A Novel Missense Mutation (C522Y) Is Present in the β-Hexosaminidase β-Subunit Gene of a Japanese Patient with Infantile Sandhoff Disease

1995 ◽  
Vol 212 (2) ◽  
pp. 564-571 ◽  
Author(s):  
Y. Kuroki ◽  
K. Itoh ◽  
Y. Nadaoka ◽  
T. Tanaka ◽  
H. Sakuraba
Keyword(s):  
Missense Mutation ◽  
Japanese Patient ◽  
Sandhoff Disease ◽  
Β Subunit ◽  
Subunit Gene

Heterozygous missense mutation in the rod cGMP phosphodiesterase β–subunit gene in autosomal dominant stationary night blindness

1994 ◽  
Vol 7 (1) ◽  
pp. 64-68 ◽  
Author(s):  
Andreas Gal ◽  
Ulrike Orth ◽  
Wolfgang Baehr ◽  
Eberhard Schwinger ◽  
Thomas Rosenberg
Keyword(s):  
Missense Mutation ◽  
Night Blindness ◽  
Autosomal Dominant ◽  
Β Subunit ◽  
Subunit Gene ◽  
Cgmp Phosphodiesterase ◽  
Heterozygous Missense Mutation

Two mutations remote from an exon/intron junction in the β-hexosaminidase β-subunit gene affect 3'-splice site selection and cause Sandhoff disease

1998 ◽  
Vol 103 (4) ◽  
pp. 462-469 ◽  
Author(s):  
Mutsuko Fujimaru ◽  
A. Tanaka ◽  
Kyuchul Choeh ◽  
Nobuaki Wakamatsu ◽  
Hitoshi Sakuraba ◽  
...  
Keyword(s):  
Splice Site ◽  
Site Selection ◽  
Sandhoff Disease ◽  
Β Subunit ◽  
Subunit Gene ◽  
Splice Site Selection

scholarly journals Inefficiency in GM2 Ganglioside Elimination by Human Lysosomal β-Hexosaminidase β-Subunit Gene Transfer to Fibroblastic Cell Line Derived from Sandhoff Disease Model Mice

2006 ◽  
Vol 29 (8) ◽  
pp. 1564-1569 ◽  
Author(s):  
Tomohiro Itakura ◽  
Aya Kuroki ◽  
Yasuhiro Ishibashi ◽  
Daisuke Tsuji ◽  
Eri Kawashita ◽  
...  
Keyword(s):  
Gene Transfer ◽  
Cell Line ◽  
Disease Model ◽  
Sandhoff Disease ◽  
Β Subunit ◽  
Subunit Gene ◽  
Fibroblastic Cell ◽  
Gm2 Ganglioside

The chorionic gonadotropin β-subunit gene is controlled by Pitx1 and Egr1

2007 ◽  
Vol 115 (S 1) ◽  
Author(s):  
A Henke ◽  
M Simoni ◽  
E Nieschlag ◽  
J Gromoll
Keyword(s):  
Chorionic Gonadotropin ◽  
Β Subunit ◽  
Subunit Gene

Cloning and Analyzing of G-protein β-Subunit Gene in Rhizoctonia solani Causing Soybean Sharp Eyespot

2009 ◽  
Vol 35 (2) ◽  
pp. 370-374
Author(s):  
Bing-Tian MA ◽  
Guang-Lin QU ◽  
Wen-Juan HUANG ◽  
Yu-Fan LIN ◽  
Shi-Gui LI
Keyword(s):  
Rhizoctonia Solani ◽  
G Protein ◽  
Β Subunit ◽  
Subunit Gene ◽  
Sharp Eyespot

Abnormal neurodevelopment outcome in case of neonatal hyperekplexia secondary to missense mutation in GLRB gene

2020 ◽  
Vol 13 (12) ◽  
pp. e236152
Author(s):  
Naveen Parkash Gupta ◽  
Vinita Verma ◽  
Saurabh Chopra ◽  
Vivek Choudhury
Keyword(s):  
Genetic Testing ◽  
Missense Mutation ◽  
Genetic Predisposition ◽  
Seizure Disorder ◽  
Β Subunit ◽  
Tonic Spasm ◽  
Initial Improvement ◽  
External Stimuli ◽  
Neurodevelopment Outcome

Hyperekplexia is an exaggerated startle to external stimuli associated with a generalised increase in tone seen in neonates with both sporadic and genetic predisposition. This is an uncommon neurological entity that is misdiagnosed as seizure. A 28-days-old infant was admitted to us with characteristic intermittent generalised tonic spasm being treated as a seizure disorder. The infant had characteristic stiffening episode, exaggerated startle and non-habituation on tapping the nose. Hyperekplexia was suspected and confirmed by genetic testing (mutation in the β subunit of glycine was found). Initial improvement was seen with the use of clonazepam, which was not sustained. At the age of 4.5 years, the child is still having neurobehavioural issues like hyperactivity and sensory hyper-responsiveness. Usually, hyperekplexia is benign in nature. We report a case of hyperekplexia with non-sense mutation in the β subunit of GlyR gene having abnormal neurodevelopmental findings at 4.5 years.

Influence of thyroid hormones on the human ATP synthase β-subunit gene promoter

1996 ◽  
Vol 154 (2) ◽  
pp. 107-111 ◽  
Author(s):  
Immaculada Martin ◽  
Josep A. Villena ◽  
Marta Giralt ◽  
Roser Iglesias ◽  
Teresa Mampel ◽  
...  
Keyword(s):  
Thyroid Hormones ◽  
Atp Synthase ◽  
Gene Promoter ◽  
Β Subunit ◽  
Subunit Gene
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