Results 151 to 160 of about 1,404,124 (275)

Mutational Analysis of the SOX9 Gene in Campomelic Dysplasia and Autosomal Sex Reversal: Lack of Genotype/Phenotype Correlations [PDF]

, 2017
It has previously been shown that, in the heterozygous state, mutations in the SOX9 gene cause campomelic dysplasia (CD) and the often associated autosomal XY sex reversal.
Dagna Bricarelli, Franca, Eggermont, Ephrem, Friedrich, Ursula, Haas, Oskar A., Held, Marika, Kobelt, Albrecht, Leroy, Jules G., Meyer, Jobst, Michel, Erik, Mitulla, Beate, Pfeiffer, Rudolf A., Scherer, Gerd, Schinzel, Albert, Schmidt, Heinrich, Schmitz, M. Lienhard, Südbeck, Peter, Van Maldergem, Lionel, Wagner, Thomas   +17 more
core  

A NEW β°‐THALASSAEMIA NONSENSE MUTATION (CODON 112, T→A) NOT ASSOCIATED WITH A DOMINANT TYPE OF THALASSAEMIA IN THE HETEROZYGOTE [PDF]

, 1993
Vladimír Divoký, L‐H. Gu, Karel Indrák, K. Mocikova, M. Zarnovicanova, T. H. J. Huisman   +5 more
openalex   +1 more source

A nonsense mutation 1669Glu-->Ter within the regulatory domain of human erythroid ankyrin leads to a selective deficiency of the major ankyrin isoform (band 2.1) and a phenotype of autosomal dominant hereditary spherocytosis. [PDF]

, 1995
Petr Jarolı́m, Hillard Rubin, V Brabec, J Palek   +3 more
openalex   +1 more source

Gentamicin B1 is a minor gentamicin component with major nonsense mutation suppression activity

Proceedings of the National Academy of Sciences of the United States of America, 2017
Alireza Baradaran-Heravi, J. Niesser, A. Balgi, Kunho Choi, Carla Zimmerman, A. South, H. Anderson, N. Strynadka, M. Bally, M. Roberge   +9 more
semanticscholar   +1 more source

Congenital Myasthenic Syndromes due to Heteroallelic Nonsense/Missense Mutations in the Acetylcholine Receptor Subunit Gene: Identification and Functional Characterization of Six New Mutations [PDF]

, 1997
Kinji Ohno, Polly A. Quiram, Margherita Milone, Hai-Long Wang, Marion C. Harper, J. Ned Pruitt, Joan M. Brengman, Lily Pao, Kenneth H. Fischbeck, Thomas O. Crawford, Steven M. Sine, Andrew G. Engel   +11 more
openalex   +1 more source

Identification of a nonsense mutation at the 5' end of the TSC2 gene in a family with a presumptive diagnosis of tuberous sclerosis complex. [PDF]

, 1996
Radek Vrtěl, Senno Verhoef, K. Bouman, Magitha M. Maheshwar, Mark Nellist, Anthonie J. van Essen, Petra L. Bakker, Caroline Hermans, Margreet Th.E. Bink‐Boelkens, Ruurd M. van Elburg, M. Hoff, Dick Lindhout, Julian R. Sampson, D. J. J. Halley, A M van den Ouweland   +14 more
openalex   +1 more source

A nonsense mutation in Ccdc62 gene is responsible for spermiogenesis defects and male infertility in repro29/repro29 mice†

Biology of Reproduction, 2017
Yuchi Li, Cailing Li, Shou-ren Lin, Bo Yang, Weiren Huang, Hanwei Wu, Yuanbin Chen, Lihua Yang, Man-ling Luo, Huan Guo, Jian-bo Chen, Tiantian Wang, Qian Ma, Yanli Gu, Lisha Mou, Zhi-mao Jiang, Jun Xia, Yaoting Gui   +17 more
semanticscholar   +1 more source

A novel nonsense mutation in the fumarate hydratase gene in a Chinese patient with recurrent leiomyomas. [PDF]

F S Rep, 2023
Ruan Y, Feng W, Yang C.
europepmc   +1 more source

Nonsense Mutations Inhibit RNA Splicing in a Cell-Free System: Recognition of Mutant Codon Is Independent of Protein Synthesis [PDF]

, 1996
Saïd Aoufouchi, José Yélamos, C. Milstein   +2 more
openalex   +1 more source

Novel ITGB4 Mutations in Lethal and Nonlethal Variants of Epidermolysis Bullosa with Pyloric Atresia: Missense versus Nonsense [PDF]

, 1998
Leena Pulkkinen, Fatima Rouan, Leena Bruckner–Tuderman, Robert Wallerstein, Maria C. Garzón, Tod A. Brown, Lynne T. Smith, William Carter, Jouni Uitto   +8 more
openalex   +1 more source