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Your search keyword '"Amino Acids, Basic genetics"' showing total 4 results
Start Over Descriptor "Amino Acids, Basic genetics" Topic mutation
4 results on '"Amino Acids, Basic genetics"'

1. Oncogenic basic amino acid insertions at the extracellular juxtamembrane region of IL7RA cause receptor hypersensitivity.

Author

Weijenborg Campos L, Pini Zenatti P, Granato Pissinato L, Libanio Rodrigues GO, Artico LL, Rafael Guimarães T, Fröhlich Archangelo L, Martínez L, Brooks AJ, and Yunes JA

Subjects
Amino Acid Sequence, Amino Acids, Basic metabolism, Animals, B-Lymphocytes metabolism, B-Lymphocytes pathology, Carcinogenesis genetics, Carcinogenesis metabolism, Female, Humans, Immunoglobulin gamma-Chains metabolism, Interleukin-7 metabolism, Mice, Mice, Inbred C3H, Mutagenesis, Insertional, Sequence Homology, Amino Acids, Basic genetics, Carcinogenesis pathology, Cell Membrane metabolism, Interleukin-7 Receptor alpha Subunit genetics, Interleukin-7 Receptor alpha Subunit metabolism, Mutation, Receptors, Immunologic metabolism
Published
2019
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2. A novel alanine or threonine 789 to proline mutation causing type 2N von Willebrand's disease when inherited homozygously or heterozygously with arginine 854 to glutamine mutation.

Author

Enayat MS, Guilliatt AM, Short PE, Rastegar-Lari G, Jazebi M, Ravonbod S, Ala F, Chapman OG, and Hill FG

Subjects
Asian People, Exons, Factor VIII analysis, Female, Genotype, Heterozygote, Homozygote, Humans, Male, Sequence Analysis, DNA, United Kingdom, von Willebrand Factor analysis, Amino Acids, Basic genetics, Amino Acids, Cyclic genetics, Mutation genetics, von Willebrand Disease, Type 2 genetics, von Willebrand Factor genetics
Published
2010
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3. Molecular basis of factor X deficiency cases from India.

Author

Mota L, Shetty S, Idicula-Thomas S, and Ghosh K

Subjects
Adult, Amino Acids, Basic genetics, Child, DNA Mutational Analysis, Factor X chemistry, Female, Humans, India, Male, Middle Aged, Phenotype, Young Adult, Asian People genetics, Factor X Deficiency genetics, Mutation genetics, Polymorphism, Genetic
Published
2010
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4. Characterization of replication defects induced by mutations in the basic domain and C-terminus of HIV-1 matrix.

Author

Bhatia AK, Campbell N, Panganiban A, and Ratner L

Subjects
Amino Acids, Basic genetics, Cell Line, HIV Antigens chemistry, HIV Antigens physiology, HIV Envelope Protein gp41 genetics, HIV Envelope Protein gp41 metabolism, HIV-1 genetics, Humans, Models, Molecular, Protein Structure, Tertiary, Sequence Deletion, Virion chemistry, Virus Assembly genetics, Virus Internalization, Virus Replication genetics, env Gene Products, Human Immunodeficiency Virus analysis, env Gene Products, Human Immunodeficiency Virus metabolism, gag Gene Products, Human Immunodeficiency Virus chemistry, gag Gene Products, Human Immunodeficiency Virus physiology, HIV Antigens genetics, HIV-1 growth & development, Mutation, Virus Replication physiology, gag Gene Products, Human Immunodeficiency Virus genetics
Abstract

Extensive mutagenesis has defined distinct functional domains in the HIV-1 matrix domain (MA). In an attempt to more clearly define functions of regions of MA which affect viral entry, we analyzed mutations in the N-terminal basic and the C-terminal helical domains. Deletions of 8-10 amino acid residues of the C-terminal fifth helix of MA resulted in viruses that were only mildly defective in infectivity and fusion. The defect exhibited by these mutations could largely be attributed to a reduction in levels of viral envelope incorporated into mature virions. Truncation of the gp41 cytoplasmic tail (gp41CT) could rescue the phenotype of one of these mutants. In contrast, mutations of multiple basic residues in the N-terminus of MA were severely defective in both infectivity and fusion. While these mutations induce severe envelope incorporation defects, they also result in virus crippled at a post-entry step, since truncation of the gp41CT could not rescue the infectivity defect.

Published
2007
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