Review
Medicine, General & Internal
Lu Yang, Yuehua Liu, Tao Wang
Summary: This study identified a missense mutation in the KIT gene associated with generalized hyperpigmentation and lentigines in a Chinese pedigree. The rarity of this germline mutation and its potential implications for genetic counseling and future therapy were highlighted.
FRONTIERS IN MEDICINE
(2022)
Article
Hematology
Roeland Huijgen, Dirk J. Blom, Merel L. Hartgers, Kevin Chemello, Asier Benito-Vicente, Kepa B. Uribe, Zorena Behardien, Dee M. Blackhurst, Brigitte C. Brice, Joep C. Defesche, Annemiek G. de Jong, Rosemary J. Jooste, Bharati D. Ratanjee, Gabriele A. E. Solomon, Karen H. Wolmarans, G. Kees Hovingh, Cesar Martin, Gilles Lambert, A. David Marais
Summary: Familial hypercholesterolemia (FH) is characterized by elevated low-density lipoprotein-cholesterol and increased cardiovascular risk. In this study, we evaluated the impact of novel PCSK9 variants in FH patients through genetic cascade screening and functionality assays. Approximately 1.14% of FH cases were clearly attributed to pathogenic variants in PCSK9, with the G516V variant's pathogenicity firmly established.
ARTERIOSCLEROSIS THROMBOSIS AND VASCULAR BIOLOGY
(2021)
Article
Pharmacology & Pharmacy
Laura B. Jones, Colin H. Peters, Richard E. Rosch, Maxine Owers, Elaine Hughes, Deb K. Pal, Peter C. Ruben
Summary: Variants of the SCN1A gene are responsible for over 85% of Dravet syndrome cases, but are now being observed in a range of other epilepsy phenotypes with increased availability of genetic testing. While most epilepsy-associated variants in SCN1A cause loss of channel function, there is a subset of missense mutations that result in increased excitability, complicating precision pharmacotherapy for patients with SCN1A variants and epilepsy. The L1624Q variant described in this study is a rare case of a familial SCN1A variant causing an autosomal dominant frontal lobe epilepsy, and its biophysical analysis shows a mix of gain and loss-of-function properties in SCN1A-related epilepsy.
FRONTIERS IN PHARMACOLOGY
(2021)
Review
Biochemistry & Molecular Biology
Amin Mahmood Thawabteh, Alaa Jibreen, Donia Karaman, Ala Thawabteh, Rafik Karaman
Summary: Human skin pigmentation and melanin synthesis are highly variable and influenced by genetics, UV exposure, and certain drugs. Skin conditions that cause pigmentary abnormalities can impact patients' physical appearance, psychological health, and social functioning. Hyperpigmentation and hypopigmentation are the major classifications of skin pigmentation. The most common clinical skin pigmentation disorders include albinism, melasma, vitiligo, Addison's disease, and post-inflammatory hyperpigmentation. Treatment options for pigmentation problems include anti-inflammatory medications, antioxidants, and tyrosinase inhibitors. This review article discusses the different types of pigmentation problems, their causes, and treatments, as well as the clinically tested plants, marine species, and medications available for treating skin diseases.
Article
Genetics & Heredity
Mario Gorenjak, Nino Fijacko, Pij Bogomir Marko, Milanka Zivanovic, Uros Potocnik
Summary: This study identified a novel pathogenic hotspot mutation in the 3rd alpha helix of the KITLG gene, which may increase the risk of malignancies and provides the strongest evidence of association with both Familial Progressive Hyper- and Hypopigmentation and malignancy.
MOLECULAR GENETICS & GENOMIC MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Evelyn Tsantikos, Timothy A. Gottschalk, Elan L'Estrange-Stranieri, Caitlin A. O'Brien, April L. Raftery, Lakshanie C. Wickramasinghe, Jonathan L. McQualter, Gary P. Anderson, Margaret L. Hibbs
Summary: The epidemiological patterns of COPD and lung adenocarcinoma are changing, with a growing number of cases occurring in non-smokers or individuals not exposed to traditional risk factors. The exact causative mechanisms are still unclear, but overactivity of SFKs and inflammatory lung damage are potential candidates. A preclinical model involving Lyn mutation has shown that it causes spontaneous inflammation, emphysema, and lung adenocarcinoma, providing new insights into the pathogenesis of these diseases.
