ZFIN ID: ZDB-LAB-190312-1
Hejtmancik Lab
PI/Director: Hejtmancik, J. Fielding
Contact Person: Hejtmancik, J. Fielding
Email: hejtmancikj@nei.nih.gov
Address: OMGS/OGVFB/NEI/NIH Room 1N02E 5625 Fisher's Lane Rockville, MD 20852
Country: United States
Phone: 301-496-8300
Line Designation: nds

Show all 1 genomic features

Our lab is interested in inherited eye diseases and the genes and mutations that cause or contribute to them, and what they can tell us about the visual system. We carry out a combination of positional cloning and functional analysis of the wild type and mutant proteins in vitro, in cell culture, and in model organisms including zebrafish.


Deveau, C., Jiao, X., Suzuki, S.C., Krishnakumar, A., Yoshimatsu, T., Hejtmancik, J.F., Nelson, R.F. (2020) Thyroid hormone receptor beta mutations alter photoreceptor development and function in Danio rerio (zebrafish). PLoS Genetics. 16:e1008869
Xiao, X., Sun, W., Ouyang, J., Li, S., Jia, X., Tan, Z., Hejtmancik, J.F., Zhang, Q. (2019) Novel truncation mutations in MYRF cause autosomal dominant high hyperopia mapped to 11p12-q13.3. Human genetics. 138(10):1077-1090
Li, L., Jiao, X., D'Atri, I., Ono, F., Nelson, R., Chan, C.C., Nakaya, N., Ma, Z., Ma, Y., Cai, X., Zhang, L., Lin, S., Hameed, A., Chioza, B.A., Hardy, H., Arno, G., Hull, S., Khan, M.I., Fasham, J., Harlalka, G.V., Michaelides, M., Moore, A.T., Coban Akdemir, Z.H., Jhangiani, S., Lupski, J.R., Cremers, F.P.M., Qamar, R., Salman, A., Chilton, J., Self, J., Ayyagari, R., Kabir, F., Naeem, M.A., Ali, M., Akram, J., Sieving, P.A., Riazuddin, S., Baple, E.L., Riazuddin, S.A., Crosby, A.H., Hejtmancik, J.F. (2018) Mutation in the intracellular chloride channel CLCC1 associated with autosomal recessive retinitis pigmentosa. PLoS Genetics. 14:e1007504
Biswas, P., Chavali, V.R., Agnello, G., Stone, E., Chakarova, C., Duncan, J.L., Kannabiran, C., Homsher, M., Bhattacharya, S.S., Naeem, M.A., Kimchi, A., Sharon, D., Iwata, T., Riazuddin, S., Reddy, G.B., Hejtmancik, J.F., Gerogiou, G., Riazuddin, S.A., Ayyagari, R. (2016) A missense mutation in the ASRGL1 gene is involved in causing autosomal recessive retinal degeneration. Human molecular genetics. 25(12):2483-2497
Khan, S.Y., Vasanth, S., Kabir, F., Gottsch, J.D., Khan, A.O., Chaerkady, R., Lee, M.W., Leitch, C.C., Ma, Z., Laux, J., Villasmil, R., Khan, S.N., Riazuddin, S., Akram, J., Cole, R.N., Talbot, C.C., Pourmand, N., Zaghloul, N.A., Hejtmancik, J.F., Riazuddin, S.A. (2016) FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1. Nature communications. 7:10953
Posner, M., Kiss, A.J., Skiba, J., Drossman, A., Dolinska, M.B., Hejtmancik, J.F., and Sergeev, Y.V. (2012) Functional Validation of Hydrophobic Adaptation to Physiological Temperature in the Small Heat Shock Protein alphaA-crystallin. PLoS One. 7(3):e34438