References
Balchin, D., Hayer-Hartl, M., & Hartl, F. U. (2016). In vivo aspects of
protein folding and quality control. Science, 353 (6294), aac4354.
doi:10.1126/science.aac4354
Cai, X. B., Zheng, Y. H., Chen, D. F., Zhou, F. Y., Xia, L. Q., Wen, X.
R., . . . Jin, Z. B. (2019). Expanding the Phenotypic and Genotypic
Landscape of Nonsyndromic High Myopia: A Cross-Sectional Study in 731
Chinese Patients. Invest Ophthalmol Vis Sci, 60 (12), 4052-4062.
doi:10.1167/iovs.19-27921
Chiang, C., Layer, R. M., Faust, G. G., Lindberg, M. R., Rose, D. B.,
Garrison, E. P., . . . Hall, I. M. (2015). SpeedSeq: ultra-fast personal
genome analysis and interpretation. Nat Methods, 12 (10), 966-968.
doi:10.1038/nmeth.3505
Chiang, W. C., Chan, P., Wissinger, B., Vincent, A., Skorczyk-Werner,
A., Krawczynski, M. R., . . . Lin, J. H. (2017). Achromatopsia mutations
target sequential steps of ATF6 activation. Proc Natl Acad Sci U S
A, 114 (2), 400-405. doi:10.1073/pnas.1606387114
Craft, C. M., Whitmore, D. H., & Wiechmann, A. F. (1994). Cone arrestin
identified by targeting expression of a functional family. J Biol
Chem, 269 (6), 4613-4619.
Deming, J. D., Pak, J. S., Brown, B. M., Kim, M. K., Aung, M. H., Eom,
Y. S., . . . Craft, C. M. (2015). Visual Cone Arrestin 4 Contributes to
Visual Function and Cone Health. Invest Ophthalmol Vis Sci,
56 (9), 5407-5416. doi:10.1167/iovs.15-16647
Depienne, C., Bouteiller, D., Keren, B., Cheuret, E., Poirier, K.,
Trouillard, O., . . . Leguern, E. (2009). Sporadic infantile epileptic
encephalopathy caused by mutations in PCDH19 resembles Dravet syndrome
but mainly affects females. PLoS Genet, 5 (2), e1000381.
doi:10.1371/journal.pgen.1000381
Farwell, K. D., Shahmirzadi, L., El-Khechen, D., Powis, Z., Chao, E. C.,
Tippin Davis, B., . . . Tang, S. (2015). Enhanced utility of
family-centered diagnostic exome sequencing with inheritance model-based
analysis: results from 500 unselected families with undiagnosed genetic
conditions. Genet Med, 17 (7), 578-586. doi:10.1038/gim.2014.154
Fu, D., Wu, M., Zhang, J., Du, M., Yang, S., Hammad, S. M., . . . Lyons,
T. J. (2012). Mechanisms of modified LDL-induced pericyte loss and
retinal injury in diabetic retinopathy. Diabetologia, 55 (11),
3128-3140. doi:10.1007/s00125-012-2692-0
Galupa, R., & Heard, E. (2018). X-Chromosome Inactivation: A Crossroads
Between Chromosome Architecture and Gene Regulation. Annu Rev
Genet, 52 , 535-566. doi:10.1146/annurev-genet-120116-024611
Griciuc, A., Aron, L., & Ueffing, M. (2011). ER stress in retinal
degeneration: a target for rational therapy? Trends Mol Med,
17 (8), 442-451. doi:10.1016/j.molmed.2011.04.002
Gurevich, V. V., & Benovic, J. L. (1993). Visual arrestin interaction
with rhodopsin. Sequential multisite binding ensures strict selectivity
toward light-activated phosphorylated rhodopsin. J Biol Chem,
268 (16), 11628-11638.
Hiramatsu, N., Chiang, W. C., Kurt, T. D., Sigurdson, C. J., & Lin, J.
H. (2015). Multiple Mechanisms of Unfolded Protein Response-Induced Cell
Death. Am J Pathol, 185 (7), 1800-1808.
doi:10.1016/j.ajpath.2015.03.009
Hirsch, J. A., Schubert, C., Gurevich, V. V., & Sigler, P. B. (1999).
The 2.8 A crystal structure of visual arrestin: a model for arrestin’s
regulation. Cell, 97 (2), 257-269.
doi:10.1016/s0092-8674(00)80735-7
Holden, B. A., Fricke, T. R., Wilson, D. A., Jong, M., Naidoo, K. S.,
Sankaridurg, P., . . . Resnikoff, S. (2016). Global Prevalence of Myopia
and High Myopia and Temporal Trends from 2000 through 2050.Ophthalmology, 123 (5), 1036-1042.
doi:10.1016/j.ophtha.2016.01.006
Kohl, S., Zobor, D., Chiang, W. C., Weisschuh, N., Staller, J., Gonzalez
Menendez, I., . . . Lin, J. H. (2015). Mutations in the unfolded protein
response regulator ATF6 cause the cone dysfunction disorder
achromatopsia. Nat Genet, 47 (7), 757-765. doi:10.1038/ng.3319
Kroeger, H., Chiang, W. C., Felden, J., Nguyen, A., & Lin, J. H.
