scholarly journals Costello syndrome: Clinical phenotype, genotype, and management guidelines

2019 ◽  
Vol 179 (9) ◽  
pp. 1725-1744 ◽  
Author(s):  
Karen W. Gripp ◽  
Lindsey A. Morse ◽  
Marni Axelrad ◽  
Kathryn C. Chatfield ◽  
Aaron Chidekel ◽  
...  
Keyword(s):  
Clinical Phenotype ◽  
Costello Syndrome ◽  
Management Guidelines

Autoantibodies to glycoprotein 2 are associated with the clinical phenotype in Crohn's disease

2014 ◽  
Vol 52 (08) ◽  
Author(s):  
D Roggenbuck ◽  
DP Bogdanos ◽  
D Reinhold ◽  
U von Arnim ◽  
P Malfertheiner ◽  
...  
Keyword(s):  
Crohn’S Disease ◽  
Crohn's Disease ◽  
Clinical Phenotype

Copper-Induced Epigenetic Changes Shape the Clinical Phenotype in Wilson Disease

2020 ◽  
Vol 27 ◽  
Author(s):  
Daniela Fanni ◽  
Clara Gerosa ◽  
Valeria Marina Nurchi ◽  
Rosita Cappai ◽  
Marta Mureddu ◽  
...  
Keyword(s):  
Wilson Disease ◽  
Clinical Presentation ◽  
Clinical Phenotype ◽  
Methylation Status ◽  
Copper Metabolism ◽  
Epigenetic Factors ◽  
Genetic Changes ◽  
Illness Onset ◽  
Phenotypic Manifestation ◽  
Copper Overload

: Wilson disease is a congenital disorder of copper metabolism whose pathogenesis remains, al least in part, unknown. Subjects carrying the same genotype may show completely different phenotypes, differing for the age at illness onset or for the hepatic, neurologic or psychiatric clinical presentation. The inhability to find a unequivocal correlation between the type of mutation in the ATPase copper transporting beta (ATP7B) gene and the phenotypic manifestation, induced many authors to look for epigenetic factors interacting with the genetic changes. Here the evidences regarding the ability of copper overload to change the global DNA methylation status are discussed.

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