AMERICAN JOURNAL OF RESPIRATORY CELL AND MOLECULAR BIOLOGY
(2023)
Article
Medicine, General & Internal
Wei Yuan, Wen Huang, Lei Ren, Chen Xu, Li-Juan Luan, Jie Huang, An-Wei Xue, Yong Fang, Xiao-Dong Gao, Kun-Tang Shen, Jing-Huan Lv, Ying-Yong Hou
Summary: In this study, two patients (father and daughter) in a Chinese family with germline KIT mutation were reported for the first time. Their pathology, genetics and clinical manifestations were described. The patients showed multiple tumors in the small intestine and pigmented spots on the skin. Imatinib therapy showed long-lasting disease stability and hypopigmentation of the skin could also be observed. However, the daughter of the female patient did not have the germline KIT mutation.
WORLD JOURNAL OF CLINICAL CASES
(2022)
Article
Medicine, Research & Experimental
Qiong Pan, Gang Luo, Jiaquan Qu, Sheng Chen, Xiaoxun Zhang, Nan Zhao, Jingjing Ding, Hong Yang, Mingqiao Li, Ling Li, Ying Cheng, Xuan Li, Qiaoling Xie, Qiao Li, Xueqian Zhou, Huiling Zou, Shijun Fan, Lingyun Zou, Wei Liu, Guohong Deng, Shi-Ying Cai, James L. Boyer, Jin Chai
Summary: The homozygous mutation of SEMA7A(R145W) leads to intrahepatic cholestasis in both mice and children, with further studies showing that this mutation affects the expression of hepatic bile acid transporters and export pumps.
EMBO MOLECULAR MEDICINE
(2021)
Article
Biochemistry & Molecular Biology
Sarka Jelinkova, Yvonne Sleiman, Petr Fojtik, Franck Aimond, Amanda Finan, Gerald Hugon, Valerie Scheuermann, Deborah Beckerova, Olivier Cazorla, Marie Vincenti, Pascal Amedro, Sylvain Richard, Josef Jaros, Petr Dvorak, Alain Lacampagne, Gilles Carnac, Vladimir Rotrekl, Albano C. Meli
Summary: Duchenne muscular dystrophy (DMD) leads to dilated cardiomyopathy (DCM) with unclear pathological progression, as the number of cardiovascular progenitor cells (CVPCs) in the heart may decrease with age and disease state in DMD, contributing to the acceleration of DCM development.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2021)
Article
Immunology
Yifan Xie, Fenli Shao, Juan Lei, Na Huang, Zhidan Fan, Haiguo Yu
Summary: Inherited autosomal dominant gain-of-function mutations of STAT1 can cause various symptoms, such as chronic mucocutaneous candidiasis, infections, and autoimmune disorders. This study presents a rare case of STAT1 mutation with recurrent chronic mucocutaneous candidiasis, lung infections, and anemia. Treatment with ruxolitinib may be a viable option for disease management.
FRONTIERS IN IMMUNOLOGY
(2022)
Article
Genetics & Heredity
Xihan Guo, Minyan Jiang, Xueqin Dai, Jie Shen, Xu Wang
Summary: Mutations in Presenilin-1 (PS1) are responsible for the majority of familial Alzheimer's disease (AD) cases. This study demonstrates that knocking down PS1 or inhibiting its gamma-secretase activity induces genome instability, which may contribute to the development of AD. The findings suggest a potential link between PS1 loss-of-function or gain-of-function mutations and familial AD through the impairment of genome stability.
Article
Biochemistry & Molecular Biology
Dorothy Das, Venkata Satish Kumar Mattaparthi
Summary: A novel heterozygous A30G mutation of the SNCA gene associated with familial PD has been reported, but little research has been done on how the A30G mutation affects the structure of a-Syn. Using atomistic molecular dynamics simulation, this study demonstrates the key structural characteristics of A30G a-Syn in both free monomer form and membrane associated state. The A30G mutation alters the protein's α-helical structure and slightly affects the membrane binding.
JOURNAL OF BIOMOLECULAR STRUCTURE & DYNAMICS
(2023)
Review
Oncology
Miao Yan, Jianghua Lin, Man Shu, Yanji Luo, Kaiyu Sun, Shaohua Yang, Xinhua Zhang
Summary: This review summarizes the clinical features, treatment, and prognosis of familial gastrointestinal tumors (GIST), aiming to assist clinicians in better diagnosing and treating the disease. Familial GISTs are rare, with most cases being sporadic and only a few having germline mutations.
