• Journal of Genetic Medicine
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• v.17 no.1
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• pp.39-42
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• 2020

The Senior-Loken syndrome was first described in 1961 as an oculo-renal disease consisting of familial juvenile nephronophthisis and Leber congenital amaurosis. It is a rare autosomal recessive disorder with a prevalence of 1:1,000,000 caused by mutations in nine genes (NPHP 1-8 and NPHP 10). Ocular manifestations (e.g., photophobia, nystagmus, and extreme hyperopia) occur within the first few years of life while renal manifestations (e.g., formation of multiple cysts impairing kidney function and end-stage renal disease) appear in late childhood to adolescence. Here, we report a case of a Filipino male presenting with rotatory nystagmus and progressive deterioration of vision since childhood. He had congenital amaurosis and juvenile nephronophthisis that progressed to end stage renal disease by age 19. All laboratory and imaging findings were consistent with chronic kidney disease. Molecular genetic testing of ciliopathy-related genes was performed revealing a homozygous mutation in exon 11 of the IQCB1/NPHP5 gene, c.1090C>T (p.Arg364^⁎). This sequence change created a premature translational stop signal resulting in a truncated protein product, nephrocystin-5 and its consequent loss of function. His symptoms eventually improved with initiation dialysis. The prognosis of Senior-Loken syndrome remains dismal and a high index of suspicion, early diagnosis and timely intervention of renal complications are warranted.

• Development and Reproduction
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• v.25 no.4
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• pp.235-244
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• 2021

Interferon Regulatory Factor 3 (IRF3) is a member of interferon-regulated transcription factor family and is known to play an important role in the innate immune response against viral infections. In this study, the expression of IRF3 in different tissues, developmental stages, and stocking densities of olive flounder was investigated. The expression of IRF3 was observed to gradually increase in early-stage juvenile fish. The highest expression was observed in later-stage juvenile fish when immune tissues were formed. High IRF3 expression was observed in the muscles and the brain tissues. The expression of IRF3 was observed in fish at different stocking densities after viral hemorrhagic septicemia virus (VHSV) infection. It yielded an interesting expression pattern in the muscles and the brain tissues of fish stocked at low density. These observations can be used as basic data for the study of the expression of immune response-related genes against viruses based on stocking density and immune systems in other fish species.

• Development and Reproduction
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• v.16 no.3
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• pp.185-193
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• 2012

For the gonadal sex management of younger longtooth grouper (Epinephelus bruneus), this work investigated the timing and histological process of ovary differentiation and oocyte development of longtooth grouper larvae and juvenile. Specimens (from 1 to 365 DAH) were collected for gonadal histological study from June 2008 to August 2009. Rearing water temperature was ranged from 20 to $24^{\circ}C$. The primordial germ cells could be observed from 10 to 15 DAH, while undifferentiated gonad occurs from 20 to 50 DAH in longtooth grouper. The initial ovarian phase was 60 to 110 DAH with the formation of ovarian cavity and the increased in size of gonad. The ovarian phase started at 140 DAH with appearance of oogonia. The gonad at 365 DAH appeared to have full of oogonia and primary growth stage oocyte. Formation of ovarian cavity indicates that the ovarian differentiation beginning at 60 DAH in longtooth grouper. The gonads in longtooth grouper differentiated directly into ovaries in all fish examined.

• Childhood Kidney Diseases
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• v.11 no.1
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• pp.112-117
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• 2007

Although juvenile nephronophthisis(NPHP) is one of the most frequent genetic causes of chronic renal failure, it has very rarely been reported in Korean children. Most NPHP patients are found to have chronic renal failure, since there are no distinct clinical symptoms for NPHP except polydipsia, polyuria and enuresis in the early stage of disease. Ten percent of NPHP patients manifest retinitis pigmentosa, called $Senior-L\ddot{o}ken$ syndrome. We experienced 2 cases of $Senior-L\ddot{o}ken$ syndrome that occurred in siblings(a 10 year-old boy and a 14-year-old girl) who were diagnosed with Leber's amaurosis. They were found to have severe renal impairment without polydipsia and polyuria. However, no large homogenous deletion of the NPHPI(2q13) gene was not identified in these patients. We report here on these cases and we review the literature to emphasize the association between Leber's amaurosis and the development of chronic renal failure.

• Development and Reproduction
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• v.23 no.2
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• pp.171-181
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• 2019

To produce healthy and stable seed production, we need to obtain information and understand vision that affects behavior of red spotted grouper. We examined their expression and retinal development during the juvenile development. Short-wavelength sensitive opsin (SWS2), a cone photoreceptor, began to be expressed from lens and ear vesicle formation stage and its expression increased until 10 days after hatching (dah). In case of middle-wavelength sensitive opsin (MWS), its expression was detected at 3 dah and reached the highest level at 21 dah. The expression of long-wavelength sensitive opsin (LWS) was first observed from 3 dah and their expression decreased thereafter. Rhodopsin, a rod photoreceptor, was found to be expressed from 2 dah and its expression reached the highest level at 50 dah. The outer nuclear layer (ONL), inner nuclear layer (INL) and ganglion cell layer began to differentiate at 2 dah, while choroid first appeared at 4 dah so that the eyes became black. These results indicate that the development of retina mostly completes around 4 dah. It seems that the development of the retina and the expression of the opsin genes are closely related to the behavior such as hunting prey, considering that the timing of the completion of the development of the retina, the timing of gene expression, and the timing of completion of yolk absorption are similar.