(2019). ER stress and unfolded protein response in ocular health and
disease. FEBS J, 286 (2), 399-412. doi:10.1111/febs.14522
Kuhn, H., Hall, S. W., & Wilden, U. (1984). Light-induced binding of
48-kDa protein to photoreceptor membranes is highly enhanced by
phosphorylation of rhodopsin. FEBS Lett, 176 (2), 473-478.
doi:10.1016/0014-5793(84)81221-1
Li, J., Wang, J. J., Yu, Q., Wang, M., & Zhang, S. X. (2009).
Endoplasmic reticulum stress is implicated in retinal inflammation and
diabetic retinopathy. FEBS Lett, 583 (9), 1521-1527.
doi:10.1016/j.febslet.2009.04.007
Lobo, G. P., Au, A., Kiser, P. D., & Hagstrom, S. A. (2016).
Involvement of Endoplasmic Reticulum Stress in TULP1 Induced Retinal
Degeneration. PLoS One, 11 (3), e0151806.
doi:10.1371/journal.pone.0151806
Mendes, H. F., van der Spuy, J., Chapple, J. P., & Cheetham, M. E.
(2005). Mechanisms of cell death in rhodopsin retinitis pigmentosa:
implications for therapy. Trends Mol Med, 11 (4), 177-185.
doi:10.1016/j.molmed.2005.02.007
Morgan, I. G., Ohno-Matsui, K., & Saw, S. M. (2012). Myopia.Lancet, 379 (9827), 1739-1748. doi:10.1016/S0140-6736(12)60272-4
Murakami, A., Yajima, T., Sakuma, H., McLaren, M. J., & Inana, G.
(1993). X-arrestin: a new retinal arrestin mapping to the X chromosome.FEBS Lett, 334 (2), 203-209. doi:10.1016/0014-5793(93)81712-9
Niethamer, T. K., Teng, T., Franco, M., Du, Y. X., Percival, C. J., &
Bush, J. O. (2020). Aberrant cell segregation in the craniofacial
primordium and the emergence of facial dysmorphology in
craniofrontonasal syndrome. PLoS Genet, 16 (2), e1008300.
doi:10.1371/journal.pgen.1008300
Nikonov, S. S., Brown, B. M., Davis, J. A., Zuniga, F. I., Bragin, A.,
Pugh, E. N., Jr., & Craft, C. M. (2008). Mouse cones require an
arrestin for normal inactivation of phototransduction. Neuron,
59 (3), 462-474. doi:10.1016/j.neuron.2008.06.011
Oshitari, T., Yoshida-Hata, N., & Yamamoto, S. (2011). Effect of
neurotrophin-4 on endoplasmic reticulum stress-related neuronal
apoptosis in diabetic and high glucose exposed rat retinas.Neurosci Lett, 501 (2), 102-106. doi:10.1016/j.neulet.2011.06.057
Pfister, C., Chabre, M., Plouet, J., Tuyen, V. V., De Kozak, Y., Faure,
J. P., & Kuhn, H. (1985). Retinal S antigen identified as the 48K
protein regulating light-dependent phosphodiesterase in rods.Science, 228 (4701), 891-893. doi:10.1126/science.2988124
Saw, S. M. (2003). A synopsis of the prevalence rates and environmental
risk factors for myopia. Clin Exp Optom, 86 (5), 289-294.
doi:10.1111/j.1444-0938.2003.tb03124.x
Saw, S. M., Katz, J., Schein, O. D., Chew, S. J., & Chan, T. K. (1996).
Epidemiology of myopia. Epidemiol Rev, 18 (2), 175-187.
doi:10.1093/oxfordjournals.epirev.a017924
Skorczyk-Werner, A., Chiang, W. C., Wawrocka, A., Wicher, K.,
Jarmuz-Szymczak, M., Kostrzewska-Poczekaj, M., . . . Krawczynski, M. R.
(2017). Autosomal recessive cone-rod dystrophy can be caused by
mutations in the ATF6 gene. Eur J Hum Genet, 25 (11), 1210-1216.
doi:10.1038/ejhg.2017.131
Smedley, D., Jacobsen, J. O., Jager, M., Kohler, S., Holtgrewe, M.,
Schubach, M., . . . Robinson, P. N. (2015). Next-generation diagnostics
and disease-gene discovery with the Exomiser. Nat Protoc, 10 (12),
2004-2015. doi:10.1038/nprot.2015.124
Tang, L., Zhang, Y., Jiang, Y., Willard, L., Ortiz, E., Wark, L., . . .
