Results 191 to 200 of about 204,351 (287)

Diverse reference genomes detect variants in the US winter wheat

The Plant Genome, Volume 19, Issue 1, March 2026.
Abstract The first hexaploid bread wheat reference genome from Chinese Spring was released in 2018 by the International Wheat Genome Sequencing Consortium and is considered as the industry standard reference. To explore the effects of different reference genomes on variant discovery, 29 hexaploid bread wheat (Triticum aestivum L.) cultivars from the ...
Kyle Parker, Zhen Wang, Yahya Rauf, Liangliang Gao, Jesse Poland, Jackie Rudd, Amir Ibrahim, Shuyu Liu   +7 more
wiley   +1 more source

Case series: a rare dominant form of β-thalassemia successfully treated by luspatercept. [PDF]

Ann Hematol
Allard PN, Kulozik AE, Kunz JB.
europepmc   +1 more source

The enigmatic case of Lipoptena sp. in the Bosco della Mesola Nature Reserve (Italy)

Medical and Veterinary Entomology, Volume 40, Issue 1, Page 82-90, March 2026.
This is the first report of Lipoptena andaluciensis in Italy, confirmed morphologically and genetically. The presence of L. andaluciensis in Italy dates back many years; it was found on cervids in lowland habitats. A re‐examination of the previous report of the Italian L. fortisetosa is needed.
Federica Usai, Filippo Maria Dini, Ilaria Guarniero, Enrica Bellinello, Laura Stancampiano   +4 more
wiley   +1 more source

Oncogenic NRAS Mutation in Incipient Sarcomatous Transformation of Cystic Nephroma From a Patient With DICER1‐Related Tumor Predisposition Syndrome

Pediatric Blood &Cancer, Volume 73, Issue 2, February 2026.
ABSTRACT Anaplastic sarcoma of the kidney (ASK) is a DICER1‐associated malignant tumor presumed to arise in a benign precursor, pediatric cystic nephroma (PCN). However, the initial oncogenic alteration(s) associated with malignant transformation are unknown.
Nahir Cortes‐Santiago, Sarah B. Whittle, Sarah Scollon, Sharon E. Plon, Sanjeev Vasudevan, Bryony J. Lucas, Angshumoy Roy   +6 more
wiley   +1 more source

A nonsense mutation in the PRKG2 gene in dalmatian dogs with chondrodysplasia. [PDF]

PLoS One
Mäkeläinen S, Ekman S, Hytönen MK, Lohi H, Kyöstilä K, Simon T, Andersson G, Hedhammar Å, Hansson K, Bergström TF.   +9 more
europepmc   +1 more source

A Patient‐Derived Organoid Biobank of Adamantinomatous Craniopharyngioma as a Platform for Drug Discovery

Advanced Science, Volume 13, Issue 7, 3 February 2026.
This study successfully establishes adamantinomatous craniopharyngioma (ACP) patient‐derived organoids (PDOs) that preserve the histopathological and genetic features of the original tumors. Through drug sensitivity assays and subsequent mechanistic analyses, the study demonstrates that Ceritinib exerts its inhibitory effects on ACP PDO growth by ...
Huarong Zhang, Chaohu Wang, Jun Fan, Zexin Chen, Haoying Yu, Yawen Bai, Tingcheng Zhang, Qianchao Zhu, Yiwen Feng, Peirong Niu, Jiaqian Chen, Liping Yang, Xueying Li, Lei Yu, Songtao Qi, Yi Liu   +15 more
wiley   +1 more source

ENSURE: the encyclopedia of suppressor tRNA with an AI assistant. [PDF]

Nucleic Acids Res
Ouyang Z, Zhang Y, Feng F, Zeng X, Wu Q, Hafeez A, Teng W, Kong Y, Bu X, Sun Y, Li B, Wen Y, Lun ZR, Qu L, Feng X, Zheng L.   +15 more
europepmc   +1 more source

De Novo Heterozygous ZFX Frameshift Variant in a Female With an X‐Linked Neurodevelopmental Disorder

American Journal of Medical Genetics Part A, Volume 200, Issue 2, Page 521-530, February 2026.
ABSTRACT Germline ZFX variants are associated with an X‐linked neurodevelopmental disorder, with 14 males and 16 females reported to date. We describe a 20‐year‐old female with a heterozygous ZFX frameshift variant, p.(Met666Valfs*2), identified by genome sequencing, previously reported in an affected male.
Iftekhar A. Showpnil, Allison Daley, Emily R. Sites, Shayne M. Plourde, Jesse M. Hunter, Dennis W. Bartholomew, April N. Lehman, Daniel C. Koboldt, Rolf W. Stottmann   +8 more
wiley   +1 more source

GenBlosum: On Determining Whether Cancer Mutations Are Functional or Random. [PDF]

Genes (Basel)
Leyva A, Khan Niazi MK.
europepmc   +1 more source

Mechanism of PTC124 activity in cell-based luciferase assays of nonsense codon suppression

Proceedings of the National Academy of Sciences of the United States of America, 2009
D. Auld, Natasha Thorne, W. Maguire, James Inglese   +3 more
semanticscholar   +1 more source