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Diseases related to Notch glycosylation.
Matsumoto K, Luther KB, Haltiwanger RS. Matsumoto K, et al. Mol Aspects Med. 2021 Jun;79:100938. doi: 10.1016/j.mam.2020.100938. Epub 2020 Dec 16. Mol Aspects Med. 2021. PMID: 33341260 Review.
Mutations in the glycosyltransferases modifying Notch have been identified in several diseases, including Dowling-Degos Disease (haploinsufficiency of POFUT1 or POGLUT1), a form of limb-girdle muscular dystrophy (autosomal recessive mutations in POGLUT1), Spondylocostal Dysostosi …
Mutations in the glycosyltransferases modifying Notch have been identified in several diseases, including Dowling-Degos Disease (haploinsuff …
Case report and review of literature of a rare congenital disorder: Adams-Oliver syndrome.
Suarez E, Bertoli MJ, Eloy JD, Shah SP. Suarez E, et al. BMC Anesthesiol. 2021 Apr 15;21(1):117. doi: 10.1186/s12871-021-01339-0. BMC Anesthesiol. 2021. PMID: 33858352 Free PMC article. Review.
BACKGROUND: Adams-Oliver syndrome is characterized by the combination of congenital scalp defects and terminal transverse limb defects. ...Little is written with regards to the anesthetic management and airway concerns of patients with Adams-Oliver
BACKGROUND: Adams-Oliver syndrome is characterized by the combination of congenital scalp defects and terminal transver …
Congenital scalp defects: Adams-Oliver syndrome. A case report and review of the literature.
Arand AG, Ball WS, Crone KR. Arand AG, et al. Pediatr Neurosurg. 1991-1992;17(4):203-7. doi: 10.1159/000120598. Pediatr Neurosurg. 1991. PMID: 1822137 Review.
First described 160 years ago, ACC is recognized as a heterogenous group of disorders all having focal absence of scalp. Type III ACC, Adams-Oliver syndrome, consists of a scalp defect associated with a distal limb anomaly. ...Larger lesions associated with u …
First described 160 years ago, ACC is recognized as a heterogenous group of disorders all having focal absence of scalp. Type III ACC, Ad
The developmental biology of genetic Notch disorders.
Mašek J, Andersson ER. Mašek J, et al. Development. 2017 May 15;144(10):1743-1763. doi: 10.1242/dev.148007. Development. 2017. PMID: 28512196 Review.
It is therefore not surprising that mutations in genes encoding Notch receptors or ligands lead to a variety of congenital disorders in humans. For example, loss of function of Notch results in Adams-Oliver syndrome, Alagille syndrome, spondylocostal dysostos …
It is therefore not surprising that mutations in genes encoding Notch receptors or ligands lead to a variety of congenital disorders in huma …
Structure and function of extracellular O-GlcNAc.
Ogawa M, Okajima T. Ogawa M, et al. Curr Opin Struct Biol. 2019 Jun;56:72-77. doi: 10.1016/j.sbi.2018.12.002. Epub 2019 Jan 19. Curr Opin Struct Biol. 2019. PMID: 30669087 Review.
In humans, EOGT is one of the causative genes of a congenital disease, Adams-Oliver syndrome. EOGT is highly expressed in endothelial cells and regulates vascular development and integrity by potentiating Delta-like ligand-mediated Notch signaling. ...
In humans, EOGT is one of the causative genes of a congenital disease, Adams-Oliver syndrome. EOGT is highly expressed …
Adams-Oliver syndrome review of the literature: Refining the diagnostic phenotype.
Hassed S, Li S, Mulvihill J, Aston C, Palmer S. Hassed S, et al. Am J Med Genet A. 2017 Mar;173(3):790-800. doi: 10.1002/ajmg.a.37889. Epub 2017 Feb 4. Am J Med Genet A. 2017. PMID: 28160419 Review.
The Adams-Oliver syndrome (AOS) is defined as aplasia cutis congenita (ACC) with transverse terminal limb defects (TTLD). ...
The Adams-Oliver syndrome (AOS) is defined as aplasia cutis congenita (ACC) with transverse terminal limb defects (TTLD …
Adams-Oliver syndrome revisited.
Whitley CB, Gorlin RJ. Whitley CB, et al. Am J Med Genet. 1991 Sep 1;40(3):319-26. doi: 10.1002/ajmg.1320400315. Am J Med Genet. 1991. PMID: 1951437 Review.
The occurrence of Adams-Oliver syndrome in a patient from the same geographic area as the first reported kindred led to follow-up of the original family, and to a survey of the literature. ...Despite a phenotypic resemblance to isolated aplasia cutis congenit …
The occurrence of Adams-Oliver syndrome in a patient from the same geographic area as the first reported kindred led to …
Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease.
Meester JAN, Verstraeten A, Alaerts M, Schepers D, Van Laer L, Loeys BL. Meester JAN, et al. Clin Genet. 2019 Jan;95(1):85-94. doi: 10.1111/cge.13382. Epub 2018 Jun 10. Clin Genet. 2019. PMID: 29767458 Review.
NOTCH1 mutations have been described in bicuspid aortic valve disease, left-sided congenital heart disease, and Adams-Oliver syndrome. NOTCH2 mutations lead to the development of Alagille syndrome, while mutations in NOTCH3 cause cerebral autosomal dominant a …
NOTCH1 mutations have been described in bicuspid aortic valve disease, left-sided congenital heart disease, and Adams-Oliver
EOGT and O-GlcNAc on secreted and membrane proteins.
Varshney S, Stanley P. Varshney S, et al. Biochem Soc Trans. 2017 Apr 15;45(2):401-408. doi: 10.1042/BST20160165. Biochem Soc Trans. 2017. PMID: 28408480 Free PMC article. Review.
The present review will describe known substrates of EOGT and biological roles for EOGT in Drosophila and humans. Mutations in EOGT that give rise to Adams-Oliver Syndrome in humans will also be discussed....
The present review will describe known substrates of EOGT and biological roles for EOGT in Drosophila and humans. Mutations in EOGT that giv …
The role of Notch signaling pathway in metabolic bone diseases.
Gao Y, Fu Z, Guan J, Liu X, Zhang Q. Gao Y, et al. Biochem Pharmacol. 2023 Jan;207:115377. doi: 10.1016/j.bcp.2022.115377. Epub 2022 Dec 10. Biochem Pharmacol. 2023. PMID: 36513140 Review.
Genetic mutations in upstream and downstream of Notch signaling genes can lead to a series of metabolic bone diseases, such as Alagille syndrome, Adams-Oliver syndrome and spondylocostal dysostosis. In this review, we analyzed the mechanisms of Notch ligands, …
Genetic mutations in upstream and downstream of Notch signaling genes can lead to a series of metabolic bone diseases, such as Alagille synd …
39 results