Absence of MHC class II gene expression in a patient with a single amino acid substitution in the class II transactivator protein CIITA

1999 ◽  
Vol 49 (11-12) ◽  
pp. 957-963 ◽  
Author(s):  
Virginia Quan ◽  
Michael Towey ◽  
Steven Sacks ◽  
A.P. Kelly
Keyword(s):  
Gene Expression ◽  
Amino Acid ◽  
Mhc Class Ii ◽  
Amino Acid Substitution ◽  
Class Ii ◽  
Single Amino Acid Substitution ◽  
Single Amino Acid ◽  
Class Ii Transactivator ◽  
Transactivator Protein

scholarly journals A large compressibility change of protein induced by a single amino acid substitution

1996 ◽  
Vol 5 (3) ◽  
pp. 542-545 ◽  
Author(s):  
Kunihiko Gekko ◽  
Youjiro Tamura ◽  
Eiji Ohmae ◽  
Hideyuki Hayashi ◽  
Hiroyuki Kagamiyama ◽  
...  
Keyword(s):  
Amino Acid ◽  
Amino Acid Substitution ◽  
Single Amino Acid Substitution ◽  
Single Amino Acid

scholarly journals A single amino acid substitution in the Ω-like loop of E. coli PBP5 disrupts its ability to maintain cell shape and intrinsic beta-lactam resistance

Microbiology ◽  
2015 ◽  
Vol 161 (4) ◽  
pp. 895-902 ◽  
Author(s):  
Mouparna Dutta ◽  
Debasish Kar ◽  
Ankita Bansal ◽  
Sandeep Chakraborty ◽  
Anindya S. Ghosh
Keyword(s):  
Amino Acid ◽  
Amino Acid Substitution ◽  
Cell Shape ◽  
Single Amino Acid Substitution ◽  
Single Amino Acid ◽  
Beta Lactam ◽  
E Coli

A single amino acid substitution in the H-2Kb molecule generates a defined allogeneic epitope

1993 ◽  
Vol 30 (18) ◽  
pp. 1671-1677 ◽  
Author(s):  
Krishna V. Kesari ◽  
Grada van Bleek ◽  
Stanley G. Nathenson ◽  
Jan Geliebter
Keyword(s):  
Amino Acid ◽  
Amino Acid Substitution ◽  
Single Amino Acid Substitution ◽  
Single Amino Acid

Mutant Fetal Hemoglobin Causing Cyanosis in a Newborn

PEDIATRICS ◽  
1989 ◽  
Vol 83 (5) ◽  
pp. 734-736
Author(s):  
John R. Priest ◽  
Jan Watterson ◽  
Richard T. Jones ◽  
Anne E. Faassen ◽  
Bo E. Hedlund
Keyword(s):  
Amino Acid ◽  
Amino Acid Substitution ◽  
Clinical Evidence ◽  
Fetal Hemoglobin ◽  
Single Amino Acid Substitution ◽  
Single Amino Acid ◽  
Globin Chain ◽  
Chain Synthesis ◽  
A Site ◽  
Β Chain

A well but cyanotic newborn was found to have a mutant γ-globin chain, leading to a functionally abnormal fetal hemoglobin. A single amino acid substitution was found in a site consistent with known adult M hemoglobins. This patient showed no clinical evidence of cyanosis at 5 weeks of age as γ-chain synthesis was replaced by β-chain synthesis. A sibling born 20 months later was also cyanotic and the same mutant hemoglobin was found.

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