Search

Your search keyword '"Sun, Zixi"' showing total 161 results
Start Over Author "Sun, Zixi"
161 results on '"Sun, Zixi"'

15. Clinical and Molecular Features of a Chinese Cohort With Syndromic and Nonsyndromic Retinal Dystrophies Related to the CEP290 Gene

Author

Zhu, Tian, primary, Shen, Yue, additional, Sun, Zixi, additional, Han, Xiaoxu, additional, Wei, Xing, additional, Li, Wuyi, additional, Lu, Chao, additional, Cheng, Tingting, additional, Zou, Xuan, additional, Li, Hui, additional, Cao, Zongfu, additional, Gao, Huafang, additional, Ma, Xu, additional, Luo, Minna, additional, and Sui, Ruifang, additional

Published
2023
Full Text
View/download PDF

19. Mutations in BCOR , a co-repressor of CRX/OTX2 , are associated with early-onset retinal degeneration

Author

Langouët, Maéva, primary, Jolicoeur, Christine, additional, Javed, Awais, additional, Mattar, Pierre, additional, Gearhart, Micah D., additional, Daiger, Stephen P., additional, Bertelsen, Mette, additional, Tranebjærg, Lisbeth, additional, Rendtorff, Nanna D., additional, Grønskov, Karen, additional, Jespersgaard, Catherine, additional, Chen, Rui, additional, Sun, Zixi, additional, Li, Hui, additional, Alirezaie, Najmeh, additional, Majewski, Jacek, additional, Bardwell, Vivian J., additional, Sui, Ruifang, additional, Koenekoop, Robert K., additional, and Cayouette, Michel, additional

Published
2022
Full Text
View/download PDF

21. Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration

Author

Langouët, Maéva, Jolicoeur, Christine, Javed, Awais, Mattar, Pierre, Gearhart, Micah D., Daiger, Stephen P., Bertelsen, Mette, Tranebjærg, Lisbeth, Rendtorff, Nanna D., Grønskov, Karen, Jespersgaard, Catherine, Chen, Rui, Sun, Zixi, Li, Hui, Alirezaie, Najmeh, Majewski, Jacek, Bardwell, Vivian J., Sui, Ruifang, Koenekoop, Robert K., Cayouette, Michel, Langouët, Maéva, Jolicoeur, Christine, Javed, Awais, Mattar, Pierre, Gearhart, Micah D., Daiger, Stephen P., Bertelsen, Mette, Tranebjærg, Lisbeth, Rendtorff, Nanna D., Grønskov, Karen, Jespersgaard, Catherine, Chen, Rui, Sun, Zixi, Li, Hui, Alirezaie, Najmeh, Majewski, Jacek, Bardwell, Vivian J., Sui, Ruifang, Koenekoop, Robert K., and Cayouette, Michel

Abstract

Many transcription factors regulating the production, survival, and function of photoreceptor cells have been identified, but little is known about transcriptional co-regulators in retinal health and disease. Here, we show that BCL6 co-repressor (BCOR), a Polycomb repressive complex 1 factor mutated in various cancers, is involved in photoreceptor degenerative diseases. Using proteomics and transcription assays, we report that BCOR interacts with the transcription factors CRX and OTX2 and reduces their ability to activate the promoters of photoreceptor-specific genes. CUT&RUN sequencing further shows that BCOR shares genome-wide binding profiles with CRX/OTX2, consistent with a general co-repression activity. We also identify missense mutations in human BCOR in five families that have no evidence of cancer but present severe early-onset X-linked retinal degeneration. Last, we show that the human BCOR mutants cause degeneration when expressed in the mouse retina and have enhanced repressive activity on OTX2. These results uncover a role for BCOR in photoreceptors in both health and disease.

Published
2022

23. Novel homozygous variant in ARL2BP associated with retinitis pigmentosa, situs inversus, and male infertility in a Chinese patient.

