Results 101 to 110 of about 122,453 (313)

Fluorouracil modulates the genome of HCT116 colorectal cancer cells as revealed by whole exome sequencing [PDF]

, 2022
Hussein Sabit, Thamer Alshammari, Sarah Ameen Almofty   +2 more
openalex   +1 more source

Circulating Tumor Cells in Multiple Myeloma: From Peripheral Clues to Central Insights

American Journal of Hematology, EarlyView.
CTC offer a minimally invasive widow into systemic myeloma biology, overcoming the sampling bias of bone marrow biopsies. Their prognostic value at diagnosis, potential role in MRD monitoring, and ability to capture clonal evolution highlight them as actionable biomarkers for future precision medicine.
Benjamin Podvin, Bruno Paiva, Irene M. Ghobrial, Salomon Manier   +3 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

Genomic Profiling of Childhood Tumor Patient-Derived Xenograft Models to Enable Rational Clinical Trial Design. [PDF]

, 2019
Accelerating cures for children with cancer remains an immediate challenge as a result of extensive oncogenic heterogeneity between and within histologies, distinct molecular mechanisms evolving between diagnosis and relapsed disease, and limited ...
Baxter, Patricia, Bendak, Katerina, Berko, Esther R, Bowen, Jay, Braun, Frank K, Bryan, Anthony C, Böhm, Julia W, Cardenas, Maria F, Chen, Yidong, Coppens, Sara E, Cross, Katherine L, Diskin, Sharon J, Doddapaneni, HarshaVardhan, Du, Yunchen, Egolf, Laura E, Evans, Kathryn, Farrel, Alvin, Gaonkar, Krutika S, Gastier-Foster, Julie M, Gatto, Gregory J, Gorlick, Richard, Greene, Casey S, Haber, Michelle, Hart, Lori S, Haussler, David, Houghton, Peter J, Jayaseelan, Joy, Kalletla, Karthik, Kendsersky, Nathan M, Kolb, E Anders, Krytska, Kateryna, Kurmashev, Dias, Kurmasheva, Raushan T, Leraas, Kristen M, Li, Xiao-Nan, Lindsay, Holly B, Lock, Richard B, Lopez, Gonzalo, Maris, John M, Marshall, Glenn M, Mayoh, Chelsea, McCalmont, Hannah, McCoy, Kristyn, Modi, Apexa, Momin, Zeineen, Morton, Christopher, Mosse, Yael P, Nance, Jonas, Patel, Khushbu, Pfeil, Jacob, Qi, Lin, Raman, Pichai, Rathi, Komal S, Reynolds, C Patrick, Rokita, Jo Lynne, Sacks, Gregory I, Sanchez, Yolanda, Shu, Jack, Smith, Malcolm A, Tyrrell, Vanessa, Upton, Kristen A, Vaksman, Zalman, Vaske, Olena Morozova, Way, Gregory P, Wheeler, David A, Zhang, Huiyuan, Zhang, Wendong, Zhao, Sibo, Zheng, Siyuan   +68 more
core  

Novel compound mutations in the mitochondrial translation elongation factor (TSFM) gene cause severe cardiomyopathy with myocardial fibro-adipose replacement [PDF]

, 2019
Primary mitochondrial dysfunction is an under-appreciated cause of cardiomyopathy, especially when cardiac symptoms are the unique or prevalent manifestation of disease.
Bonnen, Penelope E, Carbo, Miriam, Cerbelli, Bruna, D'Amati, Giulia, Della Monica, Paola Lilla, Falkous, Gavin, Giordano, Carla, Glasgow, Ruth I C, Hardy, Steven A, He, Langping, Morea, Veronica, Perli, Elena, Pignataro, Maria Gemma, Pisano, Annalinda, Re, Federica, Taylor, Robert W, Zacara, Elisabetta   +16 more
core   +2 more sources

The Novel ACTC1 p.Gly50Ser Variant Is Associated With Arrhythmia and Secondary Features of HCM Without Hypertrophy

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The key diagnostic criterion for hypertrophic cardiomyopathy is the presence of otherwise unexplained hypertrophy. Current definitions of HCM rely on specific thresholds to establish a diagnosis, while guideline directed risk stratification algorithms take its magnitude into consideration.
Thomas D. Gossios, Dimitrios Ntelios, Thomas Zegkos, Despoina Parcharidou, Pavlos Rouskas, Sotirios Katranas, Ioannis Papoulidis, Vlasis Ninios, Antonios Ziakas, Georgios K. Efthimiadis   +9 more
wiley   +1 more source

Challenges in identifying cancer genes by analysis of exome sequencing data. [PDF]

, 2016
Massively parallel sequencing has permitted an unprecedented examination of the cancer exome, leading to predictions that all genes important to cancer will soon be identified by genetic analysis of tumours.
Bandyopadhyay, Sourav, Carter, Hannah, Friend, Stephen, Hofree, Matan, Ideker, Trey, Kreisberg, Jason F, Mischel, Paul S   +6 more
core   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12‐Related Developmental Disorders

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Towards Better Understanding of Artifacts in Variant Calling from High-Coverage Samples [PDF]

, 2015
Motivation: Whole-genome high-coverage sequencing has been widely used for personal and cancer genomics as well as in various research areas. However, in the lack of an unbiased whole-genome truth set, the global error rate of variant calls and the ...
Li, Heng
core   +1 more source

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source