The Experts below are selected from a list of 121998 Experts worldwide ranked by ideXlab platform
M C Hors-cayla - One of the best experts on this subject based on the ideXlab platform.
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DELETIONS OF Collagen Type 4 ALPHA 5 GENE IN 4 FAMILIES WITH ALPORT'S SYNDROME
Pediatric Research, 1992Co-Authors: M Sanak, K. Tryggvason, R M Rad, G Dechennes, M C Gubler, S Heuertz, J P Grunfeld, M Broys, Jing Zhou, M C Hors-caylaAbstract:Alport's syndrome (AS) is manifested by progressive renal disease with typical basement membranes morphology and frequent association wtth ocular signs and deafness. This hereditary disease has been assigned to the Collagen Type IV alpha 5 gene (COL4A5) located on X chromosome and several mutations have been reported. We present 4 families in which gross deletion of COL4A5 were found as a cause of AS. Using standard Southern blot technique and cDNA probes of COL4A5 absence of restriction fragments or presence of ‘junction” fragments proved a mechanism of the mutation. The span of deletion varied at least from 1.6 to 94 kb. Nonetheless the basic clinical features of the families were indifferent. Deletion of promoter region of COL4A5 In family TR, which might affected another gene, was associated with generalized leiomyomatosis in AS patients - a rare syndromal phenomenon.
M Sanak - One of the best experts on this subject based on the ideXlab platform.
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DELETIONS OF Collagen Type 4 ALPHA 5 GENE IN 4 FAMILIES WITH ALPORT'S SYNDROME
Pediatric Research, 1992Co-Authors: M Sanak, K. Tryggvason, R M Rad, G Dechennes, M C Gubler, S Heuertz, J P Grunfeld, M Broys, Jing Zhou, M C Hors-caylaAbstract:Alport's syndrome (AS) is manifested by progressive renal disease with typical basement membranes morphology and frequent association wtth ocular signs and deafness. This hereditary disease has been assigned to the Collagen Type IV alpha 5 gene (COL4A5) located on X chromosome and several mutations have been reported. We present 4 families in which gross deletion of COL4A5 were found as a cause of AS. Using standard Southern blot technique and cDNA probes of COL4A5 absence of restriction fragments or presence of ‘junction” fragments proved a mechanism of the mutation. The span of deletion varied at least from 1.6 to 94 kb. Nonetheless the basic clinical features of the families were indifferent. Deletion of promoter region of COL4A5 In family TR, which might affected another gene, was associated with generalized leiomyomatosis in AS patients - a rare syndromal phenomenon.
Mark A. Kirkland - One of the best experts on this subject based on the ideXlab platform.
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Toward a skin-material interface with vacuum-integrated capped macroporous scaffolds
Journal of biomedical materials research. Part B Applied biomaterials, 2016Co-Authors: Gil D. Stynes, George Kiroff, Wayne A. Morrison, Richard S. Page, Mark A. KirklandAbstract:Avulsion, epidermal marsupialization, and infection cause failure at the skin-material interface. A robust interface would permit implantable robotics, prosthetics, and other medical devices; reconstruction of surgical defects, and long-term access to blood vessels and body cavities. Torus-shaped cap-scaffold structures were designed to work in conjunction with negative pressure to address the three causes of failure. Six wounds were made on the backs of each of four 3-month old pigs. Four unmodified (no caps) scaffolds were implanted along with 20 cap-scaffolds. Collagen Type 4 was attached to 21 implants. Negative pressure then was applied. Structures were explanted and assessed histologically at day 7 and day 28. At day 28, there was close tissue apposition to scaffolds, without detectable reactions from defensive or interfering cells. Three cap-scaffolds explanted at day 28 showed likely attachment of epidermis to the cap or cap-scaffold junction, without deeper marsupialization. The combination of toric-shaped cap-scaffolds with negative pressure appears to be an intrinsically biocompatible system, enabling a robust skin-material interface. © 2016 Wiley Periodicals, Inc. J Biomed Mater Res Part B: Appl Biomater, 105B: 1307-1318, 2017.
R M Rad - One of the best experts on this subject based on the ideXlab platform.
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DELETIONS OF Collagen Type 4 ALPHA 5 GENE IN 4 FAMILIES WITH ALPORT'S SYNDROME
Pediatric Research, 1992Co-Authors: M Sanak, K. Tryggvason, R M Rad, G Dechennes, M C Gubler, S Heuertz, J P Grunfeld, M Broys, Jing Zhou, M C Hors-caylaAbstract:Alport's syndrome (AS) is manifested by progressive renal disease with typical basement membranes morphology and frequent association wtth ocular signs and deafness. This hereditary disease has been assigned to the Collagen Type IV alpha 5 gene (COL4A5) located on X chromosome and several mutations have been reported. We present 4 families in which gross deletion of COL4A5 were found as a cause of AS. Using standard Southern blot technique and cDNA probes of COL4A5 absence of restriction fragments or presence of ‘junction” fragments proved a mechanism of the mutation. The span of deletion varied at least from 1.6 to 94 kb. Nonetheless the basic clinical features of the families were indifferent. Deletion of promoter region of COL4A5 In family TR, which might affected another gene, was associated with generalized leiomyomatosis in AS patients - a rare syndromal phenomenon.
G Dechennes - One of the best experts on this subject based on the ideXlab platform.
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DELETIONS OF Collagen Type 4 ALPHA 5 GENE IN 4 FAMILIES WITH ALPORT'S SYNDROME
Pediatric Research, 1992Co-Authors: M Sanak, K. Tryggvason, R M Rad, G Dechennes, M C Gubler, S Heuertz, J P Grunfeld, M Broys, Jing Zhou, M C Hors-caylaAbstract:Alport's syndrome (AS) is manifested by progressive renal disease with typical basement membranes morphology and frequent association wtth ocular signs and deafness. This hereditary disease has been assigned to the Collagen Type IV alpha 5 gene (COL4A5) located on X chromosome and several mutations have been reported. We present 4 families in which gross deletion of COL4A5 were found as a cause of AS. Using standard Southern blot technique and cDNA probes of COL4A5 absence of restriction fragments or presence of ‘junction” fragments proved a mechanism of the mutation. The span of deletion varied at least from 1.6 to 94 kb. Nonetheless the basic clinical features of the families were indifferent. Deletion of promoter region of COL4A5 In family TR, which might affected another gene, was associated with generalized leiomyomatosis in AS patients - a rare syndromal phenomenon.