Article
Biochemistry & Molecular Biology
Flora Delas, Samuel Koller, Silke Feil, Ivanka Dacheva, Christina Gerth-Kahlert, Wolfgang Berger
Summary: This study identified a novel missense mutation in the CRYGC gene as the underlying genetic cause of isolated congenital cataract in a Swiss patient. The mutation in exon 3 resulted in the substitution of a highly conserved tryptophan residue, leading to cataract formation. The findings contribute to a better understanding of the genetic heterogeneity of cataract.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Ophthalmology
Zhi-Bo Lin, Jin Li, Lu Ye, Hai-Sen Sun, A-Yong Yu, Shi-Hao Chen, Fen-Fen Li
Summary: A novel missense mutation in the SOX2 gene was identified in a Han Chinese family with congenital cataract and microcornea. This finding expands the mutation spectrum of SOX2 and provides useful information for studying the molecular pathogenesis of CCMC.
Article
Cell Biology
Aixia Jin, Qingqing Zhao, Shuting Liu, Zi-bing Jin, Shuyan Li, Mengqing Xiang, Mingbing Zeng, Kangxin Jin
Summary: A new mutation in GJA8 causing congenital cataract was identified and its functional impact was revealed. This finding expands the pathogenic mutation spectrum of Cx50 underlying cataract, providing more support for clinical diagnosis and genetic counseling.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Article
Clinical Neurology
Andrea Cortese, Riccardo Curro, Riccardo Ronco, Julian Blake, Alex M. Rossor, Enrico Bugiardini, Matilde Laura, Tom Warner, Tarek Yousry, Roy Poh, James Polke, Adriana Rebelo, Maike F. Dohrn, Mario Saporta, Henry Houlden, Stephan Zuchner, Mary M. Reilly
Summary: Mutations in the CRYAB gene have been associated with myofibrillar myopathy, dilated cardiomyopathy, and cataracts. This study reports peripheral neuropathy as a novel phenotype associated with CRYAB, particularly in cases with late onset CMT2 and congenital cataracts.
EUROPEAN JOURNAL OF NEUROLOGY
(2023)
Article
Medicine, General & Internal
Tao Zhang, Jingshan Bai, Xinyi Zhang, Xiaowei Zheng, Nan Lu, Zhongyin Liang, Ling Lin, Yongsong Chen
Summary: This study identified a novel heterozygous SNRNP200(c.C6088T) mutation that causes retinitis pigmentosa through a dominant-negative effect.
FRONTIERS IN MEDICINE
(2021)
Article
Urology & Nephrology
Florian J. Wopperer, Karl X. Knaup, Kira J. Stanzick, Karen Schneider, Tilman Jobst-Schwan, Arif B. Ekici, Steffen Uebe, Andrea Wenzel, Stefan Schliep, Carsten Schuerfeld, Randolf Seitz, Wanja Bernhardt, Markus Goedel, Antje Wiesener, Bernt Popp, Klaus J. Stark, Hermann-Josef Groene, Bjoern Friedrich, Martin Weiss, Nikolina Basic-Jukic, Mario Schiffer, Bernd Schroeppel, Bruno Huettel, Bodo B. Beck, John A. Sayer, Christine Ziegler, Maike Buettner-Herold, Kerstin Amann, Iris M. Heid, Andre Reis, Francesca Pasutto, Michael S. Wiesener
Summary: In our ADTKD registry, a molecular genetic diagnosis was obtained for the majority of families, and novel candidate genes were identified through exome sequencing.
KIDNEY INTERNATIONAL
(2022)
Article
Biochemistry & Molecular Biology
Kai-Jie Wang, Xiao-Yan Liao, Kunxia Lin, Yi-Bo Xi, Sha Wang, Xiu-Hua Wan, Yong-Bin Yan
Summary: A novel F30S mutation in gamma S-crystallin was identified in a Chinese family with ADCC, leading to nuclear cataract phenotype. The mutation destabilized the protein, altered its unfolding process, and disrupted cooperativity between domains during unfolding, providing new insights into the molecular mechanism underlying ADCC caused by mutations in beta/gamma-crystallins.
INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES
(2021)
Article
Biochemistry & Molecular Biology
Abdullah Y. Hassan, Sairah Yousaf, Moran R. Levin, Osamah J. Saeedi, Saima Riazuddin, Janet L. Alexander, Zubair M. Ahmed
Summary: This study reports a case of recessively inherited congenital cataracts in an African American family and identifies a novel homozygous variant in the GJA3 gene. This finding sheds light on the genetic mechanism of congenital cataracts.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Cell Biology
Rinki Ratnapriya, Samuel G. Jacobson, Artur Cideciyan, Milton A. English, Alejandro J. Roman, Alexander Sumaroka, Rebecca Sheplock, Anand Swaroop
Summary: Despite advances in identifying causative genes, a family with dominant IRD was studied using whole exome sequencing. A novel pathogenic variant in the ARL3 gene was identified, further supporting its association with non-syndromic retinal degeneration.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Gastroenterology & Hepatology
Bernhard Schlevogt, Vincent Schlieper, Jana Krader, Rita Schroeter, Thomas Wagner, Matthias Weiand, Andree Zibert, Hartmut H. Schmidt, Carsten Bergmann, Pavel Nedvetsky, Michael P. Krahn
Summary: In this study, a variant in the SEC61A1 gene was identified to be associated with the development of polycystic liver disease. The mutant SEC61A1 protein was shown to undergo enhanced proteasomal degradation, resulting in impaired synthesis of polycystin-2.
LIVER INTERNATIONAL
(2023)
Article
Oncology
Chenyang Qi, Yunxuan He, Chun Jiang, Xiaoxue Zhang, Peiran Zhu, Weiwei Li, Hongjian Zhou, Chunyan Xue, Xinyi Xia
Summary: Congenital cataract is a common cause of visual impairment and blindness in children, with a significant portion attributed to genetic defects. This study identified and verified gene mutations in patients with cataract using clinical examination and genetic sequencing analysis. The identified mutations in CRYBA1/A3 and CRYBB2 genes were found to affect the protein structure and hydrophobicity, leading to reduced solubility and lens transparency. These findings expand the understanding of the genetic spectrum of congenital cataract and have implications for clinical diagnosis.
MOLECULAR MEDICINE REPORTS
(2023)
Article
Medicine, General & Internal
Maryam Hussain, Khushi Muhammad, Muhammad Khan, Aziz Ud Din
Summary: This study investigated a novel silent mutation in the CRYBB2 gene that causes autosomal dominant congenital cataract (ADCC) in Pakistani families. The mutation was detected using bioinformatics tools and molecular laboratory techniques.
PAKISTAN JOURNAL OF MEDICAL SCIENCES
(2023)
Article
Genetics & Heredity
Yasuo Suzuki, Kan Katayama, Ryosuke Saiki, Yosuke Hirabayashi, Tomohiro Murata, Eiji Ishikawa, Masaaki Ito, Kaoru Dohi
Summary: This study analyzed the genes of 50 ADPKD patients and identified mutations in PKD1, PKD2, and GANAB genes, which can assist in diagnosis and treatment of the disease.
Article
Cardiac & Cardiovascular Systems
Hidenori Yamamoto, Satoshi Hayano, Yusuke Okuno, Atsuto Onoda, Kohji Kato, Noriko Nagai, Yoshie Fukasawa, Shinji Saitoh, Yoshiyuki Takahashi, Taichi Kato
Summary: This study identified a novel ABL1 gene mutation causing a syndrome with congenital heart defects, finger contracture, skin abnormalities, and failure to thrive. Functional analysis and phosphorylated proteorne analysis confirmed the impact of the mutation on ABL1 activity and highlighted potential proteins involved in the disease phenotypes. Further research on the molecular mechanisms could provide insights for understanding the pathophysiology and developing treatment methods.