• Korean Journal of Ichthyology
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• v.6 no.2
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• pp.237-243
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• 1994

This work was conducted to study sex differentiation in the black sea bream, Acanthopagrus schlegeli (Bleeker), using a histological method for the appearance of primordial germ cell, formation of primitive gonads, differentiation of female and male from newly hatched larva to the ovotestis stage of fish. The 3~4 primordial germ cells of $6.8{\sim}7.2\;{\mu}m$ in size, which were buried under fibrous mesenchymal tissue between gut duct and notochord of pre-larva with a total length (T.L.) of 2.4 mm at 3 days after hatching. The proto-gonial cells were located in the epithelium of the coelom attached with pigment cells of juvenile with 6.4 mm in T.L. at 21 days after hatching. In juvenile of 20.8 mm in T.L. at 59 days after hatching, the proto-gonial cells were migrated to the retro-peritoneum through the lineshaped primitive gonad composed of fibrous mesenchymal tissue. In juvenile of 7.8 em in T.L. at 186 days after hatching, the mitotic division of proto-gonial cell appeared in the lineshaped primitive gonad having many eosinophilic granule cells and abundant fibrous connective tissue. In juvenile of 9.5 em in T.L. at 254 days after hatching, the gonad was occupied by abundant fibrous connective tissue, bundles of spermatocyte and spermatid. In juvenile of 10.5 cm in T.L. at 13 months after hatching, the gonad was divided into cortical layer and medullary layer. The former was composed of bundles of a few spermatocytes and proto-gonial cells, the latter was filled with the fibrous mesenchymal tissue and a few proto-gonial cells. In juvenile of 14.7 em in T.L. at 16 months after hatching, the gonad was separated into ovarian part and testicular part by the fibrous connective tissue. The ovarian part is consisted of ovarian cavity and oocytes of perinucleolus stage. The testicular part was occupied by spermatogonia in the cyst.

• Proceedings of the Korean Society of Fisheries Technology Conference
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• 2002.05a
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• pp.359-360
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• 2002

To investigate the food organisms of the Tridentiger trigonocephalus during the juveniles stage, the stomach contents of fish, captured in the intertidal zone of Chungchongnam-do Sochon-gun Su-myon Dodun-ri between on early June from end if may 1999, were observed. Total length of the juveniles of T. trigonocephalus was 5.5mm∼9.0mm size, and the participation rate of feeding was 68.5%. Main food organisms were such as copepods, amphipods, shrimp larvae, polychaete larvae, and these occupied more than dry weight 2%. Copepods among them dominated the most quantitys by average 67.5%, and next, food organismsms appeared much by order of polychaete larvae and shrimp larvae etc.. Therefore, most important food organisms of juvenile stage of T. trigonocephalus were copepods, polychaete larvae, shrimp larvae etc.

• Proceedings of the Korean Aquaculture Society Conference
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• 2005.05a
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• pp.80-81
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• 2005

To investigate the food organisms of the Acanthogobius hasta during the juveniles stage, the stomach contents of fish, captured in the intertidal zone of Chungchong- nam-do Sochon-gun Su-myon Dodun-ri (Fig. 1) between on early June from end of May 2003, were observed. Total length of the juveniles of A. hasta was 5.5 mm ${\sim}$ 8.9 mm size, and the participation rate of feeding was 69.6%. Main food organisms were such as copepods, decapods, polychaete larvae, amphipods and these occupied more than dry weight 3.9%. Copepods among them dominated the most quantitys by average 62.7%, and next, food organisms appeared much by order of decapods, polychaete larvae and amphipods etc.. Therefore, most important food organisms of juvenile stage of A. hasta were copepods, decapods, polychaete larvae, amphipods etc.

• Proceedings of the Korean Aquaculture Society Conference
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• 2005.05a
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• pp.82-83
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• 2005

To investigate the food organisms of the Chaenogobius mororanus during the juveniles stage, the stomach contents of fish, captured in the intertidal zone of Chungchong- nam-do Sochon-gun Su-myon Dodun-ri (Fig. 1) between on early June from end of May 2003, were observed. Total length of the juveniles of C. mororanus was 5.0 mm ${\sim}$ 8.4 mm size, and the participation rate of feeding was 71.4%. Main food organisms were such as copepods, decapods, polychaete larvae, amphipods and these occupied more than dry weight 3.9%. Copepods among them dominated the most quantitys by average 62.0%, and next, food organisms appeared much by order of decapods, polychaete larvae and amphipods etc.. Therefore, most important food organisms of juvenile stage of C. mororanus were copepods, decapods, polychaete larvae, amphipods etc.

• Proceedings of the Korean Aquaculture Society Conference
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• 2002.08a
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• pp.225-226
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• 2002

To investigate the food organisms of the Tridentiger trigonocephalus during the juveniles stage, the stomach contents of fish, captured in the intertidal zone of Chungchongnam-do Sochon-gun Su-myon Dodun-ri getween on early June from end of May 1999, were observed. Total length of the juveniles of T. trigonocephalus was 5.5mm∼9.0mm size, and the participation rate of feeding was 68.5%. Main food organisms were such as copepods, shrimp larvae, polychaete larvae, and these occupied more than dry weight 2%. Copepods among them dominated the most quantitys by average 67.5%, and next, food organismsms appeared much by order of polychaete larvae and shrimp larvae etc.. Therefore, most important food organisms of juvenile stage of T. trigonocephalus were copepods, polychaete larvae, shrimp larvae etc.