Mutations in the gene encoding ɛ-sarcoglycan cause myoclonus–dystonia syndrome

10.1038/ng709 ◽  
2001 ◽  
Vol 29 (1) ◽  
pp. 66-69 ◽  
Author(s):  
Alexander Zimprich ◽  
Monika Grabowski ◽  
Friedrich Asmus ◽  
Markus Naumann ◽  
Daniela Berg ◽  
...  
Keyword(s):  
Gene Encoding ◽  
Myoclonus Dystonia

1.271 MUTATION SPECTRUM OF GENE ENCODING EPSILON-SARCOGLYCAN IN MYOCLONUS-DYSTONIA SYNDROME

2012 ◽  
Vol 18 ◽  
pp. S64-S65
Author(s):  
M. Rudzińska ◽  
M. Szubiga ◽  
M. Bik-Multanowski ◽  
P. Janik ◽  
A. Potulska-Chromik ◽  
...  
Keyword(s):  
Mutation Spectrum ◽  
Gene Encoding ◽  
Myoclonus Dystonia

B-Vitamins, Methylenetetrahydrofolate Reductase (MTHFR) and Hypertension

2011 ◽  
Vol 81 (4) ◽  
pp. 240-244 ◽  
Author(s):  
Mary Ward ◽  
Carol P Wilson ◽  
J J Strain ◽  
Geraldine Horigan ◽  
John M. Scott ◽  
...  
Keyword(s):  
Blood Pressure ◽  
Cardiovascular Disease ◽  
Risk Factor ◽  
Low Dose ◽  
Methylenetetrahydrofolate Reductase ◽  
Genetic Determinant ◽  
Gene Encoding ◽  
Homocysteine Concentration ◽  
Homozygous Mutant ◽  
B Vitamin

Hypertension is a leading risk factor for cardiovascular disease (CVD) and stroke. A common polymorphism in the gene encoding the enzyme methylenetetrahydrofolate reductase (MTHFR), previously identified as the main genetic determinant of elevated homocysteine concentration and also recognized as a risk factor for CVD, appears to be independently associated with hypertension. The B-vitamin riboflavin is required as a cofactor by MTHFR and recent evidence suggests it may have a role in modulating blood pressure, specifically in those with the homozygous mutant MTHFR 677 TT genotype. If studies confirm that this genetic predisposition to hypertension is correctable by low-dose riboflavin, the findings could have important implications for the management of hypertension given that the frequency of this polymorphism ranges from 3 to 32 % worldwide.

Identification of a single-copy gene encoding a Type I chlorophyll a/b-binding polypeptide of photosystem I in Arabidopsis thaliana

1992 ◽  
Vol 84 (4) ◽  
pp. 561-567 ◽  
Author(s):  
Poul E. Jensen ◽  
Michael Kristensen ◽  
Tine Hoff ◽  
Jan Lehmbeck ◽  
Bjarne M. Stummann ◽  
...  
Keyword(s):  
Arabidopsis Thaliana ◽  
Chlorophyll A ◽  
Photosystem I ◽  
Single Copy ◽  
Type I ◽  
Single Copy Gene ◽  
Gene Encoding ◽  
Copy Gene

The gene encoding clusterin may be associated with non-union

IBMS BoneKEy ◽  
2015 ◽  
Vol 12 ◽  
pp. 696
Keyword(s):  
Gene Encoding ◽  
Non Union

Myoclonus dystonia without dystonia

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
M Baumgartner
Keyword(s):  
Myoclonus Dystonia

Characterisation of Type 2N von Willebrand Disease Using Phenotypic and Molecular Techniques

1996 ◽  
Vol 75 (06) ◽  
pp. 959-964 ◽  
Author(s):  
I M Nesbitt ◽  
A C Goodeve ◽  
A M Guilliatt ◽  
M Makris ◽  
F E Preston ◽  
...  
Keyword(s):  
Direct Sequencing ◽  
Von Willebrand Disease ◽  
Molecular Techniques ◽  
Haemophilia A ◽  
Binding Region ◽  
Gene Encoding ◽  
Covalently Linked ◽  
Von Willebrand ◽  
Willebrand Factor

Summaryvon Willebrand factor (vWF) is a multimeric glycoprotein found in plasma non covalently linked to factor VIII (FVIII). Type 2N von Willebrand disease (vWD) is caused by a mutation in the vWF gene that results in vWF with a normal multimeric pattern, but with reduced binding to FVIII.We have utilised methods for the phenotypic and genotypic detection of type 2N vWD. The binding of FVIII to vWF in 69 patients, 36 with type 1 vWD, 32 with mild haemophilia A and one possible haemophilia A carrier with low FVIII levels was studied. Of these, six were found to have reduced binding (five type 1 vWD, one possible haemophilia A carrier), DNA was extracted from these patients and exons 18-23 of the vWF gene encoding the FVIII binding region of vWF were analysed. After direct sequencing and chemical cleavage mismatch detection, a Thr28Met mutation was detected in two unrelated individuals, one of whom appears to be a compound heterozygote for the mutation and a null allele. No mutations were found in the region of the vWF gene encoding the FVIII binding region of vWF in the other four patients

Mutation analysis of the gene encoding the ryanodine receptor gene isoform 3 (RYR3) in recurrent neuroleptic malignant syndrome

2004 ◽  
Vol 36 (05) ◽  
Author(s):  
M Dettling ◽  
C Opgen-Rhein ◽  
T Sander ◽  
M Weber ◽  
OK Steinlein
Keyword(s):  
Neuroleptic Malignant Syndrome ◽  
Ryanodine Receptor ◽  
Mutation Analysis ◽  
Receptor Gene ◽  
Gene Encoding ◽  
Gene Isoform
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