|
ACRODYSOSTOSIS 2 WITH OR WITHOUT HORMONE RESISTANCE
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
Our results provide new information concerning the mechanism whereby the mutations identified in the ACRDYS2 dysregulate PDE4D activity, and give insights into rare diseases involving the cAMP signaling pathway.
|
29016851 |
2017 |
|
Acrodysostosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
The PRKAR1A gene and PDE4D gene have been found to be causative genes of acrodysostosis.
|
25075981 |
2014 |
|
Acrodysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Exome sequencing identifies PDE4D mutations in acrodysostosis.
|
22464252 |
2012 |
|
Acrodysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our study identified a novel de novo PDE4D mutation in acrodysostosis of Chinese origin that not only contributes a deeper appreciation of the phenotypic characteristics of patients with PDE4D mutations but also expands the spectrum of PDE4D mutations.
|
31520578 |
2019 |
|
Acrodysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Moreover, mutations in PRKAR1A and PDE4D genes have been recently detected in patients with acrodysostosis (ACRDYS), showing a skeletal and endocrinological phenotype partially overlapping with AHO/PHP.
|
26763073 |
2016 |
|
Acrodysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We and others have identified PDE4D or PRKAR1A variants in acrodysostosis; PDE4D variants have been reported in three cases of acroscyphodysplasia.
|
30006632 |
2018 |
|
Acrodysostosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
PDE4D encodes a cyclic AMP regulator and places PDE4D-related acrodysostosis within the same family of diseases as pseudohypoparathyroidism, pseudopseudohypoparathyroidism, PRKAR1A-related acrodysostosis and brachydactyly-mental retardation syndrome; all characterized by cognitive impairment and short distal extremities.
|
23033274 |
2013 |
|
Acrodysostosis
|
0.700 |
Biomarker
|
disease |
BEFREE |
Heterozygous mutations in cyclic AMP phosphodiesterase-4D (PDE4D) and protein kinase A (PKA) provide new insights into the molecular pathology of acrodysostosis.
|
25064455 |
2014 |
|
Acrodysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
These are termed, starting from PTH receptor inactivation mutation (Eiken and Blomstrand dysplasia) as iPPSD1, inactivating Gsα mutations (PHP-Ia, PHP-Ic and pPHP) as iPPSD2, loss of methylation of GNAS DMRs (PHP-Ib) as iPPSD3, PRKAR1A mutations (acrodysostosis type 1) as iPPSD4, PDE4D mutations (acrodysostosis type 2) as iPPSD5 and PDE3A mutations (autosomal dominant hypertension with brachydactyly) as iPPSD6. iPPSDx is reserved for unknown molecular defects and iPPSDn+1 for new molecular defects which are yet to be described.
|
29280743 |
2017 |
|
Acrodysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Screening of PDE4D identified heterozygous mutations (c.568T>G [p.Ser190Ala] and c.1759A>C [p.Thr587Pro]) in two additional acrodysostosis cases.
|
22464250 |
2012 |
|
Acrodysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Moreover, mutations in PRKAR1A and PDE4D, which encode proteins crucial for Gsα-cAMP-mediated signalling, have been found in patients with acrodysostosis.
|
27109785 |
2016 |
|
Acrodysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Type 2 acrodysostosis (ACRDYS2), a rare developmental skeletal dysplasia characterized by short stature, severe brachydactyly and facial dysostosis, is caused by mutations in the phosphodiesterase (PDE) 4D (PDE4D) gene.
|
29016851 |
2017 |
|
Acrodysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In addition, our results expand the spectrum of PDE4D mutations underlying acrodysostosis and indicate that, in contrast to previous reports, patients with PDE4D mutations may have significant hormone resistance with consequent endocrine abnormalities.
|
24203977 |
2014 |
|
Acrodysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We report on a rare multigenerational familial case of acrodysostosis type 2 due to a novel autosomal dominantly inherited PDE4D mutation.
