Results 71 to 80 of about 8,531 (188)

Strategies and mechanisms of precision genome engineering: From gene editing to genome writing

iMetaOmics, EarlyView.
In this review, we examined the progression of genome manipulation from stochastic nuclease‐mediated cutting toward precise editing and programmable genome writing. We discussed tools like multi‐kilobase RNA‐guided integrators and Artificial Intelligence (AI)‐designed effectors and showed how these advances enable researchers to treat genomes as ...
Kerui Huang, Jianhong Tian, Wenyan Zhao, Siqin Zhang, Lixuan Xiang, Meiqing Yang, Lu Liu, Yazhou Huang, Ningyun Zhang, Lei Sun, Peng Xie, Nanyu Kuang, Hong Zhou, Chengfeng Qiu, Jun Yan, Xiaocheng Jiang, Qiang Tu, Yun Wang, Haoliang Hu, Youming Zhang   +19 more
wiley   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source

Noncanonical Nucleotides in the Genome Around the Maternal‐Zygotic Transition

Journal of Experimental Zoology Part B: Molecular and Developmental Evolution, EarlyView.
In this paper, Kazzazi et al. provide a comprehensive review of the dynamics of nonconventional nucleotides in the genome during early developmental stages, hypothesizing a potential role for these nucleotides in the activation of the zygotic genome. ABSTRACT From the very moment of fertilization and throughout development, the cells of animal embryos ...
Latifa Kazzazy, Dávid Mező, Kinga K. Nagy, Viktória Perey‐Simon, Judit Tóth, Angéla Békési, Beáta Vértessy, Máté Varga   +7 more
wiley   +1 more source

Multiomics Insights Into AL Amyloidosis

Medicine Bulletin, EarlyView.
ABSTRACT Light chain amyloidosis is a systemic or localized protein conformational disorder triggered by misfolded immunoglobulin light chains, leading to amyloid fibril deposition. The disease is characterized by multiorgan involvement and delayed diagnosis, contributing to poor prognosis and high mortality rates.
Zixuan Zhang, Ziru Huang, Haoxiang Tang, Xianrun Pan, Rong Wang, Dingding Zhang, Jian Huang   +6 more
wiley   +1 more source

Somatic mosaicism by a de novo MLH1 mutation as a cause of Lynch syndrome

Molecular Genetics & Genomic Medicine, 2019
Background Lynch syndrome (LS) is caused by germline mismatch repair (MMR) gene mutations. De novo MMR gene mutations are rare, and somatic mosaicism in LS is thought to be infrequent.
Willemina R. Geurts‐Giele, Efraim H. Rosenberg, Anja van Rens, Monique E. van Leerdam, Winand N. Dinjens, Fonnet E. Bleeker   +5 more
doaj   +1 more source

Prenatal exome sequencing of fetuses with central nervous system anomalies based on prenatal ultrasound and magnetic resonance imaging diagnosis: A retrospective cohort study with a systematic review and meta‐analysis

Acta Obstetricia et Gynecologica Scandinavica, EarlyView.
Prenatal exome sequencing significantly improves diagnostic yield over chromosomal microarray analysis for fetal CNS abnormalities, with a diagnostic yield of 16% in our cohort and 27% in the meta‐analysis. Diagnostic yields vary across different phenotypes. Abstract Introduction Fetal central nervous system (CNS) abnormalities have diverse etiologies,
Jia Yao, Yan Wang, Gang Li, Zhitao Zhang, Yuan Lv, Lizhu Chen   +5 more
wiley   +1 more source

Radial outer retina reflectivity (RORR) sign in LAMP2‐associated retinopathy

Acta Ophthalmologica, EarlyView.
Abstract Purpose To describe the radial outer retina reflectivity (RORR) sign in patients carrying pathogenic variants in the X‐linked lysosome‐associated membrane protein‐2 (LAMP2) gene and to review the histologic characteristics of LAMP2 expression in the human retina.
Rachael C. Heath Jeffery, Bohdan Kousal, Ulrike Grünert, Christine A. Curcio, Svetlana Cherepanoff, Tina M. Lamey, Michel Michaelides, Chrysanthi Tsika, Isabelle Chow, Omar A. Mahroo, Seungmin Lee, Martin Meliska, Milos Kubanek, Jakub Sikora, Siying Lin, Raymond C. B. Wong, Petra Liskova, Fred K. Chen   +17 more
wiley   +1 more source

Mosaic chromosomal alterations and relation to haematological cancer in two large Danish cohorts

British Journal of Haematology, EarlyView.
Summary Mosaic chromosomal alterations (mCAs) are large somatic gains, losses and copy‐neutral loss of heterozygosity identified in the peripheral blood, which represent a relatively unexplored spectrum of clonal haematopoiesis. We aimed to describe mCAs in two large Danish cohorts with extensive long‐term registry‐based follow‐up and examine ...
Cecilie Velsoe Maeng, Pei Meng, Mathias Heldbo, Olafur Davidsson, Morten Munk Johansen, Sigrún Thorsteinsdóttir, Jojo Biel‐Nielsen Dietz, Ragnar Pétur Kristjansson, Ole Birger Vesterager Pedersen, Erik Sørensen, Christian Erikstrup, Christina Mikkelsen, Nanna Brøns, Henrik Ullum, Bitten Aagaard, Mie Topholm Bruun, Estrid Høgdall, DBDS Research Consortium, CHB Research Consortium, Bo Porse, Simon Husby, Sisse R. Ostrowski, Henrik Hjalgrim, Kirsten Grønbæk   +23 more
wiley   +1 more source

Performing Large‐Scale Genetic Analysis in the Bleeding Disorders Community

Haemophilia, EarlyView.
ABSTRACT Inherited bleeding disorders encompass a diverse group of conditions caused by genetic defects affecting coagulation factors, fibrinogen, von Willebrand factor, or platelet function. Despite major advances in quantitative and functional laboratory assays, a substantial diagnostic gap remains, particularly in patients with mild or atypical ...
Anna R. Blankstein, Sterre P. E. Willems, Saskia E. M. Schols, Rosanna Asselta, Gillian Lowe, Neil V. Morgan, Paula D. James   +6 more
wiley   +1 more source

Somatic NLRP3 mosaicism in patients with “mutation-negative” CAPS: insights from a single centre UK cohort

Frontiers in Pediatrics
IntroductionKnowledge about mosaicism in cryopyrin-associated periodic syndromes (CAPS) has expanded significantly with the use of next generation sequencing technologies.
Sonia Melo Gomes, Juan I. Arostegui, Ana Mensa-Vilaro, Ebun Omoyinmi, Ebun Omoyinmi, Ying Hong, Dara McCreary, Dorota Rowczenio, Philip Hawkins, Paul Brogan, Paul Brogan   +10 more
doaj   +1 more source