Results 61 to 70 of about 265 (109)

Yield of Whole Genome Sequencing for Pathogenic Single Nucleotide Variants in Congenital Heart Disease: A Systematic Review and Meta‐Analysis

Prenatal Diagnosis, Volume 46, Issue 5-6, Page 780-818, May 2026.
ABSTRACT Objective This systematic review and meta‐analysis aimed to assess the diagnostic yield of pathogenic or likely pathogenic (P/LP) single nucleotide variants (SNVs) using whole genome sequencing (WGS) in congenital heart disease (CHD). Methods A systematic search of three databases (2000–2024) was conducted, and two reviewers independently ...
Hiba J. Mustafa, Parisa Najjariasl, Faezeh Aghajani, Enaja V. Sambatur, Andrew Rodenbarger, Stephanie Guseh, Amy E. Roberts, Alireza A. Shamshirsaz   +7 more
wiley   +1 more source

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Mediterranean Versus Western Diet Effects on Obesity Phenotypes and Adipose Tissue Transcriptional Profiles in Female Monkeys

Obesity, Volume 34, Issue 3, Page 641-651, March 2026.
ABSTRACT Objective Obesity, or excessive body fat, is a significant health risk factor. Western diets (WD) contribute to metabolic dysfunction and obesity, while Mediterranean diets (MD) improve metabolic health. This study examined the contrasting effects of WD versus MD on visceral and subcutaneous adipose tissues (VAT, SAT) using a randomized ...
Aya Jamal Abusheikha, Corbin S. C. Johnson, Noah Snyder‐Mackler, Kip D. Zimmerman, Brett M. Frye, Carol A. Shively, Thomas C. Register   +6 more
wiley   +1 more source

Microbial metabolites in tumor epigenetic regulation

iMeta, Volume 5, Issue 1, February 2026.
The gut microbiome modulates tumor epigenetic regulation through bioactive metabolites derived from dietary substrates. Microbiota‐produced SCFAs, secondary BAs, one‐carbon metabolites, and tryptophan‐derived ligands regulate histone acetylation, DNA methylation, and chromatin remodeling via HDAC, DNMT, AhR, and metabolic cofactor‐dependent pathways ...
Wangzheqi Zhang, Haoling Zhang, Yan Liao, Shuya Jiang, Haolong Zhang, Chenwei Huang, Zhijing Song, Rui Zhao, Ping Lu, Xiaohong Kang, Eryan Kong, Yalin Zhu, Wei Wang, Xuesong Liu, Yisheng Chen, Zhiwen Luo, Zhaoyu Li, Di Wang, Na Xing, Yadong Guo, Jingjing Zhang, Xiaojing Wang, Wenyi Wang, Mowaffaq Adam, Bakiah Shaharuddin, Muhamad Yusri Musa, Doblin Sandai, Chenglong Zhu, Aimin Jiang, Peng Luo, Zhijie Zhao, Zui Zou   +31 more
wiley   +1 more source

Seamless and Highly Efficient Site‐directed Mutagenesis for Protein, RNA, and Plasmid Engineering

Current Protocols, Volume 6, Issue 1, January 2026.
Abstract Site‐directed mutagenesis is indispensable for protein, RNA, and plasmid engineering. It is ideal to carry out such mutagenesis at an efficiency close to 100%, but many current methods fail to reach this goal and thus require extensive screening efforts.
Xiang‐Jiao Yang
wiley   +1 more source

Three Unrelated Children With Childhood Apraxia of Speech: Exome Sequencing and Functional Gene Analysis Imply a Role of Laminin‐511 in Early Neurodevelopment

Case Reports in Genetics, Volume 2026, Issue 1, 2026.
Childhood apraxia of speech (CAS) is characterized by motor discoordination in the speech domain and also in fine and gross motor systems, implicating the early developing cerebellum. Comorbidity with autism spectrum disorder (ASD) and other neurodevelopmental conditions has been observed. The genetic etiology is highly heterogeneous.
Caitlin Raaz, Laurel Bruce, Madhavi Ganapathiraju, Judith Klein-Seetharaman, Li Liu, Valentin Dinu, Marjan Chapi, Eunhyo Kim, Yookyung Kim, Tiffanie White, Beate Peter, Balraj Mittal   +11 more
wiley   +1 more source

High‐Affinity Peptide‐Drug Conjugate Ligands for the TRIM24 PHD and Bromodomain

Chemistry – A European Journal, Volume 31, Issue 72, December 23, 2025.
We report a series of bivalent peptide‐drug conjugate (PDC) ligands for tripartite motif‐containing protein 24 (TRIM24). These ligands simultaneously engage the PHD and BRD of TRIM24 through an intramolecular (in cis) binding mode, resulting in high affinity binding.
Michael A. Platt, Ekaterina Kot, Louise A. W. Martin, Antoine L. D. Wallabrègue, Liwen Song, Alistair M. Boyd, Lizbé Koekemoer, Ester M. Hammond, Stuart J. Conway   +8 more
wiley   +1 more source

Lysine Acetyltransferase 6 in Health and Disease

MedComm, Volume 6, Issue 12, December 2025.
KAT6A and its paralog KAT6B have emerged as druggable targets for the treatment of malignancies, especially for breast cancer. Recent progress in drug discovery has promoted the development of dual inhibitors targeting KAT6A and KTA6B, which shows potent antitumor efficacy and manageable toxicity.
Yujing Tan, Jiani Wang, Fei Ma
wiley   +1 more source

Distinct roles of the JADE and BRPF scaffolding subunits of the acetyltransferase HBO1 complex

Nature Communications
The human acetyltransferase complex HBO1 is implicated in cancer and developmental diseases. Here, we report the chromatin association mechanisms for scaffolding subunits of the complex, the JADE and BRPF paralogs.
Nitika Gaurav, Lena K. Ebert, Catherine Lachance, Karthik Selvam, Ruo-Wen Chen, Weihua Qin, Vasilisa Pozharskaia, Congwu Chi, Valérie Côté, Khan L. Cox, Harrison A. Fuchs, Catherine A. Musselman, Heinrich Leonhardt, Núria Morral, Kunhua Song, Michael G. Poirier, Jacques Côté, Bernhard Schermer, Tatiana G. Kutateladze   +18 more
doaj   +1 more source

Establishment and molecular profiling of a PDX model of a metachronous brain tumor in a patient with constitutional mismatch repair deficiency with biallelic MSH6 variant

Animal Models and Experimental Medicine, Volume 8, Issue 11, Page 1971-1982, November 2025.
A 6½‐year‐old girl was diagnosed with a medulloblastoma, SHH activated, subtype 3 and TP53 mutant (somatic). After surgery and chemotherapy, she was monitored with quarterly magnetic resonance imaging (MRI) scans and remained free of disease for almost 4 years.
Daniel Antunes Moreno, Bruna Minniti Mançano, Mirella Baroni, Eric Allison Philot, Felipe Antonio de Oliveira Garcia, Murilo Bonatelli, Flávia Escremim de Paula, Iara Viana Vidigal Santana, Gustavo Ramos Teixeira, Mauricio Yamanari, Luciane Sussuchi da Silva, André Escremim de Paula, Augusto Perazzolo Antoniazzi, Adrian Willig, Xiaobin Xing, Zhenyu Xu, Lucas Lourenço, Carlos Almeida Junior, Silvia Aparecida Teixeira, Rui Manuel Reis   +19 more
wiley   +1 more source