|
Aarskog syndrome
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
A mutation in the pleckstrin homology (PH) domain of the FGD1 gene in an Italian family with faciogenital dysplasia (Aarskog-Scott syndrome).
|
10930571 |
2000 |
|
Aarskog syndrome
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the FYVE, rhogef and pleckstrin homology domain-containing protein 1 (<i>FGD1</i>) gene, located within the Xp11.21 region, are responsible for the occurrence of ASS.
|
28587322 |
2017 |
|
Adenomatous Polyposis Coli
|
0.010 |
Biomarker
|
disease |
BEFREE |
APC interacts with the Rac1-specific guanine-nucleotide exchange factor (GEF) Asef, which contains an APC-binding region (ABR) in addition to Dbl homology (DH), Pleckstrin (PH) and Src homology 3 (SH3) domains.
|
17599059 |
2007 |
|
Adult Glioblastoma
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Mislocalization of the E3 ligase, β-transducin repeat-containing protein 1 (β-TrCP1), in glioblastoma uncouples negative feedback between the pleckstrin homology domain leucine-rich repeat protein phosphatase 1 (PHLPP1) and Akt.
|
21454620 |
2011 |
|
Adult T-Cell Lymphoma/Leukemia
|
0.010 |
AlteredExpression
|
disease |
BEFREE |
The mechanism of p47 degradation is primarily dependent on activation of lysosomal-autophagy and the autophagy is activated in most of the HTLV-infected and ATLL cells, suggesting that the p47 degradation may be a first key molecular event during HTLV-1 infection to T-cells as a connector of two important signaling pathways, NF-κB and autophagy.
|
30837480 |
2019 |
|
Age related macular degeneration
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Polymorphisms rs4146894:G>A of Pleckstrin Homology Domain-containing Protein Family A member 1 (PLEKHA1) gene, rs10490924:G>T at LOC387715, and rs11200638:G>A of HTRA1 (HTRA serine peptidase 1) gene were analyzed in AMD cases (n=118, age=72.3+/-3.8 years old) and healthy controls (n=116, age=72.0+/-3.8 years old).
|
18079691 |
2007 |
|
Alzheimer's Disease
|
0.010 |
Biomarker
|
disease |
BEFREE |
Here, we show that the rab5 effector APPL1 (adaptor protein containing pleckstrin homology domain, phosphotyrosine binding domain and leucine zipper motif) mediates rab5 overactivation in Down syndrome (DS) and AD, which is caused by elevated levels of the β-cleaved carboxy-terminal fragment of APP (βCTF).
|
26194181 |
2016 |
|
Apnea+hypopnea
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Using a panel of 46,449 polymorphisms from roughly 2,100 candidate genes on a customized Illumina iSelect chip, we tested for association with the apnea hypopnea index (AHI) as well as moderate to severe OSA (AHI≥15) in 3,551 participants of the Cleveland Family Study and two cohorts participating in the Sleep Heart Health Study.Among 647 African-Americans, rs11126184 in the pleckstrin (PLEK) gene was associated with OSA while rs7030789 in the lysophosphatidic acid receptor 1 (LPAR1) gene was associated with AHI using a chip-wide significance threshold of p-value<2×10(-6).
|
23155414 |
2012 |
|
Asthma
|
0.110 |
AlteredExpression
|
disease |
BEFREE |
Mice lacking functional NADPH oxidases due to knockout of p47 and mice with epithelial-targeted transgenic expression of a CaMKII inhibitory peptide or wild-type mice treated with inhaled KN-93, an experimental small-molecule CaMKII antagonist, were protected against increases in ICl, MUC5AC expression, and airway hyperreactivity to inhaled methacholine.
|
23884469 |
2013 |
|
Asthma
|
0.110 |
GeneticVariation
|
disease |
GWASDB |
Association between ORMDL3, IL1RL1 and a deletion on chromosome 17q21 with asthma risk in Australia.
|
21150878 |
2011 |
|
Autoimmune Diseases
|
0.100 |
GeneticVariation
|
group |
GWASDB |
Meta-analysis of genome-wide association studies in celiac disease and rheumatoid arthritis identifies fourteen non-HLA shared loci.
