Article
Cardiac & Cardiovascular Systems
Laurens F. Reeskamp, Manon Balvers, Jorge Peter, Laura van de Kerkhof, Lisette N. Klaaijsen, Mahdi M. Motazacker, Aldo Grefhorst, Natal A. W. van Riel, G. Kees Hovingh, Joep C. Defesche, Linda Zuurbier
Summary: In this study, researchers investigated whether variants in intronic regions of LDLR contribute to familial hypercholesterolemia (FH) by affecting pre-mRNA splicing. They identified a deep intronic variant that was found to be causal for FH, indicating the importance of considering intronic regions in sequencing FH patients for accurate diagnosis and treatment.
Article
Biotechnology & Applied Microbiology
Nida Anwar, Faheem Ahmed Memon, Saba Shahid, Muhammad Shakeel, Muhammad Irfan, Aisha Arshad, Arshi Naz, Ikram Din Ujjan, Tahir Shamsi
Summary: Sequencing studies on MDS patients in Pakistan revealed various genetic mutations associated with myeloid malignancies, including mutations not previously observed in MDS or AML. These findings highlight the importance of molecular profiling in diagnosis and treatment of MDS patients in countries with limited resources like Pakistan. Further research with larger sample sizes is necessary to compare molecular characteristics between Asian and global populations.
Article
Oncology
Margherita Rimini, Eleonora Loi, Carles Fabregat-Franco, Valentina Burgio, Sara Lonardi, Monica Niger, Mario Scartozzi, Ilario G. Raposelli, Giuseppe Aprile, Francesca Ratti, Federica Pedica, Helena Verdaguer, Mario Rizzato, Federico Nichetti, Eleonora Lai, Alessandro Cappetta, Teresa Macarulla, Matteo Fassan, Filippo De Braud, Andrea Pretta, Francesca Simionato, Francesco De Cobelli, Luca Aldrighetti, Lorenzo Fornaro, Stefano Cascinu, Zavattari Patrizia, Andrea Casadei-Gardini
Summary: This study identified three mutation-based clusters in IDH1-mutated intrahepatic cholangiocarcinomas (IDH1m iCCAs) and demonstrated their prognostic significance.
EUROPEAN JOURNAL OF CANCER
(2022)
Article
Biotechnology & Applied Microbiology
Songbai Zheng, Xiaodan Wang, Ying Fu, Beibei Li, Jianhua Xu, Haifang Wang, Zhen Huang, Hui Xu, Yurong Qiu, Yaozhou Shi, Kui Li
Summary: This study investigated genetic variations in Chinese NSCLC patients using next-generation sequencing, identifying common mutated genes and genes with copy number variation. GO and KEGG analyses revealed that these genes were mainly involved in tumor-related signaling pathways such as PI3K-Akt, FoxO, and Ras.
Article
Oncology
Li-Cheng Tan, Wan-Lin Liu, Xiao-Li Zhu, Peng-Cheng Yu, Xiao Shi, Pei-Zhen Han, Ling Zhang, Liang-Yu Lin, Arseny Semenov, Yu Wang, Qing-Hai Ji, Dong-Mei Ji, Yu-Long Wang, Ning Qu
Summary: By combining cytology and genetic background, the accuracy of diagnosis in thyroid nodules can be enhanced. Next-generation sequencing technology can improve preoperative diagnosis sensitivity and guide medication direction in thyroid nodules. Clinicians can use cytology along with genetic alterations for a more precise diagnosis strategy.
FRONTIERS IN ONCOLOGY
(2021)
Article
Obstetrics & Gynecology
Serdar E. Bulun, Sule Yildiz, Mazhar Adli, Jian-Jun Wei
Summary: Adenomyosis is a challenging uterine disorder with unclear origins, involving contributions from abnormal endometrial tissue and smooth muscle cells. Recent studies suggest a link between adenomyosis and endometriosis in terms of cell origins, indicating both diseases arise from endometrial cell populations carrying specific driver mutations.
HUMAN REPRODUCTION UPDATE
(2021)
Article
Medicine, General & Internal
Huiyan Luan, Lei Zhang, Sijin Zhang, Meng Zhang
Summary: This case report presents a Chinese girl diagnosed with familial hemiplegic migraine type 1 through genetic and clinical assessment. Prophylactic therapy with flunarizine did not show improvement in the intensity of attacks in this patient.
