2024年12月25日 · TUBB2A (Tubulin Beta 2A Class IIa) is a Protein Coding gene. Diseases associated with TUBB2A include Cortical Dysplasia, Complex, With Other Brain Malformations …

2016年3月24日 · Tubulinopathies (or tubulin-related cortical dysgenesis) comprise a wide and overlapping range of brain malformations as well as other clinical features caused by …

TUBB2A is a beta-tubulin gene that is active in the brain during both its development and after birth. TUBB2A variants were first reported in children with subtle or undetectable brain …

TUBB2A- related tubulinopathy (p.Asn247Lys) was first described in a patient with a phenotype of infantile spasms, global developmental delay, and brain malformations including a simplified …

The imaging phenotype associated with pathogenic variants in <i>TUBB2A</i> is highly variable, ranging from a normal cortex to extensive dysgyria with associated brain malformations.

Tubulin beta-2A chain is a protein that in humans is encoded by the TUBB2A gene. [5][6]

Microtubules, key participants in processes such as mitosis and intracellular transport, are composed of heterodimers of alpha- and beta-tubulins. The protein encoded by this gene is a …

Circular RNA circ_C16orf62 Suppresses Cell Growth in Gastric Cancer by miR-421/Tubulin beta-2A Chain (TUBB2A) Axis. De novo mutations of TUBB2A cause infantile-onset epilepsy and …

2024年12月9日 · Study shows that loss of Tubb2a or Tubb2b does not impair survival but does lead to relatively mild cortical malformation phenotypes. In contrast, loss of Tuba1a is perinatal …

De novo mutations in the beta-tubulin gene TUBB2A cause simplified gyral patterning and infantile-onset epilepsy. The status, quality, and expansion of the NIH full-length cDNA project: …