Zobrazeno 1 - 10
of 174
pro vyhledávání: '"Marcella Attimonelli"'
Autor:
Fatima Maqoud, Nicola Zizzo, Marcella Attimonelli, Antonella Tinelli, Giuseppe Passantino, Marina Antonacci, Girolamo Ranieri, Domenico Tricarico
Publikováno v:
Frontiers in Pharmacology, Vol 14 (2023)
Background: ATP-sensitive-K+ channels (KATP) are involved in diseases, but their role in cancer is poorly described. Pituitary macroadenoma has been observed in Cantu’ syndrome (C.S.), which is associated with the gain-of-function mutations of the
Externí odkaz:
https://doaj.org/article/2d58660cc70b4bcba4f4417daf82deca
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 8, Iss 2, Pp n/a-n/a (2020)
Abstract Background Human mitochondrial DNA has an important role in the cellular energy production through oxidative phosphorylation. Therefore, this process may be the cause and have an effect on mitochondrial DNA mutability, functional alteration,
Externí odkaz:
https://doaj.org/article/08a63dce74514fd2942b35e96210b970
Autor:
David Meierhofer, Klaus Jung, Marcella Attimonelli, Bernd Timmermann, Sonia L. Villegas, Ergin Kilic, Anja Rabien, Jonas Busch, Rosanna Clima, Yi Xiao
MaxQuant output file, protein ratios, and pathway enrichment analysis (GSEA) of all up-regulated and down-regulated pathways between chRCC and kidney tissues.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::36ba2a11e0b26dfb917fc50ffa0fe4eb
https://doi.org/10.1158/0008-5472.22425720.v1
https://doi.org/10.1158/0008-5472.22425720.v1
Autor:
David Meierhofer, Klaus Jung, Marcella Attimonelli, Bernd Timmermann, Sonia L. Villegas, Ergin Kilic, Anja Rabien, Jonas Busch, Rosanna Clima, Yi Xiao
Supplementary file captions
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::64f5b64fca3ee08d7c9f42c3707b4686
https://doi.org/10.1158/0008-5472.22425726
https://doi.org/10.1158/0008-5472.22425726
Autor:
David Meierhofer, Klaus Jung, Marcella Attimonelli, Bernd Timmermann, Sonia L. Villegas, Ergin Kilic, Anja Rabien, Jonas Busch, Rosanna Clima, Yi Xiao
Chromophobe renal cell carcinoma (chRCC) and renal oncocytoma are closely related, rare kidney tumors. Mutations in complex I (CI)-encoding genes play an important role in dysfunction of the oxidative phosphorylation (OXPHOS) system in renal oncocyto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f103a16b6db38287399d6fc45d6c6ec
https://doi.org/10.1158/0008-5472.c.6512124
https://doi.org/10.1158/0008-5472.c.6512124
Autor:
David Meierhofer, Klaus Jung, Marcella Attimonelli, Bernd Timmermann, Sonia L. Villegas, Ergin Kilic, Anja Rabien, Jonas Busch, Rosanna Clima, Yi Xiao
Correlation between mtDNA content, ETC protein and transcript levels, and GSH level in 786-O and HK2 cells
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::35f77b9baa78c477c8f7cd2c0f26beea
https://doi.org/10.1158/0008-5472.22425729
https://doi.org/10.1158/0008-5472.22425729
Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation
Autor:
Xiaowu Gai, Marie T. Lott, Amel Karaa, Rong Mao, Shiping Zhang, Daniel E. Pineda-Alvarez, Marni J. Falk, Daria Merkurjev, Lishuang Shen, Ornella Vitale, Neal Sondheimer, Matthew C. Dulik, Renkui Bai, Christine M. Stanley, Elizabeth M. McCormick, Douglas C. Wallace, Marcella Attimonelli, Vincent Procaccio, Stacey Wong, Larry N. Singh, Anshu Bhardwaj
Publikováno v:
Hum Mutat
Mitochondrial DNA (mtDNA) variant pathogenicity interpretation has special considerations given unique features of the mtDNA genome, including maternal inheritance, variant heteroplasmy, threshold effect, absence of splicing, and contextual effects o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fbbe7a60b1922d0af610b34f718839a1
https://doi.org/10.1002/humu.24107
https://doi.org/10.1002/humu.24107
Autor:
Marcella Attimonelli, Graziano Pesole, Ernesto Picardi, Angelo Sante Varvara, Maria Angela Diroma
Publikováno v:
Genes, Vol 11, Iss 534, p 534 (2020)
Genes
Volume 11
Issue 5
Genes
Volume 11
Issue 5
Mitochondria host multiple copies of their own small circular genome that has been extensively studied to trace the evolution of the modern eukaryotic cell and discover important mutations linked to inherited diseases. Whole genome and exome sequenci
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7f6b72871679265d1ae4fa7cd17a46ca
https://www.mdpi.com/2073-4425/11/5/534
https://www.mdpi.com/2073-4425/11/5/534
Autor:
Bernd Timmermann, David Meierhofer, Sonia L. Villegas, Yi Xiao, Klaus Jung, Anja Rabien, Rosanna Clima, Ergin Kilic, Jonas Busch, Marcella Attimonelli
Publikováno v:
Cancer research : an official organ of the American Association for Cancer Research
Chromophobe renal cell carcinoma (chRCC) and renal oncocytoma are closely related, rare kidney tumors. Mutations in complex I (CI)-encoding genes play an important role in dysfunction of the oxidative phosphorylation (OXPHOS) system in renal oncocyto
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::937f1f9839b39f163893dee8134eac81
https://pubmed.ncbi.nlm.nih.gov/32694149
https://pubmed.ncbi.nlm.nih.gov/32694149
Autor:
Marcella Attimonelli, Zhang Shiping, Ornella Vitale, Roberto Preste, Douglas C. Wallace, Vincent Procaccio, Marie T. Lott
The topic of this chapter owes a lot to the work of Sanger first, and Maxam and Gilbert, thereafter. They designed and implemented the techniques that allow us to produce the sequence of nucleotides that make up any piece of DNA. With the advent of s
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::14d679fa1463259d98a1700f3cc917e4
https://doi.org/10.1016/b978-0-12-819656-4.00012-7
https://doi.org/10.1016/b978-0-12-819656-4.00012-7