Article
Genetics & Heredity
Ethiraj Ravindran, Cynthia Gutierrez de Velazco, Ali Ghazanfar, Nadine Kraemer, Sami Zaqout, Abdul Waheed, Mohsan Hanif, Sadia Mughal, Alessandro Prigione, Na Li, Xiang Fang, Hao Hu, Angela M. Kaindl
Summary: Mutations in MCM7 are identified as a novel cause of autosomal recessive primary microcephaly (MCPH) and intellectual disability, highlighting its crucial role in nervous system development. The expression pattern of MCM7 is consistent in mouse and human cells, affecting cell viability and proliferation.
JOURNAL OF MEDICAL GENETICS
(2022)
Letter
Clinical Neurology
Li-Xi Li, Li-Ting Jiang, Ying Liu, Xiao-Long Zhang, You-Gui Pan, Li-Zhen Pan, Zhi-Yu Nie, Xin-Hua Wan, Ling-Jing Jin
Summary: Mutations in VPS16 have been linked to generalized dystonia, with a novel frameshift mutation identified in a patient with early-onset multifocal dystonia. This expands the understanding of VPS16-related dystonia and highlights the importance of considering VPS16 mutations in patients with progressive early-onset dystonia.
PARKINSONISM & RELATED DISORDERS
(2021)
Article
Clinical Neurology
Natasa Dragasevic-Miskovic, Iva Stankovic, Andona Milovanovic, Vladimir S. Kostic
Summary: Autosomal recessive ataxias (ARCA) encompass a wide range of diseases, from primary ataxias to complex metabolic disorders where ataxia is just one aspect. Proper differential diagnosis is crucial for adult-onset ARCA, as they may be treatable and have prognostic implications.
JOURNAL OF NEUROLOGY
(2022)
Article
Genetics & Heredity
Zhengxia Zhong, Xiaoyong Yan, Zhengying Fang, Yijun Dong, Jiaxing Tan, Jingyuan Xie, Linhong Hu, Shibin Zhang, Wei Qin
Summary: This study describes a rare case of adolescent-onset NPHP caused by a novel homozygous INVS mutation. The patient progressed to ESRD at the age of 15 years.
FRONTIERS IN GENETICS
(2022)
Article
Immunology
Shirley Pollack, Israel Eisenstein, Adi Mory, Tamar Paperna, Ayala Ofir, Hagit Baris-Feldman, Karin Weiss, Nora Veszeli, Dorottya Csuka, Revital Shemer, Fabian Glaser, Zoltan Prohaszka, Daniella Magen
Summary: The study identified a rare novel homozygous activating deletion in the C3 gene associated with atypical hemolytic uremic syndrome (aHUS), highlighting the critical role of the disrupted C3-TED domain in the disease mechanism.
FRONTIERS IN IMMUNOLOGY
(2021)
Article
Medical Laboratory Technology
Rui Zhang, Yajing Hao, Ying Xu, Jiale Qin, Yanfang Wang, Subrata Kumar Dey, Chen Li, Huilin Wang, Santasree Banerjee
Summary: This study identified a novel mutation in the SUOX gene associated with isolated sulfite oxidase deficiency and highlighted the significance of whole exome sequencing in identifying candidate genes and novel disease-causing variants.
CLINICA CHIMICA ACTA
(2022)
Review
Cell Biology
Sami Zaqout, Angela M. Kaindl
Summary: This review article provides an in-depth look into the microcephalic MCPH brain. The article discusses the cytoarchitecture of the cerebral cortex and various processes occurring at the level of neural progenitors, early generated and mature neurons, and glial cells. The aim is to give an overview of current knowledge in MCPH phenotype and normal brain growth.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2022)
Review
Biochemistry & Molecular Biology
Fansi Zeng, Wenzhen Qin, Feifei Huang, Pingan Chang
Summary: The stratum corneum of the epidermis acts as a crucial permeability barrier, and unique ceramides, particularly omega-O-acylceramides, play a key role in its formation. The function of PNPLA1, an enzyme involved in acylceramide synthesis, was a mystery until it was found to be associated with autosomal-recessive congenital ichthyosis (ARCI). PNPLA1 mutations lead to decreased acylceramide levels and impaired skin barrier function.
Article
Biochemistry & Molecular Biology
Mahta Mazaheri, Hamid Reza Jahantigh, Mahdie Yavari, Seyed Reza Mirjalili, Hassan Vahidnezhad
Summary: This article reports a novel variant of ARCL1 in an Iranian male infant with uncommon clinical features, such as atrial septal defect and pyloric stenosis. The patient passed away at the age of seven months and seven days due to multiple cardiac problems.
