Results 91 to 100 of about 453,665 (301)

Lipid Nanoparticles for the Delivery of CRISPR/Cas9 Machinery to Enable Site‐Specific Integration of CFTR and Mutation‐Agnostic Disease Rescue

Advanced Functional Materials, EarlyView.
Lipid nanoparticles (LNPs) are optimized to co‐deliver Cas9‐encoding messenger RNA (mRNA), a single guide RNA (sgRNA) targeting the endogenous cystic fibrosis transmembrane conductance regulator (CFTR) gene, and homologous linear double‐stranded donor DNA (ldsDNA) templates encoding CFTR.
Ruth A. Foley, Paul G. Ayoub, Vrishti Sinha, Colin Juett, Alicia Sanoyca, Emily C. Duggan, Lindsay E. Lathrop, Priyanka Bhatt, Kevin Coote, Beate Illek, Brigitte N. Gomperts, Donald B. Kohn, Steven J. Jonas   +12 more
wiley   +1 more source

Proximal 4p Deletion Syndrome in an Infant With Multiple Systemic Anomalies

Molecular Genetics & Genomic Medicine
Background Contiguous gene deletion in the short arm of chromosome 4 is linked to various neurodevelopmental disorders. Methods In this study, we conducted peripheral blood chromosome G‐banding karyotyping and whole‐exome sequencing (WES) on a proband ...
Ying Pang, Lan Zeng, Hua Liang, Chunlan Cheng, Lihui Shan, Jin Wang, Nanjing Jiang, Guanghuan Pi, Li Yang, Ai Chen, Fu Xiong, Shuyao Zhu   +11 more
doaj   +1 more source

A Case of Chromosome 17q12 Deletion Syndrome with Type 2 Mayer–Rokitansky–Küster–Hauser Syndrome and Maturity-Onset Diabetes of the Young Type 5

Children
Chromosome 17q12 deletion syndrome (OMIM #614527) is a rare genetic disorder associated with a heterozygous 1.4–1.5 Mb deletion at chromosome 17q12, leading to a spectrum of clinical manifestations, including kidney abnormalities, neurodevelopmental ...
Rosie Lee, Jung Eun Choi, Eunji Mun, Kyung hee Kim, Sun Ah Choi, Hae Soon Kim   +5 more
doaj   +1 more source

Persistent Fifth Aortic Arch Associated with 22q11.2 Deletion Syndrome

Journal of the Formosan Medical Association, 2006
Chromosome 22q11.2 deletion is frequently associated with conotruncal malformations and aortic arch anomalies. This study investigated the association of chromosome 22q11.2 deletion with clinical manifestations in four pediatric patients with persistent ...
Meng-Luen Lee
doaj   +1 more source

Copy‐number analysis of Y‐linked loci in young men with non‐obstructive azoospermia: Implications for the rarity of early onset mosaic loss of chromosome Y

Reproductive Medicine and Biology, 2020
Purpose Mosaic loss of chromosome Y (mLOY) is a common feature in elderly men. If mLOY can also occur in young men, it may lead to spermatogenic failure due to loss of spermatogenic genes.
Erina Suzuki, Yoshitomo Kobori, Momori Katsumi, Kikumi Ushijima, Toru Uchiyama, Hiroshi Okada, Mami Miyado, Maki Fukami   +7 more
doaj   +1 more source

Mapping the Cerebral Organoid Landscape: A Systematic Review of Preclinical 3D Models in Neuroscience

Advanced Healthcare Materials, EarlyView.
Cerebral organoids are transforming brain research, yet the field remains fragmented. This comprehensive systematic review maps 738 studies published between 2014 and 2024 to uncover trends, gaps, and opportunities across neuroscience. Introducing OrganoidMap—an interactive, open‐access platform to explore and compare models—this work enables ...
Anna Wolfram, Vanessa Arnold, Maik Wolfram‐Schauerte, Anastassiya Moskalchuk, Caroline Trust, Marie Vontz, Mona Scheurenbrand, Vijayasarathy Sampath‐Kumar, Sogand Ahari, Carlos Romero‐Nieto, Lisa Sevenich   +10 more
wiley   +1 more source

Klinefelter syndrome with long-arm X-chromosome deletion. [PDF]

Adv Lab Med, 2022
Escribano Hernández V, Sanz de Benito MÁ, Carraro Casieri R.   +2 more
europepmc   +1 more source

Pathways and Mechanisms that Prevent Genome Instability in Saccharomyces cerevisiae. [PDF]

, 2017
Genome rearrangements result in mutations that underlie many human diseases, and ongoing genome instability likely contributes to the development of many cancers.
Kolodner, Richard D, Putnam, Christopher D   +1 more
core   +1 more source

Strawberry Notch 1 Acts as a Transcriptional Regulator Driving Oncogenic Programs in Liver Carcinogenesis

Advanced Science, EarlyView.
This study reports that SBNO1 protein is upregulated in several cancer entities. SBNO1 protein interacts with the basal transcription factor TFIID via TAF4, enabling its recruitment to transcription start sites and the modulation of target gene expression.
Sarah Fritzsche, Raisatun Nisa Sugiyanto, Kira Gür, Alina Krumme, Maxime Le Marois, Angelika Fraas, Aslihan Inal, Mario Huerta, Vanessa Henriques, Eva Eiteneuer, Thomas Albrecht, Alphonse Charbel, Michael T. Dill, Carsten Sticht, Carolina De La Torre, Stefan Pusch, Arianeb Mehrabi, Kai Breuhahn, Junfang Ji, Peter Schirmacher, Benjamin Goeppert, Stephanie Roessler   +21 more
wiley   +1 more source

Testicular mRNA‐LNP Delivery: A Novel Therapy for Genetic Spermatogenic Disorders

Advanced Science, EarlyView.
In the current study, we developed a novel therapy for genetic spermatogenic disorders. It was revealed that in vivo delivery of mRNA LNP3 could restore spermatogenesis in Msh5D486Y/D486Y and Maps KO mouse models with meiotic arrest. Notably, the offspring without genomic integration was born using ICSI derived from the rescue of Msh5D486Y/D486Y mouse ...
Chenwang Zhang, Nan Liang, Wenbo Li, Shuai Xu, Peng Li, Wanze Ni, Na Li, Sha Han, Ningjing Ou, Haowei Bai, Yuxiang Zhang, Furong Bai, Yifan Sun, Dewei Qian, Xinjie Bu, Erlei Zhi, Ruhui Tian, Yuhua Huang, Jingpeng Zhao, Fujun Zhao, Hao Chen, Zheng Li, Chencheng Yao   +22 more
wiley   +1 more source