Zobrazeno 1 - 10
of 122
pro vyhledávání: '"lipodystrophies"'
Publikováno v:
Сахарный диабет, Vol 27, Iss 3, Pp 287-294 (2024)
Lipodystrophy syndromes are a heterogeneous group of extremely rare, inherited or acquired disorders that are characterized by total or partial fat loss or its improper redistribution. The prevalence of lipodystrophies is estimated to be 1:1,000,000
Externí odkaz:
https://doaj.org/article/a3442905e229431e924cffe49492a49f
Autor:
Rachna Pasi, Kumar Satish Ravi
Publikováno v:
Journal of Family Medicine and Primary Care, Vol 11, Iss 1, Pp 27-31 (2022)
Type 1 Diabetes Mellitus is the most common endocrinological abnormality found in children. The incidence of T1DM has steadily increased in nearly all parts of the world. Both genetic susceptibility and environmental factors contribute to the pathoge
Externí odkaz:
https://doaj.org/article/87576a06c252409bab49d2c6ef6f2671
Autor:
Julliane Tamara Araújo de Melo Campos, Matheus Sena de Oliveira, Luisa Pessoa Soares, Katarina Azevedo de Medeiros, Leonardo René dos Santos Campos, Josivan Gomes Lima
Publikováno v:
Genetics and Molecular Biology, Vol 45, Iss 3 suppl 1 (2022)
Abstract Classical and progeroid congenital lipodystrophies are a collection of rare diseases displaying a large genetic heterogeneity. They occur due to pathogenic variants in genes associated with adipogenesis, DNA repair pathways, and genome stabi
Externí odkaz:
https://doaj.org/article/6ec31597d1d24563b1c980e0e7e68e37
Akademický článek
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Publikováno v:
In Médecine des maladies métaboliques March 2021 15(2):187-193
Autor:
Bismuth, Elise, Vantyghem, Marie-Christine, Beltrand, Jacques, Janmaat, Sonja, Nobécourt, Estelle, Vigouroux, Corinne
Publikováno v:
In Médecine des maladies métaboliques March 2021 15(2):149-156
Autor:
Mosbah, Héléna, Vantyghem, Marie-Christine, Vatier, Camille, Janmaat, Sonja, Donadille, Bruno, Vigouroux, Corinne, Jéru, Isabelle *
Publikováno v:
In Médecine des maladies métaboliques March 2021 15(2):171-178
Publikováno v:
In Médecine des maladies métaboliques March 2021 15(2):157-170
Publikováno v:
In Médecine des maladies métaboliques March 2021 15(2):142-148
Autor:
Patrick J. Heizer, Ye Yang, Yiping Tu, Paul H. Kim, Natalie Y. Chen, Yan Hu, Yuko Yoshinaga, Pieter J. de Jong, Laurent Vergnes, Jazmin E. Morales, Robert L. Li, Nicholas Jackson, Karen Reue, Stephen G. Young, Loren G. Fong
Publikováno v:
Journal of Lipid Research, Vol 61, Iss 3, Pp 413-421 (2020)
Zinc metallopeptidase STE24 (ZMPSTE24) is essential for the conversion of farnesyl–prelamin A to mature lamin A, a key component of the nuclear lamina. In the absence of ZMPSTE24, farnesyl–prelamin A accumulates in the nucleus and exerts toxicity
Externí odkaz:
https://doaj.org/article/13a63de43af34811a3f699cc04d6c57d