Putative Roles of SETBP1 Dosage on the SET Oncogene to Affect Brain Development
Mutations in SET BINDING PROTEIN 1 (SETBP1) cause two different clinically distinguishable diseases called Schinzel–Giedion syndrome (SGS) or SETBP1 deficiency syndrome (SDD). Both disorders are disorders of protein dosage, where SGS is caused by decreased rate of protein breakdown due to mutations...
Main Authors: | Lilit Antonyan, Carl Ernst |
---|---|
Format: | Article |
Language: | English |
Published: |
Frontiers Media S.A.
2022-05-01
|
Series: | Frontiers in Neuroscience |
Subjects: | |
Online Access: | https://www.frontiersin.org/articles/10.3389/fnins.2022.813430/full |
Similar Items
-
Detection of a novel SETBP1 variant in a Chinese neonate with Schinzel–Giedion syndrome
by: Hansong Yang, et al.
Published: (2022-09-01) -
The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate
by: Maria Pia Leone, et al.
Published: (2020-05-01) -
Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis
by: Hongdan Wang, et al.
Published: (2023-05-01) -
World-Renowned “Swiss” Pediatricians, Their Syndromes, and Matching Imaging Findings: A Historical Perspective
by: Laura M. Huisman, et al.
Published: (2023-10-01) -
Schinzel-Giedion syndrome: a case with sacrococcygeal teratoma and cor-triatriatum dexter
by: Lofty-John Anyanwu, et al.
Published: (2017-01-01)