167 An in-vitro study of distal hereditary motor neuropathy due to homozygous HSJ1 mutations

2012 ◽  
Vol 83 (3) ◽  
pp. e1.123-e1
Author(s):  
A Rossor ◽  
B Kalmar ◽  
A Gray ◽  
W Mustill ◽  
G Schiavo ◽  
...  
Keyword(s):  
In Vitro Study ◽  
Vitro Study ◽  
Motor Neuropathy ◽  
Hereditary Motor ◽  
Hereditary Motor Neuropathy

scholarly journals Biallelic SORD pathogenic variants cause Chinese patients with distal hereditary motor neuropathy

2021 ◽  
Vol 6 (1) ◽  
Author(s):  
Hai-Lin Dong ◽  
Jia-Qi Li ◽  
Gong-Lu Liu ◽  
Hao Yu ◽  
Zhi-Ying Wu
Keyword(s):  
Ex Vivo ◽  
Protein Solubility ◽  
Chinese Patients ◽  
Hereditary Neuropathy ◽  
Motor Neuropathy ◽  
Causative Gene ◽  
Hereditary Motor ◽  
Functional Studies ◽  
Hereditary Motor Neuropathy

AbstractSorbitol dehydrogenase gene (SORD) has been identified as a novel causative gene of recessive forms of hereditary neuropathy, including Charcot–Marie–Tooth disease type 2 and distal hereditary motor neuropathy (dHMN). Our findings reveal two novel variants (c.404 A > G and c.908 + 1 G > C) and one known variant (c.757delG) within SORD in four Chinese dHMN families. Ex vivo cDNA polymerase chain reaction confirmed that c.908 + 1 G > C variant was associated with impaired splicing of the SORD transcript. In vitro cell functional studies showed that c.404 A > G variant resulted in aggregate formation of SORD and low protein solubility, confirming the pathogenicity of SORD variants. We have provided more evidence to establish SORD as a causative gene for dHMN.

In vitro study of the interaction between human gut microbiota and herbal extracts using willow bark extract as an example

Planta Medica ◽  
2016 ◽  
Vol 81 (S 01) ◽  
pp. S1-S381
Author(s):  
EM Pferschy-Wenzig ◽  
K Koskinen ◽  
C Moissl-Eichinger ◽  
R Bauer
Keyword(s):  
Gut Microbiota ◽  
In Vitro Study ◽  
Vitro Study ◽  
Bark Extract ◽  
Herbal Extracts ◽  
Human Gut ◽  
Human Gut Microbiota ◽  
Willow Bark

Evaluation of the Release Behavior of the Dexamethasone Embedded in Polycarbonate Polyurethane Membranes: An In Vitro Study

2003 ◽  
Vol 48 (1) ◽  
pp. 7 ◽  
Author(s):  
Dong Hyun Kim ◽  
Sung Gwon Kang ◽  
Sang Soo Park ◽  
Don Haeng Lee ◽  
Gyu Baek Lee ◽  
...  
Keyword(s):  
In Vitro Study ◽  
Vitro Study ◽  
Release Behavior ◽  
Polyurethane Membranes

Nivel de penetración y microfiltración de sellantes con y sin adhesivos de quinta y sexta generación en premolares. Estudio in vitro

2018 ◽  
Vol 8 (02) ◽  
Author(s):  
Claudia Gabriela Otazú Aldana
Keyword(s):  
In Vitro Study ◽  
Vitro Study ◽  
Sixth Generation

The level of penetration and microleakage of the sealants with or without adhesives of fifth and sixth generation. An in vitro study

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