Zobrazeno 1 - 10
of 5 198
pro vyhledávání: '"785"'
Autor:
Seongwon Kim, Joshua M. Gorham, Christopher N. Toepfer, David A. Conner, Jon A. L. Willcox, Lauren K. Wasson, Christine E. Seidman, Megan Jang, Daniel M. DeLaughter, Tarsha Ward, Steven R. DePalma, Alexandre C. Pereira, Angela Tai, Manuel Schmid, Sarah U. Morton, Meraj Neyazi, Arun Sharma, Yuri Kim, Benoit G. Bruneau, Jon G. Seidman, Radhika Agarwal
Publikováno v:
Circulation Research. 125
The discovery of damaging gene mutations in congenital heart disease (CHD) patients enables identification of regulators of cardiac development. Exome sequencing identified de novo heterozygous loss-of-function (LoF) and missense variants in GATA6 am
Autor:
Catherine Leiendecker-Foster, Honggui Li, Susie A. LaFreniere, Richard D. Press, Ronald T. Acton, James C. Barton, John H. Eckfeldt
Publikováno v:
American Journal of Hematology. 84:710-714
We sought to identify mutations that could explain iron phenotype heterogeneity in adults with previous HFE genotyping to detect C282Y and H63D. HEIRS Study participants genotyped for C282Y and H63D were designated as high transferrin saturation (TS)
Autor:
T. Lewis
Publikováno v:
The Journal of Agricultural Science. 128:123-126
Autor:
Ronald T. Acton, James C. Barton, Catherine Leiendecker-Foster, John H. Eckfeldt, Honggui Li, Susie A. Delrio-Lafreniere
Island and colleagues recently described a 37-year old French man with HFE p.C282Y homozygosity, severe iron overload (IO), and heterozygosity for the novel hepcidin ( HAMP ) promoter mutation nc.-153C>T.[1][1] In vitro nc.-153C>T decreased transcrip
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9648ee7b80ef1df5f4285de754cfc003
https://europepmc.org/articles/PMC2754967/
https://europepmc.org/articles/PMC2754967/
Autor:
Thomas D. Gilmore, Melanie Herscovitch
Publikováno v:
Oncogene. 25(51)
Nuclear factor kappa B (NF-kappaB) transcription factors regulate several important physiological processes, including inflammation and immune responses, cell growth, apoptosis, and the expression of certain viral genes. Therefore, the NF-kappaB sign
Autor:
Ding, Qi1, Shi, Ying2, Fan, Bo1, Fan, Zhijiang1, Ding, Li1, Li, Feng1, Tu, Wenjian1, Jin, Xiaohua1, Wang, Jing1 csyyjingwang@gmail.com
Publikováno v:
PLoS ONE. Feb2013, Vol. 8 Issue 2, p1-1. 1p.
Autor:
Véronique David, Yves Deugnier, Olivier Loréal, Annick Mosser, Pierre Brissot, Marie-Laure Island, Anne-Marie Jouanolle
Publikováno v:
Haematologica. 94:1465-1466
We thank Barton and collaborators who gave their attention to our recent publication in Haematologica[1][1] on the –nc.153 C>T mutation found at heterozygous state in the hepcidin promoter of a patient homozygous for the C282Y mutation in HFE with
Autor:
Bianca Lisboa, Ignacio López, Mónica Marín, Renata A. Coudry, Dirce Maria Carraro, Ligia Petrolini de Oliveira
Publikováno v:
Cancer Research. 73:785-785
Background & Aim: The tumor suppressor TP53 gene is one of the most frequently mutated in different types of human cancer. Particularly in colorectal cancer (CRC), it is believed that TP53 mutations play a role in the adenoma-carcinoma transition of
Publikováno v:
Blood. 120:3789-3789
Abstract 3789 Introduction: Recently, genes affecting the splicing machinery have been found to be frequently mutated in MDS patients. The U2AF1 gene codes for one of these splicing components, showing two distinct mutational hot spots at amino acids
Autor:
Roberto Calcedo, James M. Wilson, Deirdre McMenamin, Julie Johnston, Peter Bell, Julio Sanmiguel, Maria P. Limberis
Publikováno v:
Molecular Therapy. 13:S304
Top of pageAbstract Airway|[ndash]|directed gene transfer has emerged as a promising approach for the treatment of cystic fibrosis and |[alpha]|-1-antitrypsin deficiency (AAT). It will be important to re-administer the vector for treatment of these c