Results 301 to 310 of about 2,140,385 (376)

Advancing diagnosis and research for rare genetic diseases in Indigenous peoples. [PDF]

Nat Genet
Baynam G, Julkowska D, Bowdin S, Hermes A, McMaster CR, Prichep E, Richer É, van der Westhuizen FH, Repetto GM, Malherbe H, Reichardt JKV, Arbour L, Hudson M, du Plessis K, Haendel M, Wilcox P, Lynch SA, Rind S, Easteal S, Estivill X, Caron N, Chongo M, Thomas Y, Letinturier MCV, Vorster BC.   +24 more
europepmc   +1 more source

FAM136A depletion induces mitochondrial stress and reduces mitochondrial membrane potential and ATP production

FEBS Open Bio, EarlyView.
FAM136A depletion upregulated ROS production, reduced mitochondrial membrane potential (ΔΨ) and ATP production, and upregulated expression of PCK1, PCK2, HMGCS1, and HMGCS2. The expression of both TOMM22 and TOMM20 was also upregulated. FAM136A depletion reduced HCCS that produce holocytochrome c by combining heme to apocytochrome c, and reduced the ...
Yushi Otsuka, Masato Yano
wiley   +1 more source

Long read sequencing on its way to the routine diagnostics of genetic diseases. [PDF]

Front Genet
Olivucci G, Iovino E, Innella G, Turchetti D, Pippucci T, Magini P.   +5 more
europepmc   +1 more source

Comparative activity of dimethyl fumarate derivative IDMF in three models relevant to multiple sclerosis and psoriasis

FEBS Open Bio, EarlyView.
IDMF is a derivative of dimethyl fumarate (DMF) with a unique therapeutic potential at the intersection of psoriasis and multiple sclerosis. Here, we demonstrate that it compares favorably with DMF and its other derivatives, such as Diroximel, in the zebrafish, microglia, and lymphocyte models.
Yulin He, Guiyi Gong, Geovani Quijas, Simon Ming‐Yuen Lee, Ratan K. Chaudhuri, Krzysztof Bojanowski   +5 more
wiley   +1 more source

CRISPR-Cas9 Gene Editing: Curing Genetic Diseases by Inherited Epigenetic Modifications. [PDF]

Glob Med Genet
Kolanu ND.
europepmc   +1 more source

Pharmacological effects of osimertinib on a chicken chorioallantoic membrane xenograft model with the EGFR exon‐19‐deleted advanced NSCLC mutation

FEBS Open Bio, EarlyView.
Osimertinib reduces angiogenesis and PDL1 expression in in ovo tumors, transforming them into ‘cold tumors’ with lower immune activity. Anatomopathological and transcriptomic analyses highlight its therapeutic impact on tumor biology. This study underscores osimertinib's potential to reshape the tumor microenvironment and provides insights into its ...
David Barthélémy, Arnaud Vigneron, Xavier Rousset, Jérome Guitton, Emmanuel Grolleau, Margaux Raffin, Julie Balandier, Gaëlle Lescuyer, Mathilde Bardou, Florence Geiguer, Sébastien Couraud, Claire Bardel, Jean Viallet, Nazim Benzerdjeb, Léa Payen   +14 more
wiley   +1 more source

Between hope and reality: treatment of genetic diseases through nucleic acid-based drugs. [PDF]

Commun Biol
Baylot V, Le TK, Taïeb D, Rocchi P, Colleaux L.   +4 more
europepmc   +1 more source

Proteome-scale prediction of molecular mechanisms underlying dominant genetic diseases

, 2023
Badonyi M, Marsh JA.
europepmc   +1 more source

A potential tumor suppressor role of PLK2 in glioblastoma

FEBS Open Bio, EarlyView.
PLK2 was consistently downregulated in GBM tissues. Overexpression of PLK2 in GBM cell lines U87MG and U251 reduced their tumorigenic potential and enhanced cell cycle arrest and apoptosis. Suggesting that PLK2 overexpression could potentially be leveraged as a therapeutic strategy to inhibit tumor progression and enhance apoptosis, providing new ...
Xiangping Xia, Peirui Wang, Hua Xiao, Qishan Ran, Yan Li, Shengtao Yao   +5 more
wiley   +1 more source

Genetic disease and amyloid [PDF]

Journal of Clinical Pathology, 1978
openaire   +4 more sources