|
21383967 |
2011 |
|
Breast Carcinoma
|
0.020 |
Biomarker
|
disease |
BEFREE |
Novel inhibitors induce large conformational changes of GAB1 pleckstrin homology domain and kill breast cancer cells.
|
25569504 |
2015 |
|
Breast Carcinoma
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
We have performed functional analysis of six non-hotspot AKT1 pleckstrin homology domain mutants identified in recent large-scale breast cancer sequencing studies.
|
23237847 |
2013 |
|
Carcinogenesis
|
0.040 |
Biomarker
|
phenotype |
BEFREE |
Aberrant regulation of the translation initiation is known to contribute to tumorigenesis. eIF3 plays an important role in translation initiation. eIF3f is the p47 subunit of the eIF3 complex whose function in cancer is not clear.
|
18381585 |
2008 |
|
Carcinogenesis
|
0.040 |
Biomarker
|
phenotype |
BEFREE |
As a multifunctional adaptor protein, APPL1 (adaptor protein containing pleckstrin homology domain, phosphotyrosine binding domain and a leucine zipper motif 1) is overexpressed in many cancers, and has been implicated in tumorigenesis and tumor progression.
|
28902365 |
2017 |
|
Carcinogenesis
|
0.040 |
Biomarker
|
phenotype |
BEFREE |
Aberrant regulation of the translation initiation is known to contribute to tumorigenesis. eIF3 plays an important role in translation initiation. eIF3f is the p47 subunit of the eIF3 complex whose function in cancer is not clear.
|
17918192 |
2008 |
|
Carcinogenesis
|
0.040 |
AlteredExpression
|
phenotype |
BEFREE |
Amino-terminal p53 mutations lead to expression of apoptosis proficient p47 and prognosticate better survival, but predispose to tumorigenesis.
|
26578795 |
2015 |
|
Carcinoma, Transitional Cell
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
AKT1 E17 K pleckstrin homology domain mutation in urothelial carcinoma.
|
19389506 |
2009 |
|
Celiac Disease
|
0.100 |
GeneticVariation
|
disease |
GWASCAT |
Multiple common variants for celiac disease influencing immune gene expression.
|
20190752 |
2010 |
|
Celiac Disease
|
0.100 |
GeneticVariation
|
disease |
GWASDB |
Multiple common variants for celiac disease influencing immune gene expression.
|
20190752 |
2010 |
|
Centronuclear myopathy
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Dynamin 2 (DNM2)-related dominant centronuclear myopathy is usually a mild disorder, but more severe variants have been associated with mutations affecting the pleckstrin homology (PH) domain of the protein, mainly implicated in different forms of Charcot-Marie-Tooth Disease (CMT).
|
19932620 |
2010 |
|
Centronuclear myopathy
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Centronuclear myopathy with neonatal onset caused by a DNM2 mutation in the C-terminal part of the pleckstrin homology domain may have a favorable prognosis and follow a course similar to adult-onset centronuclear myopathy.
|
19932619 |
2010 |
|
Charcot-Marie-Tooth Disease
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Mutations in GDAP1, YARS, and the pleckstrin homology domain of dynamin 2 lead to an intermediate form of CMT that is characterized by moderately reduced nerve conduction velocity consistent with minor myelin deficits.
|
16856148 |
2006 |
|
Charcot-Marie-Tooth Disease
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Dynamin 2 (DNM2)-related dominant centronuclear myopathy is usually a mild disorder, but more severe variants have been associated with mutations affecting the pleckstrin homology (PH) domain of the protein, mainly implicated in different forms of Charcot-Marie-Tooth Disease (CMT).
|
19932620 |
2010 |
|
Charcot-Marie-Tooth Disease
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
We performed a mutational screening of DNM2 exons 13 through 16 encoding the pleckstrin homology domain in a large series of CMT patients with a broad range of nerve conduction velocities and without mutations in more common genes.
|
17636067 |
2007 |