A novel complex insertion-deletion mutation in the FOXC2 gene in a Japanese patient with Lymphedema-Distichiasis Syndrome

2013 ◽  
Vol 23 (3) ◽  
pp. 411-413 ◽  
Author(s):  
Munenari Itoh ◽  
Hidemi Nakagawa
Keyword(s):  
Japanese Patient ◽  
Deletion Mutation ◽  
Novel Complex

scholarly journals A Novel Deletion Mutation of SLC16A2 Encoding Monocarboxylate Transporter (MCT) 8 in a 26-year-old Japanese Patient with Allan-Herndon-Dudley Syndrome

2013 ◽  
Vol 22 (4) ◽  
pp. 83-86 ◽  
Author(s):  
Sayaka Yamamoto ◽  
Koji Okuhara ◽  
Hidefumi Tonoki ◽  
Susumu Iizuka ◽  
Noriko Nihei ◽  
...  
Keyword(s):  
Japanese Patient ◽  
Deletion Mutation ◽  
Monocarboxylate Transporter ◽  
Old Japanese

scholarly journals A Novel Complex Insertion/Deletion Mutation in the XPC DNA Repair Gene Leads to Skin Cancer in an Iraqi Family

2006 ◽  
Vol 126 (11) ◽  
pp. 2542-2544 ◽  
Author(s):  
Steffen Emmert ◽  
Tino Wetzig ◽  
Kyoko Imoto ◽  
Sikandar G. Khan ◽  
Kyu-Seon Oh ◽  
...  
Keyword(s):  
Dna Repair ◽  
Skin Cancer ◽  
Deletion Mutation ◽  
Repair Gene ◽  
Dna Repair Gene ◽  
Novel Complex

A 4-base pair deletion mutation of Gsα gene in a Japanese patient with pseudohypoparathyroidism

1996 ◽  
Vol 19 (4) ◽  
pp. 236-241 ◽  
Author(s):  
M. Yokoyama ◽  
Kyoko Takeda ◽  
K. Iyota ◽  
T. Okabayashi ◽  
K. Hashimoto
Keyword(s):  
Base Pair ◽  
Japanese Patient ◽  
Deletion Mutation ◽  
Base Pair Deletion ◽  
Gsα Gene

Genetic analysis of a Japanese patient with butyrylcholinesterase deficiency

1997 ◽  
Vol 61 (6) ◽  
pp. 491-496 ◽  
Author(s):  
K. HIDAKA ◽  
I. IUCHI ◽  
M. TOMITA ◽  
Y. WATANABE ◽  
Y. MINATOGAWA ◽  
...  
Keyword(s):  
Genetic Analysis ◽  
Japanese Patient

scholarly journals Complete Maternal Isodisomy of Chromosome 5 in a Japanese Patient with Netherton Syndrome

2014 ◽  
Vol 134 (3) ◽  
pp. 849-852 ◽  
Author(s):  
Sanae Numata ◽  
Takahiro Hamada ◽  
Kwesi Teye ◽  
Mitsuhiro Matsuda ◽  
Norito Ishii ◽  
...  
Keyword(s):  
Japanese Patient ◽  
Chromosome 5 ◽  
Netherton Syndrome

scholarly journals Substrate Spectrum Extension of PenA in Burkholderia thailandensis with a Single Amino Acid Deletion, Glu168del

2012 ◽  
Vol 56 (7) ◽  
pp. 4005-4008 ◽  
Author(s):  
Hyojeong Yi ◽  
Karan Kim ◽  
Kwang-Hwi Cho ◽  
Oksung Jung ◽  
Heenam Stanley Kim
Keyword(s):  
Deletion Mutation ◽  
Single Amino Acid ◽  
Functional Domain ◽  
Amino Acid Deletion ◽  
Burkholderia Thailandensis ◽  
Content Type ◽  
Class A ◽  
Omega Loop ◽  
Substitution Mutations ◽  
Substrate Spectrum

ABSTRACTWe describe a deletion mutation in a class A β-lactamase, PenA, ofBurkholderia thailandensisthat extended the substrate spectrum of the enzyme to include ceftazidime. Glu168del was located in a functional domain called the omega loop causing expansion of the space in the loop, which in turn increased flexibility at the active site. This deletion mutation represents a rare but significant alternative mechanical path to substrate spectrum extension in PenA besides more common substitution mutations.

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