MOLECULAR BIOLOGY REPORTS
(2022)
Article
Dermatology
Shengru Zhou, Xingyuan Jiang, Yuhao Zhu, Jianqiu Yang, Chunyu Yuan, Min Chen, Qianqian Zhou, Zhimiao Lin, Min Li
Summary: This study investigates the contribution of LSS mutations to mutilating palmoplantar keratoderma (PPK) in a Chinese patient. Biallelic variants were identified in the LSS gene, and experiments showed a correlation between these mutations and the disease.
EXPERIMENTAL DERMATOLOGY
(2023)
Article
Genetics & Heredity
Franziska Schnabel, Elisabeth Schuler, Almundher Al-Maawali, Ankur Chaurasia, Steffen Syrbe, Adila Al-Kindi, Gandham SriLakshmi Bhavani, Anju Shukla, Janine Altmueller, Peter Nuernberg, Siddharth Banka, Katta M. Girisha, Yun Li, Bernd Wollnik, Goekhan Yigit
Summary: This study reports five patients from three families with a disorder characterized by congenital joint contractures affecting multiple body parts, including shoulder, elbow, hand, hip, knee, and foot, as well as scoliosis, reduced palmar and plantar skin folds, microcephaly, and facial dysmorphism. Exome sequencing identified homozygous truncating variants in the FILIP1 gene in all patients. FILIP1 is involved in the regulation of filamin homeostasis and is essential for cortical cell migration and muscle cell differentiation.
Article
Genetics & Heredity
Olga Levchenko, Alexandra Filatova, Irina Mishina, Aleksey Antonenko, Mikhail Skoblov
Summary: Autosomal recessive spinocerebellar ataxia type 20 (SCAR20) is a rare syndrome characterized by progressive ataxia, intellectual developmental disorder, autism, and dysmorphic features. The disease is caused by biallelic variants in the SNX14 gene, leading to loss of protein function. A deep intronic variant c.462-589A>G in SNX14 was identified in two sisters with SCAR20 from a consanguineous family, resulting in the inclusion of a pseudo-exon and a premature stop codon. This case expands the spectrum of genetic variants associated with SCAR20.
FRONTIERS IN GENETICS
(2023)
Article
Genetics & Heredity
Aboulfazl Rad, Maryam Najafi, Fatemeh Suri, Soheila Abedini, Stephen Loum, Ehsan Ghayoor Karimiani, Narsis Daftarian, David Murphy, Mohammad Doosti, Afrooz Moghaddasi, Hamid Ahmadieh, Hamideh Sabbaghi, Mohsen Rajati, Narges Hashemi, Barbara Vona, Miriam Schmidts
Summary: This study reports three unrelated families clinically diagnosed with STL, carrying different novel biallelic loss of function variants in COL9A3. The report expands the molecular genetics and clinical basis of autosomal recessive STL and provides an overview of allelic COL9A3 disorders.
ORPHANET JOURNAL OF RARE DISEASES
(2022)
Review
Biochemistry & Molecular Biology
Jaya Bagaria, Eva Bagyinszky, Seong Soo A. An
Summary: Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodegenerative disease that was originally discovered in Quebec. It is characterized by spasticity and ataxia, with retinal optic nerve hypermyelination being a common feature. Over 200 mutations in the SACS gene have been identified worldwide.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Dermatology
Lauren Banner, Alexa Cohen, Lauren McGrath, Neda Nikbakht, Andrew P. South
Summary: We report a novel homozygous KRT14 mutation in a patient with a mild form of epidermolysis bullosa simplex (EBS). The patient has loss of function in both alleles of the KRT14 gene. This is the 16th reported mutation of recessive EBS in KRT14.
CLINICAL AND EXPERIMENTAL DERMATOLOGY
(2023)
Article
Biochemistry & Molecular Biology
Song Wu, Yue Huang, Mochen Zhang, Zheng Gong, Guoliang Wang, Xinchang Zheng, Wenting Zong, Wei Zhao, Peiqi Xing, Rujiao Li, Zhaoqi Liu, Yiming Bao
Summary: ASCancer Atlas is a comprehensive knowledgebase of aberrant splicing in human cancers, providing a high-confidence collection of cancer-associated splicing events, a systematic splicing regulatory network, computationally putative splicing events, and online analysis tools.
NUCLEIC ACIDS RESEARCH
(2023)
Article
Biochemistry & Molecular Biology
Mochen Zhang, Wenting Zong, Dong Zou, Guoliang Wang, Wei Zhao, Fei Yang, Song Wu, Xinran Zhang, Xutong Guo, Yingke Ma, Zhuang Xiong, Zhang Zhang, Yiming Bao, Rujiao Li
Summary: DNA methylation, an important epigenetic mark regulating gene expression, plays a crucial role in various biological processes. MethBank 4.0 serves as a fundamental resource for the global research community, providing a wide range of services for integrating, archiving, analyzing, and visualizing DNA methylation data.