Article
Cell Biology
Bo Sun, Mingke Ni, Shanshan Tian, Wenting Guo, Shitian Cai, Mads T. Sondergaard, Yongxiang Chen, Yongxin Mu, John P. Estillore, Ruiwu Wang, Ju Chen, Michael T. Overgaard, Michael Fill, Josefina Ramos-Franco, Mette Nyegaard, Sui Rong Wayne Chen
Summary: ITPR1 is a critical intracellular calcium release channel that is involved in numerous cellular processes. While mutations in ITPR1 have been primarily associated with movement disorders, our study reveals the pathological consequences of ITPR1 gain of function (GOF) mutations, which enhance ITPR1 activity and increase the risk of testicular dysfunction.
JOURNAL OF CELLULAR PHYSIOLOGY
(2022)
Article
Immunology
Ekaterina Minskaia, Jesmeen Maimaris, Persephone Jenkins, Adriana Albuquerque, Ying Hong, Despina Eleftheriou, Kimberly Gilmour, Richard C. Grace, Fernando O. Moreira, Bodo Grimbacher, Emma C. Morris, Siobhan O. Burns
Summary: The transcription factor STAT6 plays a crucial role in allergic inflammation. A new study identified a mutation in the STAT6 gene that leads to overactivity of the IL-4 signalling pathway and is associated with early-onset atopic dermatitis, food allergy, asthma, anaphylaxis, and lymphoma. The mutation results in higher levels of STAT6 and phosphorylated STAT6, suggesting an increased risk of lymphomagenesis in patients with this mutation.
JOURNAL OF CLINICAL IMMUNOLOGY
(2023)
Article
Cell Biology
Bao Sun, Jiecan Zhou, Yongchao Gao, Fazhong He, Heng Xu, Xiaoping Chen, Wei Zhang, Ling Chen
Summary: The study reveals that overexpression of FAF1 exacerbates insulin resistance, while downregulation of FAF1 has the opposite effect. FAF1 directly interacts with JNK and activates its phosphorylation, leading to the blockade of downstream insulin signaling pathway, thus causing insulin resistance.
OXIDATIVE MEDICINE AND CELLULAR LONGEVITY
(2021)
Article
Cell Biology
Zhen Guo, You-Hong Wang, Heng Xu, Chun-Su Yuan, Hong-Hao Zhou, Wei-Hua Huang, Hui Wang, Wei Zhang
Summary: Our study found that linc00312 is significantly down-regulated in NPC tissues and higher expression of linc00312 is associated with longer overall survival and better short-term radiotherapy efficacy. Overexpression of linc00312 increases NPC cells' sensitivity to ionizing radiation by hindering the DNA repair and cell cycle control mechanisms. DNA-PKcs was identified as the binding protein of linc00312, revealing a novel mechanism in the DNA damage response.
CELL DEATH & DISEASE
(2021)
Article
Pharmacology & Pharmacy
Shouyue Zhang, Jin Zhang, Yang An, Xiaoxi Zeng, Ziyi Qin, Yuqian Zhao, Heng Xu, Bo Liu
Summary: Multi-omics approaches were used to identify potential autophagic regulators in BRCA, revealing SF3B3 as a negative regulator and SIRT3 as a positive regulator. These findings highlight SF3B3 and SIRT3 as new druggable targets in bridging the gap between autophagy and cancer drug development.
ACTA PHARMACEUTICA SINICA B
(2021)
Article
Gastroenterology & Hepatology
Hai-Ning Chen, Yang Shu, Fei Liao, Xue Liao, Hongying Zhang, Yun Qin, Zhu Wang, Maochao Luo, Qiuluo Liu, Zhinan Xue, Minyuan Cao, Shouyue Zhang, Wei-Han Zhang, Qianqian Hou, Xuyang Xia, Han Luo, Yan Zhang, Lie Yang, Jian-Kun Hu, Xianghui Fu, Bo Liu, Hongbo Hu, Canhua Huang, Yong Peng, Wei Cheng, Lunzhi Dai, Li Yang, Wei Zhang, Biao Dong, Yuan Li, Yuquan Wei, Heng Xu, Zong-Guang Zhou
Summary: The study provides insights into the genomic evolution and metastatic patterns of colorectal cancer, suggesting that biopsy/sequencing of metastases should be considered for patients with multiorgan or late postoperative metastasis.
