SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability
E Bogaert, A Garde, T Gautier, K Rooney… - The American Journal of …, 2023 - cell.com
SRSF1 (also known as ASF/SF2) is a non-small nuclear ribonucleoprotein (non-snRNP) that
belongs to the arginine/serine (R/S) domain family. It recognizes and binds to mRNA …
belongs to the arginine/serine (R/S) domain family. It recognizes and binds to mRNA …
Comprehensive EHMT1 variants analysis broadens genotype-phenotype associations and molecular mechanisms in Kleefstra syndrome
D Rots, A Bouman, A Yamada, M Levy… - The American Journal of …, 2024 - cell.com
The shift to a genotype-first approach in genetic diagnostics has revolutionized our
understanding of neurodevelopmental disorders, expanding both their molecular and …
understanding of neurodevelopmental disorders, expanding both their molecular and …
DNA methylation signatures for chromatinopathies: current challenges and future applications
Z Awamleh, S Goodman, S Choufani, R Weksberg - Human Genetics, 2024 - Springer
Pathogenic variants in genes that encode epigenetic regulators are the cause for more than
100 rare neurodevelopmental syndromes also termed “chromatinopathies”. DNA …
100 rare neurodevelopmental syndromes also termed “chromatinopathies”. DNA …
Identification of a DNA methylation episignature for recurrent constellations of embryonic malformations
S Haghshenas, K Karimi, RE Stevenson… - The American Journal of …, 2024 - cell.com
The term" recurrent constellations of embryonic malformations"(RCEM) is used to describe a
number of multiple malformation associations that affect three or more body structures. The …
number of multiple malformation associations that affect three or more body structures. The …
Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles
S Haghshenas, HJ Bout, JM Schijns, MA Levy… - Human Genetics and …, 2024 - cell.com
CREB-binding protein (CBP, encoded by CREBBP) and its paralog E1A-associated protein
(p300, encoded by EP300) are involved in histone acetylation and transcriptional regulation …
(p300, encoded by EP300) are involved in histone acetylation and transcriptional regulation …
[PDF][PDF] Pontus LeBlanc, Emma van Reempts, Frederic Tran Mau-Them, 3, 8 Ingrid M. Wentzensen, 9 Kit Sing Au, 10, 11 Kate Richardson, 10, 11 Hope Northrup, 10, 11 …
E Bogaert, A Garde, T Gautier, K Rooney… - The American Journal …, 2023 - cris.unibo.it
SRSF1 (also known as ASF/SF2) is a non-small nuclear ribonucleoprotein (non-snRNP) that
belongs to the arginine/serine (R/S) domain family. It recognizes and binds to mRNA …
belongs to the arginine/serine (R/S) domain family. It recognizes and binds to mRNA …
[图书][B] Tris (1, 3-dichloro-2-propyl) phosphate: Impacts on Epigenetic Reprogramming and Cellular Metabolism During Embryonic Development
SG Avila-Barnard - 2023 - search.proquest.com
Organophosphate flame retardants (OPFR) are semi-volatile additive flame retardants that
are found in a variety of products that contain polyurethane foam, textiles, and plasticizers …
are found in a variety of products that contain polyurethane foam, textiles, and plasticizers …