CATARACT 36
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
RNA granule component TDRD7 gene polymorphisms in a Han Chinese population with age-related cataract.
|
24435515 |
2014 |
CATARACT 36
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
CATARACT 36
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
CATARACT 36
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
CATARACT 36
|
0.600 |
Biomarker
|
disease |
CTD_human |
|
|
|
Cataract
|
0.410 |
Biomarker
|
disease |
BEFREE |
We describe two human cases of pediatric cataract with loss-of-function mutations in TDRD7 and demonstrate that Tdrd7 nullizygosity in mouse causes cataracts, as well as glaucoma and an arrest in spermatogenesis.
|
21436445 |
2011 |
Cataract
|
0.410 |
Biomarker
|
disease |
CTD_human |
We describe two human cases of pediatric cataract with loss-of-function mutations in TDRD7 and demonstrate that Tdrd7 nullizygosity in mouse causes cataracts, as well as glaucoma and an arrest in spermatogenesis.
|
21436445 |
2011 |
Cataract
|
0.410 |
Biomarker
|
disease |
HPO |
|
|
|
Congenital cataract
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans.
|
31048812 |
2019 |
Congenital cataract
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
Mice with Tdrd7 gene disrupted at a similar position precisely replicated the human syndrome.ConclusionWe identified TDRD7 causing CC as a new pathogenic gene for male azoospermia in human, with an autosomal recessive mode of inheritance.GENETICS in MEDICINE advance online publication, 24 August 2017; doi:10.1038/gim.2017.130.
|
28837160 |
2017 |
Congenital cataract
|
0.320 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
RNA granule component TDRD7 gene polymorphisms in a Han Chinese population with age-related cataract.
|
24435515 |
2014 |
Glaucoma
|
0.310 |
Biomarker
|
disease |
CTD_human |
We describe two human cases of pediatric cataract with loss-of-function mutations in TDRD7 and demonstrate that Tdrd7 nullizygosity in mouse causes cataracts, as well as glaucoma and an arrest in spermatogenesis.
|
21436445 |
2011 |
Glaucoma
|
0.310 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.
|
21436445 |
2011 |
Influenza
|
0.300 |
Biomarker
|
disease |
CTD_human |
A host transcriptional signature for presymptomatic detection of infection in humans exposed to influenza H1N1 or H3N2.
|
23326326 |
2013 |
Male infertility
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.
|
21436445 |
2011 |
Pseudoaphakia
|
0.300 |
Biomarker
|
disease |
CTD_human |
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.
|
21436445 |
2011 |
Subfertility, Male
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.
|
21436445 |
2011 |
Male sterility
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.
|
21436445 |
2011 |
Lens Opacities
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma.
|
21436445 |
2011 |
Azoospermia
|
0.020 |
Biomarker
|
disease |
BEFREE |
Mutation screening of TDRD7 was performed in another similar consanguineous family and 176 patients with azoospermia or CC alone and 520 healthy controls.
|
31048812 |
2019 |
Azoospermia, Nonobstructive
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans.
|
31048812 |
2019 |
Azoospermia
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Mice with Tdrd7 gene disrupted at a similar position precisely replicated the human syndrome.ConclusionWe identified TDRD7 causing CC as a new pathogenic gene for male azoospermia in human, with an autosomal recessive mode of inheritance.GENETICS in MEDICINE advance online publication, 24 August 2017; doi:10.1038/gim.2017.130.
|
28837160 |
2017 |
Azoospermia, Nonobstructive
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Loss-of-function mutations in TDRD7 lead to a rare novel syndrome combining congenital cataract and nonobstructive azoospermia in humans.
|
28837160 |
2017 |
Neoplasms
|
0.010 |
Biomarker
|
group |
BEFREE |
Although the highest tumor uptake was found for <sup>68</sup>Ga-FSC-(RGD)<sub>3</sub> and <sup>68</sup>Ga-THP-(RGD)<sub>3</sub> in the SK-RC-52 and FaDu models, respectively, selection of the optimal tracer for specific diagnostic applications also depends on tumor-to-blood ratio and uptake in normal tissues; these factors should therefore also be considered.
|
29626124 |
2018 |
Respiratory syncytial virus (RSV) infection in conditions classified elsewhere and of unspecified site
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The antiviral activity of TDRD7 against SeV, human parainfluenza virus 3 and respiratory syncytial virus was confirmed by its genetic ablation or ectopic expression in several types of mouse and human cells.
|
29381763 |
2018 |