Results 91 to 100 of about 2,358 (194)

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

Efficient algorithms to discover alterations with complementary functional association in cancer

, 2018
Recent large cancer studies have measured somatic alterations in an unprecedented number of tumours. These large datasets allow the identification of cancer-related sets of genetic alterations by identifying relevant combinatorial patterns.
Basso, Rebecca Sarto, Hochbaum, Dorit S., Vandin, Fabio   +2 more
core   +2 more sources

A ceRNA approach may unveil unexpected contributors to deletion syndromes, the model of 5q- syndrome [PDF]

, 2015
In genomic deletions, gene haploinsufficiency might directly configure a specific disease phenotype. Nevertheless, in some cases no functional association can be identified between haploinsufficient genes and the deletion-associated phenotype ...
Arancio, W., Bongiovanni, L., Genovese, S., Tripodo, C.   +3 more
core   +2 more sources

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 molecular 'signature' of primary breast cancer cultures; patterns resembling tumor tissue [PDF]

, 2004
Background To identify the spectrum of malignant attributes maintained outside the host environment, we have compared global gene expression in primary breast tumors and matched short-term epithelial cultures.
SH Dairkee, SH Dairkee, Z Li, V Band, OW Petersen, SP Ethier, CI Sartor, AF Gazdar, V Speirs, DV Fournier, P Yaswen, II Wistuba, Z Li, DT Ross, M Ashburner, MB Datto, J Gong, M Kallassy, AD Thor, JA Gutierrez, SJ Kim, N Resnick, R Derynck, OW Petersen, LJ van 't Veer, H Zhao, D Shalon, MB Eisen, VG Tusher   +28 more
core   +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

Diagnosis of Treacher-Collins Syndrome: The role of the multidisciplinary team in patient management and family genetic counseling

Rwanda Medical Journal, 2022
INTRODUCTION: Although Treacher-Collins syndrome has to be considered a differential diagnosis in congenital craniofacial abnormalities, the clinical diagnosis and research related to it still present a gap, especially in African regions.
B. Tuyishimire, H. Irere, C. Muhizi, A. Ndatinya, O. R. Karangwa, F. Rutarama, C. Nsanzabaganwa, L. Mutesa   +7 more
doaj  

Aurora at the pole and equator: overlapping functions of Aurora kinases in the mitotic spindle [PDF]

, 2013
The correct assembly and timely disassembly of the mitotic spindle is crucial for the propagation of the genome during cell division. Aurora kinases play a central role in orchestrating bipolar spindle establishment, chromosome alignment and segregation.
Hegarat, N., Hochegger, H., Pereira-Leal, J. B.   +2 more
core   +1 more source

Treacher Collins syndrome and implications in the oral cavity [PDF]

, 2020
Background and Objective: Treacher Collins syndrome, also called mandibula-facial dysostosis, is a congenital disorder. It is the aim of this work to clarify the etiology, diagnosis, phenotypic craniofacial and oral characteristics of the syndrome, as ...
Cardoso, Inês Lopes, Duque, C.
core   +1 more source

Identification of Endoplasmic Reticulum Stress‐Related Genes in Osteoporosis Pathogenesis

Mediators of Inflammation, Volume 2025, Issue 1, 2025.
Background: Osteoporosis is a prevalent metabolic bone disorder with complex molecular underpinnings. Emerging evidence implicates endoplasmic reticulum stress (ERS) in its pathogenesis; however, systematic exploration of ERS‐related genes (ERSRGs) remains limited.
Yiren Zhu, Xiu Yang, Yunan Lu, Jiayu He, Bo Liu, Yongfa Zhang, Zhengchao Zhang, Mirella Giovarelli   +7 more
wiley   +1 more source