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Skeletal Disorders


Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.

Gao, B., Guo, J., She, C., Shu, A., Yang, M., Tan, Z., Yang, X., Guo, S., Feng, G., & He, L. (2001). Nature Genetics


Answering a century old riddle: brachydactyly type A1.

Gao, B., & He, L. (2004). Cell Research


A mutation in Ihh that causes digit abnormalities alters its signalling capacity and range.

Gao, B., Hu, J., Stricker, S., Cheung, M., Ma, G., Law, K.F., Witte, F., Briscoe, J., Mundlos, S., He, L., Cheah, K.S., & Chan, D. (2009). Nature


SOX9 governs differentiation stage-specific gene expression in growth plate chondrocytes via direct concomitant transactivation and repression.

Leung, V., Gao, B., Leung, K., Melhado, I., Wynn, S., Au, T., Dung, N., Lau, J., Mak, A., Chan, D., & Cheah, K. (2011). PLoS Genetics


Mutations in COMP cause familial carpal tunnel syndrome

Li, C., Wang, N., Schaffer, A.A., Liu, X., Zhao, Z., Elliott, G., Garrett, L., Choi, N.T., Wang, Y., Wang, Y., Wang, C., Wang, J., Su, P., Chan, D., Cui, S., Yang, Y., & Gao, B. (2020). Nature Communications


Identification of Copy Number Variants in a Southern Chinese Cohort of Patients with Congenital Scoliosis

Lai, W., Feng, X., Yue, M., Cheung, P.W.H., Choi, V.N.T., Song, Y.Q., Luk, K.D.K., Cheung, J.P.Y., & Gao, B. (2021). Genes

Genetic variants of TBX6 and TBXT identified in patients with congenital scoliosis in Southern China

Feng, X., Cheung, J.P.Y., Je, J.S.H., Cheung, P.W.H., Chen, S.X., Yue, M., Wang, N., Choi, V.N.T., Yang, X.Y., Song, Y.Q., Luk, K.D.K., & Gao, B. (2021). Journal of Orthopaedic Research


Phenotypic Spectrum and Molecular Basis in a Chinese Cohort of Osteogenesis Imperfecta With Mutations in Type I Collagen

Chen, P., Tan, Z., Shek, H.T., Zhang, J., Zhou, Y., Yin, S., Dong, Z., Xu, J., Qiu, A., Dong, L., Gao, B., & To, M.K.T. (2022). Frontiers in Genetics

Patient-reported outcomes in a Chinese cohort of osteogenesis imperfecta unveil psycho-physical stratifications associated with clinical manifestations

Chen, P., Tan, Z., Qiu, A., Yin, S., Zhou, Y., Dong, Z., Qiu, Y., Xu, J., Li, K., Dong, L., Shek, H.T., Liu, J., Yeung, E.H.K., Gao, B., Cheung, K.M.C., To, M.K. (2022) Orphanet Journal Of Rare Diseases


Retrospective analyses of clinical features in 28 Chinese patients with type V osteogenesis imperfecta: new perspectives in an old issue

Tan, Z., Shek, H.T., Dong, Z., Feng, L., Zhou, Y., Yin, S., Qiu, A., Dong, L., Gao, B., Chen, P., To, M.K.T. (2023) Osteoporosis International

Clinical features and molecular characterization of Chinese patients with FKBP10 variants

Tan, Z., Shek, H.T., Chen, P., Dong, Z., Zhou, Y., Yin, S., Qiu, A., Dong, L., Gao, B., To, M.K.T. (2023) Molecular Genetics & Genomic Medicine

Exploring the association between congenital vertebral malformations and neural tube defects

Ye, Y., Zhang, J., Feng, X., Chen, C., Chang, Y., Qiu, G., Wu, Z., Zhang, T.J., Gao, B., Wu, N. (2023) Journal of Medical Genetics


Impaired glycine neurotransmission causes adolescent idiopathic scoliosis

Wang, X., Yue, M., Cheung, J.P.Y., Cheung, P.W.H., Fan, Y., Wu, M., Wang, X., Zhao, S., Khanshour, A.M., Rios, J.J., Chen, Z., Wang, X., Tu, W., Chan, D., Yuan, Q., Qin, D., Qiu, G., Wu, Z., Zhang, J., Ikegawa, S., Wu, N., Wise, C.A., Hu, Y., Luk, K.D.K., Song, Y.Q., Gao, B. (2024) The Journal of Clinical Investigation

Wnt/PCP Signaling


Planar cell polarity breaks bilateral symmetry by controlling ciliary positioning

Song, H., Hu, J., Chen, W., Elliott, G., Andre, P., Gao, B., Yang, Y. (2010). Nature


Wnt signaling gradients establish planar cell polarity by inducing Vangl2 phosphorylation through Ror2.

Gao, B., Song, H., Bishop, K., Elliot, G., Garrett, L., English, M.A., Andre, P., Robinson, J., Sood, R., Minami, Y., Economides, A.N., & Yang, Y. (2011). Developmental Cell


Wnt Regulation of Planar Cell Polarity (PCP).

Gao, B.(2012). Current Topics in Developmental Biology

The Wnt coreceptor Ryk regulates Wnt/planar cell polarity by modulating the degradation of the core planar cell polarity component Vangl2

Andre, P., Wang, Q., Wang, N., Gao, B., Schilit, A., Halford, M.M., Stacker, S.A., Zhang, X., Yang, Y. (2012). Journal of Biological Chemistry


Planar Cell Polarity in vertebrate limb morphogenesis.

