Results 131 to 140 of about 224,524 (254)

Mastering DNA chromatogram analysis in Sanger sequencing for reliable clinical analysis. [PDF]

J Genet Eng Biotechnol, 2023
Al-Shuhaib MBS, Hashim HO.
europepmc   +1 more source

CRISPR‐Scan: Cas13a Mismatch Tolerance Enabled Ultra‐Multiplexed Detection of Same‐Site Indels in Acute Myeloid Leukemia

Advanced Science, EarlyView.
Accurately detecting diverse same‐locus insertions or deletions (indels) remains challenging. This study reveals the mismatch‐tolerance profile of LwaCas13a and establishes CRISPR‐Scan, which uses a single crRNA to detect multiple same‐locus indels. The one‐pot assay detects nucleophosmin 1 (NPM1) mutant allele frequencies down to 0.01%, agrees with ...
Linlin Bai, Bei Wang, Mingmin Shi, Dianwei Liu, Huimin Ji, Ting Wang, Ziwei Wang, Kaiming Guo, Xinyang Dou, Chunyan Qian, Fang Zhang, Yongming Wang, Hongju Mao, Rui Wang   +13 more
wiley   +1 more source

Sequence-Specific Primer Polymerase Chain Reaction Genotyping of the Human IL33 Polymorphism rs1929992 (T > C) with Sanger Sequencing Validation. [PDF]

Curr Protoc
Yamanaka AHU, Castellani G, Braga M, de Alencar JB, Silva LCA, de Lima Neto QA.   +5 more
europepmc   +1 more source

Disabling COMPASS Promoter Licensing Shifts HDAC‐Inhibited Gastric Cancer Toward Sustained Transcriptional Suppression During Recovery

Advanced Science, EarlyView.
Combined inhibition of the WDR5 WIN pocket and HDAC activity converts SAHA‐induced hyperacetylation into a promoter state with reduced WDR5–COMPASS association and H3K4me3. MYC/E2F‐linked nascent transcription and biosynthetic recovery are suppressed, while apoptosis and senescence‐like features increase, resulting in sustained growth inhibition in ...
Jintian Song, Hui Yu, Jianping Jiang, Zhihui Jiang, Zhongshi Hong, Xu Zhang, Luchuan Chen, Shenghong Wei, Yi Wang   +8 more
wiley   +1 more source

Short-Read NGS of a Long-Range <i>CYP21A2</i> Amplicon as an Improved Alternative to Sanger Sequencing for Congenital Adrenal Hyperplasia Genetic Testing. [PDF]

Int J Mol Sci
Antysheva Z, Bogdanov V, Rutkovskaya E, Stepanova A, Esibov A, Krupinova J, Shchekina V, Avsievich E, Frolova T, Bazarova E, Demina E, Sharibzhanova E, Bodunova N, Petryaykina E, Petriaikina E, Ivashechkin A, Katcaran Y, Bukhanova A, Yudin V, Keskinov A, Yudin S, Svetlichnyy D, Woroncow M, Skvortsova V, Volchkov P.   +24 more
europepmc   +1 more source

Targeting Macrophage STING O‐GlcNAcylation via Small‐Molecule Allosteric Modulation for Psoriasis Therapy

Advanced Science, EarlyView.
Paeoniflorin allosterically targets the STING cyclic dinucleotide‐binding domain, stabilizes an inactive open conformation, and disrupts STING–OGT interaction to reduce Thr229 O‐GlcNAcylation and downstream signaling. This mechanism restrains myeloid STING activation, alleviates psoriasis‐like inflammation, and is supported by analyses of patient ...
Fang‐Fang Zhuo, Cheng‐Chen Hou, Wei Wang, Ya‐Xuan Zhu, Ling Li, Li‐Juan Liu, Chuan‐Jian Lu, Peng‐Fei Tu, Yang Liu, Rui‐Zhi Zhao, Ke‐Wu Zeng   +10 more
wiley   +1 more source

Autism and mild epilepsy associated with a de novo missense pathogenic variant in the GTPase effector domain of DNM1

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView., 2023
Abstract Dynamin 1 is a GTPase protein involved in synaptic vesicle fission, which facilitates the exocytosis of neurotransmitters necessary for normal signaling. Pathogenic variants in the DNM1 gene are associated with intractable epilepsy, often manifested as infantile spasms at onset, developmental delay, and a movement disorder, and are located in ...
Davide Mei, Elena Parrini, Claudia Bianchini, Maria Luisa Ricci, Renzo Guerrini   +4 more
wiley   +1 more source

Long-Read, High-Resolution Sanger Sequencing by Micelle-Tagging Electrophoresis. [PDF]

Electrophoresis
Gamble R, Wenz HM, Mullah B, Schneider JW.   +3 more
europepmc   +1 more source

PHFinder: assisted detection of point heteroplasmy in Sanger sequencing chromatograms. [PDF]

PeerJ, 2023
Suárez Menéndez M, Rivera-León VE, Robbins J, Berube M, Palsbøll PJ.   +4 more
europepmc   +1 more source

Thioredoxin‐2 Alleviates Osteoporosis by Restraining FOXO3a Nuclear Translocation

Advanced Science, EarlyView.
Endothelial TRX2 preserves bone homeostasis by retaining FOXO3a at mitochondria and limiting TRAIL production. Loss of TRX2 or oxidative stress releases FOXO3a for nuclear translocation, increasing endothelial TRAIL secretion and driving osteoclast formation and bone loss.
Chi Zhan, Zhaocai Zhou, Yue Ding, Rong Lian, Xinyu Li, Xintong Zhang, Jie Cao, Zhonghui Tang, Zhengmei Lin, Zhi Song, Feng He   +10 more
wiley   +1 more source