Article
Oncology
Yueyun Ma, Wenjie Li, Shiyu Chen, Shuimiao Lin, Sijie Ding, Xiaomei Zhou, Tongxin Liu, Rong Wang, Wei Wang
Summary: In this study, a comprehensive analysis was performed on patients with advanced or metastatic esophageal cancer who underwent next-generation sequencing (NGS). Mutations in 227 genes were identified, with TP53, NQO1, DPYD, GSTM1, XRCC1 and ERCC1 being the most common. Patients who received NGS-guided therapy showed improved clinical outcomes. The study highlights the importance of NGS in precision therapy for esophageal cancer.
INTERNATIONAL JOURNAL OF CANCER
(2023)
Article
Infectious Diseases
Qun Li, Fengting Yu, Chuan Song, Hongxin Zhao, Qing Xiao, Xiaojie Lao, Siyuan Yang, Yunxia Tang, Fujie Zhang
Summary: In this study, the performance of next-generation sequencing (NGS) in detecting HIV drug-resistance mutations (DRMs) in patients with low-level viremia (LLV) was explored. The results showed the presence of drug-resistance mutations in LLV patients and suggested the need for genotyping resistance testing to guide antiretroviral therapy optimization.
INFECTION AND DRUG RESISTANCE
(2022)
Article
Pathology
Moonsik Kim, Jinhee Kim, An Na Seo, Ji Yun Jeong, Nora Jee-Young Park, Gun Oh Chong, Dae Gy Hong, Ji Young Park
Summary: This study provides a detailed analysis of the immunostaining pattern of oncogenic PTEN missense mutations and suggests that complementary testing using both immunostaining and next-generation sequencing is necessary to accurately evaluate the PTEN status in malignancy.
PATHOLOGY RESEARCH AND PRACTICE
(2023)
Article
Cardiac & Cardiovascular Systems
Laurens F. Reeskamp, Tycho R. Tromp, Joep C. Defesche, Aldo Grefhorst, Erik S. G. Stroes, G. Kees Hovingh, Linda Zuurbier
Summary: In the Netherlands, 14.9% of suspected familial hypercholesterolemia patients were found to have a pathogenic variant in LDLR, APOB or PCSK9, and this rate has decreased over the past two decades. The use of stringent clinical criteria algorithms is recommended to increase the yield of genetic testing. Variants in minor familial hypercholesterolemia genes may explain the phenotype in a small percentage of patients.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2021)
Article
Oncology
Xiaonan Wu, Jun Zhao, Ling Yang, Xin Nie, Zheng Wang, Ping Zhang, Chao Li, Xueqing Hu, Min Tang, Yuting Yi, Xinhua Du, Xuefeng Xia, Yanfang Guan, Zicheng Yu, Wenguang Gu, Xiangming Quan, Lin Li, Hong Shi
Summary: This study reveals the differences in somatic genetic mutations and tumor mutation burden between young and aged lung adenocarcinoma (LUAD) patients, which may provide directions for targeted therapy and advantages of immunotherapy for the elderly in the future.
Article
Virology
Calesta Hui Yi Teo, Nurul Hannah Binte Norhisham, Ogestelli Fabia Lee, Siyu Png, Chean Nee Chai, Gabriel Yan, Julian Wei-Tze Tang, Chun Kiat Lee
Summary: The HIV genotypic resistance test is crucial for managing HIV/AIDS patients, and high-throughput sequencing is a reliable and sensitive alternative method for detecting low-abundance covert mutations and drug resistance.
Article
Oncology
Huimin Hu, Weiling Zhang, Tian Zhi, Jing Li, Yuan Wen, Fan Li, Yanyan Mei, Dongsheng Huang
Summary: In this study, specific mutated genes associated with the pathogenesis of HB were identified, along with analyses of TMB and DNA mismatch repair status. Pediatric patients with gene abnormalities had a lower complete remission rate compared to those without gene abnormalities. The 2-year overall survival rate and disease-free survival rate for 19 pediatric patients with HB were 72.1% and 42.4%, respectively.
FRONTIERS IN ONCOLOGY
(2021)
Article
Reproductive Biology
Wei Luo, Hanni Ke, Shuyan Tang, Xue Jiao, Zhuqing Li, Shidou Zhao, Feng Zhang, Ting Guo, Yingying Qin
Summary: This study screened 500 Chinese Han patients with premature ovarian insufficiency using a next generation sequencing panel and identified 61 pathogenic or likely pathogenic variants. 58 of these variants were first identified in patients with POI. Further analysis revealed that specific variants in certain genes may result in isolated POI, while multiple gene defects could worsen the severity of POI.