Gao, B., & Yang, Y. (2013). Current Opinion in Genetics & Development


 Wnt-induced Vangl2 phosphorylation is dose-dependently required for planar cell polarity in mammalian development.

Yang, W., Garrett, L., Feng, D., Elliott, G., Liu, X., Wang, N., Wong, Y.M., Choi, N.T., Yang, Y., & Gao, B. (2017). Cell Research


Coordinated directional outgrowth and pattern formation by integration of Wnt5a and Fgf signaling in planar cell polarity.

Gao, B., Ajima, R., Yang, W., Li, C., Song, H., Anderson, M.J., Liu, R.R., Lewandoski, M.B., Yamaguchi, T.P., & Yang, Y. (2018). Development


Regulation of Wnt/PCP Signaling through p97/VCP-KBTBD7-mediated Vangl Ubiquitination and Endoplasmic Reticulum-Associated Degradation.

Feng, D., Wang, J., Yang, W., Li, J., Lin, X., Zha, F., Wang, X., Ma, L., Choi, N.T., Mii, Y., Takada, S., Huen, M.S.Y., Guo, Y., Zhang, L., & Gao, B. (2021).  Science Advances

An overview of potential therapeutic agents targeting WNT/PCP signaling.

Wang, J., Feng, D., & Gao, B. (2021). Handbook of Experimental Pharmacology


Analysis of the Ubiquitination and Phosphorylation of Vangl Proteins.

Feng, D., He, Z., & Gao, B. (2022). Bio Protocol

Other Publications


A locus for congenital preauricular fistula maps to chromosome 8q11.1–q13.3

Zou, F., Peng, Y., Wang, X., Sun, A., Liu, W., Bai, S., Zhu, H., Gao, B., Feng, G., He, L. (2003). Journal of Human Genetics


Genetic structure adds power to detect schizophrenia susceptibility at SLIT3 in the Chinese Han population.

Shi, Y., Zhao, X., Yu, L., Tao, R., Tang, J., La, Y., Duan, Y., Gao, B., Gu, N., Xu, Y., Feng, G., Zhu, S., Liu, H., Salter, H., He, L. (2004). Genome Research


Functional variants in the promoter region of chitinase 3–like 1 (CHI3L1) and susceptibility to schizophrenia.

Zhao, X., Tang, R., Gao, B., Shi, Y., Zhou, J., Guo, S., Zhang, J., Wang, Y., Tang, W., Meng, J., Li, S., Wang, H., Ma, G., Lin, C., Xiao, Y., Feng, G., Lin, Z., Zhu, S., Xing, Y., Sang, H., St Clair, D., He, L. (2007). The American Journal of Human Genetics

IHH and FGF8 coregulate elongation of digit primordia.

Zhou, J., Meng, J., Guo, S., Gao, B., Ma, G., Zhu, X., Hu, J., Xiao, Y., Lin, C., Wang, H., Ding, L., Feng, G., Guo, X., He, L. (2007). Biochemical and Biophysical Research Communications


Missense mutations in IHH impair Indian Hedgehog signaling in C3H10T1/2 cells: Implications for brachydactyly type A1, and new targets for Hedgehog signaling

Guo, S., Zhou, J., Gao, B., Hu, J., Wang, H., Meng, J., Zhao, X., Ma, G., Lin, C., Xiao, Y., Tang, W., Zhu, X., Cheah, K.S.E., Feng, G., Chan, D., He, L. (2010). Cellular & Molecular Biology Letters

SOX9 induces and maintains neural stem cells

Scott, C.E., Wynn, S.L., Sesay, A., Cruz, C., Cheung, M., Gomez Gaviro, M.V., Booth, S., Gao, B., Cheah, K.S.E., Lovell-Badge, R., Briscoe, J. (2010). Nature Neuroscience


Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels

Ma, G., Yu, J., Xiao, Y., Chan, D., Gao, B., Hu, J., He, Y., Guo, S., Zhou, J., Zhang, L., Gao, L., Zhang, W., Kang, Y., Cheah, K.S.E., Feng, G., Guo, X., Wang, Y., Zhou, C.Z., He, L. (2011). Cell Research


Casein kinase 1δ functions at the centrosome and Golgi to promote ciliogenesis.

Greer, Y.E., Westlake, C.J., Gao, B., Bharti, K., Shiba, Y., Xavier, C.P., Pazour, G.J., Yang, Y., Rubin, J.S. (2014). Molecular Biology of the Cell


Lack of Casein Kinase 1 Delta Promotes Genomic Instability-The Accumulation of DNA Damage and Down-Regulation of Checkpoint Kinase 1.

Greer, Y.E., Gao, B., Yang, Y., Nussenzweig, A., Rubin, J.S. (2017). PloS One


MT1-MMP deficiency leads to defective ependymal cell maturation, impaired ciliogenesis, and hydrocephalus.

Jiang, Z., Zhou, J., Qin, X., Zheng, H., Gao, B., Liu, X., Jin, G., Zhou, Z. (2020). JCI insight


Chen, Z.Y., Luk, K.D.K., Song, Y.Q., Gao, B., Cheung, J.P.Y. (2021) BMC Musculoskeletal Disorders

Multiphoton microfabrication and micropatterning (MMM) – An all-in-one platform for engineering biomimetic soluble cell niches.

Wang, X., Gao, B., Chan, B.P. (2021). Biomaterials


A Bio‐Functional Wnt3a Gradient Microarray for Cell Niche Studies

Wang, X., Ou, W., Feng, D., Gao, B., Chan, B.P. (2023). Advanced Functional Materials

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