Author

Zhu, Tian, Li, Hui, Wei, Xing, Li, Wuyi, Sun, Zixi, and Sui, Ruifang

Subjects
SITUS inversus, RETINITIS pigmentosa, MALE infertility, OLIGOSPERMIA, SMELL disorders
Abstract

ARL2BP is a ciliary gene associated with multiple ciliopathy phenotypes. On comprehensive clinical examinations using molecular methods, we identified a Chinese patient from a consanguineous family carrying a novel homozygous variant c.22_23delAG (p.S8Lfs*10) in ARL2BP, presenting with retinitis pigmentosa (RP), situs inversus totalis, and oligozoospermia. Situs inversus and male infertility have never been reported in the same patient with ARL2BP variants; therefore, this a novel ARL2BP‐associated phenotypic triad of RP, situs inversus, and male infertility. Moreover, this patient likely had olfactory dysfunction susceptibility and presented with anosmia. We found reduced patient‐derived fibroblast proliferation and ciliary length. Our findings expand the genotypic spectrum and reveal abnormal cell proliferation and ciliogenesis in ARL2BP‐associated patients. [ABSTRACT FROM AUTHOR]

Published
2023
Full Text
View/download PDF

34. Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities

Author

Sun, Zixi, Zhou, Qi, Li, Huajin, Yang, Lizhu, Wu, Shijing, and Sui, Ruifang

Subjects
Adult, Male, genetic structures, Genotype, DNA Mutational Analysis, High-Throughput Nucleotide Sequencing, Middle Aged, eye diseases, Cataract, Pedigree, Young Adult, Phenotype, Asian People, Mutation, beta-Crystallin B Chain, Humans, Female, sense organs, Eye Abnormalities, gamma-Crystallins, Research Article, Aged
Abstract

Purpose This study aims to describe the phenotypes and identify pathogenic mutations in Chinese patients who have congenital cataracts associated with other ocular abnormalities. Methods Eleven patients from four unrelated Chinese families plus two simplex cases were enrolled in this study. Detailed ophthalmic examinations were performed. DNA samples were isolated from peripheral blood collected from the patients. Next-generation sequencing of known ocular genes was applied to the proband of each family and two simplex cases to find pathogenic variances. PCR and Sanger sequencing were conducted for validation and segregation tests. Results All 13 patients had congenital cataracts, and other ocular abnormalities were found in some cases. Microcornea was found in 12 subjects, and ocular coloboma was observed in five. Various types of coloboma, including iris, choroid, macular, and optic disc, were described. Five mutations in crystallin genes were identified. Four of the mutations are novel: CRYBB1: p.(Arg230Cys), CRYBB2: p.(Gly149Val), CRYGC: p.(Met44CysfsTer59), and CRYGC: p.(Tyr144Ter). One mutation was reported previously: CRYAA: p.(Arg21Trp). Conclusions We examined a cohort of Chinese patients with congenital cataracts and studied the phenotypes and genotypes. Extralenticular abnormalities, such as microcornea and ocular coloboma, can also be found in patients with congenital cataracts. The phenotype of congenital cataracts associated with macular and optic disc coloboma was reported for the first time in this study. Four novel mutations and one previously reported mutation were identified. These data expand the mutation spectrum in crystallin genes and enhance our understanding of the phenotypes of congenital cataracts.

Published
2017

35. Spatial Functional Characteristics of East Asian Patients With Occult Macular Dystrophy (Miyake Disease); EAOMD Report No. 2

Author

Yang, Lizhu, primary, Joo, Kwangsic, additional, Tsunoda, Kazushige, additional, Kondo, Mineo, additional, Fujinami-Yokokawa, Yu, additional, Arno, Gavin, additional, Pontikos, Nikolas, additional, Liu, Xiao, additional, Nakamura, Natsuko, additional, Kurihara, Toshihide, additional, Tsubota, Kazuo, additional, Iwata, Takeshi, additional, Li, Hui, additional, Zou, Xuan, additional, Wu, Shijing, additional, Sun, Zixi, additional, Ahn, Seong Joon, additional, Kim, Min Seok, additional, Mun, Yong Seok, additional, Park, Kyu Hyung, additional, Robson, Anthony G., additional, Miyake, Yozo, additional, Woo, Se Joon, additional, Sui, Ruifang, additional, and Fujinami, Kaoru, additional

Published
2021
Full Text
View/download PDF

39. Determination of interfacial heat transfer coefficients for squeeze casting of magnesium alloy AZ91 with various section thicknesses.

Author

Ren, Luyang, Fu, Yintian, Sun, Zixi, and Hu, Henry

Subjects
SQUEEZE casting, HEAT transfer coefficient, MAGNESIUM alloys, STEEL founding, HEAT conduction, MOLDS (Casts & casting)
Abstract

