M D Amaral
Overview
Explore the profile of M D Amaral including associated specialties, affiliations and a list of published articles.
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Articles
14
Citations
279
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Recent Articles
1.
Hiatt S, Amaral M, Bowling K, Finnila C, Thompson M, Gray D, et al.
Clin Genet
. 2018 Apr;
94(1):174-178.
PMID: 29652076
As genomic sequencing expands, so does our knowledge of the link between genetic variation and disease. Deeper catalogs of variant frequencies improve identification of benign variants, while sequencing affected individuals...
2.
Felicio V, Ramalho A, Igreja S, Amaral M
Clin Genet
. 2016 May;
91(3):476-481.
PMID: 27174726
Even with advent of next generation sequencing complete sequencing of large disease-associated genes and intronic regions is economically not feasible. This is the case of cystic fibrosis transmembrane conductance regulator...
3.
Amaral M
J Intern Med
. 2014 Oct;
277(2):155-166.
PMID: 25266997
Cystic fibrosis (CF) is the most common genetic life-shortening condition in Caucasians. Despite being a multi-organ disease, CF is classically diagnosed by symptoms of acute/chronic respiratory disease, with persistent pulmonary...
4.
Schmidt A, Hughes L, Cai Z, Mendes F, Li H, Sheppard D, et al.
Br J Pharmacol
. 2008 Jan;
153(6):1311-23.
PMID: 18223673
Background And Purpose: Cystic fibrosis (CF) is caused by dysfunction of the cystic fibrosis transmembrane conductance regulator (CFTR) Cl(-) channel. In the search for new CF therapies, small molecules have...
5.
Mauricio A, Penque D, Amaral M, Ferreira K
Acta Med Port
. 2005 Oct;
17(6):427-34.
PMID: 16197854
Tall columnar epithelial (TCE) cells can be obtained by a non-invasive procedure through brushing the inferior turbinate and the adjacent lateral nasal wall. Here, we present results from the functional...
6.
Laner A, Goussard S, Ramalho A, Schwarz T, Amaral M, Courvalin P, et al.
Gene Ther
. 2005 Jun;
12(21):1559-72.
PMID: 15973438
Efficient transfer of chromosome-based vectors into mammalian cells is difficult, mostly due to their large size. Using a genetically engineered invasive Escherichia coli vector, alpha satellite DNA cloned in P1-based...
7.
Ramalho A, Beck S, Penque D, Gonska T, Seydewitz H, Mall M, et al.
J Med Genet
. 2003 Jul;
40(7):e88.
PMID: 12843337
No abstract available.
8.
Olsen M, Schade S, Lyons S, Amaral M, Sontheimer H
J Neurosci
. 2003 Jul;
23(13):5572-82.
PMID: 12843258
Voltage-gated chloride channels have recently been implicated as being important for cell proliferation and invasive cell migration of primary brain tumors cells. In the present study we provide several lines...
9.
Amaral M, Pacheco P, Beck S, Farinha C, Penque D, Nogueira P, et al.
J Med Genet
. 2001 Dec;
38(11):777-83.
PMID: 11732487
No abstract available.
10.
Amaral M, Chen L, Chattopadhyay D, Smith C, Meehan E
Acta Crystallogr D Biol Crystallogr
. 2001 Feb;
57(Pt 2):304-5.
PMID: 11173488
Wheat-germ protein L-isoaspartyl O-methyltransferase (WPIMT) can initiate the conversion of L-isoaspartyl residues in a protein or peptide, which accumulate during the aging process in wheat-germ seeds, to normal L-aspartyl groups....