Article
Oncology
Xin Liao, Xuyang Xia, Wei Su, Huayun Yan, Yingfang Ma, Lian Xu, Han Luo, Wanting Liu, Dandan Yin, Wei-Han Zhang, Hai-Ning Chen, Yiqi Deng, Zhixiang Ren, Zehui Yu, Fei Liao, Keling Chen, Minyuan Cao, Yiguan Zhang, Wei Zhang, Wei Wang, Jun-Ning Zhao, Heng Xu, Yang Shu
Summary: The study investigated the genomic alterations and prognostic value of gastric-type cervical adenocarcinoma (GCA) in Chinese patients. Mutations were commonly observed in GCA-related driver genes, and the alteration of APOBEC3B was found to be associated with favorable prognosis.
GYNECOLOGIC ONCOLOGY
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Cong Li, Yun Qin, Wei-Han Zhang, Hanyu Jiang, Bin Song, Mustafa R. Bashir, Heng Xu, Ting Duan, Mengjie Fang, Lianzhen Zhong, Lingwei Meng, Di Dong, Zhenhua Hu, Jie Tian, Jian-Kun Hu
Summary: The study developed a noninvasive AI model based on preoperative CT scans to diagnose and predict prognoses of SRCC in gastric cancer patients. The AI model showed good performance in diagnosing SRCC, stratifying patient prognosis, and predicting chemotherapy responses. Patients identified as high-risk by the AI model may benefit significantly from adjuvant chemotherapy.
Article
Pharmacology & Pharmacy
Chenxue Mao, Juan Chen, Ting Zou, Yuankang Zhou, Junyan Liu, Xi Li, Xiangping Li, Min Li, Pinhua Pan, Wei Zhuo, Yang Gao, Shuo Hu, Desheng Xiao, Lin Wu, Zhan Wang, Heng Xu, Wen Yang, Yingjie Xu, Haihua Xiao, Kazuhiko Hanada, Wei Zhang, Honghao Zhou, Jiye Yin, Zhaoqian Liu
Summary: This study investigated the pharmacogenomic markers associated with platinum-based chemotherapy response in NSCLC patients through genome-wide association studies and validated the findings in independent cohorts. The results identified two genetic variations (rs2280496 and rs189178649) in the ADCY1 gene that were associated with the sensitivity of platinum-based chemotherapy in NSCLC patients.
ACTA PHARMACEUTICA SINICA B
(2022)
Article
Gastroenterology & Hepatology
Maochao Luo, Zhao Huang, Xingyue Yang, Yan Chen, Jingwen Jiang, Lu Zhang, Li Zhou, Siyuan Qin, Ping Jin, Shuyue Fu, Liyuan Peng, Bowen Li, Yongting Fang, Wenchen Pu, Yanqiu Gong, Yu Liu, Zhixiang Ren, Qiu-Luo Liu, Cun Wang, Fangqiong Xiao, Du He, Hongying Zhang, Changlong Li, Heng Xu, Lunzhi Dai, Yong Peng, Zong-Gung Zhou, Canhua Huang, Hai-Ning Chen
Summary: This study identifies PHLDB2 as a key player in latent liver metastasis of colorectal cancer (CRC). Chemotherapeutic-induced oxidative stress promotes N6-methyladenosine modification of PHLDB2 messenger RNA, leading to increased protein expression of PHLDB2. Upregulated PHLDB2 stabilizes EGFR and promotes its nuclear translocation, resulting in activation of EGFR signaling and resistance to cetuximab. The study proposes PHLDB2 as a potential target for CRC treatment.
CELLULAR AND MOLECULAR GASTROENTEROLOGY AND HEPATOLOGY
(2022)
Article
Genetics & Heredity
Feier Zeng, Huan Liu, Xuyang Xia, Yang Shu, Wei Cheng, Heng Xu, Geng Yin, Qibing Xie
Summary: This study identified novel variants in IHH for inherited BDA1 and found a potential causal germline variant in Cry1 for a molecular biomarker of RA.
