Amaral MD - Search Results

1

Solubilizing mutations used to crystallize one CFTR domain attenuate the trafficking and channel defects caused by the major cystic fibrosis mutation.

Pissarra LS, Farinha CM, Xu Z, Schmidt A, Thibodeau PH, Cai Z, Thomas PJ, Sheppard DN, Amaral MD. Pissarra LS, et al. Among authors: amaral md. Chem Biol. 2008 Jan;15(1):62-9. doi: 10.1016/j.chembiol.2007.11.012. Chem Biol. 2008. PMID: 18215773

2

Complex cystic fibrosis allele R334W-R1158X results in reduced levels of correctly processed mRNA in a pancreatic sufficient patient.

Duarte A, Amaral M, Barreto C, Pacheco P, Lavinha J. Duarte A, et al. Hum Mutat. 1996;8(2):134-9. doi: 10.1002/(SICI)1098-1004(1996)8:2<134::AID-HUMU5>3.0.CO;2-B. Hum Mutat. 1996. PMID: 8844211

3

Cystic fibrosis patients with the 3272-26A-->G mutation have mild disease, leaky alternative mRNA splicing, and CFTR protein at the cell membrane.

Beck S, Penque D, Garcia S, Gomes A, Farinha C, Mata L, Gulbenkian S, Gil-Ferreira K, Duarte A, Pacheco P, Barreto C, Lopes B, Cavaco J, Lavinha J, Amaral MD. Beck S, et al. Among authors: amaral md. Hum Mutat. 1999;14(2):133-44. doi: 10.1002/(SICI)1098-1004(1999)14:2<133::AID-HUMU5>3.0.CO;2-T. Hum Mutat. 1999. PMID: 10425036

4

Cystic fibrosis F508del patients have apically localized CFTR in a reduced number of airway cells.

Penque D, Mendes F, Beck S, Farinha C, Pacheco P, Nogueira P, Lavinha J, Malhó R, Amaral MD. Penque D, et al. Among authors: amaral md. Lab Invest. 2000 Jun;80(6):857-68. doi: 10.1038/labinvest.3780090. Lab Invest. 2000. PMID: 10879737 Free article.

5

Cystic fibrosis patients with the 3272-26A>G splicing mutation have milder disease than F508del homozygotes: a large European study.

Amaral MD, Pacheco P, Beck S, Farinha CM, Penque D, Nogueira P, Barreto C, Lopes B, Casals T, Dapena J, Gartner S, Vásquez C, Pérez-Frías J, Olveira C, Cabanas R, Estivill X, Tzetis M, Kanavakis E, Doudounakis S, Dörk T, Tümmler B, Girodon-Boulandet E, Cazeneuve C, Goossens M, Blayau M, Verlingue C, Vieira I, Féréc C, Claustres M, des Georges M, Clavel C, Birembaut P, Hubert D, Bienvenu T, Adoun M, Chomel JC, De Boeck K, Cuppens H, Lavinha J. Amaral MD, et al. J Med Genet. 2001 Nov;38(11):777-83. doi: 10.1136/jmg.38.11.777. J Med Genet. 2001. PMID: 11732487 Free PMC article. No abstract available.

6

The human DnaJ homologue (Hdj)-1/heat-shock protein (Hsp) 40 co-chaperone is required for the in vivo stabilization of the cystic fibrosis transmembrane conductance regulator by Hsp70.

Farinha CM, Nogueira P, Mendes F, Penque D, Amaral MD. Farinha CM, et al. Among authors: amaral md. Biochem J. 2002 Sep 15;366(Pt 3):797-806. doi: 10.1042/BJ20011717. Biochem J. 2002. PMID: 12069690 Free PMC article.

7

Five percent of normal cystic fibrosis transmembrane conductance regulator mRNA ameliorates the severity of pulmonary disease in cystic fibrosis.

Ramalho AS, Beck S, Meyer M, Penque D, Cutting GR, Amaral MD. Ramalho AS, et al. Among authors: amaral md. Am J Respir Cell Mol Biol. 2002 Nov;27(5):619-27. doi: 10.1165/rcmb.2001-0004OC. Am J Respir Cell Mol Biol. 2002. PMID: 12397022

8

Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers.

Ramalho AS, Beck S, Penque D, Gonska T, Seydewitz HH, Mall M, Amaral MD. Ramalho AS, et al. Among authors: amaral md. J Med Genet. 2003 Jul;40(7):e88. doi: 10.1136/jmg.40.7.e88. J Med Genet. 2003. PMID: 12843337 Free PMC article. No abstract available.

9

Unusually common cystic fibrosis mutation in Portugal encodes a misprocessed protein.

Mendes F, Roxo Rosa M, Dragomir A, Farinha CM, Roomans GM, Amaral MD, Penque D. Mendes F, et al. Among authors: amaral md. Biochem Biophys Res Commun. 2003 Nov 21;311(3):665-71. doi: 10.1016/j.bbrc.2003.10.048. Biochem Biophys Res Commun. 2003. PMID: 14623323

10

CFTR localization in native airway cells and cell lines expressing wild-type or F508del-CFTR by a panel of different antibodies.

Carvalho-Oliveira I, Efthymiadou A, Malhó R, Nogueira P, Tzetis M, Kanavakis E, Amaral MD, Penque D. Carvalho-Oliveira I, et al. Among authors: amaral md. J Histochem Cytochem. 2004 Feb;52(2):193-203. doi: 10.1177/002215540405200207. J Histochem Cytochem. 2004. PMID: 14729871

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