Genome-wide association studies (GWASs) are a research approach used to identify
genetic variants associated with common diseases, like COVID-19. The lead genetic …

Primary and motile cilia are eukaryotic organelles that perform crucial roles in cellular
signalling and motility. Intraflagellar transport (IFT) contributes to the formation of the highly …

Mutations in TUB-like protein 1 (TULP1) are associated with severe early-onset retinal
degeneration in humans. However, the pathogenesis remains largely unknown. There are …

Biallelic pathogenic variants in TULP1 are mostly associated with severe rod-driven
inherited retinal degeneration. In this study, we analyzed clinical heterogeneity in 17 …

The organ of Corti, located in the cochlea within the inner ear is the receptor organ for
hearing. It converts auditory signals into neuronal action potentials that are transmitted to the …

ABSTRACT MicroRNA-506 (miR-506), a miRNA, has been proven to act as a tumor
suppressor gene in nonsmall-cell lung cancer (NSCLC); Tubby-like protein 3 (TULP3) is a …

Inherited retinal degeneration (IRD) represents a clinically variable and genetically
heterogeneous group of disorders characterized by photoreceptor dysfunction. These …

In this study, we examine whether a change in the protein levels for FOP in Ankyrin repeat
and SAM domain-containing protein 1A (ANKS1A)-deficient ependymal cells affects the …

Purpose Tulp2 (tubby‐like protein 2) is a member of the tubby protein family and expressed
predominantly in mouse testis. Recently, it was reported that Tulp2 knockout (KO) mice …

The mechanisms underlying recessive Mendelian diseases and the interplay between
genotype and phenotype still need to be better understood. It is therefore necessary to …