Results 181 to 190 of about 390,058 (293)

Pathogenic Variants in ATP1A3: Why Is There So Much Confusion? [PDF]

Neurol Genet
Sweadner KJ, Arystarkhova E, Haq IU, Brashear A, Ozelius LJ.   +4 more
europepmc   +1 more source

Twenty years of BRCA1 and BRCA2 molecular analysis at MMCI : current developments for the classification of variants [PDF]

, 2019
Claes, Kathleen, Foretova, L, Hazova, J, Machackova, E, Mikova, M, Navratilova, M, Stahlova Hrabincova, E, Svoboda, M, Trbusek, M, Vasickova, P   +9 more
core   +2 more sources

Pioglitazone plus (−)‐epigallocatechin gallate: a novel approach to enhance osteogenic performance in aged bone marrow mesenchymal stem cells

FEBS Open Bio, EarlyView.
Aged human bmMSCs are seeded in the scaffold. Osteoblastic induction can slightly increase cell's bone‐forming activity to produce bone‐like tissues, shown as the sporadic xylenol orange‐stained spots (the lower left image). Notably, pioglitazone plus EGCG co‐treatment dramatically increases cell's bone‐forming activity and bone‐like tissue production (
Ching‐Yun Chen, Jia‐Ci Jhang, Chun‐Yi Peng, Quốc Cường Nguyễn, Feng‐Huei Lin, Hung‐Ming Wu, Shankung Lin   +6 more
wiley   +1 more source

dUTPase is essential in zebrafish development and possesses several single‐nucleotide variants with pronounced structural and functional consequences

FEBS Open Bio, EarlyView.
dUTPases are involved in balancing the appropriate nucleotide pools. We showed that dUTPase is essential for normal development in zebrafish. The different zebrafish genomes contain several single‐nucleotide variations (SNPs) of the dut gene. One of the dUTPase variants displayed drastically lower protein stability and catalytic efficiency as compared ...
Viktória Perey‐Simon, Angéla Békesi, Latifa Kazzazy, Jázmin Mihály, Máté Varga, Beáta G. Vértessy, Kinga Nyíri   +6 more
wiley   +1 more source

Microglial dynamics and ferroptosis induction in human iPSC‐derived neuron–astrocyte–microglia tri‐cultures

FEBS Open Bio, EarlyView.
A tri‐culture of iPSC‐derived neurons, astrocytes, and microglia treated with ferroptosis inducers as an Induced ferroptosis model was characterized by scRNA‐seq, cell survival, and cytokine release assays. This analysis revealed diverse microglial transcriptomic changes, indicating that the system captures key aspects of the complex cellular ...
Hongmei Lisa Li, Hiroko Ohmiya, Sou Sakamoto, Masato Yugami, Akiko Oki, Makoto Furusawa, Yan Ling   +6 more
wiley   +1 more source

Hypercalcemia in pregnancy secondary to pathogenic variants in <i>CYP24A1</i>. [PDF]

Obstet Med
Wong JYP, Miles EA.
europepmc   +1 more source

Variants of Uncertain Significance and “Missing Pathogenicity”

Journal of the American Heart Association, 2020
Diane Fatkin, Renee Johnson
openaire   +3 more sources

Understanding bio‐based polymers: A study of origins, properties, biodegradation and their impact on health and the environment

FEBS Open Bio, EarlyView.
This review provides an overview of bio‐based polymer sources, their unique functional properties and their environmental impact, and addresses their role as sustainable alternatives. It discusses end‐of‐life options, including composting and anaerobic digestion for renewable energy.
Sabina Kolbl Repinc, Blaž Stres, Mirica Karlovits, Igor Karlovits, Petra Jerič, Ondrej Panák, Anja Verbič, Blaž Likozar, Uroš Novak   +8 more
wiley   +1 more source

Updated analysis of pathogenic variants in BRCA1/BRCA2 among the general Japanese population. [PDF]

Hum Genome Var
Mariya T, Idogawa M, Saito T, Nakase H, Tokino T, Sakurai A.   +5 more
europepmc   +1 more source

Multi‐omics and low‐input proteomics profiling reveals dynamic regulation driving pluripotency initiation in early mouse embryos

FEBS Open Bio, EarlyView.
Mouse pre‐implantation development involves a transition from totipotency to pluripotency. Integrating transcriptomics, epigenetic profiling, low‐input proteomics and functional assays, we show that eight‐cell embryos retain residual totipotency features, whereas cytoskeletal remodeling regulated by the ubiquitin‐proteasome system drives progression ...
Wanqiong Li, Xi Xiao, Lingbin Qi, Chanyi Li, Sirui Song, Jiaying Qin, Zhigang Xue, Jinfeng Xue, Huaifang Li   +8 more
wiley   +1 more source