In the present work, a step die was made by P20 steel for squeeze casting magnesium alloy AZ91 with five different section thicknesses of 2, 4, 8, 12, and 20 mm under an applied pressure of 60MPa. K-type thermocouples were utilised to measure temperatures of the squeeze casting surfaces as well as three different depths, i.e., 2, 4, and 8 mm from the mould inner wall at each step. With the temperature measurements, interfacial heat transfer coefficients (IHTC) at the casting and mould inner surface and heat fluxes were determined by solving one-dimensional heat conduction formulae using the inverse method. The results of the calculated IHTCs showed that, upon the commencement of squeeze casting, the IHTC values for all the five steps rose very rapidly. Before decreasing, the IHTC at each step reached its own individual peaks. As the section step thickness changed from 2 mm (step 1) to 20 mm (step 5), the IHTC peak values increased significantly. It took comparatively longer time for a thicker step to reach its peak IHTC value, and also to descend its IHTC to a low and steady level. [ABSTRACT FROM AUTHOR]

Published
2022
Full Text
View/download PDF

40. Leber congenital amaurosis as an initial manifestation in a Chinese patient with thiamine‐responsive megaloblastic anemia syndrome.

Author

Wu, Shijing, Yuan, Zhisheng, Sun, Zixi, Yao, Fengxia, and Sui, Ruifang

Abstract

Thiamine‐responsive megaloblastic anemia syndrome (TRMA) is an autosomal recessive disorder, inherited by the defective SLC19A2 gene that encodes a high‐affinity thiamine transporter (THTR‐1). TRMA is characterized by the occurrence of classical triad manifestations including megaloblastic anemia, diabetes mellitus, and sensorineural deafness. In addition to the systemic manifestations, ophthalmic features can be present and include retinitis pigmentosa, optic atrophy, cone‐rod dystrophy, maculopathy, and Leber congenital amaurosis. Here we report a 6‐year‐old boy presenting severe early‐onset retinal dystrophy with the initial diagnosis of Leber congenital amaurosis, which followed for 12 years. Diabetes mellitus occurred 3 years after vision problem. Eosinophilic granuloma of the left scapula was confirmed at 13 years old. Whole‐exome sequencing was performed to identify two novel compound heterozygous variants c.725dupC (p.Ala243Serfs*3) and c.121G>A (p.Gly41Ser) in SLC19A2 gene (NM_006996.3). Oral thiamine supplementation treatment was initiated at 13 years. This case demonstrates Leber congenital amaurosis can present as the first clinical feature before systemic manifestations. Phenotypic variety should be aware and multidisciplinary teamwork and regular follow‐up are important for TRMA patient care. [ABSTRACT FROM AUTHOR]

Published
2022
Full Text
View/download PDF

49. Effect of Plasma Electrolytic Oxidation Coating on Tensile Properties of High Pressure Die Cast Magnesium Alloy AZ91

Author

Sun, Zixi

Subjects
PEO Coating, Section Thickness, Mehcnical Properties, AZ91
Abstract

Magnesium alloy AZ91 is high pressure die cast (HPDC) into rectangular coupons with the section thicknesses of 2, 6 and 10 mm. The first group of samples is employed to investigate the effect of section thicknesses on tensile properties, strain-hardening and fracture behaviours of the die cast AZ91. The results of tensile testing indicate that the ultimate tensile strength (UTS), yield strength (YS), elongation (ef), modulus(E), toughness(Ut) and resilience(Ur) decrease to 129.17, 110.59 MPa, 0.37%, 25.9 GPa, 0.89 MJ/m3, and 236.10 kJ/m3 from 245.54, 169.26 MPa, 4.07%, 37.8 GPa, 8.34 MJ/m3, and 378.95 kJ/m3 with increasing the section thicknesses of die cast AZ91 to 10 mm from 2 mm, respectively. The analysis of true stress vs. strain curves shows that the straining hardening rates increases with decreasing the section thickness to 2 mm from 10 m. The analyses of scanning electron microscopy (SEM) reveal that the high tensile properties of the HPDC Mg alloy AZ91 with the thin section thickness should be attributed to the low porosity level, fine dendrite structure, high eutectic content, and relatively thick skin. The observation via SEM fractography illustrates that the fracture behaviour of die cast AZ91 is influenced by section thicknesses. As the section thickness increases, the fracture of AZ91 tends to transit from ductile to brittle mode due to arising porosity content and coarsening microstructure. The second group of samples is employed to study the effect of plasma electrolytic oxidation (PEO) coating on tensile properties of the HPDC Mg alloy AZ91. The tensile test results show that the PEO coating reduces the UTS and YS of the 2 and 6 mm samples, but slightly enhance the tensile properties of 10 mm sample. The SEM analysis reveals that the differences in the size and content of pores between the substrate and the ceramic coating should be responsible for the change in the tensile properties.

Published
2019

Catalog

Books, media, physical & digital resources
See catalog results