Over the past decade, recognition of the profound impact of the TBX4 (T-box 4) gene, which
encodes a member of the evolutionarily conserved family of T-box–containing transcription …

GRIA1 encodes the GluA1 subunit of α-amino-3-hydroxy-5-methyl-4-isoxazole propionate
(AMPA) receptors, which are ligand-gated ion channels that act as excitatory receptors for …

CRISPR/Cas9 genome editing has revolutionized functional genomics in vertebrates.
However, CRISPR/Cas9 edited F0 animals too often demonstrate variable phenotypic …

Recent progress in human disease genetics is leading to rapid advances in understanding
pathobiological mechanisms. However, the sheer number of risk-conveying genetic variants …

Background Coat protein complex 1 (COPI) is integral in the sorting and retrograde
trafficking of proteins and lipids from the Golgi apparatus to the endoplasmic reticulum (ER) …

Skeletal ciliopathies (eg, Jeune syndrome, short rib polydactyly syndrome, and
Sensenbrenner syndrome) are frequently associated with nephronophthisis-like cystic …

The evolution and development of vertebrate lungs have been widely studied due to their
significance in terrestrial adaptation. Amphibians possess the most primitive lungs among …

Variants involving TBX4 are associated with a wide variety of disorders, including pulmonary
arterial hypertension, ischiocoxopodopatellar syndrome (ICPPS)/small patella syndrome …

Mutation is the basis of phenotypic changes and serves as the source of natural selection.
The development of limbs has been the milestone in vertebrate evolution. Several limb and …

Next-generation sequencing (NGS) has been proven to be one of the most powerful
diagnostic tools for rare Mendelian disorders. Several studies on the clinical application of …