|
Colorectal Carcinoma
|
0.300 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
|
Hermanski-Pudlak Syndrome
|
0.260 |
Biomarker
|
disease |
BEFREE |
HPS4 protein forms a BLOC-3 complex with HPS1, another <i>HPS</i> gene product, and the complex has been proposed to function as a guanine nucleotide exchange factor (GEF) for RAB32, a member of the Rab small GTPase family (Rab32), and Rab38 (Rab32/38-GEF) and also as a Rab9 effector.
|
30837268 |
2019 |
|
Hermanski-Pudlak Syndrome
|
0.260 |
Biomarker
|
disease |
BEFREE |
Combined deficiency of RAB32 and RAB38 in the mouse mimics Hermansky-Pudlak syndrome and critically impairs thrombosis.
|
31399401 |
2019 |
|
Hermanski-Pudlak Syndrome
|
0.260 |
GeneticVariation
|
disease |
BEFREE |
Within 2 d of embryo injection, we created and corrected chocolate missense mutations in the small GTPase RAB38; a regulator of intracellular vesicle trafficking and phenotypic model of Hermansky-Pudlak syndrome.
|
23426636 |
2013 |
|
Hermanski-Pudlak Syndrome
|
0.260 |
AlteredExpression
|
disease |
BEFREE |
RAB38 is expressed in melanocytes and it has been shown that a point mutation in the postulated GTP-binding domain of RAB38 is the gene responsible for human Hermansky-Pudlak syndrome.
|
24026199 |
2013 |
|
Hermanski-Pudlak Syndrome
|
0.260 |
Biomarker
|
disease |
RGD |
Altered lung surfactant system in a Rab38-deficient rat model of Hermansky-Pudlak syndrome.
|
19897744 |
2010 |
|
Hermanski-Pudlak Syndrome
|
0.260 |
Biomarker
|
disease |
BEFREE |
Altered lung surfactant system in a Rab38-deficient rat model of Hermansky-Pudlak syndrome.
|
19897744 |
2010 |
|
Hermanski-Pudlak Syndrome
|
0.260 |
GeneticVariation
|
disease |
BEFREE |
To characterize the ocular phenotype resulting from mutation of Rab38, a candidate gene for Hermansky-Pudlak syndrome.
|
17724166 |
2007 |
|
Albuminuria
|
0.200 |
Biomarker
|
phenotype |
RGD |
RF-2 gene modulates proteinuria and albuminuria independently of changes in glomerular permeability in the fawn-hooded hypertensive rat.
|
15758045 |
2005 |
|
Proteinuria
|
0.200 |
Biomarker
|
phenotype |
RGD |
RF-2 gene modulates proteinuria and albuminuria independently of changes in glomerular permeability in the fawn-hooded hypertensive rat.
|
15758045 |
2005 |
|
Frontotemporal dementia
|
0.110 |
GeneticVariation
|
disease |
GWASDB |
Frontotemporal dementia and its subtypes: a genome-wide association study.
|
24943344 |
2014 |
|
Frontotemporal dementia
|
0.110 |
GeneticVariation
|
disease |
BEFREE |
We also identified a potential novel locus at 11q14, encompassing RAB38/CTSC (the transcripts of which are related to lysosomal biology), for the behavioural FTD subtype for which joint analyses showed suggestive association for rs302668 (p=2·44 × 10(-7); 0·814 [0·71-0·92]).
|
24943344 |
2014 |
|
Frontotemporal dementia
|
0.110 |
GeneticVariation
|
disease |
GWASCAT |
Frontotemporal dementia and its subtypes: a genome-wide association study.
|
24943344 |
2014 |
|
Triiodothyronine measurement
|
0.100 |
GeneticVariation
|
phenotype |
GWASCAT |
Genome-wide association meta-analysis for total thyroid hormone levels in Croatian population.