JOURNAL OF OVARIAN RESEARCH
(2023)
Article
Dermatology
Woo-In Ryu, Hana Lee, Hyun Cheol Bae, Jiehyun Jeon, Hwa Jung Ryu, Jaehyung Kim, Ji Hyun Kim, Ji Won Son, JaeYoung Kim, Yasutomo Imai, Kiyofumi Yamanishi, Sang Hoon Jeong, Sang Wook Son
JOURNAL OF DERMATOLOGICAL SCIENCE
(2018)
Letter
Dermatology
Makoto Nagai, Yasutomo Imai, Kiyofumi Yamanishi
JOURNAL OF DERMATOLOGY
(2019)
Article
Rheumatology
Tetsuya Furukawa, Kiyoshi Matsui, Masayasu Kitano, Yuichi Yokoyama, Masahiro Sekiguchi, Naoto Azuma, Yasutomo Imai, Seiichi Hirota, Kiyofumi Yamanishi, Hajime Sano
MODERN RHEUMATOLOGY
(2019)
Letter
Dermatology
Yoshihiro Wada, Minori Kusakabe, Makoto Nagai, Yasutomo Imai, Kiyofumi Yamanishi
JOURNAL OF DERMATOLOGY
(2019)
Letter
Dermatology
Hideki Fujita, Tadashi Terui, Koremasa Hayama, Masashi Akiyama, Shigaku Ikeda, Tomotaka Mabuchi, Akira Ozawa, Takuro Kanekura, Michiko Kurosawa, Mayumi Komine, Kimiko Nakajima, Shigetoshi Sano, Osamu Nemoto, Masahiko Muto, Yasutomo Imai, Kiyofumi Yamanishi, Yumi Aoyama, Keiji Iwatsuki
JOURNAL OF DERMATOLOGY
(2018)
Article
Biotechnology & Applied Microbiology
Makoto Nagai, Yasutomo Imai, Yoshihiro Wada, Minori Kusakabe, Kiyofumi Yamanishi
Editorial Material
Dermatology
Yasutomo Imai, Kenichi Yamahara, Akiko Hamada, Yoshihiro Fujimori, Kiyofumi Yamanishi
JOURNAL OF DERMATOLOGY
(2019)
Letter
Dermatology
Makoto Kunisada, Kiyofumi Yamanishi, Chikako Nishigori
JOURNAL OF DERMATOLOGY
(2019)
Article
Dermatology
Yasutomo Imai, Koubun Yasuda, Makoto Nagai, Minori Kusakabe, Masato Kubo, Kenji Nakanishi, Kiyofumi Yamanishi
JOURNAL OF INVESTIGATIVE DERMATOLOGY
(2019)
Article
Allergy
Yuka Hosotani, Koubun Yasuda, Makoto Nagai, Kiyofumi Yamanishi, Nobuo Kanazawa, Fumi Gomi, Yasutomo Imai
Summary: ILC2 cells play a crucial role in IL-33-induced keratoconjunctivitis. Through single-cell RNA sequencing analysis, it was found that ILC2 cells infiltrated the conjunctival epithelium and subepithelial tissue. Moreover, the use of tacrolimus in treatment can inhibit cytokine production from ILC2 cells and alleviate IL-33-induced keratoconjunctivitis.
ALLERGOLOGY INTERNATIONAL
(2023)
Letter
Allergy
Kanako Kita, Yasutomo Imai, Makoto Nagai, Masaru Natsuaki, Nobuo Kanazawa
Summary: Dupilumab treatment reduces serum SCCA2 levels in patients with atopic dermatitis, even if the skin eruptions are not fully resolved.
JOURNAL OF CUTANEOUS IMMUNOLOGY AND ALLERGY
(2023)
Letter
Allergy
Mayu Fujimoto, Yasutomo Imai, Chiharu Tateishi, Daisuke Tsuruta, Kiyofumi Yamanishi
JOURNAL OF CUTANEOUS IMMUNOLOGY AND ALLERGY
(2019)
Letter
Allergy
Minori Kusakabe, Yasutomo Imai, Masaru Natsuaki, Kiyofumi Yamanishi
JOURNAL OF CUTANEOUS IMMUNOLOGY AND ALLERGY
(2018)