Article
Urology & Nephrology
Christoph Heinrich Lindemann, Andrea Wenzel, Florian Erger, Lea Middelmann, Julika Borde, Eric Hahnen, Denise Krauss, Simon Oehm, Sita Arjune, Polina Todorova, Kathrin Burgmaier, Max Christoph Liebau, Franziska Grundmann, Bodo B. Beck, Roman-Ulrich Mueller
Summary: This study established a multiplex PCR-based gene panel for rapid and cost-effective detection of disease-causing variants in patients with ADPKD. The results showed that combining clinical and genetic data had an impact on treatment decisions in 8.2% of patients with a molecular genetic diagnosis. This study is important for providing optimal patient counseling in ADPKD.
KIDNEY INTERNATIONAL REPORTS
(2023)
Article
Dentistry, Oral Surgery & Medicine
Yuhua Pan, Sheng Yi, Dong Chen, Xinya Du, Xinchen Yao, Fei He, Fu Xiong
Summary: This study identified a novel de novo missense mutation in the KDF1 gene in a Chinese patient with severe non-syndromic anodontia, providing the first report of KDF1 missense mutation causing this condition.
CLINICAL ORAL INVESTIGATIONS
(2022)
Article
Genetics & Heredity
Mengmeng Lu, Shuai Kong, Mingfei Xiang, Yu Wang, Jingjing Zhang, Zongliu Duan, Xiaomin Zha, Fengsong Wang, Yunxia Cao, Fuxi Zhu
Summary: In this study, a novel homozygous missense mutation of PMFBP1 was identified in an infertile male from a consanguineous family, leading to a significant decrease in expression of the mutant protein in sperm. This mutation may be a cause of acephalic spermatozoa syndrome, providing a basis for genetic counseling for the patient.
JOURNAL OF ASSISTED REPRODUCTION AND GENETICS
(2021)
Article
Biology
Ashok Kumar Narsani, Ali Muhammad Waryah, Muhammad Rafiq, Hina Shaikh, Syed Habib Ahmed Naqvi, Raveet Kumar, Pawan Kumar
Summary: This study revealed the genetic predisposition of CYP1B1 c.1169 G > A variant in Pakistani POAG patients, with higher frequencies of homozygous and heterozygous mutations in males compared to females, and a higher carrier genotype manifestation in juvenile patients.
SAUDI JOURNAL OF BIOLOGICAL SCIENCES
(2022)
Article
Oncology
Qi He, Jingjing Jiang, Jiao Yang, Junjie Zeng, Huan Zhang, Zhengzhong Zhang
Summary: A novel frameshift variant c.4508_c.4509delAT (p.Asn1503fsTer26) of NF1 gene was discovered in a patient and her daughter, expanding the spectrum of pathogenic mutations. This finding could be valuable for genetic counseling and prenatal diagnosis.
AMERICAN JOURNAL OF TRANSLATIONAL RESEARCH
(2022)
Article
Multidisciplinary Sciences
Gongping Sun, Guanyu Fu, Yuanxin Tang, Junjie Yi, Rongjun Su, Wei Liu, Xiaobo Lu, Xiaoxia Li
Summary: This study investigated a Chinese family with multiple members affected by different types of gastrointestinal tumors. Whole-exome sequencing and Sanger sequencing revealed a novel mutation in the ATM gene associated with gastric cancer, colon cancer, and cystic ovarian tumors. This finding expands the mutation spectrum of the ATM gene and provides important information for the prevention and screening of hereditary cancers.
Article
Dermatology
Deng Zhang, Zhen Xiao, Xiaoliang Ouyang, Xiuping Wang, Yunxia Zhu, Simin Yu, Chunming Li
Summary: This study aimed to identify mutations in the ATP2C1 gene in two Chinese pedigrees and two sporadic cases with Hailey-Hailey disease (HHD). Three heterozygous mutations were detected, including two novel compound mutations and one known mutation. The study concluded that the c.1402C>T mutation in the ATP2C1 gene is a regionally highly prevalent mutation in the Chinese population with HHD.
CLINICAL COSMETIC AND INVESTIGATIONAL DERMATOLOGY
(2023)
Editorial Material
Cell Biology
Chun-Ying Lin, Chia-Ling Chang
Summary: HLA-C*07:446 differs from HLA-C*07:02:01:01 by a single nucleotide substitution at position 809 (C -> T) in exon 4.
Editorial Material
Cell Biology
Chia-Ling Chang, Chun-Ying Lin
Summary: HLA-C*03:294 differs from HLA-C*03:04:01:01 by a single nucleotide substitution at position 727 in exon 4.
