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rs1426039367
|
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Amyotrophic Lateral Sclerosis
|
|
0.040 |
GeneticVariation
|
BEFREE |
In the SOD1(G93A) mutant rat model of amyotrophic lateral sclerosis (ALS), neuronal death and rapid paralysis progression are associated with the emergence of activated aberrant glial cells that proliferate in the degenerating spinal cord.
|
27400786 |
2016 |
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rs1426039367
|
|
Amyotrophic Lateral Sclerosis
|
|
0.040 |
GeneticVariation
|
BEFREE |
In the SOD1 Gly93Ala rat model of amyotrophic lateral sclerosis, the antisense oligonucleotide ISIS 333611 delivered to CSF decreased SOD1 mRNA and protein concentrations in spinal cord tissue and prolonged survival.
|
23541756 |
2013 |
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rs1426039367
|
|
Amyotrophic Lateral Sclerosis
|
|
0.040 |
GeneticVariation
|
BEFREE |
To comparatively evaluate the therapeutic potentials of human bone marrow-derived mesodermal stromal cells (hMSCs) and umbilical cord blood cells (hUBCs) in ALS, we transplanted hMSCs and hUBCs and their neuroectodermal derivatives (hMSC-NSCs and hUBC-NSCs) into the ALS mouse model over-expressing the G93A mutant of the human SOD1 gene.
|
17510731 |
2007 |
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rs1426039367
|
|
Amyotrophic Lateral Sclerosis
|
|
0.040 |
GeneticVariation
|
BEFREE |
We report here that rats that express a human SOD1 transgene with two different ALS-associated mutations (G93A and H46R) develop striking motor neuron degeneration and paralysis.
|
11717358 |
2001 |
|
rs1426039367
|
|
Motor neuron atrophy
|
|
0.020 |
GeneticVariation
|
BEFREE |
We report here that rats that express a human SOD1 transgene with two different ALS-associated mutations (G93A and H46R) develop striking motor neuron degeneration and paralysis.
|
16382787 |
2005 |
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rs1426039367
|
|
Motor neuron atrophy
|
|
0.020 |
GeneticVariation
|
BEFREE |
We report here that rats that express a human SOD1 transgene with two different ALS-associated mutations (G93A and H46R) develop striking motor neuron degeneration and paralysis.
|
11717358 |
2001 |
|
rs25882
|
|
Chronic Obstructive Airway Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
There are genetic polymorphisms related to susceptibility to COPD (rs1818879/A in IL6), as well as to the risk of greater severity of the disease (rs25882/T in CSF2).
|
30296713 |
2018 |
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rs25882
|
|
Asthma
|
|
0.010 |
GeneticVariation
|
BEFREE |
In two large study populations of children, the German part of the International Study of Asthma and Allergy in Childhood (ISAAC II) and the German Multicentre Atopy Study (MAS), 3099 and 824 children, seven polymorphisms previously associated with the development of atopic diseases were genotyped: two in and around the GM-CSF gene (Ile117Thr and T3085G), one in IL-3 (Pro27Ser), in IL-5 (C-746T), and in the IL-5 high affinity receptor chain IL-5R (G-80A) and two in the common receptor chain CSFR2b for IL-3, IL-5, and GM-CSF (Asp312Asn and Glu249Gln).
|
17362254 |
2007 |
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rs747762300
|
|
Major depression, single episode
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|
0.010 |
GeneticVariation
|
BEFREE |
343 subjects (Caucasian, African-American, Hispanic) presenting with a Major Depressive Episode were genotyped for polymorphisms A218C in intron 7 and A-6526G in the promoter region of TPH1, and monitored for suicide attempts for up to one year.
|
18977032 |
2009 |
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rs753438778
|
|
Creutzfeldt-Jakob disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Three clinical phenotypes were seen: rapidly progressive Creutzfeldt-Jakob disease (CJD), which included 100% of E200K cases, 70% of M232R, and 21% of P102L; slowly progressive CJD, which included 100% of V180I and 30% of M232R; and Gerstmann-Sträussler-Scheinker disease, which included 100% of P105L and 79% of P102L.
|
23555862 |
2013 |
|
rs753438778
|
|
Gerstmann-Straussler-Scheinker Disease
|
|
0.010 |
GeneticVariation
|
BEFREE |
Three clinical phenotypes were seen: rapidly progressive Creutzfeldt-Jakob disease (CJD), which included 100% of E200K cases, 70% of M232R, and 21% of P102L; slowly progressive CJD, which included 100% of V180I and 30% of M232R; and Gerstmann-Sträussler-Scheinker disease, which included 100% of P105L and 79% of P102L.
|
23555862 |
2013 |