Results 171 to 180 of about 93,691 (297)

Mass Spectrometry Structural Proteomics Enabled by Limited Proteolysis and Cross‐Linking

Mass Spectrometry Reviews, EarlyView.
ABSTRACT The exploration of protein structure and function stands at the forefront of life science and represents an ever‐expanding focus in the development of proteomics. As mass spectrometry (MS) offers readout of protein conformational changes at both the protein and peptide levels, MS‐based structural proteomics is making significant strides in the
Haiyan Lu, Zexin Zhu, Lauren Fields, Hua Zhang, Lingjun Li   +4 more
wiley   +1 more source

Preimplantation genetic testing for complex chromosomal rearrangements: clinical outcomes and potential risk factors. [PDF]

Front Genet
Liu D, Chen C, Huang Q, Dong Y, Xu L, Dong M, Zhu Z, Huang L, Wang F, Zhang L, Zhang X, Liu F.   +11 more
europepmc   +1 more source

CRISPR Enabled Precision Oncology: From Gene Editing to Tumor Microenvironment Remodeling

Med Research, EarlyView.
CRISPR technology has progressed from a prokaryotic immune system to a diverse suite of editing platforms, including Cas nucleases, base and prime editors, and RNA‐targeting enzymes. These advances enable precise genomic and epigenomic interventions, high‐throughput functional screening, and immune engineering.
Kailai Li, Peixin Huang, Yue Qian, Anqi Lin, Jingjun He, Junyi Shen, Li Chen, Kai Miao, Jian Zhang   +8 more
wiley   +1 more source

Complex chromosomal rearrangements by single catastrophic pathogenesis in NUT midline carcinoma. [PDF]

Ann Oncol, 2017
Lee JK, Louzada S, An Y, Kim SY, Kim S, Youk J, Park S, Koo SH, Keam B, Jeon YK, Ku JL, Yang F, Kim TM, Ju YS.   +13 more
europepmc   +1 more source

Integrating artificial intelligence (AI) into colorectal cancer reporting

The Journal of Pathology, EarlyView.
Abstract Artificial intelligence (AI) and deep learning (DL) are transforming cancer research and clinical care, with histopathology playing a central role in this transformation. In colorectal cancer (CRC), the second leading cause of cancer mortality world‐wide, multimodal and vision‐language models (VLMs) hold particular promise for enhancing the ...
Konstantin Bräutigam, Ann‐Marie Baker, Viktor H Koelzer, Jakob N Kather, Trevor A Graham   +4 more
wiley   +1 more source

Phenotypic interpretation of complex chromosomal rearrangements informed by nucleotide-level resolution and structural organization of chromatin. [PDF]

Eur J Hum Genet, 2018
Zepeda-Mendoza CJ, Bardon A, Kammin T, Harris DJ, Cox H, Redin C, Ordulu Z, Talkowski ME, Morton CC.   +8 more
europepmc   +1 more source

Detection of genetic imbalances in tumor genomes by fluorescence in situ hybridization with tumor genomic DNA and subregional DNA probes [PDF]

, 1993
Cremer, Thomas, Jauch, Anna, Joos, Stefan, Lengauer, Christoph, Lichter, Peter, Manoir, Stanislas du, Natarajan, Adayapalam T., Obe, Günter, Popp, Susanne, Ried, Thomas, Scherthan, Harry, Schröck, Evelin, Speicher, Michael R.   +12 more
core   +1 more source

Uncovering the Genetic Landscape of Spinal Dysraphism: A Retrospective Analysis of 150 Fetal Cases

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective Spinal dysraphism (SD) results from incomplete neural tube closure and encompasses a heterogeneous group of congenital anomalies with genetic and environmental etiologies. Although genetic contributions are recognized, causative variants remain insufficiently defined, and the clinical implications of extended genetic testing on ...
I. Bedei, A. Feresin, R. Zemet, D. Berner, D. Polidori, K. Fröbius, A. Skakkebæk, R. Axt‐Fliedner, M. Shoukier, C. Keil   +9 more
wiley   +1 more source

Gene List Selection Matters: Missed Diagnoses in Prenatal Exome Sequencing—PanelApp R21 and HPO‐Driven Versus OMIM‐Based Gene Lists

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate whether the causative variants found upon clinical exome sequencing in fetuses affected with selected structural anomalies would also be detected if PanelApp‐R21 or Human Phenotype Ontology (HPO)‐driven gene selection terms were applied instead.
Victoria Ardiles‐Ruesjas, Laia Rodriguez‐Revenga, Montse Pauta, Alfons Nadal, Gemma Arca, Laura Gort, Stiven Ernesto Sinisterra‐Díaz, Antoni Borrell   +7 more
wiley   +1 more source

Diagnosed After Birth—But Detectable Before? A Cohort Study of Prenatal Testing Potential

Prenatal Diagnosis, EarlyView.
ABSTRACT Objective To evaluate the yield of prenatal genetic testing in infants with a confirmed genetic diagnosis. Methods We retrospectively reviewed records of infants with a genetic diagnosis who were evaluated using a standardized genetic consult and testing approach. The predicted yield of various prenatal genetic sceening and diagnostic tools in
Allison Schartman, Olivia Woods, Leah Wetherill, Amy M. Breman, Benjamin M. Helm, Kristen Suhrie, Kristyne Stone   +6 more
wiley   +1 more source