Article
Cell Biology
Chun-Ying Lin, Chia-Ling Chang
Summary: HLA-C*01:143N differs from HLA-C*01:02:01:01 by a nucleotide substitution at position 585 in exon 3.
Article
Dermatology
Zhe Wang, Zhenzhen Wang, Lele Sun, Xueping Yu, Zheng Pang, Hong Liu, Furen Zhang
Summary: This study successfully identified eight mutations in the ATP2C1 gene and one mutation in the ATP2A2 gene using whole exome sequencing. The overall mutation rate reached 90.4%, demonstrating that whole exome sequencing can improve the mutation detection sensitivity in HHD compared with Sanger sequencing.
JOURNAL OF DERMATOLOGY
(2021)
Article
Oncology
Ruihua Zhao, Tianqi An, Min Liu, Yanan Zhou, Rui Li, Guozhong Jiang, Jing Li, Xinguang Cao, Hong Zong
Summary: This study aimed to investigate the prognostic significance of KIT exon 11 mutation subtypes in patients with GISTs. A total of 233 consecutive patients diagnosed with GISTs at the First Affiliated Hospital of Zhengzhou University from January 2013 to August 2018 were included. The prevalence and mutation landscape of exon 11 in KIT were presented, and the clinicopathological characteristics and prognosis among different mutation subtypes were analyzed.
FRONTIERS IN ONCOLOGY
(2023)
Article
Obstetrics & Gynecology
Saba Shabir, Asia Asiaf
Summary: This study aimed to detect mutations in L-MYC and C-MYC genes in ovarian cancer patients and healthy female volunteers using cell-free DNA. The results showed that cfDNA could be used as a noninvasive method to detect the clinico-genomic profiles and prognostic biomarkers of ovarian cancer patients.
JOURNAL OF OBSTETRICS AND GYNAECOLOGY RESEARCH
(2023)
Article
Medicine, General & Internal
Yaqiong Wang, Jingzhao Mei, Yujie Zhang, Xianghui He, Xiangqian Zheng, Jian Tan, Qiang Jia, Ning Li, Dihua Li, Yan Wang, Zhaowei Meng
Summary: The study conducted whole genome sequencing on a family of six siblings with inherited thyroid cancer susceptibility, identifying CTSF gene as the most promising candidate gene mutation for familial thyroid cancer. Additionally, several known oncogenic driver genes were also recognized. The evaluation of CTSF gene mutations in thyroid cancer patients may be predictive and valuable for familial heredity of thyroid cancer.
AMERICAN JOURNAL OF THE MEDICAL SCIENCES
(2022)
Article
Pediatrics
Peng Huang, Lu Zhang, Li Tang, Yi Ren, Hong Peng, Jie Xiong, Lingjuan Liu, Jie Xu, Yangyang Xiao, Jian Li, Dingan Mao, Liqun Liu
Summary: This study investigated the clinical and genetic characteristics of five pediatric patients with ataxia-telangiectasia (AT) from three pedigrees in China. The findings revealed that AT patients can present with various clinical symptoms, including dystonia as a non-typical manifestation, and identified three novel pathogenic variants of the ATM gene.
