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Full-Text Articles in Biology
Mapping A Gene For Familial Hypertrophic Cardiomyopathy To Chromosome 14q1, John Jarcho, William Mckenna, J.A. Peter Pare, Scott Solomon, Randall Holcombe, Shaughan Dickie, Tatjana Levi, Helen Donis-Keller, J.G. Seidman, Christine Seidman
Mapping A Gene For Familial Hypertrophic Cardiomyopathy To Chromosome 14q1, John Jarcho, William Mckenna, J.A. Peter Pare, Scott Solomon, Randall Holcombe, Shaughan Dickie, Tatjana Levi, Helen Donis-Keller, J.G. Seidman, Christine Seidman
Helen Donis-Keller
To identify the chromosomal location of a gene responsible for familial hypertrophic cardiomyopathy, we used clinical and molecular genetic techniques to evaluate the members of a large kindred. Twenty surviving and 24 deceased family members had hypertrophic cardiomyopathy; 58 surviving members were unaffected. Genetic-linkage analyses were performed with polymorphic DNA loci dispersed throughout the entire genome, to identify a locus that was inherited with hypertrophic cardiomyopathy in family members. The significance of the linkage detected between the disease locus and polymorphic loci was assessed by calculating a lod score (the logarithm of the probability of observing coinheritance of two loci, …
Mapping The Gene For Hereditary Cutaneous Malignant Melanoma-Dysplastic Nevus To Chromosome 1p, Sherri J. Bale, Nicholas C. Dracopoli, Margaret A. Tucker, Wallace H. Clark, Jr., Mary C. Fraser, Ben Z. Stanger, Philip Green, Helen Donis-Keller, David E. Housman, Mark H. Greene
Mapping The Gene For Hereditary Cutaneous Malignant Melanoma-Dysplastic Nevus To Chromosome 1p, Sherri J. Bale, Nicholas C. Dracopoli, Margaret A. Tucker, Wallace H. Clark, Jr., Mary C. Fraser, Ben Z. Stanger, Philip Green, Helen Donis-Keller, David E. Housman, Mark H. Greene
Helen Donis-Keller
We used molecular genetic techniques and multipoint linkage analyses to locate the gene responsible for cutaneous malignant melanoma-dysplastic nevus. We evaluated 99 relatives and 26 spouses in six families with a predisposition to melanoma. Thirty-four family members had cutaneous malignant melanoma, and 31 of these 34 also had histologically confirmed dysplastic nevi. Twenty-four family members had dysplastic nevi alone. An analysis of the cosegregation of the cutaneous malignant melanoma–dysplastic nevus trait with 26 polymorphic DNA markers on the short arm of chromosome 1 demonstrated the presence of a gene for susceptibility to melanoma. The gene was located between an anonymous …
Ena/Vasp Is Required For Endothelial Barrier Function In Vivo, Craig Furman, Alisha L. Sieminski, Adam V. Kwiatkowski, Douglas A. Rubinson, Eliza Vasile, Roderick T. Bronson, Reinhard Fassler
Ena/Vasp Is Required For Endothelial Barrier Function In Vivo, Craig Furman, Alisha L. Sieminski, Adam V. Kwiatkowski, Douglas A. Rubinson, Eliza Vasile, Roderick T. Bronson, Reinhard Fassler
Alisha L. Sarang-Sieminski
Enabled/vasodilator-stimulated phosphoprotein (Ena/VASP) proteins are key actin regulators that localize at regions of dynamic actin remodeling, including cellular protrusions and cell-cell and cell-matrix junctions. Several studies have suggested that Ena/VASP proteins are involved in the formation and function of cellular junctions. Here, we establish the importance of Ena/VASP in endothelial junctions in vivo by analysis of Ena/VASP-deficient animals. In the absence of Ena/VASP, the vasculature exhibits patterning defects and lacks structural integrity, leading to edema, hemorrhaging, and late stage embryonic lethality. In endothelial cells, we find that Ena/VASP activity is required for normal F-actin content, actomyosin contractility, and proper response …