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Autor:
Annette Grüters, Aubène Lèger, Theo J. Visser, Mariella D'Alessandro, Hans van Toor, Graziella Pinto, David Goudie, Michel Polak, Willem Klootwijk, José Moreno
Publikováno v:
New England Journal of Medicine, 358(17), 1811-1818. Massachussetts Medical Society
DEHAL1 has been identified as the gene encoding iodotyrosine deiodinase in the thyroid, where it controls the reuse of iodide for thyroid hormone synthesis. We screened patients with hypothyroidism who had features suggestive of an iodotyrosine deiod
Autor:
Anne Moscona
Publikováno v:
New England Journal of Medicine. 353:2633-2636
The neuraminidase inhibitors provide valuable defenses against pandemic and seasonal influenza. Dr. Anne Moscona writes that misuse of oseltamivir could rob us of the advantages that neuraminidase inhibitors provide, by favoring the emergence of osel
Autor:
Mitsuhiro Kamisago, Sapna D. Sharma, Steven R. DePalma, Scott Solomon, Pankaj Sharma, Barbara McDonough, Leslie Smoot, Mary P. Mullen, Paul K. Woolf, E. Douglas Wigle, J.G. Seidman, John Jarcho, Lawrence R. Shapiro, Christine E. Seidman
Publikováno v:
New England Journal of Medicine. 343:1688-1696
The molecular basis of idiopathic dilated cardiomyopathy, a primary myocardial disorder that results in reduced contractile function, is largely unknown. Some cases of familial dilated cardiomyopathy are caused by mutations in cardiac cytoskeletal pr
Autor:
Matthew C. Cayouette, Patricia Thompson, Lucy E. Side, Kevin Shannon, Edward R. Conner, Michael C. Luce, Brigit R. Taylor
Publikováno v:
New England Journal of Medicine. 336:1713-1720
The risk of malignant myeloid disorders in young children with neurofibromatosis type 1 is 200 to 500 times the normal risk. The gene for neurofibromatosis type 1 (NF1) encodes neurofibromin, a protein that negatively regulates signals transduced by
Autor:
Stanley R. Hamilton, Linda M. Hylind, Gloria M. Petersen, Francis M. Giardiello, Rodger D. Parker, Judith A. Bacon, Jill D. Brensinger, Michael C. Luce, Susan V. Booker
Publikováno v:
New England Journal of Medicine. 336:823-827
The use of commercially available tests for genes linked to familial cancer has aroused concern about the impact of these tests on patients. Familial adenomatous polyposis is an autosomal dominant disease caused by a germ-line mutation of the adenoma
Autor:
David S. Latchman
Publikováno v:
New England Journal of Medicine. 334:28-33
Correct regulation of gene expression, so that specific proteins are made by the appropriate organs at the appropriate times or in response to specific signals, is essential both to normal development and to the correct functioning of the adult organ
Autor:
Djj Halley, Amw vandenOuweland, Hj Veeze, Se Overbeek, Jc Dejongste, W. Bakker, Kh Gan, Hans Scheffer, A Vanderhout, Hgm Heijerman
Publikováno v:
New England Journal of Medicine. 333:95-99
Cystic fibrosis is the most common lethal autosomal recessive disorder among whites. Among Dutch patients with cystic fibrosis, delta F508 is the most common mutation and A455E the second most common mutation of the cystic fibrosis transmembrane cond
Autor:
Francis M. Giardiello, G. Johan A. Offerhaus, Anne C. Tersmette, Steven M. Powell, Ramon Parsons, Zane Cohen, Anne J. Krush, Fowzia Taqi, Kenneth W. Kinzler, Bert Vogelstein, Nickolas Papadopoulos, Gloria M. Petersen, Bernard Têtu, Jin Jen, Patricia A. Wood, Theresa Berk, Susan V. Booker, Bo Liu, Stanley R. Hamilton, Peter C. Burger
Publikováno v:
New England Journal of Medicine. 332:839-847
Turcot's syndrome is characterized clinically by the concurrence of a primary brain tumor and multiple colorectal adenomas. We attempted to define the syndrome at the molecular level.Fourteen families with Turcot's syndrome identified in two registri
Autor:
W. Edward Highsmith, Lauranell H. Burch, Michael R. Knowles, Lawrence M. Silverman, Lynne M. Quittell, Alexander Spock, Kenneth J. Friedman, John C. Olsen, Thomas E. Boat, Jack D. Gorvoy, Zhaoqing Zhou, Richard C. Boucher
Publikováno v:
New England Journal of Medicine. 331:974-980
Many patients with chronic pulmonary disease similar to that seen in cystic fibrosis have normal (or nondiagnostic) sweat chloride values. It has been difficult to make the diagnosis of cystic fibrosis in these patients because no associated mutation
Autor:
Laura Kasch, Garry R. Cutting, Stylianos E. Antonarakis, Haig H. Kazazian, Lap Chee Tsui, Beryl J. Rosenstein
Publikováno v:
New England Journal of Medicine. 323:1685-1689
CYSTIC fibrosis is the most common lethal inherited disorder in the white population. It is manifested by viscous secretions in the lungs and pancreas and abnormal electrolyte composition of sweat.1 Epithelial cells from patients with cystic fibrosis