Zobrazeno 61 - 70
of 212
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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
Publikováno v:
New England Journal of Medicine. 351:1146-1148
Autor:
Glen E. Morris, Wendy C. King, Linda Signore, Patricia E. McAndrew, Ralph E. Stephens, Sandra Benson, Zarife Sahenk, John T. Kissel, Haikady N. Nagaraja, Arthur H.M. Burghes, Jerry R. Mendell, Anthony A. Amato, Laura E. Lantry, Robert R. Rice, Thomas W. Prior
Publikováno v:
New England Journal of Medicine. 333:832-838
Myoblast transfer has been proposed as a technique to replace dystrophin, the skeletal-muscle protein that is deficient in Duchenne's muscular dystrophy. Donor myoblasts injected into muscles of affected patients can fuse with host muscle fibers, thu
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:
Seung Taek Lee, Robert D. Nicholls, Maria A. Musarella, Sarah Bundey, Renata Laxova, Richard A. Spritz
Publikováno v:
New England Journal of Medicine. 330:529-534
Type II (tyrosinase-positive) oculocutaneous albinism is an autosomal recessive disorder that has recently been mapped to chromosome segment 15q11-q13. The frequency of this disorder is greatly increased in patients with Prader-Willi or Angelman synd
Autor:
Michael J. Thirman, Heidi J. Gill, Robert C. Burnett, David Mbangkollo, Norah R. McCabe, Hirofumi Kobayashi, Sheryl Ziemin-van der Poel, Yasuhiko Kaneko, Rodman Morgan, Avery A. Sandberg, R.S.K. Chaganti, Richard A. Larson, Michelle M. Le Beau, Manuel O. Diaz, Janet D. Rowley
Publikováno v:
New England Journal of Medicine. 329:909-914
Translocations involving chromosome band 11q23 are very frequent in both acute lymphoblastic and acute myeloid leukemias and are the most common genetic alteration in infants with leukemia. In all age groups and all phenotypes of leukemia, an 11q23 t
Publikováno v:
New England Journal of Medicine. 329:241-245
Myophosphorylase deficiency (McArdle's disease) is one of the most common causes of exercise intolerance, muscle cramps, and recurrent myoglobinuria. The myophosphorylase gene has been sequenced and assigned to chromosome 11, but the molecular basis
Autor:
Eric M. Shooter, D. A. Kulpa, James R. Lupski, A. A. Welcher, Ueli Suter, G. J. Snipes, Benjamin B. Roa, Pragna Patel, Carol Wise, C. A. Garcia, J. Mueller
Publikováno v:
New England Journal of Medicine. 329:96-101
Charcot-Marie-Tooth disease (CMT) is the most common inherited peripheral neuropathy. CMT type 1A is associated with a 1.5-megabase DNA duplication in region p11.2-p12 of chromosome 17 in most patients. An increased dosage of a gene within the duplic