Amaral MD - Search Results

1

Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Sosnay PR, Siklosi KR, Van Goor F, Kaniecki K, Yu H, Sharma N, Ramalho AS, Amaral MD, Dorfman R, Zielenski J, Masica DL, Karchin R, Millen L, Thomas PJ, Patrinos GP, Corey M, Lewis MH, Rommens JM, Castellani C, Penland CM, Cutting GR. Sosnay PR, et al. Among authors: amaral md. Nat Genet. 2013 Oct;45(10):1160-7. doi: 10.1038/ng.2745. Epub 2013 Aug 25. Nat Genet. 2013. PMID: 23974870 Free PMC article.

2

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

3

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.

4

Methods for RNA extraction, cDNA preparation and analysis of CFTR transcripts.

Ramalho AS, Beck S, Farinha CM, Clarke LA, Heda GD, Steiner B, Sanz J, Gallati S, Amaral MD, Harris A, Tzetis M. Ramalho AS, et al. Among authors: amaral md. J Cyst Fibros. 2004 Aug;3 Suppl 2:11-5. doi: 10.1016/j.jcf.2004.05.004. J Cyst Fibros. 2004. PMID: 15463918 Free article. Review.

5

Quantitative methods for the analysis of CFTR transcripts/splicing variants.

Amaral MD, Clarke LA, Ramalho AS, Beck S, Broackes-Carter F, Rowntree R, Mouchel N, Williams SH, Harris A, Tzetis M, Steiner B, Sanz J, Gallati S, Nissim-Rafinifa M, Kerem B, Hefferon T, Cutting GR, Goina E, Pagani F. Amaral MD, et al. J Cyst Fibros. 2004 Aug;3 Suppl 2:17-23. doi: 10.1016/j.jcf.2004.05.047. J Cyst Fibros. 2004. PMID: 15463919 Free article. Review.

6

CFTR Cl- channel function in native human colon correlates with the genotype and phenotype in cystic fibrosis.

Hirtz S, Gonska T, Seydewitz HH, Thomas J, Greiner P, Kuehr J, Brandis M, Eichler I, Rocha H, Lopes AI, Barreto C, Ramalho A, Amaral MD, Kunzelmann K, Mall M. Hirtz S, et al. Among authors: amaral md. Gastroenterology. 2004 Oct;127(4):1085-95. doi: 10.1053/j.gastro.2004.07.006. Gastroenterology. 2004. PMID: 15480987

7

Characterization of novel airway submucosal gland cell models for cystic fibrosis studies.

da Paula AC, Ramalho AS, Farinha CM, Cheung J, Maurisse R, Gruenert DC, Ousingsawat J, Kunzelmann K, Amaral MD. da Paula AC, et al. Among authors: amaral md. Cell Physiol Biochem. 2005;15(6):251-62. doi: 10.1159/000087235. Cell Physiol Biochem. 2005. PMID: 16037690 Free article.

8

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

9

Deletion of CFTR translation start site reveals functional isoforms of the protein in CF patients.

Ramalho AS, Lewandowska MA, Farinha CM, Mendes F, Gonçalves J, Barreto C, Harris A, Amaral MD. Ramalho AS, et al. Among authors: amaral md. Cell Physiol Biochem. 2009;24(5-6):335-46. doi: 10.1159/000257426. Epub 2009 Nov 4. Cell Physiol Biochem. 2009. PMID: 19910674 Free PMC article.

10

Escherichia coli-cloned CFTR loci relevant for human artificial chromosome therapy.

Rocchi L, Braz C, Cattani S, Ramalho A, Christan S, Edlinger M, Ascenzioni F, Laner A, Kraner S, Amaral M, Schindelhauer D. Rocchi L, et al. Hum Gene Ther. 2010 Sep;21(9):1077-92. doi: 10.1089/hum.2009.225. Hum Gene Ther. 2010. PMID: 20384480

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