Interactive Notebooks Improve Students' Understanding of Developmental Neurobiology, Attitudes Toward Research, and Experimental Design Competency in a Lecture-Based Neuroscience Course.

Recent efforts to engage postsecondary science, technology, engineering, and mathematics (STEM) students in the rigors of discovery-driven inquiry have centered on the integration of course-based undergraduate research experiences (CUREs) within the biology curricula. While this method of laboratory education is demonstrated to improve students' content knowledge, motivations, affect, and persistence in STEM, CUREs may present as cost- and/or resource-prohibitive. Likewise, not all lecture courses have a concomitant laboratory requirement.

Characterization of the zebrafish gabra1 germline loss of function allele confirms a function for Gabra1 in motility and nervous system development.

Mutation of the GABRA1 gene is associated with neurodevelopmental defects and epilepsy. GABRA1 encodes for the α1 subunit of the γ-aminobutyric acid type A receptor (GABAR), which regulates the fast inhibitory impulses of the nervous system. Multiple model systems have been developed to understand the function of GABRA1, but these models have produced complex and, at times, incongruent data.

Overexpression of Prevents Craniofacial Phenotypes Caused by Knockdown of .

ZNF143 is a sequence-specific DNA binding protein that regulates the expression of protein-coding genes and small RNA molecules. In humans, ZNF143 interacts with HCFC1, a transcriptional cofactor, to regulate the expression of downstream target genes, including , which encodes an enzyme involved in cobalamin () metabolism. Mutations in or cause an inborn error of cobalamin metabolism characterized by abnormal metabolism, intellectual disability, seizures, and mild to moderate craniofacial abnormalities.

Abnormal chondrocyte development in a zebrafish model of cblC syndrome restored by an MMACHC cobalamin binding mutant.

Variants in the MMACHC gene cause combined methylmalonic acidemia and homocystinuria cblC type, the most common inborn error of intracellular cobalamin (vitamin B12) metabolism. cblC is associated with neurodevelopmental, hematological, ocular, and biochemical abnormalities. In a subset of patients, mild craniofacial dysmorphia has also been described.

Characterization of the zebrafish germline loss of function allele confirms a function for Gabra1 in motility and nervous system development.

Mutation of the gene is associated with neurodevelopmental defects and epilepsy. encodes for the α1 subunit of the gamma-aminobutyric acid type A receptor (GABAR), which regulates the fast inhibitory impulses of the nervous system. Multiple model systems have previously been developed to understand the function of during development, but these models have produced complex and at times incongruent data.

Abnormal chondrocyte intercalation in a zebrafish model of syndrome restored by an MMACHC cobalamin binding mutant.

Variants in the gene cause combined methylmalonic acidemia and homocystinuria type, the most common inborn error of intracellular cobalamin (vitamin B12) metabolism. is associated with neurodevelopmental, hematological, ocular, and biochemical abnormalities. In a subset of patients, mild craniofacial dysmorphia has also been described.

Knockdown of hspg2 is associated with abnormal mandibular joint formation and neural crest cell dysfunction in zebrafish.

Background: Heparan sulfate proteoglycan 2 (HSPG2) encodes for perlecan, a large proteoglycan that plays an important role in cartilage formation, cell adhesion, and basement membrane stability. Mutations in HSPG2 have been associated with Schwartz-Jampel Syndrome (SJS) and Dyssegmental Dysplasia Silverman-Handmaker Type (DDSH), two disorders characterized by skeletal abnormalities. These data indicate a function for HSPG2 in cartilage development/maintenance.

Activation of WNT signaling restores the facial deficits in a zebrafish with defects in cholesterol metabolism.

Inborn errors of cholesterol metabolism occur as a result of mutations in the cholesterol synthesis pathway (CSP). Although mutations in the CSP cause a multiple congenital anomaly syndrome, craniofacial abnormalities are a hallmark phenotype associated with these disorders. Previous studies have established that mutation of the zebrafish hmgcs1 gene (Vu57 allele), which encodes the first enzyme in the CSP, causes defects in craniofacial development and abnormal neural crest cell (NCC) differentiation.

Hcfc1a regulates neural precursor proliferation and asxl1 expression in the developing brain.

Background: Precise regulation of neural precursor cell (NPC) proliferation and differentiation is essential to ensure proper brain development and function. The HCFC1 gene encodes a transcriptional co-factor that regulates cell proliferation, and previous studies suggest that HCFC1 regulates NPC number and differentiation. However, the molecular mechanism underlying these cellular deficits has not been completely characterized.

Abnormal expression of GABA receptor subunits and hypomotility upon loss of in zebrafish.

We used whole-exome sequencing (WES) to determine the genetic etiology of a patient with a multi-system disorder characterized by a seizure phenotype. WES identified a heterozygous missense mutation in the gene (c.875C>T).

Mutations in the zebrafish gene reveal a novel function for isoprenoids during red blood cell development.

Erythropoiesis is the process by which new red blood cells (RBCs) are formed and defects in this process can lead to anemia or thalassemia. The GATA1 transcription factor is an established mediator of RBC development. However, the upstream mechanisms that regulate the expression of are not completely characterized.