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ZFIN ID: ZDB-PERS-230316-1
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BIOGRAPHY AND RESEARCH INTERESTS
As a researcher with a keen interest in neurodevelopmental disorders and hearing loss, my work focuses on using the zebrafish model to investigate the functional consequences of gene loss of function associated with these disorders. The aim of my research is to elucidate the mechanisms underlying the pathogenesis of these disorders by studying the impact of gene loss of function on the development of the nervous and auditory systems. To achieve this, I use a combination of genetic, molecular, and behavioral approaches, including genome-wide association studies, CRISPR/Cas9 gene editing, gene knockdown, transcriptomic and proteomic analyses, and behavioral assays.
The zebrafish model provides a unique opportunity to study these processes in vivo, as it allows for the visualization and manipulation of gene expression during development. By leveraging the strengths of this model, I hope to contribute to a deeper understanding of the molecular basis of neurodevelopmental disorders and hearing loss. Ultimately, this knowledge could lead to the development of novel therapeutic strategies for these conditions.
PUBLICATIONS
Lin, S.J., Vona, B., Lau, T., Huang, K., Zaki, M.S., Aldeen, H.S., Karimiani, E.G., Rocca, C., Noureldeen, M.M., Saad, A.K., Petree, C., Bartolomaeus, T., Abou Jamra, R., Zifarelli, G., Gotkhindikar, A., Wentzensen, I.M., Liao, M., Cork, E.E., Varshney, P., Hashemi, N., Mohammadi, M.H., Rad, A., Neira, J., Toosi, M.B., Knopp, C., Kurth, I., Challman, T.D., Smith, R., Abdalla, A., Haaf, T., Suri, M., Joshi, M., Chung, W.K., Moreno-De-Luca, A., Houlden, H., Maroofian, R., Varshney, G.K. (2023) Evaluating the association of biallelic OGDHL variants with significant phenotypic heterogeneity. Genome Medicine. 15:102102
Accogli, A., Lin, S.J., Severino, M., Kim, S.H., Huang, K., Rocca, C., Landsverk, M., Zaki, M., Al-Maawali, A., Srinivasan, V.M., Al-Thihli, K., Schaefer, G.B., Davis, M., Tonduti, D., Doneda, C., Marten, L.M., Mühlhausen, C., Gomez, M., Lamantea, E., Mena, R., Nizon, M., Procaccio, V., Begtrup, A., Telegrafi, A., Cui, H., Schulz, H.L., Mohr, J., Biskup, S., Loos, M.A., Aráoz, H.V., Salpietro, V., Keppen, L.D., Chitre, M., Petree, C., Raymond, L., Vogt, J., Swayer, L.B., Basinger, A.A., Pedersen, S.V., Pearson, T.S., Grange, D.K., Lingapp, L., McDunnah, P., Horvath, R., Cogne, B., Isidor, B., Hahn, A., Gripp, K., Jafarnejad, S.M., Ostergaard, E., Prada, C.E., Ghezzi, D., Gowda, V.K., Taylor, R.W., Sonenberg, N., Houlden, H., Sissler, M., Varshney, G.K., Maroofian, R. (2023) Clinical, neuroradiological and molecular characterization of mitochondrial threonyl-tRNA-synthetase (TARS2)-related disorder. Genetics in medicine : official journal of the American College of Medical Genetics. 25(11):100938
