Unveiling the role of gene inactivation in human disease
New work by Columbia researchers has turned a textbook principle of genetics on its head and revealed why some people ...
Tag: Mutation
Mapping cerebellar nuclei outputs in an autism mouse model
The cerebellum plays a critical role in both motor and non-motor functions, and its dysfunction is linked to various mental ...
Setd2 catalytic activity is crucial for embryonic development in mice
A recent study delves into the pivotal role of Setd2, a histone methyltransferase enzyme, in embryonic development within mice. Setd2 ...
New insights into the developmental trajectory of social behaviors in fragile X syndrome
In a comprehensive Genomic Press Interview, researchers from the University of Texas Health Science Center at San Antonio and Hirosaki ...
Generating mutated proteins through adversarial attacks on the AlphaFold2 model
Announcing a new publication for Acta Materia Medica journal. Proteins are essential macromolecules that perform functions according to their conformational ...
Surrey research offers new hope for people suffering from immunodeficiencies
Several rare immune disorders are caused by mutations in the patient's DNA. The University of Surrey and its collaborators found ...
New study challenges the traditional view of gene switches
Some sequences in the genome cause genes to be switched on or off. Until now, each of these gene switches, ...
Why predictive retina models could be the future of IND applications
In this interview, discover how retina models are revolutionizing rare disease treatment and accelerating drug development. What are the biggest ...
Drug repurposing offers hope for SYNGAP1 patients
The SynGAP Research Fund 501(c)(3) has awarded a pair of grants to Dr. Clement Chow, a geneticist and Associate Professor ...
Study provides new insights into the molecular causes of rare, fatal hereditary disease
A study entitled "IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport", now published in the open access journal "Cellular ...