INTERNATIONAL JOURNAL OF CARDIOLOGY
(2021)
Article
Genetics & Heredity
Rani Saira Saleem, Sorath Noorani Siddiqui, Saba Irshad, Naeem Mahmood Ashraf, Arslan Hamid, Muhammad Azmat Ullah Khan, Muhammad Imran Khan, Shazia Micheal
Summary: This study investigates the genetic causes of congenital cataracts in Pakistani families and identifies novel pathogenic variants in the FYCO1 gene. The research highlights the significance of autophagy in lens development and transparency maintenance.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2022)
Article
Ophthalmology
Panpan Ye, Tiepei Zhu, Fang Zheng, Min Zhou, Xiaoyun Fang, Ke Yao
Summary: Younger patients with RVO showed better outcomes in terms of visual acuity, vessel density, and foveal avascular zone compared to older patients after anti-VEGF treatment. Improvement in vessel density was only observed in the younger group, and a positive correlation between vision improvement and vessel density increase was noted.
Article
Multidisciplinary Sciences
Yueyang Zhong, Kai Wang, Xiaoning Yu, Xin Liu, Ke Yao
Summary: Trifocal IOLs demonstrated better performance at near distance but apparently led to more photic disturbances, while the hybrid multifocal-EDOF group presented better performance in intermediate visual acuity.
SCIENTIFIC REPORTS
(2021)
Article
Instruments & Instrumentation
Wenjie Fan, Haijie Han, Yaoyao Chen, Xiaobo Zhang, Yifan Gao, Su Li, Qiao Jin, Jian Ji, Ke Yao
Summary: Ocular infection caused by bacteria and fungi is a major cause of visual impairment and blindness. Traditional treatment with eye drops is inefficient, while nanomedicine provides a promising platform for enhancing the delivery of antimicrobial agents to the eye.
DRUG DELIVERY AND TRANSLATIONAL RESEARCH
(2021)
Article
Ophthalmology
Huaxia Wang, Qing Tian, Jingjie Xu, Wanyue Xu, Ke Yao, Xiangjun Chen
Summary: Congenital cataracts, a genetically heterogeneous eye disorder, can be caused by the G91del mutation in the beta A3-crystallin, affecting its heteromers formation and resistance to thermal and chemical stress, leading to impaired cellular functions and apoptosis.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2022)
Article
Neurosciences
Yi-Xuan Feng, Ren-Yuan Li, Wei Wei, Zi-Jian Feng, Yun-Kai Sun, Hai-Yang Sun, Yi-Yuan Tang, Yu-Feng Zang, Ke Yao
Summary: The study found that congenital blind individuals and sighted controls showed similar differences in some brain regions between eyes-closed and eyes-open conditions, suggesting that responses to eye closure and opening may be inherent in the nature of humans.
Article
Ophthalmology
Chenqi Luo, Jingjie Xu, Chenxi Fu, Ke Yao, Xiangjun Chen
Summary: This study used a novel equipment called Uncle to investigate the stability of lens proteins with ageing under physiological conditions. The results showed that the structural stability and solubility of lens proteins decrease with age, and crystallin may form more oligomers in aged lenses. Additionally, lanosterol was found to improve solubility under environmental stress, making it a potential therapeutic option for cataracts.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Jian Liu, Wanyue Xu, Kaijie Wang, Fanrui Chen, Ling Ren, Jingjie Xu, Ke Yao, Xiangjun Chen
Summary: Congenital cataract, caused by abnormal aggregation of crystallin, is a common disease that leads to blindness in newborns worldwide. The L116P mutation in β B1-CRY affects the protein's structural stability, susceptibility to amyloid fibrils aggregation, and protease degradation, potentially contributing to cataract development and associated symptoms.
INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES
(2022)
Article
Biochemistry & Molecular Biology
Jing Wu, Wanyue Xu, Wei Wu, Jingjie Xu, Sifan Zheng, Xingchao Shentu, Xiangjun Chen
Summary: This study investigated the molecular mechanism of the R48C mutation of gamma A-crystallin in a Mexican-Mestizo descent family causing congenital cataracts. The R48C mutation did not affect the secondary and tertiary structure of the protein, but it did disrupt its oxidative stability, leading to increased aggregation and precipitation under oxidative conditions, potentially contributing to the pathogenesis of congenital cataracts related to this mutation.
INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES
(2022)
Article
Ophthalmology
Wei Wu, Jingjie Xu, Houfa Yin, Chenxi Fu, Ke Yao, Xiangjun Chen
Summary: Heterozygous variants of the PRSS56 gene were identified in two patients with nanophthalmos. These variants may lead to destructive protein structures, impaired subcellular localization, reduced serine-type endopeptidase activity, and impaired cellular migratory ability.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Wanyue Xu, Jingjie Xu, Caiping Shi, Jing Wu, Huaxia Wang, Wei Wu, Xiangjun Chen, Lidan Hu
Summary: This study identified a novel mutation (Ile82Met) in gamma A-crystallin and investigated its potential molecular mechanism in cataract. The mutation was found to decrease protein stability and increase aggregatory potency under stressful conditions. Furthermore, chemical denaturation affected the unfolding process of gamma A-crystallin.
INTERNATIONAL JOURNAL OF BIOLOGICAL MACROMOLECULES
(2022)
Article
Biochemistry & Molecular Biology
Ling Ren, Lidan Hu, Ying Zhang, Jian Liu, Wanyue Xu, Wei Wu, Jingjie Xu, Xiangjun Chen, Ke Yao, Yibo Yu
Summary: The beta B1-S93R mutation leads to decreased solubility, increased aggregation propensity, and heightened sensitivity to environmental stress, potentially contributing to cataract development.
FRONTIERS IN MOLECULAR BIOSCIENCES
(2022)
Review
Biotechnology & Applied Microbiology
Chenqi Luo, Hanle Wang, Xinyi Chen, Jingjie Xu, Houfa Yin, Ke Yao
Summary: Advancements in cataract surgery have increased the demand for intraocular lens (IOL) materials. The research progress of IOL materials focuses on improving biocompatibility, visual quality, adjustable ability, and dealing with complications. Most of the studies are still in the laboratory stage and require further clinical trials before commercialization.
FRONTIERS IN BIOENGINEERING AND BIOTECHNOLOGY
(2022)
Article
Ophthalmology
Jingjie Xu, Ying Zhang, Jian Liu, Lidan Hu, Chenqi Luo, Ke Yao, Xiangjun Chen
Summary: This study reveals that the decreased thermal stability of beta B1-crystallin due to the L116P mutation contributes significantly to the formation of congenital cataracts. Additionally, the heteromer formation between beta B1 and beta A3 protects against the low thermal stability of beta B1-L116P.
BRITISH JOURNAL OF OPHTHALMOLOGY
(2022)
Article
Biochemistry & Molecular Biology
Ye Liu, Di Wu, Qiuli Fu, Shengjie Hao, Yuzhou Gu, Wei Zhao, Shuying Chen, Feiyin Sheng, Yili Xu, Zhiqing Chen, Ke Yao
Summary: Age-related macular degeneration (AMD) is the leading cause of irreversible visual loss in the elderly population. The underlying molecular mechanisms of how retinal pigment epithelial (RPE) cells respond and progress under oxidative damage are still largely unknown. This study reveals the significance of Glutathione specific gamma-glutamylcyclotransferase 1 (Chac1) as a novel contributor of oxidative-stress-induced ferroptosis in RPE, suggesting its potential role in AMD.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Kai Wang, Fangkun Yang, Xin Liu, Xueqi Lin, Houfa Yin, Qiaomei Tang, Li Jiang, Ke Yao
Summary: Metabolic traits are associated with the risk of developing glaucoma, with type 2 diabetes, systolic blood pressure, fasting glucose, and HbA1c being causally linked to glaucoma risk. However, body mass index and blood lipids do not have a causal effect on glaucoma risk.