Results 171 to 180 of about 54,945 (293)

Therapeutic Gene Editing: DNA Repair Pathways, Emerging Editors, and Clinical Progress

iNew Medicine, EarlyView.
ABSTRACT The field of gene editing has evolved rapidly over the past decade, progressing from programmable zinc‐finger nucleases (ZFNs) and transcription activator‐like effector nucleases (TALENs) to the widespread adoption of CRISPR‐Cas systems. First‐generation editors catalyzed genome engineering by introducing targeted double‐strand breaks (DSBs ...
Li‐Kuang Tsai, Youcai Xiong, Dongqi Liu, Dongshan Yang, Jifeng Zhang, Jie Xu, Renzhi Han, Y. Eugene Chen   +7 more
wiley   +1 more source

A novel desmin (DES) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy. [PDF]

Mol Genet Genomic Med, 2018
Schirmer I, Dieding M, Klauke B, Brodehl A, Gaertner-Rommel A, Walhorn V, Gummert J, Schulz U, Paluszkiewicz L, Anselmetti D, Milting H.   +10 more
europepmc   +1 more source

Chinese pan‐cancer patient genomic characteristics: A comprehensive analysis based on the National Cancer Center–Clinical Diagnostics Knowledgebase real‐world clinical sequencing cohort

Interdisciplinary Medicine, EarlyView.
We assembled National Cancer Center–Clinical Diagnostics Knowledgebase, a clinical genomic knowledgebase of 6935 tumors with matched normal samples, revealing key somatic alterations and actionable variants (70.2% of the cohort). Enrichment of certain different gene mutations was observed between Chinese and American populations, along with a strong ...
Hongrui Li, Shun Wang, Guowei Zhao, Jiangtao Li, Xin Li, Bingning Wang, Yi Zhang, Mengfei Yao, Lei Guo, Jianming Ying, Wenbin Li   +10 more
wiley   +1 more source

Small Nucleotide Variant Analysis Using RNA Fusion Panel (SMURF): Making the Most of RNAseq Data in Solid Tumours

Journal of Clinical Laboratory Analysis, EarlyView.
RNA‐based fusion panels using targeted next‐generation sequencing of formalin‐fixed paraffin‐embedded (FFPE) tumour tissue specimens have been used for a few years from patients with various tumour types to detect rearrangements/fusions. Using the bioinformatic approaches the data obtained from RNA sequencing (RNAseq) can also be used for small ...
Pranav Dorwal, Julie Robin, Broden Krause, Patricia Pyrchla, Bin Yuan, Robert Quach, Anna Fong Na Goh, Pamela Htain, Noel Djitro, Amit Kumar, Liyan Song, Priscillia Siswara, Suzanne Svobodova, Peter Kaub, Beena Kumar   +14 more
wiley   +1 more source

Pitfalls in interpreting autosomal InDel markers profiling: A study on mutations in tumoural specimens

Forensic Science International: Genetics, 2021
Tozzo, Pamela, Chiara Frigo, Anna, Caenazzo, Luciana   +2 more
openaire   +3 more sources

Expanding the genotypic spectrum of PCSK1 deficiency: A novel mutation in severe neonatal diarrhea

JPGN Reports, EarlyView.
Abstract Among congenital diarrhea and enteropathies (CODEs), proprotein convertase subtilisin/kexin type 1 (PCSK1) deficiency is a rare monogenic disorder, associated with severe neonatal diarrhea and polyendocrinopathies. We report an 18‐day‐old male neonate, born to consanguineous parents, presenting with persistent watery diarrhea, metabolic ...
Eleonora Saraceno, Angelo Corso Faini, Silvia Deaglio, Marianna Pellegrini, Raffaele Buganza, Francesca Giuliani, Pier Luigi Calvo, Michele Pinon   +7 more
wiley   +1 more source

Complete chloroplast genome of Triticum aestivum cultivar ‘Keumkang’ from Korea (Poaceae) and comparative chloroplast genomes of the members of the Triticum genus

Journal of the Science of Food and Agriculture, EarlyView.
Abstract BACKGROUND Bread wheat (Triticum aestivum L.) is a major global food crop, and understanding its maternal lineage and genetic diversity is essential for breeding, authentication, and evolutionary studies. Chloroplast genomes provide valuable markers for phylogenetic inference and cultivar discrimination; however, conventional plant DNA ...
Kang‐Rae Kim, Changhyun Choi, Jung Sun Kim, Myung‐Hee Kim, Hwa Jin Jung, DaHye Jeon, Jin‐Hyun Kim   +6 more
wiley   +1 more source

A Genome‐Wide Association Study of Colorectal Cancer Mortality Outcomes Among Individuals of African and Admixture Ancestry

Molecular Carcinogenesis, EarlyView.
ABSTRACT African Americans have the highest colorectal cancer (CRC) mortality rates in the United States. We performed the first genome‐wide association study (GWAS) of overall and CRC‐specific mortality among African Americans with incident CRC to identify genetic contributors to CRC outcomes.
Thomas Lawler, Jirong Long, Rene Welch, Irene Ong, Oluwatoyosi Ogunmuyiwa, Rida A. Khatri, Martha Shrubsole, Shaneda Warren Andersen   +7 more
wiley   +1 more source

Functional Analysis of a Novel FOXL2 Indel Mutation in Chinese Families with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome Type I. [PDF]

Int J Biol Sci, 2017
Chai P, Li F, Fan J, Jia R, Zhang H, Fan X.   +5 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