Search results for "WEAVER SYNDROME"
showing 3 items of 3 documents
De Novo and Inherited Pathogenic Variants in KDM3B Cause Intellectual Disability, Short Stature, and Facial Dysmorphism
2019
Contains fulltext : 202646.pdf (Publisher’s version ) (Open Access) By using exome sequencing and a gene matching approach, we identified de novo and inherited pathogenic variants in KDM3B in 14 unrelated individuals and three affected parents with varying degrees of intellectual disability (ID) or developmental delay (DD) and short stature. The individuals share additional phenotypic features that include feeding difficulties in infancy, joint hypermobility, and characteristic facial features such as a wide mouth, a pointed chin, long ears, and a low columella. Notably, two individuals developed cancer, acute myeloid leukemia and Hodgkin lymphoma, in childhood. KDM3B encodes for a histone …
Epigenetic Mechanisms as Key Regulators in Disease
2016
Epigenetics is a rapidly growing field of research which studies the changes in the gene expression that do not involve changes in the nucleotide sequence. The cellular metabolism is directly connected to epigenetic regulation through the inflow of different metabolites such as S-adenosylmethionine, acetyl-CoA, and α-ketoglutarate among others, which serve as substrates or cofactors for chromatin-modifying enzymes. These metabolites define how our lifestyle (i.e., nutrition, physical activity, and other healthy behaviors) acts on gene expression by epigenetic mechanisms. Therefore, proper coordination between components of the epigenetic machineries is essential for the correct control of t…
To die or not to die ? un modèle de la signalisation dichotomique de TNF-R1
2004
1. Kurotaki N, Imaizumi K, Harada N, et al. Haplo insufficiency of NSD1 causes Sotos syndrome. Nature 2002 ; 30 : 305-6. 2. Douglas J, Hanks S, Temple K, et al. NSD1 mutations are the major cause of Sotos syndrome and occur in some cases of Weaver syndrome but are rare in other overgroth phenotypes. Am J Hum Genet 2003 ; 27 : 132-43. 3. Rio M, Clech L, Amiel J, et al. Spectrum of NSD1 mutations in Sotos and Weaver syndromes. J Med Genet 2003 ; 40 : 436-40. 4. Imaizumi K, Kimura J, Matsuo M, et al. Sotos syndrome associated with a de novo balanced reciprocal translocation t(5 ;8)(q35 ;q24.1). Am J Hum Genet 2002 ; 107 : 58-60. 5. Opitz JM, Weaver DW, Reynolds JF. The syndrome of Sotos and We…