Lin, D. (2011). Dietary wolfberry ameliorates retinal structure
abnormalities in db/db mice at the early stage of diabetes. Exp
Biol Med (Maywood), 236 (9), 1051-1063. doi:10.1258/ebm.2011.010400
Twigg, S. R., Babbs, C., van den Elzen, M. E., Goriely, A., Taylor, S.,
McGowan, S. J., . . . Wilkie, A. O. (2013). Cellular interference in
craniofrontonasal syndrome: males mosaic for mutations in the X-linked
EFNB1 gene are more severely affected than true hemizygotes. Hum
Mol Genet, 22 (8), 1654-1662. doi:10.1093/hmg/ddt015
Twigg, S. R., Kan, R., Babbs, C., Bochukova, E. G., Robertson, S. P.,
Wall, S. A., . . . Wilkie, A. O. (2004). Mutations of ephrin-B1 (EFNB1),
a marker of tissue boundary formation, cause craniofrontonasal syndrome.Proc Natl Acad Sci U S A, 101 (23), 8652-8657.
doi:10.1073/pnas.0402819101
Valencia, C. A., Husami, A., Holle, J., Johnson, J. A., Qian, Y.,
Mathur, A., . . . Zhang, K. (2015). Clinical Impact and
Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A
Pediatric Center’s Experience. Front Pediatr, 3 , 67.
doi:10.3389/fped.2015.00067
Vishnivetskiy, S. A., Sullivan, L. S., Bowne, S. J., Daiger, S. P.,
Gurevich, E. V., & Gurevich, V. V. (2018). Molecular Defects of the
Disease-Causing Human Arrestin-1 C147F Mutant. Invest Ophthalmol
Vis Sci, 59 (1), 13-20. doi:10.1167/iovs.17-22180
Wacker, W. B., Donoso, L. A., Kalsow, C. M., Yankeelov, J. A., Jr., &
Organisciak, D. T. (1977). Experimental allergic uveitis. Isolation,
characterization, and localization of a soluble uveitopathogenic antigen
from bovine retina. J Immunol, 119 (6), 1949-1958.
Walter, P., & Ron, D. (2011). The unfolded protein response: from
stress pathway to homeostatic regulation. Science, 334 (6059),
1081-1086. doi:10.1126/science.1209038
Wieacker, P., & Wieland, I. (2005). Clinical and genetic aspects of
craniofrontonasal syndrome: towards resolving a genetic paradox.Mol Genet Metab, 86 (1-2), 110-116.
doi:10.1016/j.ymgme.2005.07.017
Wieland, I., Jakubiczka, S., Muschke, P., Cohen, M., Thiele, H.,
Gerlach, K. L., . . . Wieacker, P. (2004). Mutations of the ephrin-B1
gene cause craniofrontonasal syndrome. Am J Hum Genet, 74 (6),
1209-1215. doi:10.1086/421532
Xiao, X., Li, S., Jia, X., Guo, X., & Zhang, Q. (2016). X-linked
heterozygous mutations in ARR3 cause female-limited early onset high
myopia. Mol Vis, 22 , 1257-1266.
Yan, S., Zheng, C., Chen, Z. Q., Liu, R., Li, G. G., Hu, W. K., . . .
Li, B. (2012). Expression of endoplasmic reticulum stress-related
factors in the retinas of diabetic rats. Exp Diabetes Res, 2012 ,
743780. doi:10.1155/2012/743780
Young, T. L. (2009). Molecular genetics of human myopia: an update.Optom Vis Sci, 86 (1), E8-E22. doi:10.1097/OPX.0b013e3181940655
Young, T. L., Metlapally, R., & Shay, A. E. (2007). Complex trait
genetics of refractive error. Arch Ophthalmol, 125 (1), 38-48.
doi:10.1001/archopht.125.1.38
Zhan, X., Perez, A., Gimenez, L. E., Vishnivetskiy, S. A., & Gurevich,
V. V. (2014). Arrestin-3 binds the MAP kinase JNK3alpha2 via multiple
sites on both domains. Cell Signal, 26 (4), 766-776.
doi:10.1016/j.cellsig.2014.01.001
Zode, G. S., Kuehn, M. H., Nishimura, D. Y., Searby, C. C., Mohan, K.,
Grozdanic, S. D., . . . Sheffield, V. C. (2011). Reduction of ER stress
via a chemical chaperone prevents disease phenotypes in a mouse model of
primary open angle glaucoma. J Clin Invest, 121 (9), 3542-3553.
doi:10.1172/JCI58183
Zode, G. S., Sharma, A. B., Lin, X., Searby, C. C., Bugge, K., Kim, G.
H., . . . Sheffield, V. C. (2014). Ocular-specific ER stress reduction
rescues glaucoma in murine glucocorticoid-induced glaucoma. J Clin
Invest, 124 (5), 1956-1965. doi:10.1172/JCI69774