NUCLEIC ACIDS RESEARCH
(2023)
Article
Endocrinology & Metabolism
Conghui Hu, Yinxia Su, Xiaoyuan Hu, Kun Luo, Alimire Abudireyimu, Yuanyuan Li, Hua Yao
Summary: This study aimed to explore the effect of the interaction between abnormal BMI and hypertension on the risk of type 2 diabetes mellitus (T2DM) in Uyghur residents. The results showed that abnormal BMI and hypertension had a synergistic effect on the risk of T2DM, but there was no multiplicative interaction between the two.
INTERNATIONAL JOURNAL OF ENDOCRINOLOGY
(2023)
Article
Immunology
James T. T. Gordy, Avinaash K. K. Sandhu, Kaitlyn Fessler, Kun Luo, Aakanksha R. R. Kapoor, Samuel K. K. Ayeh, Yinan Hui, Courtney Schill, Fengyixin Chen, Tianyin Wang, Styliani Karanika, Joel C. C. Sunshine, Petros C. C. Karakousis, Richard B. B. Markham
Summary: The fusion of chemokine MIP-3 alpha gene with melanoma-associated antigen genes in DNA vaccines has shown enhanced anti-tumor immunity. Combination therapy with DNA vaccine, type-I interferon, and 5Aza significantly upregulated intratumoral mRNA expression of immune infiltration chemokines and increased infiltration of CD8+ DCs, CCR7+ DCs, NK cells, and memory T-cells while reducing myeloid-derived suppressor cells. This approach holds promise for melanoma treatment and further studies are needed to understand its mechanisms.
FRONTIERS IN IMMUNOLOGY
(2023)
Article
Materials Science, Multidisciplinary
Li Wang, Qing Yang, Yong Yang, Kun Luo, Ruqing Bai
Summary: A series of polyurethane porous hydrogels (PUF-s) loaded with different sodium carboxymethyl cellulose (CMC) were successfully prepared by one-step foaming method. The adsorption of methylene blue (MB) dye in water by CMC-PUF-s was investigated, and CMC-PUF-10 showed excellent adsorption performance with a removal rate of 81.47% and a maximum adsorption capacity of 27.5 mg/g.
INTERNATIONAL JOURNAL OF SMART AND NANO MATERIALS
(2023)
Article
Materials Science, Multidisciplinary
Qiaoyi Han, Kun Luo, Qi Gao, Yingju Wu, Julong He
Summary: The study focuses on the effect of precursor structure on the formation of diamond polytypes. Using HAADF STEM, the structural fragments of diamond polytypes were found in synthesized diamond crystals. DFT calculations were used to study the phase transition of nine graphitic structures with different stacking sequences, revealing the reasons for the rarity of non-3C diamonds and providing insights into the high-pressure transformation of graphite systems with diverse structures.
DIAMOND AND RELATED MATERIALS
(2023)
Article
Environmental Sciences
Guolian Li, Xiao Li, Xiaoyan Jiang, Yu Zhang, Haibin Li, Jiamei Zhang, Gege Cai, Kun Luo, Fazhi Xie
Summary: Nanyi Lake, a tributary of the Yangtze River, has been significantly impacted by human activities due to rapid economic development in the surrounding areas. This study analyzed heavy metal concentrations and dissolved organic matter (DOM) characteristics in the lake. The results revealed elevated concentrations of heavy metals, with carcinogenic risks associated with drinking water. The distribution of heavy metals was influenced by industrial and agricultural inputs. The findings emphasize the need for effective environmental management to mitigate the risks posed by heavy metals in Nanyi Lake.
ENVIRONMENTAL MONITORING AND ASSESSMENT
(2023)
Article
Clinical Neurology
Meng-Pan Li, Wen-Cai Liu, Jia-Bao Wu, Kun Luo, Yu Liu, Yu Zhang, Shi-Ning Xiao, Zhi-Li Liu, Shan-Hu Huang, Jia-Ming Liu
Summary: The purpose of this study was to establish the best prediction model for postoperative nosocomial pulmonary infection using machine learning. A total of 870 patients with spinal cord injury were included, and six different machine learning models were constructed. Age, ASIA scale, and tracheotomy were identified as independent risk factors for postoperative nosocomial pulmonary infection in SCI patients. The prediction model based on RF algorithm showed the best performance.
