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Page 1
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 …
Mutations in the glycosyltransferases modifying Notch have been identified in several diseases, including Dowling-Degos Disease (haploinsuff …
Spondylocostal dysostosis: thirteen new cases treated by conservative and surgical means.
Teli M, Hosalkar H, Gill I, Noordeen H. Teli M, et al. Spine (Phila Pa 1976). 2004 Jul 1;29(13):1447-51. doi: 10.1097/01.brs.0000128761.72844.ab. Spine (Phila Pa 1976). 2004. PMID: 15223937 Review.
STUDY DESIGN: Prospective assessment of a cohort of patients affected by spondylocostal dysostosis. OBJECTIVE: To report on the results of conservative and operative management of spondylocostal dysostosis and, based on this, to propose an assessment a …
STUDY DESIGN: Prospective assessment of a cohort of patients affected by spondylocostal dysostosis. OBJECTIVE: To report on th …
Chest wall hypoplasia--principles and treatment.
Mayer OH. Mayer OH. Paediatr Respir Rev. 2015 Jan;16(1):30-4. doi: 10.1016/j.prrv.2014.10.012. Epub 2014 Nov 5. Paediatr Respir Rev. 2015. PMID: 25434647 Review.
Notch and the skeleton.
Zanotti S, Canalis E. Zanotti S, et al. Mol Cell Biol. 2010 Feb;30(4):886-96. doi: 10.1128/MCB.01285-09. Epub 2009 Dec 7. Mol Cell Biol. 2010. PMID: 19995916 Free PMC article. Review.
Dysregulation of Notch signaling is the underlying cause of diseases affecting the skeletal tissue, including Alagille syndrome, spondylocostal dysostosis, and possibly, osteosarcoma....
Dysregulation of Notch signaling is the underlying cause of diseases affecting the skeletal tissue, including Alagille syndrome, spondylo …
Congenital disorders of glycosylation. Part II. Defects of protein O-glycosylation.
Cylwik B, Lipartowska K, Chrostek L, Gruszewska E. Cylwik B, et al. Acta Biochim Pol. 2013;60(3):361-8. Epub 2013 Sep 19. Acta Biochim Pol. 2013. PMID: 24051442 Review.
We review 8 of the following diseases linked to defects in the synthesis of O-xylosylglycans, O-N acetylgalactosaminylglycans, O-xylosyl/N-acetylglycans, O-mannosylglycans, and O-fucosylglycans: multiple exostoses, progeroid variant of Ehlers-Danlos syndrome, progeria, familial t …
We review 8 of the following diseases linked to defects in the synthesis of O-xylosylglycans, O-N acetylgalactosaminylglycans, O-xylosyl/N-a …
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.
For example, loss of function of Notch results in Adams-Oliver syndrome, Alagille syndrome, spondylocostal dysostosis and congenital heart disorders, while Notch gain of function results in Hajdu-Cheney syndrome, serpentine fibula polycystic kidney syndrome, infanti …
For example, loss of function of Notch results in Adams-Oliver syndrome, Alagille syndrome, spondylocostal dysostosis and cong …
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, Notch …
Genetic mutations in upstream and downstream of Notch signaling genes can lead to a series of metabolic bone diseases, such as Alagille synd …
Controversies surrounding Jarcho-Levin syndrome.
Cornier AS, Ramirez N, Carlo S, Reiss A. Cornier AS, et al. Curr Opin Pediatr. 2003 Dec;15(6):614-20. doi: 10.1097/00008480-200312000-00012. Curr Opin Pediatr. 2003. PMID: 14631208 Review.
PURPOSE OF THE REVIEW: Jarcho-Levin syndrome is an eponym that has been used to describe a variety of clinical phenotypes consisting of short-trunk dwarfism associated with rib and vertebral anomalies. This admixture of phenotypes under Jarcho-Levin …
PURPOSE OF THE REVIEW: Jarcho-Levin syndrome is an eponym that has been used to describe a variety of clinical phenotyp …
Notch signaling in skeletal health and disease.
Zanotti S, Canalis E. Zanotti S, et al. Eur J Endocrinol. 2013 May 8;168(6):R95-103. doi: 10.1530/EJE-13-0115. Print 2013 Jun. Eur J Endocrinol. 2013. PMID: 23554451 Free PMC article. Review.
Inherited or sporadic mutations in components of the Notch signaling pathway are associated with spondylocostal dysostosis, spondylothoracic dysostosis and recessive brachydactyly, diseases characterized by skeletal patterning defects. ...
Inherited or sporadic mutations in components of the Notch signaling pathway are associated with spondylocostal dysostosis, sp …
49 results