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A single c.1715G>C calpain 3 gene variant causes dominant calpainopathy with loss of calpain 3 expression and activity
Human Mutation
◽
10.1002/humu.24066
◽
2020
◽
Author(s):
John Vissing
◽
Julia R. Dahlqvist
◽
Carinne Roudaut
◽
Jerome Poupiot
◽
Isabelle Richard
◽
...
Keyword(s):
Gene Variant
◽
Calpain 3
◽
Expression And Activity
Download Full-text
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References
I1307K APC gene variant has no clinical implication in Israeli jews at average or high risk for colorectal neoplasia
Gastroenterology
◽
10.1016/s0016-5085(01)80592-8
◽
2001
◽
Vol 120
(5)
◽
pp. A120-A121
Author(s):
H STRUL
◽
E BIRENBAUM
◽
B STERN
◽
D KAZANOV
◽
L THEODOR
◽
...
Keyword(s):
High Risk
◽
Clinical Implication
◽
Colorectal Neoplasia
◽
Apc Gene
◽
Gene Variant
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1060: Tadalafil does not Up-Regulate the Expression and Activity of Phosphodiesterase 5 (PDE-5) in the Penis
The Journal of Urology
◽
10.1016/s0022-5347(18)35216-9
◽
2005
◽
Vol 173
(4S)
◽
pp. 287-288
Author(s):
Dolores Vemet
◽
Thomas R. Magee
◽
Ansha Qian
◽
Gaby Nolazco
◽
Jacob Rajfer
◽
...
Keyword(s):
Phosphodiesterase 5
◽
Expression And Activity
Download Full-text
A common novel CYP2C19 gene variant causes ultrarapid drug metabolism relevant for the drug response to proton pump inhibitors and anti-depressants
Yearbook of Psychiatry and Applied Mental Health
◽
10.1016/s0084-3970(08)70611-x
◽
2007
◽
Vol 2007
◽
pp. 312-313
Author(s):
P.F. Buckley
Keyword(s):
Drug Metabolism
◽
Proton Pump Inhibitors
◽
Proton Pump
◽
Drug Response
◽
Gene Variant
◽
Cyp2c19 Gene
Download Full-text
Aberrant expression and activity of histone deacetylases (HDACs) in lungs of patients with sporadic Idiopathic Pulmonary Fibrosis (IPF)
Pneumologie
◽
10.1055/s-0032-1315513
◽
2012
◽
Vol 66
(06)
◽
Cited By ~ 1
Author(s):
M Korfei
◽
M Buchwald
◽
W Klepetko
◽
L Fink
◽
W Seeger
◽
...
Keyword(s):
Idiopathic Pulmonary Fibrosis
◽
Pulmonary Fibrosis
◽
Histone Deacetylases
◽
Aberrant Expression
◽
Expression And Activity
Download Full-text
RAGE modulates neuronal glyoxalase-1 transcription, expression and activity
Diabetologie und Stoffwechsel
◽
10.1055/s-2006-943839
◽
2006
◽
Vol 1
(S 1)
◽
Author(s):
SB Stoyanov
◽
GM Haag
◽
I Konrade
◽
IK Lukic
◽
P Humpert
◽
...
Keyword(s):
Glyoxalase 1
◽
Transcription Expression
◽
Expression And Activity
Download Full-text
Lower Hepatic Insulin Sensitivity in a Family with a Recently Described Glucokinase Gene Variant
Diabetes
◽
10.2337/db18-1509-p
◽
2018
◽
Vol 67
(Supplement 1)
◽
pp. 1509-P
◽
Cited By ~ 1
Author(s):
KÁLMÁN BÓDIS
◽
OANA P. ZAHARIA
◽
YANISLAVA KARUSHEVA
◽
PAVEL BOBROV
◽
DANIEL F. MARKGRAF
◽
...
Keyword(s):
Insulin Sensitivity
◽
Gene Variant
◽
Glucokinase Gene
◽
Hepatic Insulin Sensitivity
Download Full-text
Diminished Ca2+Signaling, CaV1 Channel Expression, and Activity in Pancreatic Beta Cells Expressing Mutated DISC1 (Disrupted in Schizophrenia 1)
Diabetes
◽
10.2337/db18-2163-p
◽
2018
◽
Vol 67
(Supplement 1)
◽
pp. 2163-P
Author(s):
PING LU
◽
ROHIT B. SHARMA
◽
LAURA C. ALONSO
◽
RONGHUA ZHUGE
◽
ANN R. RITTENHOUSE
◽
...
Keyword(s):
Beta Cells
◽
Pancreatic Beta Cells
◽
Channel Expression
◽
Expression And Activity
Download Full-text
70-LB: Fat Mass and Obesity-Associated rs9939609 Gene Variant Is Related to Fasting Glucose in Children with Mental Health Conditions
Diabetes
◽
10.2337/db19-70-lb
◽
2019
◽
Vol 68
(Supplement 1)
◽
pp. 70-LB
Author(s):
ALEJANDRA M. WIEDEMAN
◽
YING FAI NGAI
◽
AMANDA M. HENDERSON
◽
CONSTADINA PANAGIOTOPOULOS
◽
ANGELA M. DEVLIN
Keyword(s):
Mental Health
◽
Fat Mass
◽
Fasting Glucose
◽
Health Conditions
◽
Gene Variant
◽
Mental Health Conditions
Download Full-text
Multidrug Resistance-Associated Protein 1 (MRP1) Expression and Activity in Human Distal Lung Epithelial Cells
10.26226/morressier.57d6b2bad462b8028d88e171
◽
2016
◽
Author(s):
Mohammed Ali Selo
Keyword(s):
Multidrug Resistance
◽
Epithelial Cells
◽
Lung Epithelial Cells
◽
Lung Epithelial
◽
Distal Lung
◽
Mrp1 Expression
◽
Expression And Activity
Download Full-text
A Homer1 gene variant influences brain white matter structure and lithium effects in bipolar disorder
10.26226/morressier.5971be83d462b80290b52fcd
◽
2017
◽
Author(s):
Alice Vitali
Keyword(s):
Bipolar Disorder
◽
White Matter
◽
Gene Variant
◽
Brain White Matter
Download Full-text
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