The Experts below are selected from a list of 24 Experts worldwide ranked by ideXlab platform
Joseph F Maher - One of the best experts on this subject based on the ideXlab platform.
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de novo acta2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction
American Journal of Medical Genetics Part A, 2010Co-Authors: Dianna M Milewicz, Nadia Khan, John R Ostergaard, Leena Alakokko, Dorothy K Grange, Roberto Mendozalondono, Timothy J Bradley, Ann Haskins Olney, Lesley C Ades, Joseph F MaherAbstract:Smooth muscle cells (SMCs) contract to perform many physiological functions, including regulation of blood flow and pressure in arteries, contraction of the pupils, peristalsis of the gut, and voiding of the Bladder. SMC lineage in these organs is characterized by cellular expression of the SMC isoform of α-actin, encoded by the ACTA2 gene. We report here on a unique and de novo mutation in ACTA2, R179H, that causes a syndrome characterized by dysfunction of SMCs throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, Hypotonic Bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension.
Dianna M Milewicz - One of the best experts on this subject based on the ideXlab platform.
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de novo acta2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction
American Journal of Medical Genetics Part A, 2010Co-Authors: Dianna M Milewicz, Nadia Khan, John R Ostergaard, Leena Alakokko, Dorothy K Grange, Roberto Mendozalondono, Timothy J Bradley, Ann Haskins Olney, Lesley C Ades, Joseph F MaherAbstract:Smooth muscle cells (SMCs) contract to perform many physiological functions, including regulation of blood flow and pressure in arteries, contraction of the pupils, peristalsis of the gut, and voiding of the Bladder. SMC lineage in these organs is characterized by cellular expression of the SMC isoform of α-actin, encoded by the ACTA2 gene. We report here on a unique and de novo mutation in ACTA2, R179H, that causes a syndrome characterized by dysfunction of SMCs throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, Hypotonic Bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension.
Nadia Khan - One of the best experts on this subject based on the ideXlab platform.
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de novo acta2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction
American Journal of Medical Genetics Part A, 2010Co-Authors: Dianna M Milewicz, Nadia Khan, John R Ostergaard, Leena Alakokko, Dorothy K Grange, Roberto Mendozalondono, Timothy J Bradley, Ann Haskins Olney, Lesley C Ades, Joseph F MaherAbstract:Smooth muscle cells (SMCs) contract to perform many physiological functions, including regulation of blood flow and pressure in arteries, contraction of the pupils, peristalsis of the gut, and voiding of the Bladder. SMC lineage in these organs is characterized by cellular expression of the SMC isoform of α-actin, encoded by the ACTA2 gene. We report here on a unique and de novo mutation in ACTA2, R179H, that causes a syndrome characterized by dysfunction of SMCs throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, Hypotonic Bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension.
Lesley C Ades - One of the best experts on this subject based on the ideXlab platform.
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de novo acta2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction
American Journal of Medical Genetics Part A, 2010Co-Authors: Dianna M Milewicz, Nadia Khan, John R Ostergaard, Leena Alakokko, Dorothy K Grange, Roberto Mendozalondono, Timothy J Bradley, Ann Haskins Olney, Lesley C Ades, Joseph F MaherAbstract:Smooth muscle cells (SMCs) contract to perform many physiological functions, including regulation of blood flow and pressure in arteries, contraction of the pupils, peristalsis of the gut, and voiding of the Bladder. SMC lineage in these organs is characterized by cellular expression of the SMC isoform of α-actin, encoded by the ACTA2 gene. We report here on a unique and de novo mutation in ACTA2, R179H, that causes a syndrome characterized by dysfunction of SMCs throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, Hypotonic Bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension.
Ann Haskins Olney - One of the best experts on this subject based on the ideXlab platform.
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de novo acta2 mutation causes a novel syndrome of multisystemic smooth muscle dysfunction
American Journal of Medical Genetics Part A, 2010Co-Authors: Dianna M Milewicz, Nadia Khan, John R Ostergaard, Leena Alakokko, Dorothy K Grange, Roberto Mendozalondono, Timothy J Bradley, Ann Haskins Olney, Lesley C Ades, Joseph F MaherAbstract:Smooth muscle cells (SMCs) contract to perform many physiological functions, including regulation of blood flow and pressure in arteries, contraction of the pupils, peristalsis of the gut, and voiding of the Bladder. SMC lineage in these organs is characterized by cellular expression of the SMC isoform of α-actin, encoded by the ACTA2 gene. We report here on a unique and de novo mutation in ACTA2, R179H, that causes a syndrome characterized by dysfunction of SMCs throughout the body, leading to aortic and cerebrovascular disease, fixed dilated pupils, Hypotonic Bladder, malrotation, and hypoperistalsis of the gut and pulmonary hypertension.