EUROPEAN SPINE JOURNAL
(2023)
Article
Green & Sustainable Science & Technology
Qiang Wang, Kun Luo, Chunlei Wu, Junyao Tan, Rongyu He, Shitong Ye, Jianren Fan
Summary: This study examines the inter-farm cluster interaction of offshore wind power bases in Jiangsu Province, China, under different scenarios. The results show that in the planned 2025 levels, there is a larger wind deficit and the wake meandering is significantly enlarged. Additionally, the development mode of increasing turbine capacity and conservative farm capacity is recommended for achieving carbon neutrality and cleaner production in the offshore wind power industry.
JOURNAL OF CLEANER PRODUCTION
(2023)
Article
Chemistry, Physical
Kun Luo, Yidi Shen, Jun Li, Qi An
Summary: The stability mechanism of methane hydrate under pressure has been elucidated through molecular dynamics simulations using a quantum mechanics-derived machine-learning force field. It has been found that the decomposition behavior of methane hydrate is regulated by the stability of water cages, with the most stable methane hydrate occurring at 2 kbar. Deviation from the optimal water molecule distance due to too low or too high pressure leads to rapid deconstruction of water cages and promotes the decomposition of methane hydrates. These findings provide molecular insights into pressure-dependent decomposition of methane hydrates and have implications for the stability of other gas hydrates.
JOURNAL OF PHYSICAL CHEMISTRY C
(2023)
Article
Materials Science, Multidisciplinary
Kun Luo, Pengfei Gao, Weihu Yang, Xiaoyu Lei, Tuck-Whye Wong, Ahmad Fauzi Ismail, Li Wang
Summary: In this study, a 3D porous scaffold was prepared by incorporating citrate functionalized amorphous calcium phosphate into a polytetrahydrofuran based polyurethane scaffold. The obtained scaffold exhibited high porosity, appropriate pore size, and sufficient mechanical strength for cell adhesion and structural support. The scaffold also showed excellent antibacterial properties and biocompatibility, making it a potential candidate for minimally invasive alveolar bone regeneration.
APPLIED MATERIALS TODAY
(2023)
Article
Fisheries
Xupeng Li, Kun Sun, Juan Sui, Sheng Luan, Baolong Chen, Jiawang Cao, Kun Luo, Jie Kong, Xianhong Meng
Summary: The study investigated the effect of inbreeding on the resistance of Fenneropenaeus chinensis to white spot syndrome virus (WSSV) infection. The results showed that inbred groups had lower survival time and rate compared to the control group, and exhibited higher variation. As the inbreeding coefficient increased, the WSSV infection survival time decreased significantly. The findings suggest that inbreeding enhances the susceptibility of F. chinensis to WSSV and reduces its resistance, leading to increased population dispersion and instability of resistant phenotypes.
AQUACULTURE REPORTS
(2023)
Article
Fisheries
Qiang Fu, Kun Sun, Juan Sui, Xupeng Li, Jiawang Cao, Jian Tan, Baolong Chen, Kun Luo, Sheng Luan, Jie Kong, Xianhong Meng
Summary: This study investigated the performance differences among offspring obtained by intra- and inter-strain crosses using two shrimp strains, A and B, with outstanding WSSV resistance and growth, respectively. The results showed that crossbreeding can complement the advantages of different strains, with the cross of strain BA performing the best in terms of WSSV resistance and growth. The heritability estimates of body length and weight were medium, and there were significant genetic and phenotypic correlations among growth-related traits. The study provides important reference data for breeding disease-resistant and fast-growing shrimp strains.
AQUACULTURE REPORTS
(2023)
Article
Agricultural Engineering
Tengyu Li, Kun Luo, Chenlei Wang, Yuefen Cao, Hua Zhang, Yongshan Zhang, Junkang Rong
Summary: Interspecific hybridization improves cotton fiber quality by addressing parental genetic diversity bottleneck problems. An integrated analysis of phenotypes, mRNAs, and miRNAs was conducted to elucidate the molecular mechanisms underlying fiber heterosis in interspecific hybrid cotton. The results showed that fiber heterosis was most obvious at 10 days post anthesis, with transgressive up-regulation observed at the mRNA level and transgressive down-regulation at the miRNA level. MiR160-ARF and miR319-TCP pairs played a crucial role in endogenous auxin content and secondary cell wall deposition, thereby contributing to interspecific fiber heterosis. This study provides insights into the regulation of fiber heterosis by miRNA-mRNA and has implications for the application of interspecific hybrid cotton.
INDUSTRIAL CROPS AND PRODUCTS
(2023)
Review
Immunology
Jianxiong Zheng, Lei Peng, Shaohua Zhang, Haiyang Liao, Jiayao Hao, Song Wu, Haili Shen
Summary: This meta-analysis indicates that the systemic immune-inflammation index (SII) can serve as a valuable prognostic tool in patients with urothelial carcinoma (UC).
FRONTIERS IN IMMUNOLOGY
(2023)