FRONTIERS IN PEDIATRICS
(2022)
Article
Genetics & Heredity
Yuhua Ye, Yidan Liang, Qiuxia Yu, Lingling Hu, Haoli Li, Zhenhai Zhang, Xiangmin Xu
Article
Genetics & Heredity
Fu Xiong, Zhisong Ji, Yanhui Liu, Yu Zhang, Lingling Hu, Qi Yang, Qinwei Qiu, Lingfeng Zhao, Dong Chen, Zhihui Tian, Xuan Shang, Leitao Zhang, Xiaofeng Wei, Cuixian Liu, Qiuxia Yu, Meichao Zhang, Jing Cheng, Jun Xiong, Dongri Li, Xiuhua Wu, Huijun Yuan, Wenqing Zhang, Xiangmin Xu
Article
Genetics & Heredity
Qi Yang, Dong Chen, Fu Xiong, Danna Chen, Cuixian Liu, Yanhui Liu, Qiuxia Yu, Jun Xiong, Jinzhong Liu, Kunyang Li, Lingfeng Zhao, Yuhua Ye, Hong Zhou, Lingling Hu, Zhihui Tian, Xuan Shang, Leitao Zhang, Xiaofeng Wei, Wanjun Zhou, Dongri Li, Wenqing Zhang, Xiangmin Xu
JOURNAL OF MEDICAL GENETICS
(2016)
Article
Biochemistry & Molecular Biology
Lingling Hu, Xuan Shang, Sheng Yi, Ren Cai, Zhetao Li, Cuixian Liu, Yidan Liang, Decheng Cai, Feng Zhang, Xiangmin Xu
MOLECULAR GENETICS AND GENOMICS
(2016)
Article
Oncology
Shreyas Lingadahalli, Sudhir Jadhao, Ying Ying Sung, Mi Chen, Lingling Hu, Xin Chen, Edwin Cheung
MOLECULAR CANCER RESEARCH
(2018)
Article
Cell Biology
Xin Chen, Lingling Hu, Yuan Wang, Weijun Sun, Chao Yang
Article
Biochemistry & Molecular Biology
Lingling Hu, Xin Chen, Nitin Narwade, Michelle Gek Liang Lim, Zikai Chen, Chandana Tennakoon, Peiyong Guan, Un In Chan, Zuxianglan Zhao, Mokan Deng, Xiaoling Xu, Wing-Kin Sung, Edwin Cheung
Summary: The study reveals that AR directly regulates a set of signature genes in the ER-to-Golgi transport pathway in PCa, which are essential for cell growth and survival. Inhibiting the ER-to-Golgi transport process enhances the antiandrogen-mediated tumor suppression effect, suggesting a potential therapeutic strategy for advanced PCa.
Article
Multidisciplinary Sciences
Seoyeon Bok, Alisha R. Yallowitz, Jun Sun, Jason Mccormick, Michelle Cung, Lingling Hu, Sarfaraz Lalani, Zan Li, Branden R. Sosa, Tomas Baumgartner, Paul Byrne, Tuo Zhang, Kyle W. Morse, Fatma F. Mohamed, Chunxi Ge, Renny T. Franceschi, Randy T. Cowling, Barry H. Greenberg, David J. Pisapia, Thomas A. Imahiyerobo, Shenela Lakhani, M. Elizabeth Ross, Caitlin E. Hoffman, Shawon Debnath, Matthew B. Greenblatt
Summary: The identity of the calvarial stem cells (CSCs) that produce fusion-driving osteoblasts in craniosynostosis remains poorly understood. This study identified two distinct stem cell lineages and demonstrated their contributions to physiologic calvarial mineralization.
Article
Multidisciplinary Sciences
Jun Sun, Lingling Hu, Seoyeon Bok, Alisha R. Yallowitz, Michelle Cung, Jason McCormick, Ling J. Zheng, Shawon Debnath, Yuzhe Niu, Adrian Y. Tan, Sarfaraz Lalani, Kyle W. Morse, Daniel Shinn, Anthony Pajak, Mohammed Hammad, Vincentius Jeremy Suhardi, Zan Li, Na Li, Lijun Wang, Weiguo Zou, Vivek Mittal, Mathias P. G. Bostrom, Ren Xu, Sravisht Iyer, Matthew B. Greenblatt
Summary: A study has identified a distinct type of spinal skeletal stem cells that play a crucial role in vertebral bone formation and contribute to the high rate of metastasis observed in breast cancer and other solid tumors.
Article
Medicine, Research & Experimental
Heng Sun, Jianming Zeng, Zhengqiang Miao, Kuan Cheok Lei, Chen Huang, Lingling Hu, Sek Man Su, Un In Chan, Kai Miao, Xu Zhang, Aiping Zhang, Sen Guo, Si Chen, Ya Meng, Min Deng, Wenhui Hao, Haipeng Lei, Ying Lin, Zhonglin Yang, Dongjiang Tang, Koon Ho Wong, Xiaohua Douglas Zhang, Xiaoling Xu, Chu-Xia Deng
Summary: The study identified four subtypes of BRCA1 deficient mammary tumors with distinct molecular features and different sensitivities to anti-cancer drugs at the intertumor level, as well as heterogeneous subgroups within the tumors mainly based on different activities of cell proliferation, DNA damage response/repair and epithelial-to-mesenchymal transition (EMT). Furthermore, through pseudo-temporal analysis of scRNA-seq data, the study reconstructed the transcriptome alterations during BRCA1 related mammary tumorigenesis and discovered an oncogene Mrc2 that could reduce mammary tumor growth in vitro and in vivo.
Article
Oncology
Ting Chen, Jin Hou, Ling-Ling Hu, Jie Gao, Bu-Ling Wu
INTERNATIONAL JOURNAL OF CLINICAL AND EXPERIMENTAL PATHOLOGY
(2014)