Search Results - "intron"

Mutations and intron polymorphisms in voltage-gated sodium channel genes of different geographic populations of Culex pipiens pallens/Culex pipiens quinquefasciatus in China by Wenyu Li, Delong Ma, Qunzheng Mu, Xinxin Zhou, Dongdong Hua, Chunchun Zhao, Qiyong Liu, Jun Wang, Fengxia Meng

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Intronic mutation of the VHL gene associated with central nervous system hemangioblastomas in two Chinese families with Von Hippel-Lindau disease: case report by Zhen Liu, Jingcheng Zhou, Liang Li, Zhiqiang Yi, Runchun Lu, Chunwei Li, Kan Gong

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Identification and characterization of dystrophin-locus-derived testis-specific protein: A testis-specific gene within the intronic region of the rat dystrophin gene by Keitaro YAMANOUCHI, Shizuka KATO, Yukie TANAKA, Masanari IKEDA, Yukina OSHIMO, Takanori SHIGA, Kei HATAMOTO, James CHAMBERS, Takuya IMAMURA, Ryuji HIRAMATSU, Kazuyuki UCHIDA, Fuko MATSUDA, Takashi MATSUWAKI, Tetsuya KOHSAKA

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Novel deep intronic mutation in the coagulation factor XIII a chain gene leading to unexpected RNA splicing in a patient with factor XIII deficiency by Jun Deng, Dan Li, Heng Mei, Liang Tang, Hua-fang Wang, Yu Hu

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A luteinizing hormone receptor intronic variant is significantly associated with decreased risk of Alzheimer's disease in males carrying an apolipoprotein E ε4 allele by Gleason Carey E, Meethal Sivan, Ahmadi M Reza, Haasl Ryan J, Johnson Sterling C, Asthana Sanjay, Bowen Richard L, Atwood Craig S

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An intronic ncRNA-dependent regulation of SORL1 expression affecting Aβ formation is upregulated in post-mortem Alzheimer's disease brain samples by Eleonora Ciarlo, Sara Massone, Ilaria Penna, Mario Nizzari, Arianna Gigoni, Giorgio Dieci, Claudio Russo, Tullio Florio, Ranieri Cancedda, Aldo Pagano

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PC Splice-Site Variant c.1825+5G>A Caused Intron Retention in a Patient With Pyruvate Carboxylase Deficiency: A Case Report by DongYing Tao, HuiQin Zhang, Jingmin Yang, HuanHong Niu, JingJing Zhang, Minghua Zeng, ShengQuan Cheng

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Case report: Altered pre-mRNA splicing caused by intronic variant c.1499 + 1G > A in the SLC4A4 gene by Yan Liu, Wenchao Sheng, Wenchao Sheng, Wenchao Sheng, Jinying Wu, Jinying Wu, Jie Zheng, Jie Zheng, Xiufang Zhi, Xiufang Zhi, Xiufang Zhi, Shuyue Zhang, Shuyue Zhang, Shuyue Zhang, Chunyu Gu, Chunyu Gu, Chunyu Gu, Detong Guo, Detong Guo, Detong Guo, Wenhong Wang

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A mutation at IVS1 + 5 of the <it>von Hippel-Lindau </it>gene resulting in intron retention in transcripts is not pathogenic in a patient with a tongue cancer?... by Asakawa Takeshi, Esumi Mariko, Endo Sohei, Kida Akinori, Ikeda Minoru

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An integrative genomic approach reveals coordinated expression of intronic miR-335, miR-342, and miR-561 with deregulated host genes in multiple myeloma by Agnelli Luca, Mosca Laura, Lionetti Marta, Ronchetti Domenica, Andronache Adrian, Fabris Sonia, Deliliers Giorgio, Neri Antonino

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Evolutionary Feedbacks Between Population Biology and Genome Architecture by Tariq Ezaz

Subjects: “…intron…”
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Acute pancreatitis following asparaginase treatment in pediatric acute lymphoblastic leukemia with a heterozygous SPINK1 c.194 + 2T>C intronic variant: a case report by Hua Zhou, Jun Lu, Tao Wang, Tao Wang, Xiaoyan Gu, Xueya Li, Jing Zhao

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OTC intron 4 variations mediate pathogenic splicing patterns caused by the c.386G>A mutation in humans and spfash mice, and govern susceptibility to RNA-based therapies by Claudia Sacchetto, Laura Peretto, Francisco Baralle, Iva Maestri, Francesca Tassi, Francesco Bernardi, Stan F. J. van de Graaf, Franco Pagani, Mirko Pinotti, Dario Balestra

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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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Double-target Antisense U1snRNAs Correct Mis-splicing Due to c.639+861C>T and c.639+919G>A GLA Deep Intronic Mutations by Lorenzo Ferri, Giuseppina Covello, Anna Caciotti, Renzo Guerrini, Michela Alessandra Denti, Amelia Morrone

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A second hit somatic (p.R905W) and a novel germline intron-mutation of TSC2 gene is found in intestinal lymphangioleiomyomatosis: a case report with literature review by Bogyeong Han, Juhwan Lee, Yoon Jin Kwak, Hyun-Young Kim, Kwang Hoon Lee, Yumi Shim, Hyunju Lee, Sung-Hye Park

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SLC4A4 compound heterozygous mutations in exon-intron boundary regions presenting with severe proximal renal tubular acidosis and extrarenal symptoms coexisting with Turner's syndrome: a case report by Shoko Horita, Enver Simsek, Tulay Simsek, Nilgun Yildirim, Hiroyuki Ishiura, Motonobu Nakamura, Nobuhiko Satoh, Atsushi Suzuki, Hiroyuki Tsukada, Tomohito Mizuno, George Seki, Shoji Tsuji, Masaomi Nangaku

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Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies by Merlini Luciano, Bertini Enrico, Mercuri Eugenio, Grumati Paolo, Fabris Marina, Sabatelli Patrizia, Urciuolo Anna, Martoni Elena, Neri Marcella, Bovolenta Matteo, Bonaldo Paolo, Ferlini Alessandra, Gualandi Francesca

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Prenatal diagnosis and molecular genetic analysis of short rib-polydactyly syndrome type III (Verma-Naumoff) in a second-trimester fetus with a homozygous splice site mutation in intron 4 in the NEK1 gene by Chih-Ping Chen, Schu-Rern Chern, Tung-Yao Chang, Yi-Ning Su, Yi-Yung Chen, Jun-Wei Su, Wayseen Wang

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Organelle Genetics in Plants

Subjects: “…introns…”
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