Results 41 to 50 of about 1,071,201 (269)

Next‐generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss

Molecular Genetics & Genomic Medicine, 2020
Background Hearing loss (HL) is a common sensory disorder in humans characterized by extreme clinical and genetic heterogeneity. In recent years, next‐generation sequencing (NGS) technologies have proven to be highly effective and powerful tools for ...
Yan‐Bao Xiang, Chen‐Yang Xu, Yun‐Zhi Xu, Huan‐Zheng Li, Li‐Li Zhou, Xue‐Qin Xu, Zi‐Hui Chen, Shao‐Hua Tang   +7 more
doaj   +1 more source

The planar cell polarity protein Vangl2 interacts with the PDZ‐domains of Scribble but not with a unique PDZ‐like domain in Inturned

FEBS Letters, EarlyView.
Structural and biochemical characterisations show that the planar cell polarity (PCP) protein Inturned harbours a unique PDZ‐like domain that does not bind canonical PDZ‐binding motifs (PBMs) like that of another PCP protein Vangl2. In contrast, the apical‐basal polarity protein Scribble contains four PDZ domains that bind Vangl2, but one PDZ domain ...
Stephan Wilmes, Jan Brysch, Carmen Gelze, Lilli Meier, Daniel Kümmel   +4 more
wiley   +1 more source

Tunable Optical Properties and the Role of Defects on the Carrier Lifetimes of Cs3Sb2I9 Synthesized in Various Solvents

Advanced Photonics Research, 2023
Pb‐free halide perovskites have recently attracted immense attention due to the number of advantages in their optical and electronic properties. However, tuning the optical bandgap with minimized amounts of point defects is a particularly challenging ...
Samuel M. Neguse, Songhak Yoon, Alexander Frebel, Dennis M. Jöckel, Marc Widenmeyer, Stefan Lange, Arnulf Rosspeintner, Stefan G. Ebbinghaus, Christian Hagendorf, Benjamin Balke, Anke Weidenkaff   +10 more
doaj   +1 more source

Diversity and complexity in neural organoids

FEBS Letters, EarlyView.
Neural organoid research aims to expand genetic diversity on one side and increase tissue complexity on the other. Chimeroids integrate multiple donor genomes within single organoids. Self‐organising multi‐identity organoids, exogenous cell seeding, or enforced assembly of region‐specific organoids contribute to tissue complexity.
Ilaria Chiaradia, Madeline A. Lancaster
wiley   +1 more source

A novel de novo RNF13 variant in developmental and epileptic encephalopathy 73: genotype–phenotype correlation and literature review

BMC Neurology
Background Developmental and epileptic encephalopathy-73 (DEE73, OMIM: #618379) is a rare autosomal dominant genetic disorder. This study reports a novel de novo RNF13 variant in a Chinese patient, aiming to assess its pathogenicity and expand ...
Qiang Zhang, Qi Yang, Xunzhao Zhou, Shujie Zhang, Yiyan Ruan, Jingsi Luo   +5 more
doaj   +1 more source

Hyperosmotic stress induces PARP1‐mediated HPF1‐dependent mono(ADP‐ribosyl)ation

FEBS Letters, EarlyView.
Sorbitol‐induced hyperosmotic stress rapidly induces reversible mono(ADP‐ribosyl)ation (MARylation) on PARP1 without the signs of genotoxic signaling. We show that PARP1 autoMARylation is HPF1 dependent and forms hydroxylamine‐resistant O‐glycosidic linkages.
Anna Georgina Kopasz, Mihály Mérey, Rebeka Vásárhelyi, Ramóna Pék, Victor Imburchia, László Henn, Adrián Kószó, Nicholas D. Lakin, Ivan Ahel, Sébastien Huet, Ágnes Czibula, Gyula Timinszky   +11 more
wiley   +1 more source

Multi-omics evaluation of the prognostic value and immune signature of FCN1 in pan-cancer and its relationship with proliferation and apoptosis in acute myeloid leukemia

Frontiers in Genetics
BackgroundThe FCN1 gene encodes the ficolin-1 protein, implicated in the pathogenesis of various diseases, though its precise role in tumorigenesis remains elusive. This study aims to elucidate the prognostic significance, immune signature, and treatment
Fangfang Zhong, Lijun Song, Hao li, Jing Liu, Chunyan Liu, Qulian Guo, Wenjun Liu   +6 more
doaj   +1 more source

An isoform of 14‐3‐3 protein regulates transbilayer lipid movement at the plasma membrane

FEBS Letters, EarlyView.
Loss of 14‐3‐3ζ in CHO cells confers resistance to exogenous phosphatidylserine (PS) and impairs endocytosis‐independent inward flip‐flop of fluorescent PS at the plasma membrane. RNAi‐mediated knockdown reproduces this defect, while no additive effect is seen in ATP11C‐deficient cells.
Akiko Yamaji‐Hasegawa, Akira Hattori, Masafumi Tsujimoto, Toshihide Kobayashi   +3 more
wiley   +1 more source

A surveillance-based epidemiological study of renal agenesis in 25 million births in china, 2007–2020

BMC Pregnancy and Childbirth
Background Renal agenesis (RA), a rare congenital kidney defect, varies in clinical severity. Unilateral renal agenesis (URA) is more prevalent and may cause long-term renal complications, whereas bilateral renal agenesis (BRA) is typically fatal.
Yuyang Gao, Wenli Xu, Wenyan Li, Zhiyu Chen, Qi Li, Zhen Liu, Li Dai   +6 more
doaj   +1 more source

Epigenetic blind spots – the role of DNA methylation dynamics in stem cell‐based models of embryogenesis

FEBS Letters, EarlyView.
Embryo‐like structures (stembryos) are an innovative tool, but they are hindered by experimental variability and limited developmental potential. DNA methylation is crucial for mammalian development, but its status in stembryo models is poorly characterized.
Sara Canil, Anna Corrà, Annalisa Scapolatiello, Chengxiang Qiu, Gianluca Amadei   +4 more
wiley   +1 more source