Zobrazeno 1 - 10
of 161
pro vyhledávání: '"ASSOCIATED PHENOTYPES"'
Autor:
Onsurang Wattanathamsan, Paninee Chetprayoon, Naphat Chantaravisoot, Piriya Wongkongkathep, Pithi Chanvorachote, Varisa Pongrakhananon
Publikováno v:
Cancer Medicine, Vol 10, Iss 24, Pp 8961-8975 (2021)
Abstract Background Cellular senescence is an aging‐related process found in cancer cells that contributes to irreversible growth arrest and tumor aggressiveness. Recently, calmodulin‐regulated spectrin‐associated protein 3 (CAMSAP3), a minus
Externí odkaz:
https://doaj.org/article/5d84aa8c32d74277af18606390efc1db
Publikováno v:
Frontiers in Plant Science, Vol 12 (2021)
We review the coordinated production and integration of the RNA (ribosomal RNA, rRNA) and protein (ribosomal protein, RP) components of wheat cytoplasmic ribosomes in response to changes in genetic constitution, biotic and abiotic stresses. The compo
Externí odkaz:
https://doaj.org/article/62f778bbcfbb48a9a593b567a75836a0
Akademický článek
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Akademický článek
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Akademický článek
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Autor:
Giachetti, Sarah
SYNGAP1 (Synaptic Ras GTPase activating protein 1) haploinsufficiency-associated disorder or intellectual developmental disorder, autosomal dominant 5 (MRD5) is caused by autosomal dominant loss-of-function mutations in the SYNGAP1 gene. De novo SYNG
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______463::df6ba7e10065b2b4cd2144d176ece9a8
https://hdl.handle.net/1842/40697
https://hdl.handle.net/1842/40697
Autor:
Melisa Taboas, Liliana Dain, Lucía D. Espeche, Leandro Simonetti, Mónica C. Fabbro, Jorge E. Kolomenski, Alejandro D. Nadra, Carlos David Bruque, Marisol Delea
Publikováno v:
CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
NKX2-5 is a homeodomain transcription factor that plays a crucial role in heart development. It is the first gene where a single genetic variant (GV) was found to be associated with congenital heart diseases in humans. In this study, we carried out a
Publikováno v:
Biochimica et Biophysica Acta. Molecular Cell Research
Protein phosphatase 1 (PP1) catalyzes more than half of all phosphoserine/threonine dephosphorylation reactions in mammalian cells. In vivo PP1 does not exist as a free catalytic subunit but is always associated with at least one regulatory PP1-inter
Autor:
De Benedetto, Luca
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
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Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3056::e1333d468b69f1ae4b4af82c7b398278
Autor:
Jan M. van Deursen, Floris Foijer, Cynthia J. Sieben, Ines Sturmlechner, Cheng Zhang, Grace G. Nelson, Karthik B. Jeganathan, Willemijn H. van Deursen, Hu Li, Bjorn Bakker, Darren J. Baker
Publikováno v:
The Journal of Clinical Investigation, 130(1), 171-188. AMER SOC CLINICAL INVESTIGATION INC
J Clin Invest
J Clin Invest
Mosaic-variegated aneuploidy (MVA) syndrome is a rare childhood disorder characterized by biallelic BUBR1, CEP57, or TRIP13 aberrations; increased chromosome missegregation; and a broad spectrum of clinical features, including various cancers, congen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e7a89c8ec8d01aa925492db159378e7c
https://research.rug.nl/en/publications/e82b754d-8c2a-4bac-b97f-9aa021c61734
https://research.rug.nl/en/publications/e82b754d-8c2a-4bac-b97f-9aa021c61734