Sabrina Shameen Alam

This study uses a mouse model to show that Snrpb deletion causes axial skeletal defects by disrupting p53 and RA signaling, without affecting somite patterning.

The paper identifies four potential inhibitors of IMPDH in Cryptosporidium parvum using in silico methods, showing good pharmacokinetics and low toxicity.

This study shows that Snrpb mutations cause craniofacial defects by disrupting splicing of genes involved in P53 regulation and craniofacial development.

The paper re-evaluates the efficiency of a CRISPR-Cas9 method for generating conditional knockout alleles in mice, finding very low success rates and high rates of undesired alleles.

This study shows that a Snap29 loss-of-function mutation on a mixed genetic background in mice replicates multiple abnormalities seen in CEDNIK and 22q11.2DS patients, including skin, neurological, and fertility issues.