Search Results - "stop codon"

Mutation analysis of the fibroblast growth factor receptor 3 gene in fetuses with thanatophoric dysplasia, type I by Q.C. Wu, W.B. Wang, L. Sun, Y.S. Xu, X.J. Xie, X.M. Ma, Z.Y. Su

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A novel UGT1A1 gene mutation causing severe unconjugated hyperbilirubinemia: a case report by Xiaoxia Shi, Sem Aronson, Ahmed Sharif Khan, Piter J. Bosma

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The Origin and Evolution of the Genetic Code: 100th Anniversary Year of the Birth of Francis Crick by Koji Tamura (Ed.)

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Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3 by Shin-Wen Chen, Chih-Ping Chen, Liang-Kai Wang, Schu-Rern Chern, Pei-Chen Wu, Yen-Ni Chen, Chen-Ju Lin, Wen-Ling Chen, Wayseen Wang

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Junctional epidermolysis bullosa: genotype-phenotype correlations by Alexey A. Kubanov, Vadim V. Chikin, Arfenya E. Karamova, Ekaterina S. Monchakovskaya

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Two novel TMEM67 variations in a Chinese family with recurrent pregnancy loss: a case report by Jialun Pang, Fanjuan Kong, Wanglan Tang, Hui Xi, Na Ma, Xiaoqi Sheng, Ying Peng, Zhiyu Liu

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Microtubule-targeting drugs rescue axonal swellings in cortical neurons from spastin knockout mice by Coralie Fassier, Anne Tarrade, Leticia Peris, Sabrina Courageot, Philippe Mailly, Cécile Dalard, Stéphanie Delga, Natacha Roblot, Julien Lefèvre, Didier Job, Jamilé Hazan, Patrick A. Curmi, Judith Melki

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A truncating variant altering the extreme C-terminal region of desmoplakin (DSP) suggests the crucial functional role of the region: a case report study by Malena P. Pantou, Polyxeni Gourzi, Vasiliki Vlagkouli, Efstathios Papatheodorou, Alexandros Tsoutsinos, Eva Nyktari, Dimitrios Degiannis, Aris Anastasakis

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Resistance to 16-Membered Macrolides, Tiamulin and Lincomycin in a Swine Isolate of <i>Acholeplasma laidlawii</i> by María M. Tavío, Ana S. Ramírez, Carlos Poveda, Rubén S. Rosales, Cristina F. Malla, José B. Poveda

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A Novel Homozygous VPS13B Splice-Site Mutation Causing the Skipping of Exon 38 in a Chinese Family With Cohen Syndrome by Liangshan Li, Liangshan Li, Xiangmao Bu, Yuhua Ji, Ping Tan, Shiguo Liu

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Transfer RNA-mediated restoration of potassium current and electrical correction in premature termination long-QT syndrome hERG mutants by Viggo G. Blomquist, Jacqueline Niu, Papiya Choudhury, Ahmad Al Saneh, Henry M. Colecraft, Christopher A. Ahern

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RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome by Olatz Villate, Hiart Maortua, Hiart Maortua, María-Isabel Tejada, María-Isabel Tejada, María-Isabel Tejada, Isabel Llano-Rivas

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A novel Cys328-terminator mutant implicated in severe coagulation factor XIII deficiency: a case report by Ruimin Cai, Yi Li, Wenyang Wang, Qiang Feng

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A novel nonsense PTH1R variant shows incomplete penetrance of primary failure of eruption: a case report by Cristina Grippaudo, Concetta Cafiero, Isabella D'Apolito, Agnese Re, Maurizio Genuardi, Pietro Chiurazzi, Sylvia A. Frazier-Bowers

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Efficient and in situ correction of hemoglobin Constant Spring mutation by prime editing in human hematopoietic cells by Congwen Shao, Qing Liu, Jinchao Xu, Jianxiang Zhang, Chengpeng Zhang, Ye Xin, Yuhua Ye, Bin Lin, Xinhua Zhang, Li Cheng, Xiangmin Xu, Peng Xu

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Branchpoints as potential targets of exon-skipping therapies for genetic disorders by Hiroaki Ohara, Motoyasu Hosokawa, Tomonari Awaya, Atsuko Hagiwara, Ryo Kurosawa, Yukiya Sako, Megumu Ogawa, Masashi Ogasawara, Satoru Noguchi, Yuichi Goto, Ryosuke Takahashi, Ichizo Nishino, Masatoshi Hagiwara

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Germline variation of Ribonuclease H2 genes in ovarian cancer patients by Rahel Polaczek, Peter Schürmann, Lisa-Marie Speith, Robert Geffers, Matthias Dürst, Peter Hillemanns, Tjoung-Wo, Clemens Liebrich, Thilo Dörk

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A Novel Germline Mutation of the APC Gene: A Case Report of Familial Adenomatous Polyposis Requiring Repeated Endoscopic Resections for Gastroduodenal Polyps by Jun Hui Lee, Joon Weon Jang, Byung-Wook Kim, Eun Su Park, Sang Yong Kim

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METTL3 Facilitates Oral Squamous Cell Carcinoma Tumorigenesis by Enhancing c-Myc Stability via YTHDF1-Mediated m6A Modification by Wei Zhao, Yameng Cui, Lina Liu, Xiaozhou Ma, Xiaoqian Qi, Yue Wang, Zihao Liu, Shiqing Ma, Jingwen Liu, Jie Wu

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Maternal Primary Carnitine Deficiency and a Novel Solute Carrier Family 22 Member 5 (SLC22A5) Mutation by Michael Jakoby MD, MA, Amruta Jaju MD, Aundrea Marsh BS, Andrew Wilber PhD

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