Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2021 1
2022 37
2023 37
2024 11

Text availability

Article attribute

Article type

Publication date

Search Results

78 results

Results by year

Filters applied: . Clear all
Page 1
Lysine 2-hydroxyisobutyrylation of NAT10 promotes cancer metastasis in an ac4C-dependent manner.
Liao L, He Y, Li SJ, Yu XM, Liu ZC, Liang YY, Yang H, Yang J, Zhang GG, Deng CM, Wei X, Zhu YD, Xu TY, Zheng CC, Cheng C, Li A, Li ZG, Liu JB, Li B. Liao L, et al. Cell Res. 2023 May;33(5):355-371. doi: 10.1038/s41422-023-00793-4. Epub 2023 Mar 8. Cell Res. 2023. PMID: 36882514
Mechanistically, NAT10 Khib modification enhances its interaction with deubiquitinase USP39, resulting in increased NAT10 protein stability. NAT10 in turn promotes metastasis by increasing NOTCH3 mRNA stability in an N4-acetylcytidine-dependent manner. Furthermore, we disc …
Mechanistically, NAT10 Khib modification enhances its interaction with deubiquitinase USP39, resulting in increased NAT10 protein stability. …
Key Genetic Determinants Driving Esophageal Squamous Cell Carcinoma Initiation and Immune Evasion.
Ko KP, Huang Y, Zhang S, Zou G, Kim B, Zhang J, Jun S, Martin C, Dunbar KJ, Efe G, Rustgi AK, Nakagawa H, Park JI. Ko KP, et al. Gastroenterology. 2023 Sep;165(3):613-628.e20. doi: 10.1053/j.gastro.2023.05.030. Epub 2023 May 29. Gastroenterology. 2023. PMID: 37257519
METHODS: Using CRISPR/Cas 9-based genetic ablation, we targeted 9 genes (TP53, CDKN2A, NOTCH1, NOTCH3, KMT2D, KMT2C, FAT1, FAT4, and AJUBA) in murine esophageal organoids. ...
METHODS: Using CRISPR/Cas 9-based genetic ablation, we targeted 9 genes (TP53, CDKN2A, NOTCH1, NOTCH3, KMT2D, KMT2C, FAT1, FAT4, and …
Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.
Welch CL, Aldred MA, Balachandar S, Dooijes D, Eichstaedt CA, Gräf S, Houweling AC, Machado RD, Pandya D, Prapa M, Shaukat M, Southgate L, Tenorio-Castano J; ClinGen PH VCEP; Chung WK; International Consortium for Genetic Studies in Pulmonary Arterial Hypertension (PAH-ICON) at the Pulmonary Vascular Research Institute (PVRI). Welch CL, et al. Genet Med. 2023 Nov;25(11):100925. doi: 10.1016/j.gim.2023.100925. Epub 2023 Jul 5. Genet Med. 2023. PMID: 37422716
TOPBP1 was classified as having no known PAH relationship. Five genes (BMPR1A, BMPR1B, NOTCH3, SMAD1, and SMAD4) were disputed because of a paucity of genetic evidence over time. ...
TOPBP1 was classified as having no known PAH relationship. Five genes (BMPR1A, BMPR1B, NOTCH3, SMAD1, and SMAD4) were disputed becaus …
The genetic and phenotypic spectra of adult genetic leukoencephalopathies in a cohort of 309 patients.
Wu C, Wang M, Wang X, Li W, Li S, Chen B, Niu S, Tai H, Pan H, Zhang Z. Wu C, et al. Brain. 2023 Jun 1;146(6):2364-2376. doi: 10.1093/brain/awac426. Brain. 2023. PMID: 36380532 Free PMC article.
The most frequent diseases were leukoencephalopathies related to NOTCH3 (25%), NOTCH2NLC (19%), ABCD1 (9%), CSF1R (7%) and HTRA1 (5%). ...We characterized the genetic and phenotypic spectra of adult gLEs in a large Chinese cohort. The most frequently mutated genes were …
The most frequent diseases were leukoencephalopathies related to NOTCH3 (25%), NOTCH2NLC (19%), ABCD1 (9%), CSF1R (7%) and HTRA1 (5%) …
Prevalence of Mutations in Mendelian Stroke Genes in Early Onset Stroke Patients.
Park HK, Lee KJ, Park JM, Kang K, Lee SJ, Kim JG, Cha JK, Kim DH, Han MK, Kang J, Kim BJ, Park TH, Park MS, Lee KB, Lee J, Hong KS, Cho YJ, Lee BC, Yu KH, Oh MS, Kim JT, Choi KH, Kim DE, Ryu WS, Choi JC, Kwon JH, Kim WJ, Shin DI, Sohn SI, Hong JH, Lee J, Lee K, Song J, Bae JS, Cheong HS, Debette S, Bae HJ. Park HK, et al. Ann Neurol. 2023 Apr;93(4):768-782. doi: 10.1002/ana.26575. Epub 2023 Jan 16. Ann Neurol. 2023. PMID: 36541592