Calì, E., Lin, S.J., Rocca, C., Sahin, Y., Al Shamsi, A., El Chehadeh, S., Chaabouni, M., Mankad, K., Galanaki, E., Efthymiou, S., Sudhakar, S., Athanasiou-Fragkouli, A., Çelik, T., Narlı, N., Bianca, S., Murphy, D., De Carvalho Moreira, F.M., SYNaPS Study Group, Andrea Accogli, ., Petree, C., Huang, K., Monastiri, K., Edizadeh, M., Nardello, R., Ognibene, M., De Marco, P., Ruggieri, M., Zara, F., Striano, P., Şahin, Y., Al-Gazali, L., Abi Warde, M.T., Gerard, B., Zifarelli, G., Beetz, C., Fortuna, S., Soler, M., Valente, E.M., Varshney, G., Maroofian, R., Salpietro, V., Houlden, H. (2022) A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease. Genetics in medicine : official journal of the American College of Medical Genetics. 24(10):2194-2203
Lin, S.J., Vona, B., Porter, H.M., Izadi, M., Huang, K., Lacassie, Y., Rosenfeld, J.A., Khan, S., Petree, C., Ali, T.A., Muhammad, N., Khan, S.A., Muhammad, N., Liu, P., Haymon, M.L., Rüschendorf, F., Kong, I.K., Schnapp, L., Shur, N., Chorich, L., Layman, L., Haaf, T., Pourkarimi, E., Kim, H.G., Varshney, G.K. (2022) Biallelic variants in WARS1 cause a highly variable neurodevelopmental syndrome and implicate a critical exon for normal auditory function. Human Mutation. 43(10):1472-1489
Lin, S.J., Huang, Y.C., Chen, H.Y., Fang, J.Y., Hsu, S.Y., Shih, H.Y., Liu, Y.C., Cheng, Y.C. (2021) RGS2 Suppresses Melanoma Growth via Inhibiting MAPK and AKT Signaling Pathways. Anticancer research. 41:6135-6145
Lin, S.J., Vona, B., Barbalho, P.G., Kaiyrzhanov, R., Maroofian, R., Petree, C., Severino, M., Stanley, V., Varshney, P., Bahena, P., Alzahrani, F., Alhashem, A., Pagnamenta, A.T., Aubertin, G., Estrada-Veras, J.I., Hernández, H.A.D., Mazaheri, N., Oza, A., Thies, J., Renaud, D.L., Dugad, S., McEvoy, J., Sultan, T., Pais, L.S., Tabarki, B., Villalobos-Ramirez, D., Rad, A., Genomics England Research Consortium, Galehdari, H., Ashrafzadeh, F., Sahebzamani, A., Saeidi, K., Torti, E., Elloumi, H.Z., Mora, S., Palculict, T.B., Yang, H., Wren, J.D., Ben Fowler, ., Joshi, M., Behra, M., Burgess, S.M., Nath, S.K., Hanna, M.G., Kenna, M., Merritt, J.L., Houlden, H., Karimiani, E.G., Zaki, M.S., Haaf, T., Alkuraya, F.S., Gleeson, J.G., Varshney, G.K. (2021) Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish. Genetics in medicine : official journal of the American College of Medical Genetics. 23(10):1933-1943
Vona, B., Mazaheri, N., Lin, S.J., Dunbar, L.A., Maroofian, R., Azaiez, H., Booth, K.T., Vitry, S., Rad, A., Rüschendorf, F., Varshney, P., Fowler, B., Beetz, C., Alagramam, K.N., Murphy, D., Shariati, G., Sedaghat, A., Houlden, H., Petree, C., VijayKumar, S., Smith, R.J.H., Haaf, T., El-Amraoui, A., Bowl, M.R., Varshney, G.K., Galehdari, H. (2021) A biallelic variant in CLRN2 causes non-syndromic hearing loss in humans. Human genetics. 140(6):915-931
Yeh, T.H., Liu, H.F., Li, Y.W., Lu, C.S., Shih, H.Y., Chiu, C.C., Lin, S.J., Huang, Y.C., Cheng, Y.C. (2018) C9orf72 is essential for neurodevelopment and motility mediated by cyclin G1. Experimental neurology. 304:114-124
Huang, Y.C., Lin, S.J., Shih, H.Y., Chou, C.H., Chu, H.H., Chiu, C.C., Yuh, C.H., Yeh, T.H., Cheng, Y.C. (2017) Epigenetic regulation of NOTCH1 and NOTCH3 by KMT2A inhibits glioma proliferation. Oncotarget. 8:63110-63120
