Zobrazeno 1 - 10
of 16
pro vyhledávání: '"Karen G. Scheps"'
Autor:
Mauricio Gomes Pio, Ezequiela Adrover, Mirta B. Miras, Gabriela Sobrero, Maricel F. Molina, Karen G. Scheps, Carina M. Rivolta, Héctor M. Targovnik
Publikováno v:
Molecular and Cellular Endocrinology. 572:111948
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::446b8d8194cf51f5e9c82c49ade5a682
https://doi.org/10.1016/j.mce.2023.111948
https://doi.org/10.1016/j.mce.2023.111948
Autor:
Karen G. Scheps, Juan Pablo Salim, Viviana Varela, Nora Basack, Eliana García, Renée Crisp, Gustavo Chiappe, Silvia De Paula, Nora Watman, Ana Zerdiew, Héctor M. Targovnik
Publikováno v:
Human Gene. 33:201071
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::ab09b0dc1bcd1bcb2073860c98f7b0b1
https://doi.org/10.1016/j.humgen.2022.201071
https://doi.org/10.1016/j.humgen.2022.201071
Autor:
Maricel F. Molina, Sofia Siffo, Ezequiela Adrover, Héctor M. Targovnik, Miguel Martin Abelleyro, Karen G. Scheps, Mauricio Gomes Pio, Carina M. Rivolta
Publikováno v:
Molecular and cellular endocrinology. 534
Thyroglobulin (TG) is a large glycosylated protein of 2767 amino acids, secreted by the thyrocytes into the follicular lumen. It plays an essential role in the process of thyroid hormone synthesis. TG gene variants lead to permanent congenital hypoth
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34fdac2a53fa708c79cc8ee745dd9af7
https://pubmed.ncbi.nlm.nih.gov/34119605
https://pubmed.ncbi.nlm.nih.gov/34119605
Autor:
Karen G. Scheps, Viviana Varela
Publikováno v:
Medicina (Buenos Aires), Vol 76, Iss 6, Pp 383-389 (2016)
Different hemoglobin isoforms are expressed during the embryonic, fetal and postnatal stages. They are formed by combination of polypeptide chains synthesized from the α- and β-globin gene clusters. Based on the fact that the presence of high hemog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::836dbad2c725a92218a261cdf8004139
http://www.medicinabuenosaires.com/PMID/27959850.pdf
http://www.medicinabuenosaires.com/PMID/27959850.pdf
Primary congenital hypothyroidism (CH) is the most commonendocrine disease in children and one of the most common preventablecauses of both cognitive and motor deficits. CH is a heterogeneous groupof thyroid disorders in which inadequate production o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::44ea979fff21b8d5113108541ace476f
https://www.sciencedirect.com/science/article/pii/S0303720719303405
https://www.sciencedirect.com/science/article/pii/S0303720719303405
Autor:
Marcia Anahí Hasenahuer, Karen G. Scheps, María Elisa Fornasari, Héctor M. Targovnik, Gustavo Parisi
Massive parallel sequencing technologies are facilitating the faster identification of sequence variants with the consequent capability of untangling the molecular bases of many human genetic syndromes. However, it is not always easy to understand th
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::374c8461cb4b86d1b57bcb2b80ce8fbe
Wiley Online Library
Wiley Online Library
Publikováno v:
Hemoglobin. 42(5-6)
Hemoglobin (Hb) synthesis is a complex, well-coordinated process that requires molecular chaperones. These intervene in different steps: regulating epigenetic mechanisms necessary for the adequate expression of the α- and β-globin clusters, binding
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9a4aceba57d1a29afdec76f43474a2c8
https://pubmed.ncbi.nlm.nih.gov/30558442
https://pubmed.ncbi.nlm.nih.gov/30558442
Autor:
Peter Arvan, Karen G. Scheps, Héctor M. Targovnik, Cintia E. Citterio, Osvaldo Rey, Sofia Siffo, Christian M. Moya, Maricel F. Molina, Carina M. Rivolta, Mauricio Gomes Pio
Publikováno v:
Molecular and Cellular Endocrinology. 505:110719
Thyroglobulin (TG), a large glycosylated protein secreted by thyrocytes into the thyroid follicular lumen, plays an essential role in thyroid hormone biosynthesis. Rattus norvegicus TG (rTG) is encoded by a large single copy gene, 186-kb long, locate
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6beb7c449d3b49ad8cddb29df2961625
https://doi.org/10.1016/j.mce.2020.110719
https://doi.org/10.1016/j.mce.2020.110719
Autor:
Renée Crisp, Héctor M. Targovnik, Karen G. Scheps, María Silvina Fornasari, Viviana Varela, Marcia Anahí Hasenahuer, Graciela Elena, Ernesto Samuel Veber, Eliana García, Gustavo Parisi
Publikováno v:
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Hemoglobinopathies are the most common autosomal recessive disorders and are mostly inherited in a recessive manner. However, certain mutations can affect the globin chain stability, leading to dominant forms of thalassemia. The aim of this work was
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4f78e3a4828c0b45273079870fdd87f0
Wiley Online Library
Wiley Online Library
Autor:
Karen G Scheps, Liliana Francipane, Abigail Nash, Gloria E Cerrone, Silvia B Copelli, Viviana Varela
Publikováno v:
Medicina (Buenos Aires), Vol 75, Iss 2, Pp 81-86 (2015)
La α-talasemia, es uno de los desórdenes hereditarios más frecuentes mundialmente. Al presente, el diagnóstico molecular es la única herramienta que permite el diagnóstico certero. El propósito de este trabajo fue caracterizar las bases molecu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doajarticles::9d94bf1c56f50ec06ed685da04884142
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S0025-76802015000200002&lng=en&tlng=en
http://www.scielo.org.ar/scielo.php?script=sci_arttext&pid=S0025-76802015000200002&lng=en&tlng=en