Results 191 to 200 of about 64,155 (301)

Aberrant Splicing as a Mechanism for Resistance to Cancer Therapies. [PDF]

Cancers (Basel)
Duzgun D, Oltean S.
europepmc   +1 more source

Deciphering the Impact of RAC1‐SPTAN1 in ARPKD Cystogenesis Using Multifaceted Models

Advanced Science, EarlyView.
Distal/connecting tubules expressing SLC8A1 have been suggested as a potential origin of ARPKD cysts. SPTAN1 has been identified as a key molecule in ARPKD cyst formation. Restoring SPTAN1 in PKHD1−/− organoids reduced cyst formation, normalized calcium levels, and decreased RAC1/c‐FOS expression, highlighting SPTAN1's role in ARPKD and the potential ...
Shohei Kuraoka, Yuhei Higashi, Suguru Saito, Solmaz Pourgonabadi, Honami Honjoh, Sho Ishigaki, Peter C. Harris, Lisa M. Satlin, Michifumi Yamashita, Ryuji Morizane   +9 more
wiley   +1 more source

TP53 R249S mutation in hepatic organoids captures the predisposing cancer risk

Hepatology, EarlyView., 2022
The systematic approach in elucidating the gain‐of‐function (GOF) roles of TP53 mutations in early liver carcinogenesis. Unique downstream targets of TP53 L3 mutations were identified from chormatin immunoprecipitation sequencing in HCC cell lines, followed by a series of validation assays to substantiate the exclusive transcriptional regulations ...
Yin Kau Lam, Jianqing Yu, Hao Huang, Xiaofan Ding, Alissa M. Wong, Howard H. Leung, Anthony W. Chan, Kelvin K. Ng, Mingjing Xu, Xin Wang, Nathalie Wong   +10 more
wiley   +1 more source

Prime editing for the investigation of aberrant splicing defect associated with a pathogenic <i>PRPH2</i> variant. [PDF]

Mol Ther Nucleic Acids
Lopes da Costa B, Helms KM, Theodore K, Tsai YT, Caruso SM, Liu S, Lima de Carvalho JR, Nolan ND, Tahir S, Makinson CD, Tsang SH, Quinn PMJ.   +11 more
europepmc   +1 more source

Cells Dynamically Adapt Their Nuclear Volumes and Proliferation Rates During Single to Multicellular Transitions

Advanced Science, EarlyView.
It is currently not well understood how cells regulate basic properties, e.g., volume and mechanics within dense multicellular environments like tumors. Here, we show that different cell types of cancer and also normal cells largely decrease their nuclear and cellular volumes in emerging cell clusters and that this is partly driven by cell cycle shifts.
Vaibhav Mahajan, Keshav Gajendra Babu, Markus Mukenhirn, Antje Garside, Vinita Ajit Kini, Trishla Adhikari, Timon Beck, Byung Ho Lee, Kyoohyun Kim, Carsten Werner, Raimund Schlüßler, Alf Honigmann, Sebastian Aland, Anna Verena Taubenberger   +13 more
wiley   +1 more source

Aberrant Splicing Burden Predicts Immune Infiltration and Prognosis in Head and Neck Squamous Cell Carcinomas. [PDF]

Head Neck
Kalavacherla S, Bendik J, Victor M, Carter H, Califano JA, Guo T.   +5 more
europepmc   +1 more source

Developmental Basis of Cardiac Inherited Diseases470Extracardiac endothelium patterns embryonic coronary arterio-venous connections471DCM-associated RBM20-mutations lead to aberrant splicing of titin and ryanodin receptor 2 in the human myocardium472The impact of missense versus nonsense mutations in arrhythmogenic cardiomyopathy phenotype [PDF]

, 2016
José M. Pérez‐Pomares, Anna Gaertner, Elisabetta Lazzarini, Elena Cano, Rita Carmona, Adrián Ruiz‐Villalba, Anabel Rojas, YY Chau, KD Wagner, Nicole Wagner, ND Hastie, Ramón Muñoz‐Chápuli, Baerbel Klauke, WA Linke, Uwe Schulz, KT Laser, Jan Gummert, Hendrik Milting, Barbara Bauce, Marco Cason, Rudy Celeghin, Ilaria Rigato, Elisa Carturan, Stefania Rizzo, Gaetano Thiene, Cristina Basso, Kalliopi Pilichou   +26 more
openalex   +1 more source

Multi‐Tissue Omics Analysis Uncovers Translational Regulation Underlying Complex Traits in Pigs

Advanced Science, EarlyView.
Integrated multi‐omics across pig breeds and tissues reveals key principles of post‐transcriptional translational regulation and their contribution to trait formation. A gene network framework integrating transcriptomic and translatomic data is developed and applied to elucidate the genetic basis of meat production, offering new insights into mammalian
Chao Wang, Yuanyuan Zhang, Choulin Chen, Xiaoxian Xu, Shenghua Qin, Junyan Qi, Yongzhou Bao, Huiming Li, Ruipu Chen, Weigang Zheng, Zhilong Chen, Lingzhao Fang, Yunxiang Zhao, Yuwen Liu   +13 more
wiley   +1 more source

Whole-genome sequencing identified a deep intronic COL4A5 variant causing aberrant splicing in a female patient with X-linked Alport syndrome. [PDF]

CEN Case Rep
Nagano C, Aoyama S, Kimura Y, Inoki Y, Sakakibara N, Horinouchi T, Yamamura T, Ishimori S, Nozu K.   +8 more
europepmc   +1 more source

Correction: Aberrant Splicing of Hugl-1 [PDF]

Clinical Cancer Research, 2009
openaire   +1 more source