FRONTIERS IN GENETICS
(2022)
Article
Biotechnology & Applied Microbiology
Qinghong Dai, Xuyang Xia, Chenjia He, Yupeng Huang, Yidan Chen, Yang Wu, Yuehong Chen, Qianqian Hou, Yang Shu, Wei Zhang, Heng Xu, Geng Yin, Qibing Xie
Summary: The study found that gut microbiota dysbiosis in ankylosing spondylitis patients can be restored after anti-TNF-alpha treatment. SCFA-producing bacteria play a crucial role in the onset and severity of ankylosing spondylitis. Bacilli and Haemophilus may be associated with the onset and severity of ankylosing spondylitis.
PHARMACOGENETICS AND GENOMICS
(2022)
Article
Genetics & Heredity
Peiqi Wang, Xinghan Sun, Qiang Miao, Hao Mi, Minyuan Cao, Shan Zhao, Yiyi Wang, Yang Shu, Wei Li, Heng Xu, Ding Bai, Yan Zhang
Summary: This study investigated the genetic predispositions of aesthetic facial traits in the Chinese population. Several novel genetic associations were identified, and functional annotation and polygenic scores were used to understand the genetic basis of these traits.
FRONTIERS IN GENETICS
(2022)
Article
Multidisciplinary Sciences
Han Luo, Xuyang Xia, Li-Bin Huang, Hyunsu An, Minyuan Cao, Gyeong Dae Kim, Hai-Ning Chen, Wei-Han Zhang, Yang Shu, Xiangyu Kong, Zhixiang Ren, Pei-Heng Li, Yang Liu, Huairong Tang, Ronghao Sun, Chao Li, Bing Bai, Weiguo Jia, Yi Liu, Wei Zhang, Li Yang, Yong Peng, Lunzhi Dai, Hongbo Hu, Yong Jiang, Yiguo Hu, Jingqiang Zhu, Hong Jiang, Zhihui Li, Carlos Caulin, Jihwan Park, Heng Xu
Summary: This study conducts pan-cancer analysis on 226 samples across 10 solid cancer types, illustrating the commonalities and plasticity of heterogeneous CAFs. It reveals that the activation trajectory of major CAF types is divided into three states, showing distinct interactions with other cell components and correlation with immunotherapy prognosis. Additionally, minor CAF components may originate from other TME components such as endothelial cells and macrophages.
NATURE COMMUNICATIONS
(2022)
Review
Medicine, General & Internal
Pei-Heng Li, Xiang-Yu Kong, Ya-Zhou He, Yi Liu, Xi Peng, Zhi-Hui Li, Heng Xu, Han Luo, Jihwan Park
Summary: This review explores the application of scRNA-seq in investigating the tumour immune microenvironment (TIME), including method comparison, deciphering TIME components, and identifying potential targets. The authors emphasize the importance and future prospects of scRNA-seq technology in cancer therapy, as well as propose some future research directions.
MILITARY MEDICAL RESEARCH
(2022)
Article
Virology
Zhaobin Deng, Xuyang Xia, Yiqi Deng, Mingde Zhao, Congwei Gu, Yi Geng, Jun Wang, Qian Yang, Manli He, Qihai Xiao, Wudian Xiao, Lvqin He, Sicheng Liang, Heng Xu, Muhan Lu, Zehui Yu
Summary: ANI analysis is a feasible method for classifying poxviruses and identifies new species, as well as poxviruses not listed in existing species lists.
Article
Biochemistry & Molecular Biology
Qing-zhang Tuo, Yu Liu, Zheng Xiang, Hong-Fa Yan, Ting Zou, Yang Shu, Xu-long Ding, Jin-jun Zou, Shuo Xu, Fei Tang, Yan-qiu Gong, Xiao-lan Li, Yu-jie Guo, Zhao-yue Zheng, Ai-ping Deng, Zhang-zhong Yang, Wen-jing Li, Shu-ting Zhang, Scott Ayton, Ashley I. Bush, Heng Xu, Lunzhi Dai, Biao Dong, Peng Lei
Summary: Ischemic stroke poses a significant threat to human health, especially among the elderly. This study suggests that thrombin, a serine protease, can initiate ferroptotic signaling in ischemic stroke. Inhibiting the thrombin-ACSL4 axis could be a potential therapeutic target for reducing neuronal injury in ischemic stroke.
SIGNAL TRANSDUCTION AND TARGETED THERAPY
(2022)