|
28515031 |
2017 |
|
Acrodysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The underlying molecular mechanism of acroscyphodysplasia has not yet been elucidated, although scypho-deformity of the knee has been reported in three patients with acrodysostosis due to a mutation in the PDE4D gene.
|
25044890 |
2014 |
|
Acrodysostosis
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
PRKAR1A and PDE4D mutations cause acrodysostosis but two distinct syndromes with or without GPCR-signaling hormone resistance.
|
23043190 |
2012 |
|
Asthma
|
0.470 |
Biomarker
|
disease |
BEFREE |
An important genetic component to asthma susceptibility has long been recognized, most recently through the identification of several genes (e.g., ORMDL3, PDE4D, HLA-DQ, and TLE4) via genome-wide association studies.
|
23181788 |
2012 |
|
Asthma
|
0.470 |
Biomarker
|
disease |
BEFREE |
Gene-based analyses that included all available SNPs in each gene found associations (P < .05) with both phenotypes for several genes: neuronal growth regulator 1 (NEGR1); roundabout, axon guidance receptor, homolog 1 (ROBO1); diacylglycerol kinase, gamma (DGKG); Fas apoptotic inhibitory molecule 2 (FAIM2); fat mass and obesity associated (FTO); and carbohydrate (N-acetylgalactosamine 4-0) sulfotransferase 8 (CHST8) among the BMI GWAS genes; interleukin 1 receptor-like 1 / interleukin 18 receptor 1 (IL1RL1/IL18R1), dipeptidyl-peptidase 10 (DPP10), phosphodiesterase 4D (PDE4D), V-myb myeloblastosis viral oncogene homolog (MYB), PDE10A, IL33, and especially protein tyrosine phosphatase, receptor type D (PTPRD) among the asthma GWAS genes; and protein kinase C, alpha (PRKCA) among the BMI and asthma candidate genes.
|
20816195 |
2010 |
|
Asthma
|
0.470 |
Biomarker
|
disease |
BEFREE |
Long-acting β(2)-agonists are now contraindicated as monotherapy for asthma, and increased PDE4D has been speculated to contribute to this phenomenon.
|
22101762 |
2012 |
|
Asthma
|
0.470 |
GeneticVariation
|
disease |
BEFREE |
Our rank-based genome-wide analysis revealed for the first time an association of RYR2 variants with asthma and replicated previously discovered PDE4D asthma gene across human populations.
|
23829686 |
2013 |
|
Asthma
|
0.470 |
Biomarker
|
disease |
BEFREE |
The phosphodiesterase 4D, cAMP-specific (phosphodiesterase E3 dunce homolog, Drosophila) gene (PDE4D) is a regulator of airway smooth-muscle contractility, and PDE4 inhibitors have been developed as medications for asthma.
|
19426955 |
2009 |
|
Asthma
|
0.470 |
GeneticVariation
|
disease |
BEFREE |
Two SNPs, rs1544791 (PDE4D) and rs3806932 (TSLP), were more strongly associated with the high smoking history subgroup than with asthma or any other subgroups.
|
27058054 |
2016 |
|
Asthma
|
0.470 |
GeneticVariation
|
disease |
BEFREE |
We sought to search for new variants associated with asthma and attempt to replicate the association with four loci reported previously (ORMDL3, PDE4D, DENND1B and IL1RL1).
|
21150878 |
2011 |
|
Schizophrenia
|
0.420 |
GeneticVariation
|
disease |
BEFREE |
We identified 4570 SNPs across the PDE4D gene, with 380 associated to schizophrenia (p ≤ 0.05).
|
31138891 |
2019 |
|
Schizophrenia
|
0.420 |
GeneticVariation
|
disease |
BEFREE |
Greater significance was observed with allelic haplotypes of PDE4D (p = .00084), PDE4B (p = .0022 and p = .029), and NDEL1 (p = .0027) that increased or decreased schizophrenia susceptibility.
|
19251251 |
2009 |