 Methods and compositions for obtaining mature dendritic cells |
| OF THE INVENTION This invention relates to methods and compositions useful for promoting the ... |
|
| Nucleic acid encoding a lectin-derived progenitor cell preservation factor |
| It has now been discovered that these and other objectives can be achieved by the present invention,... |
|
| Ligand for vascular endothelial growth factor receptor |
| We claim: 1. A compound comprising amino acid sequence Glu-Ile-Glu-Trp-Tyr-Ser-Trp-Val-Thr-His-Gly-M... |
|
| Immunoliposomes that optimize internalization into target cells |
| The present invention provides novel immunoliposomes optimized for delivering therapeutic agents to ... |
|
| Virus-like particles for the induction of autoantibodies |
| The inventors have discovered compositions and methods of increasing the titers of antibodies to ... |
|
| Ferritin analogs |
| Despite the fact that ferritin is extremely selective in accumulating, storing and dispensing iron ... |
|
| Methods of treatment using anti-ErbB antibody-maytansinoid conjugates |
| What is claimed is: 1. A method for the treatment of a tumor in a mammal, comprising the steps of (... |
|
| Methods for diagnosing early Lyme disease |
| This invention is based upon the discovery that sera from patients with early Lyme disease contain ... |
|
| Tango 243 polypeptides and uses thereof |
| The present invention is based, at least in part, on the discovery of cDNA molecules which encode ... |
|
|
Diagnosis and treatment of supravalvular aortic stenosis and Williams syndrome
| Details |
Inventors: Keating, Mark T.; Leppert, Mark F.; Morris, Colleen A.;
Assignee: University of Utah Research Foundation (Salt Lake City, UT)
Primary Examiner: Sisson; Bradley L.
Assistant Examiner:
Attorney, Agent or Firm: Venable, Baetjer, Howard & Civiletti, LLP
The invention relates to the identification of the molecular basis of supravalvular aortic stenosis (SVAS) and Williams syndrome. More specifically, the invention has identified that elastin causes or is involved in the pathogenesis of SVAS and Williams syndrome. Molecular variants of the elastin gene contribute to SVAS and Williams syndrome. The analysis of the elastin gene will provide an early diagnosis of subjects with SVAS and Williams syndrome. The diagnostic method comprises analyzing the DNA sequence of the elastin gene of an individual to be tested and comparing it with the DNA sequence of the native, non-variant elastin gene. In a second embodiment, the elastin gene of an individual to be tested is screened for mutations associated with SVAS or Williams syndrome. Presymptomatic diagnosis of SVAS and Williams syndrome will enable practitioners to prevent vascular obstruction using existing medical therapies like beta adrenergic blocking agents. |
|
DETAILED DESCRIPTION OF THE INVENTION The present invention is directed to the determination that SVAS and Williams syndrome map to the elastin gene and that molecular variants of the elastin gene cause or are involved in the pathogenesis of SVAS and Williams syndrome.
The present invention is further directed to methods of screening humans for the presence of elastin gene variants associated with SVAS or Williams syndrome.
Since SVAS or Williams syndrome can now be detected earlier (i.
e.
, before symptoms appear) and more definitively, better treatment options will be available in those individuals identified as having SVAS or Williams syndrome.
Finally, the present invention has implications for the cause and treatment of common vascular disease, such as atherosclerosis.
Supravalvular aortic stenosis (SVAS) is an inherited disorder that causes hemodynamically significant narrowing of the ascending aorta and other arteries.
SVAS can be inherited as an isolated trait or as part of the Williams syndrome, a developmental disorder that also results in hypertension, mental retardation, a personality disorder and premature aging of the skin.
Two approaches have been utilized herein to identify the elastin gene as the cause of SVAS and Williams syndrome, namely linkage analysis and the identification and characterization of disease-associated gene abnormalities.
In linkage analysis, one attempts to identify co-inheritance of a phenotype (e.
g.
, SVAS) and a genotype (DNA polymorphism).
Disease-associated gene abnormalities include chromosomal rearrangements, gross and microscopic deletions or additions, and sequence differences.
These two approaches led to the identification of the elastin gene as the cause of SVAS and Williams syndrome.
SVAS was completely linked to the elastin locus on chromosome 7q11 by phenotypic and linkage analyses (details provided in the Examples) by studying two multigenerational families with SVAS.
Kindred 1773 is a Kentucky family of Irish decent and consists of 47 family members who are at risk for SVAS (FIG
|
| Related patents |
|
|
Biological material pre-fixation treatment
OF PREFERRED EMBODIMENTS In one aspect, the present invention relates to an improved bioprosthetic heart valve having an improved resistance to post-implantation ...
|
|
|
Matrix substrate for a viable body tissue-derived prosthesis and method for making the same
OF THE INVENTION The present invention covers a process that thoroughly removes intact cells from body tissues such as vascular structures including the porcine heart ...
|
|
|
Barrier webs having bioactive surfaces
What is claimed is: 1. A bioactive substrate comprising: a support; and a bioactive surface thereon, wherein the bioactive surface comprises: a shear-thinable, ...
|
|
|
Biopolymer foams for use in tissue repair and reconstruction
OF THE INVENTION The present invention features biopolymer foams, composite biopolymer foams, biocompatible constructs comprising biopolymer foams and extracellular ...
|
|
|
Periodate oxidative method for attachment of biomolecules to medical device surfaces
OF THE INVENTION As used in the specification and claims hereof, the following terms have the particular meanings and definitions set forth below. I define the term "...
|
|
|
Self-aligning peptides modeled on human elastin and other fibrous proteins
OF PREFERRED EMBODIMENTS The present invention is directed to unique polypeptides modeled on human elastin and other naturally occurring fibrous proteins. While the ...
|
|
|
Prosthetic devices including elastin or elastin-based materials
It is a specific object of the invention to provide an elastin-based prosthetic device suitable for use as a stent, for example, a vascular stent. The present invention ...
|
|
|
Peptides containing N-substituted L-amino acids for preventing .beta.-strand association
The invention claimed is: 1. A peptide comprising a peptide, wherein: (a) said peptide comprises a .beta.-strand-forming section, said section consisting of four to ...
|
|
|
Lectins and antiretroviral drugs containing the lectins as active ingredient
OF THE INVENTION The lectins of the present invention are obtained from the plants of the class Dicotyledoneae and have a function for inhibiting the reverse ...
|
|
|
Activated dendritic cells and methods for their activation
The present invention pertains to a method of activating dendritic cells to enhance antigen presenting capacity. The activated, antigen-presenting dendritic cells of the ...
|
|
|
Drugs 
