Silicon

1982 ◽  
Vol 40 ◽  
pp. 460-461
Author(s):  
P. Ling ◽  
R. Gronsky ◽  
J. Washburn
Keyword(s):  
Electron Diffraction ◽  
Ion Implantation ◽  
Diffraction Analysis ◽  
Diffraction Pattern ◽  
Direct Consequence ◽  
The Other ◽  
Electron Diffraction Analysis ◽  
Defect Microstructures ◽  
Ion Implanted

The defect microstructures of Si arising from ion implantation and subsequent regrowth for a (111) substrate have been found to be dominated by microtwins. Figure 1(a) is a typical diffraction pattern of annealed ion-implanted (111) Si showing two groups of extra diffraction spots; one at positions (m, n integers), the other at adjacent positions between <000> and <220>. The object of the present paper is to show that these extra reflections are a direct consequence of the microtwins in the material.

Audiology Service Models in a Family Physician Practice Setting

2010 ◽  
Vol 6 (1) ◽  
pp. 24-32 ◽  
Author(s):  
Sridhar Krishnamurti
Keyword(s):  
Pediatric Patients ◽  
Practice Patterns ◽  
Healthcare Delivery ◽  
Direct Consequence ◽  
Direct Access ◽  
Practice Setting ◽  
Pediatric Populations ◽  
Family Practice Physicians ◽  
Primary Focus ◽  
Balance Problems

This article illustrates the potential of placing audiology services in a family physician’s practice setting to increase referrals of geriatric and pediatric patients to audiologists. The primary focus of family practice physicians is the diagnosis/intervention of critical systemic disorders (e.g., cardiovascular disease, diabetes, cancer). Hence concurrent hearing/balance disorders are likely to be overshadowed in such patients. If audiologists get referrals from these physicians and have direct access to diagnose and manage concurrent hearing/balance problems in these patients, successful audiology practice patterns will emerge, and there will be increased visibility and profitability of audiological services. As a direct consequence, audiological services will move into the mainstream of healthcare delivery, and the profession of audiology will move further towards its goals of early detection and intervention for hearing and balance problems in geriatric and pediatric populations.

A Novel Mutation Glyl672→Arg in Type 2A and a Homozygous Mutation in Type 2B von Willebrand Disease

1996 ◽  
Vol 76 (02) ◽  
pp. 253-257 ◽  
Author(s):  
Takeshi Hagiwara ◽  
Hiroshi Inaba ◽  
Shinichi Yoshida ◽  
Keiko Nagaizumi ◽  
Morio Arai ◽  
...  
Keyword(s):  
Missense Mutation ◽  
Novel Mutation ◽  
Point Mutations ◽  
Japanese Patients ◽  
Von Willebrand Disease ◽  
Homozygous Mutation ◽  
Missense Mutations ◽  
Reaction Products ◽  
Type 3 ◽  
Von Willebrand

SummaryGenetic materials from 16 unrelated Japanese patients with von Willebrand disease (vWD) were analyzed for mutations. Exon 28 of the von Willebrand factor (vWF) gene, where point mutations have been found most frequent, was screened by various restriction-enzyme analyses. Six patients were observed to have abnormal restriction patterns. By sequence analyses of the polymerase chain-reaction products, we identified a homozygous R1308C missense mutation in a patient with type 2B vWD; R1597W, R1597Q, G1609R and G1672R missense mutations in five patients with type 2A; and a G1659ter nonsense mutation in a patient with type 3 vWD. The G1672R was a novel missense mutation of the carboxyl-terminal end of the A2 domain. In addition, we detected an A/C polymorphism at nucleotide 4915 with HaeIII. There was no particular linkage disequilibrium of the A/C polymorphism, either with the G/A polymorphism at nucleotide 4391 detected with Hphl or with the C/T at 4891 detected with BstEll.

PREVALENCE OF COMMON MITOCHONDRIAL POINT MUTATIONS IN AUTISM

2006 ◽  
Vol 37 (S 1) ◽  
Author(s):  
FJ Serajee ◽  
H Zhong ◽  
AHMM Huq
Keyword(s):  
Point Mutations

THE EFFECT OF GONADECTOMY ON THE RESPONSE OF THE PITUITARY I. C. S. H.-CONTENT TO STEROID SEX HORMONES

1960 ◽  
Vol XXXV (II) ◽  
pp. 245-252 ◽  
Author(s):  
G. P. van Rees ◽  
F. J. A. Paesi
Keyword(s):  
Sex Hormones ◽  
Sex Steroids ◽  
Low Dose ◽  
Testosterone Propionate ◽  
Preceding Paper ◽  
Direct Consequence ◽  
Two Factors ◽  
Reflex Stimulation ◽  
Steroid Sex Hormones ◽  
Stimulation Of

ABSTRACT In the experiments reported in this paper the hypothesis that the decrease in the pituitary I. C. S. H.-content, which occurs after administration of steroid sex hormones in gonadectomized animals, is counteracted by a reflex stimulation of the hypophysis initiated by the operation has been investigated. If treatment with a low dose of testosterone propionate (100 μg) was started immediately after castration, the resulting decrease in the pituitary I. C. S. H.-content became more marked if the reflex stimulation of the hypophysis had been prevented. If, however, two months were allowed to elapse before the beginning of treatment, the presence or absence of this reflex was no longer of importance for the effect of testosterone propionate on the pituitary I. C. S. H.-content. And yet, in this case too, the decrease in the pituitary I. C. S. H.-content by testosterone propionate was less than in intact animals (see preceding paper). Hence this decrease appears to be counteracted by two factors: one rapidly occurring and short lasting, resulting from a reflex elicited by gonadectomy; the other gradually increasing in potency and possibly a direct consequence of the continued absence of pituitary inhibiting sex steroids.

Scanning-tunneling spectroscopy on conjugated polymer films

2003 ◽  
Vol 771 ◽  
Author(s):  
M. Kemerink ◽  
S.F. Alvarado ◽  
P.M. Koenraad ◽  
R.A.J. Janssen ◽  
H.W.M. Salemink ◽  
...  
Keyword(s):  
Polymer Films ◽  
Conjugated Polymer ◽  
Three Dimensional ◽  
Field Enhancement ◽  
Direct Consequence ◽  
Scanning Tunneling Spectroscopy ◽  
Tunneling Spectroscopy ◽  
Band Alignment ◽  
Scanning Tunneling ◽  
Order Of Magnitude

AbstractScanning-tunneling spectroscopy experiments have been performed on conjugated polymer films and have been compared to a three-dimensional numerical model for charge injection and transport. It is found that field enhancement near the tip apex leads to significant changes in the injected current, which can amount to more than an order of magnitude, and can even change the polarity of the dominant charge carrier. As a direct consequence, the single-particle band gap and band alignment of the organic material can be directly obtained from tip height-voltage (z-V) curves, provided that the tip has a sufficiently sharp apex.

Sign in / Sign up

Export Citation Format

Share Document