Lin, S.J., Chiang, M.C., Shih, H.Y., Chiang, K.C., Cheng, Y.C. (2017) Spatiotemporal expression of foxo4, foxo6a, and foxo6b in the developing brain and retina are transcriptionally regulated by PI3K signaling in zebrafish. Development genes and evolution. 227(3):219-230
Shih, H.Y., Hsu, S.Y., Ouyang, P., Lin, S.J., Chou, T.Y., Chiang, M.C., Cheng, Y.C. (2017) Bmp5 Regulates Neural Crest Cell Survival and Proliferation Via Two Different Signaling Pathways. Stem cells (Dayton, Ohio). 35(4):1003-1014
Lin, S.J., Chiang, M.C., Shih, H.Y., Hsu, L.S., Yeh, T.H., Huang, Y.C., Lin, C.Y., Cheng, Y.C. (2017) Regulator of G protein signaling 2 (Rgs2) regulates neural crest development through Pparδ-Sox10 cascade. Biochimica et biophysica acta. 1864(3):463-474
Chiang, K.C., Hsu, S.Y., Lin, S.J., Yeh, C.N., Pang, J.H., Wang, S.Y., Hsu, J.T., Yeh, T.S., Chen, L.W., Kuo, S.F., Cheng, Y.C., Juang, H.H. (2016) PTEN Insufficiency Increases Breast Cancer Cell Metastasis In Vitro and In Vivo in a Xenograft Zebrafish Model. Anticancer research. 36:3997-4005
Cheng, Y.C., Huang, Y.C., Yeh, T.H., Shih, H.Y., Lin, C.Y., Lin, S.J., Chiu, C.C., Huang, C.W., Jiang, Y.J. (2015) Deltex1 is inhibited by the Notch-Hairy/E(Spl) signaling pathway and induces neuronal and glial differentiation. Neural Development. 10:28
Huang, Y.C., Shih, H.Y., Lin, S.J., Chiu, C.C., Ma, T.L., Yeh, T.H., Cheng, Y.C. (2015) The epigenetic factor Kmt2a/Mll1 regulates neural progenitor proliferation and neuronal and glial differentiation. Developmental Neurobiology. 75(5):452-62
Cheng, Y.C., Chiang, M.C., Shih, H.Y., Ma, T.L., Yeh, T.H., Huang, Y.C., Lin, C.Y., Lin, S.J. (2015) The transcription factor hairy/E(spl)-related 2 induces proliferation of neural progenitors and regulates neurogenesis and gliogenesis. Developmental Biology. 397(1):116-28
Chen, S.Y., Shih, H.Y., Lin, S.J., Hsiao, C.D., Li, Z.C., and Cheng, Y.C. (2013) Etv5a regulates the proliferation of ventral mesoderm cells and the formation of hemato-vascular derivatives. Journal of Cell Science. 126(Pt 24):5626-34
Hsieh, F.Y., Ma, T.L., Shih, H.Y., Lin, S.J., Huang, C.W., Wang, H.Y., and Cheng, Y.C. (2013) Dner inhibits neural progenitor proliferation and induces neuronal and glial differentiation in zebrafish. Developmental Biology. 375(1):1-12
Cheng, Y.C., Scotting, P.J., Hsu, L.S., Lin, S.J., Shih, H.Y., Hsieh, F.Y., Wu, H.L., Tsao, C.L., and Shen, C.J. (2013) Zebrafish rgs4 is essential for motility and axonogenesis mediated by Akt signaling. Cellular and molecular life sciences : CMLS. 70(5):935-950
Cheng, Y.C., Hsieh, F.Y., Chiang, M.C., Scotting, P.J., Shih, H.Y., Lin, S.J., Wu, H.L., and Lee, H.T. (2013) Akt1 Mediates Neuronal Differentiation in Zebrafish via a Reciprocal Interaction with Notch Signaling. PLoS One. 8(1):e54262
NON-ZEBRAFISH PUBLICATIONS
Lin, S.J., Huang, Y.C., Chen, H.Y., Fang, J.Y., Hsu, S.Y., Shih, H.Y., Liu, Y.C., Cheng, Y.C. (2021) RGS2 Suppresses Melanoma Growth via Inhibiting MAPK and AKT Signaling Pathways. Anticancer research. 41:6135-6145
Huang, Y.C., Lin, S.J., Shih, H.Y., Chou, C.H., Chu, H.H., Chiu, C.C., Yuh, C.H., Yeh, T.H., Cheng, Y.C. (2017) Epigenetic regulation of NOTCH1 and NOTCH3 by KMT2A inhibits glioma proliferation. Oncotarget. 8:63110-63120
