Results 121 to 130 of about 314 (196)

Diagnostic Odyssey of Atypical Long‐Chain 3‐Hydroxyacyl‐CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2128-2135, September 2026.
ABSTRACT Long‐chain 3‐hydroxyacyl‐CoA dehydrogenase deficiency (LCHADD) is an autosomal recessive mitochondrial defect of long‐chain fatty acid β‐oxidation, caused by biallelic pathogenic variants in HADHA or HADHB. We report a 22‐year‐old male with an atypically mild presentation of LCHADD who was referred to the Undiagnosed Diseases Network (UDN ...
Yutaka Furuta, Lynette C. Rives, T. Andrew Burrow, Thomas A. Cassini, Rory J. Tinker, Amy K. Robertson, Kimberly M. Ezell, Rizwan Hamid, Joy D. Cogan, John A. Phillips III   +9 more
wiley   +1 more source

Response of an Infant With Presumed Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) to Ketone Supplementation

American Journal of Medical Genetics Part A, Volume 200, Issue 9, Page 2140-2150, September 2026.
ABSTRACT Multiple Acyl‐CoA Dehydrogenase Deficiency (MADD) is an autosomal recessive inborn error of metabolism caused by biallelic pathogenic variants in one of three known genes: ETFA, ETFB, and ETFDH. It can cause multisystem dysfunction, including cardiomyopathy in severe cases.
Yutaka Furuta, Kaitlyn N. Bloom, Jerry Vockley, Angela R. Grochowsky, Neena S. Agrawal, Ellen W. Strickler, Natalie N. Owen, Erica T. Gray, B. Lakshitha A. Perera, Eric R. Gamazon, Lynette C. Rives, Hua‐Chang Chen, Qi Liu, Rizwan Hamid, Joy D. Cogan, John A. Phillips III, Thomas A. Cassini, Bryce A. Schuler   +17 more
wiley   +1 more source

Transcriptomic signatures reveal systemic adaptations and immune modulation in response to training and competitive racing in horses

Equine Veterinary Journal, Volume 58, Issue 5, Page 1413-1444, September 2026.
Abstract Background The molecular mechanisms underlying adaptation to physical exertion and racing stress in horses remain incompletely understood. Peripheral blood transcriptomics offers a minimally invasive method to monitor systemic responses to exercise and identify biomarkers of adaptation or overload. Objectives To evaluate transcriptomic changes
Izabela Dąbrowska, Jowita Grzędzicka‐Agko, Paula Kiełbik, Michał Trela, Olga Witkowska‐Piłaszewicz   +4 more
wiley   +1 more source

Cyclins and Cyclin‐Dependent Kinases: Structure, Biological Functions, and Innovative Targeting Strategies in Cancer

MedComm, Volume 7, Issue 9, September 2026.
This work synthesizes recent insights into the pathological roles of cyclins and cyclin‐dependent kinases (CDKs) across human cancers, highlights state‐of‐the‐art innovative approaches (especially targeted degradation and redistribution of CDK/cyclin proteins) for cancer therapy, and outlines future directions for CDK/cyclin‐related biomedical research.
Suya Zheng, Zhipeng Shen, Yuanfang Wu, Xingze Huang, Zhongyuan Zhang, Jiangyu Liu, Qichun Wei, Wenhao Chen, Ye Chen, Liang Xu   +9 more
wiley   +1 more source

Prostate Cancer Development, Progression, and Therapy

MedComm – Oncology, Volume 5, Issue 3, September 2026.
This review provides an integrated overview of prostate cancer development, progression, and therapy, spanning historical milestones, molecular mechanisms, advanced research models, and emerging therapeutic strategies. It highlights recent advances in precision diagnosis, lineage plasticity, therapy resistance, and next‐generation treatments for ...
Xin Jin, Zicheng Xiao, Zexian Ding, Wei Li, Ruijiang Zeng, Yujun Shuai, Weimin Ci, Dan Xia, Xu Zhang, Haojie Huang   +9 more
wiley   +1 more source

Optical mapping reveals a higher level of large‐scale structural variants in a family with paternally transmitted myotonic dystrophy and independent Parkinson's disease

The Journal of Pathology, Volume 270, Issue 1, Page 83-97, September 2026.
Abstract Myotonic dystrophy type 1 (DM1) is a clinically challenging multisystem neuromuscular hereditary disorder, with generational increase in severity and earlier age at onset. It is caused by an unstable cytosine‐thymine‐guanine repeat expansion at the DMPK locus, accompanied by associated genetic and epigenetic modifications.
Md Mehedi Hasan, Jenna Craddock, Tingting Gong, Ruth J Lyons, Igor Stevanovski, Sanjog R Chintalaphani, Ira W Deveson, Weerachai Jaratlerdsiri, Kishore R Kumar, Vanessa M Hayes   +9 more
wiley   +1 more source

Genetic analyses of leaf traits in an interspecific Zoysia japonica × Zoysia matrella F2 population

The Plant Genome, Volume 19, Issue 3, September 2026.
Abstract Zoysiagrass (Zoysia spp.) is an important warm‐season turfgrass cultivated across tropical, subtropical, and temperate regions of the world. The genus is characterized by the presence of salt‐secreting glands on the adaxial leaf surface, which contribute to its high salt tolerance.
Shreena Pradhan, Thomas H. Pendergast IV, John J. Spiekerman, John H. Lagergren, Daniel A. Jacobson, Katrien M. Devos   +5 more
wiley   +1 more source

Integrative genomics and zero‐shot deep learning–based phenotyping reveal the genetic architecture of seed traits in mungbean (Vigna radiata L.)

The Plant Genome, Volume 19, Issue 3, September 2026.
Abstract Improving seed size and weight is a major breeding goal in mungbean (Vigna radiata (L.) R. Wilczek). Improved genomic resources and precision phenotyping may enable more efficient selection for seed trait improvement. In this study, we integrated a deep learning–based segment anything model phenotyping pipeline with genome‐wide association ...
Venkata Naresh Boddepalli, Talukder Zaki Jubery, Steven B. Cannon, Andrew Farmer, Somak Dutta, Baskar Ganapathysubramanian, Arti Singh   +6 more
wiley   +1 more source

MicroRNA‐Driven Regulation of β‐Cell Function in Type 2 Diabetes: Molecular Mechanisms, Network Insights, and Translational Perspectives

Acta Physiologica, Volume 242, Issue 9, September 2026.
ABSTRACT MicroRNAs (miRNAs) have emerged as central regulators of pancreatic islet biology, influencing β‐cell development, proliferation, and function. In type 2 diabetes (T2D), both adaptive and maladaptive miRNA responses shape β‐cell compensation and progressive secretory dysfunction.
Lena Eliasson, Alexandros Karagiannopoulos, Mototsugu Nagao, Anna Wendt   +3 more
wiley   +1 more source

A novel intronic variant ABO*AW allele resulting in weak A expression

Transfusion, EarlyView.
Yujung Jung, Samantha Harris, Shelley Fletcher, Lay See Er, Sunitha Vege, June Fertes, Mohammad Alam, Moritz Stolla, Theresa Nester   +8 more
wiley   +1 more source