Results 221 to 230 of about 394,012 (302)

Molecular and Cell Biological Characterization of Patient‐Derived Head and Neck Squamous Carcinoma Cell Lines

Cancer Science, EarlyView.
Patient‐derived head and neck squamous cell carcinoma (HNSCC) cells were genomically and cytogenetically characterized, revealing actionable alterations and chromosomal instability. Targeted therapies suppressed growth according to EGFR amplification or PIK3CA mutation status.
Kazue Ito, Noriko Ishida, Shin Ito, Norihisa Shindo, Satoshi Souma, Mai Mochizuki, Haruna Fujimori, Keiichi Tamai, Takayuki Imai, Tomoko Yamazaki, Kazunori Yamaguchi, Kento Sasaki, Yuya Miyakura, Shigekazu Murakami, Yuka Unno, Naoki Asano, Yukinori Asada, Jun Yasuda   +17 more
wiley   +1 more source

Decreased Expression of FAT4 Promotes Multiple Myeloma Proliferation and Migration by Targeting the Hippo/YAP Pathway

Cancer Science, EarlyView.
This study provides the first comprehensive characterization of the functional impact, and mechanistic role of FAT4 in MM. Our findings highlight the tumor‐suppressive role of FAT4 in MM and uncover a novel mechanism by which FAT4 regulates the Hippo/YAP pathway.
Lina Zhang, Na Shen, Xin Cheng, Qinglin Shi, Lijuan Chen, Xuxing Shen   +5 more
wiley   +1 more source

RNA elements required for the high efficiency of West Nile virus-induced ribosomal frameshifting. [PDF]

Nucleic Acids Res
Aleksashin NA, Langeberg CJ, Shelke RR, Yin T, Cate JHD.   +4 more
europepmc   +1 more source

Expanding the Phenotypic Spectrum Associated With Loss‐of‐Function SMARCA4 Variants to Eye Developmental Anomalies

Clinical Genetics, EarlyView.
This study expands the clinical spectrum of SMARCA4 by describing a novel phenotype in three unrelated individuals with truncating variants. Distinct from Coffin–Siris syndrome and rhabdoid tumor predisposition, this new association is characterized by ocular malformations, specifically microphthalmia and coloboma.
Bertrand Chesneau, Marjolaine Willems, Abdelhakim Bouazzaoui, Léopoldine Lequeux, Julie Plaisancié, Salima El Chehadeh, Hélène Dollfus, Nicolas Chassaing   +7 more
wiley   +1 more source

Non‐Isolated Dandy‐Walker Malformation: Exome Sequencing Efficacy and Phenotypic Expansions

Clinical Genetics, EarlyView.
Exome sequencing identified a diagnosis in 35% of 91 individuals with non‐isolated Dandy Walker malformation (DWM+). Only 24%–55% of these diagnoses could be made using a gene panel. We then demonstrated that DWM is a feature of disorders associated with ANKRD11, C2CD3, COL4A1, KMT2D, KRAS, OPHN1, SHOC2, SMARCB1, and WDR73.
Sarah Araji, Xiaonan Zhao, Jill A. Rosenfeld, Seema R. Lalani, Daryl A. Scott   +4 more
wiley   +1 more source

WDTC1 Haploinsufficiency as a Cause of Neurodevelopmental Phenotypes

Clinical Genetics, EarlyView.
In seven individuals heterozygous for loss‐of‐function or conserved missense variants, we demonstrate that loss of WDTC1 function causes a neurodevelopmental syndrome characterized by developmental delay, intellectual disability, and seizures.
Elyssa Smith, Victor Faundes, Xiaonan Zhao, Bixia Zheng, Gang Zhang, Xiao Mao, Emily Danko, Jason Laufman, Thomas Besnard, Bertrand Isidor, Benjamin Cogné, Brynjar Örn Jensson, Telma S. Sulem, Patrick Sulem, Jill A. Rosenfeld, Daryl A. Scott   +15 more
wiley   +1 more source

Cross-Species Insights Into Gamma Herpesvirus Transcriptomes: Long-Read and Multi-Omics Perspectives. [PDF]

J Med Virol
Shekhar R, McMahon S, Tibbetts SA, Flemington EK, Renne R.   +4 more
europepmc   +1 more source

Co‐inheritance of ITGA2B and TUBB1 variants in a family reveals distinct genetic contributions to platelet dysfunction

British Journal of Haematology, EarlyView.
Perla Bandini, Nina Borràs, Laura Martin‐Fernandez, Nuria Fernández‐Mosteirín, Maria Reyes Aguinaco, Olga Benítez, Natàlia Comes, Lorena Ramírez, Noemí González, Carina Lera, Carme Altisent, Francisco Vidal, Irene Corrales   +12 more
wiley   +1 more source

Whole Exome Sequencing for Romanian Patients With Neurodevelopmental Disorders Through an International Collaboration

Clinical Genetics, EarlyView.
Whole exome sequencing for Romanian patients with neurodevelopmental disorders through an international collaboration—this study has provided a 50% diagnostic yield for patients with NDDs (27 positive results from 54 patients), supporting the implementation of a WES analysis that can identify SNVs, small INDELs, CNVs, and mitochondrial variants ...
Alexandru Caramizaru, Cristina Durac, Andreea Dumitrescu, Alexandru Calota‐Dobrescu, Alix de Becdelièvre, Marina Konyukh, Denise Cassandrini, Hane Lee, Go Hun Seo, Seung Woo Ryu, Mihai Cucu, Iuliana Manuela Dragomir, Andreea Catana, Homa Tajsharghi, Edoardo Malfatti, Florin Burada, Amelia Dobrescu   +16 more
wiley   +1 more source

Interpreting ribosome dynamics during mRNA translation. [PDF]

J Biol Chem
Uematsu S, Qian SB.
europepmc   +1 more source