Results 61 to 70 of about 1,243 (149)

Rps19R67∆ mutation creates a model of Diamond–Blackfan anemia and reveals downstream mediators of p53 pathway

HemaSphere, Volume 10, Issue 1, January 2026.
Abstract Diamond–Blackfan anemia (DBA) is a rare bone marrow failure syndrome accompanied by cardiovascular, skeletal, and urogenital abnormalities. Most of the affected individuals carry mutations in ribosomal proteins, including RPS19, a component of the 40S ribosomal subunit.
Juraj Kokavec, Tereza Turková, Björn Schuster, Jan Prochazka, František Spoutil, Kristína Jamrichová, Markéta Holečková, Karel Chalupský, Inken M. Beck, Jesús Ruberte, Matilde Vale, Lukáš Čermák, Tomáš Stopka, Radislav Sedlacek   +13 more
wiley   +1 more source

A novel intronic TCOF1 pathogenic variant in a Chinese family with Treacher Collins syndrome

BMC Medical Genomics
Background Treacher Collins syndrome (TCS; OMIM 154500) is a craniofacial developmental disorder. Methods To investigate the genetic features of a four-generation Chinese family with TCS, clinical examinations, hearing tests, computed tomography, whole ...
Haojie Sun, Xinda Xu, Binjun Chen, Yanmei Wang, Jihan Lyu, Luo Guo, Yasheng Yuan, Dongdong Ren   +7 more
doaj   +1 more source

Mammalian neurogenesis requires Treacle-Plk1 for precise control of spindle orientation, mitotic progression, and maintenance of neural progenitor cells.

PLoS Genetics, 2012
The cerebral cortex is a specialized region of the brain that processes cognitive, motor, somatosensory, auditory, and visual functions. Its characteristic architecture and size is dependent upon the number of neurons generated during embryogenesis and ...
Daisuke Sakai, Jill Dixon, Michael J Dixon, Paul A Trainor   +3 more
doaj   +1 more source

Dynamic Proteome Landscape During Preimplantation Human Embryo Development and Trophectoderm Stem Cell‐Differentiation

PROTEOMICS, Volume 25, Issue 15, Page 72-89, August 2025.
ABSTRACT Embryo development involves fertilization of a mature ovum, which, after sequential cell divisions (2‐,4‐8‐cells and morula), undergoes differentiation into implantation competent blastocyst. The blastocyst comprises of inner cell mass surrounded by an outer layer of cells called the trophoblast (TSblast) that, upon attachment to the ...
Alin Rai, Qi Hui Poh, Hiroaki Okae, Takahiro Arima, Mehdi Totonchi, David W. Greening   +5 more
wiley   +1 more source

The TP53 tumor suppressor gene: From molecular biology to clinical investigations

Journal of Internal Medicine, Volume 298, Issue 2, Page 78-96, August 2025.
Abstract Extensively studied over the past four decades, the TP53 gene has emerged as a pivotal watchman in cellular defense and a key factor in cancer biology. TP53 is the most frequently mutated gene in human malignancies, 50% of which carry alterations to it.
Panagiotis Baliakas, Thierry Soussi
wiley   +1 more source

Induction and Manipulation of Biomolecular Condensates Through Spatially Heterogeneous Solution Conditions

ChemBioChem, Volume 26, Issue 10, May 27, 2025.
In this concept article, it is discussed how spatial control over the formation and movement of biomolecular condensates (BMCs) can be achieved and how this type of control can help in the reliable generation and study of BMCs. Spatial control over BMCs is crucial in vivo and therefore also desirable for in vitro studies in order to approach relevant ...
Alexander K. Buell
wiley   +1 more source

Research Progress on Embryonic Development, Genetic Regulation and Clinical Management of Congenital Middle Ear Malformations

Flavour and Fragrance Journal, Volume 40, Issue 3, Page 393-401, May 2025.
This article systematically reviews the embryonic development process and gene regulatory mechanisms of the middle ear, with a particular focus on the role of the Tbx1 gene, which is closely associated with middle ear development, in middle ear malformations, especially those involving the ossicular chain.
Xiaochen Gao, Chengzhilin Li, Fanyu Yuan, Xue Cao, Chengcheng Liu, Wenwen Qi, Fengyang Xie, Ming Xia   +7 more
wiley   +1 more source

Bioinformatics Identification of Lactate‐Associated Genes in Hepatocellular Carcinoma: G6PD's Role in Immune Modulation

Cancer Medicine, Volume 14, Issue 6, March 2025.
ABSTRACT Background Hepatocellular carcinoma (HCC) is a major global health issue, with poor prognosis often associated with dysregulated metabolic pathways, especially lactate metabolism. This study explored the prognostic significance of lactate‐associated genes in HCC and their potential as therapeutic targets.
Hao‐ran Qu, Chao‐qun Wang, Su‐juan Sun, Wen‐wen Zhang, Cheng‐hao Liu, Xuan‐shuang Du, Yao‐yi‐ao Shu, Xi‐cheng Wang, Qin Pan, Feng‐ling Luo, Hong‐yan Wu, Xiao‐lian Zhang, Min Liu   +12 more
wiley   +1 more source

A new peptide inhibitor of C1QBP exhibits potent anti‐tumour activity against triple negative breast cancer by impairing mitochondrial function and suppressing homologous recombination repair

Clinical and Translational Medicine, Volume 15, Issue 1, January 2025.
The newly discovered peptide PDBAG1 is the first small molecule substance found to directly target and degrade C1QBP, demonstrating significant tumour inhibitory effects and therapeutic potential. Abstract C1QBP exhibits heightened expression across a spectrum of tumours, thereby fostering their proliferation and metastasis, rendering it a pivotal ...
Xingxing Li, Yue Wu, Min Zhang, Fengliang Wang, Hong Yin, Yanrong Zhang, Shuli Zhao, Jiehua Ma, Mingming Lv, Cheng Lu   +9 more
wiley   +1 more source