H C Dietz
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Explore the profile of H C Dietz including associated specialties, affiliations and a list of published articles.
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69
Citations
4686
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Recent Articles
11.
Zhang J, Clatterbuck R, Rigamonti D, Chang D, Dietz H
Hum Mol Genet
. 2001 Dec;
10(25):2953-60.
PMID: 11741838
Cerebral cavernous malformation (CCM) is a common autosomal dominant disorder characterized by venous sinusoids that predispose to intracranial hemorrhage. CCM is genetically heterogeneous, with loci at 7q, 7p and 3q....
12.
Mendell J, Dietz H
Cell
. 2001 Nov;
107(4):411-4.
PMID: 11719181
Mutations that cause disease commonly occur in the coding sequence and directly influence protein structure and function. However, many diseases result from mutations that influence various aspects of mRNA metabolism,...
13.
Guo D, Hasham S, Kuang S, Vaughan C, Boerwinkle E, Chen H, et al.
Circulation
. 2001 May;
103(20):2461-8.
PMID: 11369686
Background: Aneurysms and dissections affecting the ascending aorta are associated primarily with degeneration of the aortic media, called medial necrosis. Families identified with dominant inheritance of thoracic aortic aneurysms and...
14.
Noensie E, Dietz H
Nat Biotechnol
. 2001 May;
19(5):434-9.
PMID: 11329012
Premature termination codons (PTCs) have been shown to initiate degradation of mutant transcripts through the nonsense-mediated messenger RNA (mRNA) decay (NMD) pathway. We report a strategy, termed gene identification by...
15.
Judge D, Biery N, Dietz H
Am J Med Genet
. 2001 Feb;
99(1):39-47.
PMID: 11170092
Marfan syndrome (MFS) is an autosomal dominant disorder of connective tissue with marked interfamilial and intrafamilial variation in phenotype. The primary defect in affected patients resides in the gene for...
16.
Zhang J, Clatterbuck R, Rigamonti D, Dietz H
Genomics
. 2001 Feb;
70(3):392-5.
PMID: 11161791
Human KRIT1 (Krev interaction trapped 1), a defective gene product in cerebral cavernous malformation, was cloned from a HeLa cell cDNA library by virtue of its interaction with Krev/rap1A, a...
17.
Eldadah Z, Hamosh A, Biery N, Montgomery R, Duke M, Elkins R, et al.
Hum Mol Genet
. 2001 Jan;
10(2):163-9.
PMID: 11152664
Tetralogy of Fallot (ToF) is the most common form of complex congenital heart disease, occurring in approximately 1 in 3000 live births. Evaluation of candidate loci in a large kindred...
18.
Medghalchi S, Frischmeyer P, Mendell J, Kelly A, Lawler A, Dietz H
Hum Mol Genet
. 2001 Jan;
10(2):99-105.
PMID: 11152657
The ability to detect and degrade transcripts that lack full coding potential is ubiquitous but non-essential in lower eukaryotes, leaving in question the evolutionary basis for complete maintenance of this...
19.
Bunton T, Biery N, Myers L, Gayraud B, Ramirez F, Dietz H
Circ Res
. 2001 Jan;
88(1):37-43.
PMID: 11139471
Marfan syndrome is associated with early death due to aortic aneurysm. The condition is caused by mutations in the gene (FBN1) encoding fibrillin-1, a major constituent of extracellular microfibrils. Prior...
20.
Mendell J, Medghalchi S, Lake R, Noensie E, Dietz H
Mol Cell Biol
. 2000 Nov;
20(23):8944-57.
PMID: 11073994
Transcripts harboring premature signals for translation termination are recognized and rapidly degraded by eukaryotic cells through a pathway known as nonsense-mediated mRNA decay (NMD). In addition to protecting cells by...