We identified clinically relevant genetic variants (CRGVs) in 15 Mendelian stroke genes (GLA, NOTCH3, HTRA1, RNF213, ACVRL1, ENG, CBS, TREX1, ABCC6, COL4A1, FBN1, NF1, COL3A1, MT-TL1, and APP) using a customized, targeted next generation sequencing panel. ...It also differ …
We identified clinically relevant genetic variants (CRGVs) in 15 Mendelian stroke genes (GLA, NOTCH3, HTRA1, RNF213, ACVRL1, ENG, CBS …
Genotype and Phenotype Differences in CADASIL from an Asian Perspective.
Kim Y, Bae JS, Lee JY, Song HK, Lee JH, Lee M, Kim C, Lee SH. Kim Y, et al. Int J Mol Sci. 2022 Sep 29;23(19):11506. doi: 10.3390/ijms231911506. Int J Mol Sci. 2022. PMID: 36232798 Free PMC article. Review.
Both ethnicity and founder effects contribute to these differences in the clinical NOTCH3 spectrum in different cohorts. More functional investigations from diverse races are needed to clarify unknown but novel variants of NOTCH3 mutations. This review may broaden t …
Both ethnicity and founder effects contribute to these differences in the clinical NOTCH3 spectrum in different cohorts. More functio …
Three-tiered EGFr domain risk stratification for individualized NOTCH3-small vessel disease prediction.
Hack RJ, Gravesteijn G, Cerfontaine MN, Santcroos MA, Gatti L, Kopczak A, Bersano A, Duering M, Rutten JW, Lesnik Oberstein SAJ. Hack RJ, et al. Brain. 2023 Jul 3;146(7):2913-2927. doi: 10.1093/brain/awac486. Brain. 2023. PMID: 36535904 Free PMC article.
Cysteine-altering missense variants (NOTCH3cys) in one of the 34 epidermal growth-factor-like repeat (EGFr) domains of the NOTCH3 protein are the cause of NOTCH3-associated small vessel disease (NOTCH3-SVD). ...This EGFr risk classification will provide an im …
Cysteine-altering missense variants (NOTCH3cys) in one of the 34 epidermal growth-factor-like repeat (EGFr) domains of the NOTCH3 pro …
Management of Inherited CNS Small Vessel Diseases: The CADASIL Example: A Scientific Statement From the American Heart Association.
Meschia JF, Worrall BB, Elahi FM, Ross OA, Wang MM, Goldstein ED, Rost NS, Majersik JJ, Gutierrez J; American Heart Association Stroke Council; Council on Cardiovascular and Stroke Nursing; Council on Clinical Cardiology; and Council on Hypertension. Meschia JF, et al. Stroke. 2023 Oct;54(10):e452-e464. doi: 10.1161/STR.0000000000000444. Epub 2023 Aug 21. Stroke. 2023. PMID: 37602377 Free article.
Individuals with the disease show variability in the nature and onset of symptoms and rates of progression, which are only partially explained by differences in pathogenic mutations in the NOTCH3 gene. Recognizing the disease early in its course and securing a molecular di …
Individuals with the disease show variability in the nature and onset of symptoms and rates of progression, which are only partially explain …
Genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients in different populations.
Ni W, Zhang Y, Zhang L, Xie JJ, Li HF, Wu ZY. Ni W, et al. CNS Neurosci Ther. 2022 Nov;28(11):1779-1789. doi: 10.1111/cns.13917. Epub 2022 Jul 13. CNS Neurosci Ther. 2022. PMID: 35822697 Free PMC article.
AIMS: The aim of the study was to clarify genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients. METHODS: Suspected CADASIL patients were collected by our center between 2016 and 2021. Whole exome sequencing was performed to screen NOTCH3 mutations o …
AIMS: The aim of the study was to clarify genetic spectrum of NOTCH3 and clinical phenotype of CADASIL patients. METHODS: Suspected C …
78 results