SELECTED PUBLICATIONS

Quadri, N. and P. Upadhyai (2023). "Primary cilia in skeletal development and disease." Exp Cell Res 431(1): 113751.

Simsek-Kiper PO, Jacob P, Upadhyai P, Taşkıran ZE, Guleria VS, KaraosmanogluB, Imren G, Gocmen R, Bhavani GS, Kausthubham N, Shah H, Utine GE, Boduroglu K, Girisha KM. Biallelic loss-of-function variants in EXOC6B are associated with impaired primary ciliogenesis and cause spondylo-epi-metaphyseal dysplasia with joint laxity type 3. Hum Mutat. 2022 Sep 23. doi: 10.1002/humu.24478.

Guleria, V. S., Parit, R., Quadri, N., Das, R. & Upadhyai, P. The intraflagellar transport protein IFT52 associated with short-rib thoracic dysplasia is essential for ciliary function in osteogenic differentiation in vitro and for sensory perception in Drosophila. Exp Cell Res 418, 113273 (2022). https://doi.org:10.1016/j.yexcr.2022.11327

Upadhyai, P. et al. Biallelic deep intronic variant c.5457+81T>A in TRIP11 causes loss of function and results in achondrogenesis 1A. Hum Mutat 42, 1005-1014 (2021). https://doi.org:10.1002/humu.24235

Somashekar, P. H. et al. Bi-allelic missense variant, p.Ser35Leu in EXOSC1 is associated with pontocerebellar hypoplasia. Clin Genet 99, 594-600 (2021). https://doi.org:10.1111/cge.13928

Upadhyai, P., Guleria, V. S. & Udupa, P. Characterization of primary cilia features reveal cell-type specific variability in in vitro models of osteogenic and chondrogenic differentiation. PeerJ 8, e9799 (2020). https://doi.org:10.7717/peerj.9799

Hoppe, C. et al. Modulation of the Promoter Activation Rate Dictates the Transcriptional Response to Graded BMP Signaling Levels in the Drosophila Embryo. Dev Cell 54, 727-741 e727 (2020). https://doi.org:10.1016/j.devcel.2020.07.007

Upadhyai, P. & Campbell, G. Brinker possesses multiple mechanisms for repression because its primary co-repressor, Groucho, may be unavailable in some cell types. Development 140, 4256-4265 (2013). https://doi.org:10.1242/dev.099366