Results 161 to 170 of about 54,945 (293)

Electro‐clinical features of Mowat–Wilson syndrome: A retrospective study of 31 children in mainland China

Epileptic Disorders, EarlyView.
Abstract Objective To summarize the electro‐clinical and genetic characteristics of children with Mowat–Wilson syndrome (MWS). Methods This study is a hospital‐based case series analyzing clinical data from 31 pediatric patients with MWS and epilepsy treated at Peking University First Hospital between June 2020 and December 2024.
Yi Ju, Tao‐yun Ji
wiley   +1 more source

Targeting MGAT4A‐Mediated N‐Glycosylation as a Therapeutic Strategy to Inhibit Glioblastoma Stem Cell Invasion

Exploration, EarlyView.
ABSTRACT Glioblastoma (GBM) is the most aggressive type of primary brain tumor, and its invasive properties contribute significantly to incomplete surgical resection and tumor recurrence. Despite extensive clinical efforts to mitigate GBM invasion, targeted therapies against GBM stem cells (GSCs), which drive invasion, remain incompletely understood ...
Rui Niu, Meichen Liu, Qingshan Yang, Jinlong Yin   +3 more
wiley   +1 more source

Genomic and Immune Correlates of EZH2 Expression and Activity in Olfactory Neuroblastoma

Head &Neck, EarlyView.
ABSTRACT Purpose Olfactory neuroblastoma (ONB) is a rare sinonasal malignancy with limited therapeutic options in the recurrent/metastatic setting; little is known regarding its responsiveness to immunotherapy. Inhibition of enhancer of zeste homolog 2 (EZH2) has been shown to improve T‐cell‐mediated killing and susceptibility to immune checkpoint ...
Elisabetta Xue, Tolulope Adeyelu, Harris Krause, Andrew Elliott, Ranee Mehra, Heloisa Soares, Emil Lou, Ari Vanderwalde, David Spetzler, Dara Bracken‐Clarke, Nyall R. London Jr., James L. Gulley, Charalampos S. Floudas   +12 more
wiley   +1 more source

Polygenic risk score and prostate specific antigen predict death from prostate cancer in men with intermediate aggressive cancer

International Journal of Cancer, EarlyView.
What's New? Using 21 SNPs, two novel PRS were constructed and used to develop two new machine‐learning classifiers, one for the detection of prostate cancer and the other for the prediction of its aggressiveness and subsequent mortality. The classifier for disease detection is built using the PRS as the sole feature, whereas the one for disease ...
Leandro Rodrigues Santiago, Efthymios Ladoukakis, Dorota Scibior‐Bentkowska, Belinda Nedjai   +3 more
wiley   +1 more source

Alternatiewe indeling by die sistematiek vir drywingselektroniese mutators

Suid-Afrikaanse Tydskrif vir Natuurwetenskap en Tegnologie, 1983
J. D. Van Wyk, C. G. Steyn
openaire   +2 more sources

Improving genetic diagnosis of hereditary tumor syndromes: From expanded gene panels to functional genomics

International Journal of Cancer, EarlyView.
Abstract Genetic tumor risk syndromes (genturis) contribute substantially to the overall cancer burden and provide opportunities for early detection, prevention, and individualized treatment. Yet, many affected individuals remain undiagnosed due to restrictive testing criteria and challenges in variant interpretation.
Mayra Sauer, Morghan C. Lucas, Vitus Prokosch, Thomas Keßler, Thomas Risch, Andreas Laner, Jan Henkel, Anna Benet‐Pagès, Ariane Hallermayr, Verena Steinke‐Lange, Elke Holinski‐Feder, Barbara Klink   +11 more
wiley   +1 more source

Identification of the Mitf gene mutation causing congenital deafness and pigmentation disorders in porcupines using BSA-Seq

Scientific Reports
Worldwide, congenital deafness and pigmentation disorders impact millions with their diverse manifestations, and among these genetic conditions, mutations in the Microphthalmia-associated transcription factor (MITF: OMIM#156845) gene are notable for ...
Kang Li, Chunmao Huo, Hong Long, Ketong Tang, Shibin Zhang   +4 more
doaj   +1 more source

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

Simulation of CRISPR-Cas9 editing on evolving barcode and accuracy of lineage tracing

Scientific Reports
We designed a simulation program that mimics the CRISPR-Cas9 editing on evolving barcode and double strand break repair procedure along with cell divisions.
Fengshuo Liu, Xiang Zhang, Yipeng Yang
doaj   +1 more source

Metagenomic mining reveals novel Cas12 subtypes and their evolutionary diversification

iMetaOmics, EarlyView.
We identified 4112 Cas12 Proteins and 6 new Cas12 subtypes, revealed their significant diversity in N‐terminal regions, repeat sequences, and sequences motifs. We developed an AI‐driven algorithm, Cas12fam, which allows precise annotation of 18 distinct domains in Cas12 proteins.
Meixia Yu, Zilong Zhao, Peiyang Li, Yunpeng Teng, Feng Xu, Zhimeng Li, Zhijia Yang, Hainan Zhao, Huanbin Zhou, Lanqin Xia, Jinsheng Lai, Beibei Xin   +11 more
wiley   +1 more source