|
30824882 |
2019 |
|
Malignant Neoplasms
|
0.030 |
AlteredExpression
|
group |
BEFREE |
Although the expression of <i>RAB38</i> is reportedly deregulated in several types of cancer, its role in tumor biology remains to be elucidated.
|
31452745 |
2019 |
|
Malignant Neoplasms
|
0.030 |
Biomarker
|
group |
BEFREE |
Together, these data establish a novel targeted proteomic method for interrogating the small GTPase proteome in human cells and identify epigenetic reactivation of RAB38 as a contributing factor to metastatic transformation in melanoma.<b>Significance:</b> A novel quantitative proteomic method leads to the discovery of RAB38 as a new driver of metastasis in melanoma.<i>Cancer Res; 78(18); 5431-45.©2018 AACR</i>.
|
30072397 |
2018 |
|
Malignant Neoplasms
|
0.030 |
AlteredExpression
|
group |
BEFREE |
Consistent with this lineage specificity, rab38 mRNA is expressed in 80-90% of melanoma (17 of 19), but rarely in nonmelanocytic malignancies (1 of 16).
|
10910072 |
2000 |
|
Neoplasm Metastasis
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
These results suggest that <i>RAB38</i> is an important prognostic factor in NSCLC, and may serve a critical role in NSCLC-associated tumor metastasis.
|
31452745 |
2019 |
|
Recurrent tumor
|
0.020 |
AlteredExpression
|
phenotype |
BEFREE |
The results revealed that the expression of <i>RAB38</i> in Group R and NR specimens was positively associated with tumor recurrence; a high expression level was also associated with poor survival rate in these patients.
|
31452745 |
2019 |
|
Recurrent tumor
|
0.020 |
AlteredExpression
|
phenotype |
BEFREE |
In this study, we found that RAB38 expressed in tumor tissues of patients with bladder cancer was linked to clinical features including pTNM stage and tumor recurrence, and positively correlated with the poor prognosis of bladder cancer.
|
30535713 |
2019 |
|
Primary malignant neoplasm
|
0.020 |
AlteredExpression
|
group |
BEFREE |
Although the expression of <i>RAB38</i> is reportedly deregulated in several types of cancer, its role in tumor biology remains to be elucidated.
|
31452745 |
2019 |
|
melanoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
Together, these data establish a novel targeted proteomic method for interrogating the small GTPase proteome in human cells and identify epigenetic reactivation of RAB38 as a contributing factor to metastatic transformation in melanoma.<b>Significance:</b> A novel quantitative proteomic method leads to the discovery of RAB38 as a new driver of metastasis in melanoma.<i></i>.
|
30072397 |
2018 |
|
Neoplasm Metastasis
|
0.020 |
Biomarker
|
phenotype |
BEFREE |
Together, these data establish a novel targeted proteomic method for interrogating the small GTPase proteome in human cells and identify epigenetic reactivation of RAB38 as a contributing factor to metastatic transformation in melanoma.<b>Significance:</b> A novel quantitative proteomic method leads to the discovery of RAB38 as a new driver of metastasis in melanoma.<i></i>.
|
30072397 |
2018 |
|
Primary malignant neoplasm
|
0.020 |
Biomarker
|
group |
BEFREE |
Together, these data establish a novel targeted proteomic method for interrogating the small GTPase proteome in human cells and identify epigenetic reactivation of RAB38 as a contributing factor to metastatic transformation in melanoma.<b>Significance:</b> A novel quantitative proteomic method leads to the discovery of RAB38 as a new driver of metastasis in melanoma.<i>Cancer Res; 78(18); 5431-45.©2018 AACR</i>.
|
30072397 |
2018 |
|
Albinism, Oculocutaneous
|
0.020 |
Biomarker
|
disease |
BEFREE |
Rab38(cht/cht) mice show ocular characteristics reminiscent of human oculocutaneous albinism, as well as iris and RPE thinning.
|
17724166 |
2007 |