Cohort analysis of novel SPAST variants in SPG4 patients and implementation of in vitro and in vivo studies to identify the pathogenic mechanism caused by splicing mutations by Rosangela Ferese, Simona Scala, Antonio Suppa, Antonio Suppa, Rosa Campopiano, Francesco Asci, Alessandro Zampogna, Maria Antonietta Chiaravalloti, Annamaria Griguoli, Marianna Storto, Alba Di Pardo, Emiliano Giardina, Stefania Zampatti, Francesco Fornai, Francesco Fornai, Giuseppe Novelli, Giuseppe Novelli, Mirco Fanelli, Chiara Zecca, Giancarlo Logroscino, Diego Centonze, Diego Centonze, Stefano Gambardella, Stefano Gambardella

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Identification of a novel TSC1 gene variant in a patient with atypical vitiligo‐like skin lesions: Unveiling the hidden tuberous sclerosis complex by Linli Liu, Yanbo Wang, Zhengzhong Zhang, Chunshui Yu, Jin Chen

Subjects: “…minigene assay…”
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Identification of a novel splicing‐altering LAMP2 variant in a Chinese family with Danon disease by Di Fu, Shuai Wang, Yonghong Luo, Sha Wu, Daoquan Peng

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A novel NTRK1 splice site variant causing congenital insensitivity to pain with anhidrosis in a Chinese family by Ling Sun, Jin Dai, Yuan Zhang, Yuan Zhang, Lijun Zhou, Lijun Zhou, Yaqiong Ren, Yaqiong Ren, Hongying Wang, Hongying Wang, Hongying Wang

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Childhood-Onset Refractory Hypertension Results from Neurofibromatosis Type 1 Caused by a Splicing NF1 Mutation by Yi-Ting Lu, Buweimairemu Rejiepu, Di Zhang, Dong-Cheng Cai, Kun-Qi Yang, Tao Tian, Xian-Liang Zhou, Peng Fan

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Three exonic variants in the PHEX gene cause aberrant splicing in a minigene assay by Fengjiao Pan, Ruixiao Zhang, Xuyan Liu, Xiaomeng Shi, Qing Xin, Qing Xin, Dan Qiao, Changying Li, Yan Zhang, Mengke Chen, Wencong Guo, Wencong Guo, Shufang Luan, Leping Shao, Leping Shao

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A novel COL4A5 splicing mutation causes alport syndrome in a Chinese family by Suyun Chen, Guangbiao Xu, Zhixin Zhao, Juping Du, Bo Shen, Chunping Li

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Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients by Diana Carolina Sierra-Díaz, Adrien Morel, Dora Janeth Fonseca-Mendoza, Nora Contreras Bravo, Nicolas Molano-Gonzalez, Mariana Borras, Isabel Munevar, Mauricio Lema, Henry Idrobo, Daniela Trujillo, Norma Serrano, Ana Isabel Orduz, Diego Lopera, Jaime González, Gustavo Rojas, Paula Londono-De Los Ríos, Ray Manneh, Rodrigo Cabrera, Wilson Rubiano, Jairo de la Peña, María Catalina Quintero, William Mantilla, Carlos M. Restrepo

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A novel LRAT mutation affecting splicing in a family with early onset retinitis pigmentosa by Yabin Chen, Li Huang, Xiaodong Jiao, Sheikh Riazuddin, S. Amer Riazuddin, J. Fielding Hetmancik

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Case Report: MYO5B Homozygous Variant c.2090+3A>T Causes Intron Retention Related to Chronic Cholestasis and Diarrhea by Yu Zheng, Yuming Peng, Shuju Zhang, Hongmei Zhao, Weijian Chen, Yongjia Yang, Zhengmao Hu, Qiang Yin, Yu Peng

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Minigene splicing assays reveal new insights into exonic variants of the SLC12A3 gene in Gitelman syndrome by Xiaomeng Shi, Hong Wang, Ruixiao Zhang, Zhiying Liu, Wencong Guo, Sai Wang, Xuyan Liu, Yanhua Lang, Irene Bottillo, Bingzi Dong, Leping Shao

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Splicing dysregulation contributes to the pathogenicity of several F9 exonic point variants by Upendra K. Katneni, Aaron Liss, David Holcomb, Nobuko H. Katagiri, Ryan Hunt, Haim Bar, Amra Ismail, Anton A. Komar, Chava Kimchi‐Sarfaty

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Molecular dynamics and minigene assay of new splicing variant c.4298-20T>A of COL4A5 gene that cause Alport syndrome by Lei Liang, Haotian Wu, Zeyu Cai, Jianrong Zhao

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The NM_033380.2 transcript of the COL4A5 gene contains a variable splice site c.4822–10T>C, which has been identified as a causative factor for Alport syndrome by Lei Liang, Haotian Wu, Jianrong Zhao

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A novel pathogenic splicing mutation of RPGR in a Chinese family with X-linked retinitis pigmentosa verified by minigene splicing assay by Hui-Qin Wang, Pei-Kuan Cong, Tian He, Xiao-Feng Yu, Ya-Nan Huo

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A novel intronic variant causing aberrant splicing identified in two deaf Chinese siblings with enlarged vestibular aqueducts by Suyang Wang, Yi‐Ming Zhu, ChenYang Xu, Wenjuan Ding, Hui Jia, Panpan Bian, Baicheng Xu, Yufen Guo, Xiaowen Liu

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Congenital nephrotic syndrome associated with 22q11.2 duplication syndrome in a Chinese family and functional analysis of the intronic NPHS1 c. 3286 + 5G > A mutation by Liangliang Li, Zhi Yi, Hongmin Xi, Lili Ma, Hui Shao, Wenwen Wang, Hong Pan, Miaomiao Li, Hong Jiang

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Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome by Lei Liang, Haotian Wu, Zeyu Cai, Jianrong Zhao

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Case report: Dihydropyridine receptor (CACNA1S) congenital myopathy, a novel phenotype with early onset periodic paralysis by Samah K. Aburahma, Liqa A. Rousan, Mohammad Shboul, Fabio Biella, Sabrina Lucchiari, Giacomo Pietro Comi, Giacomo Pietro Comi, Giovanni Meola, Giovanni Meola, Serena Pagliarani

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Effects of a Novel COL4A3 Homozygous/Heterozygous Splicing Mutation on the Mild Phenotype in a Family With Autosomal Recessive Alport Syndrome and a Literature Review by Dan Chen, Li Zhang, Jing Rao, Yan Zhou, Lujun Dai, Songsong Huang, Chunxia Yang, Qiuhan Bian, Tao Zhang, Xiaoyan Yang

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