Hereditary Sensory and Autonomic Neuropathies
|
0.030 |
GeneticVariation
|
group |
BEFREE |
Mutations in FAM134B associated with hereditary sensory and autonomic neuropathy type IIB (HSAN IIB).
|
29226326 |
2018 |
Hereditary Sensory and Autonomic Neuropathies
|
0.030 |
GeneticVariation
|
group |
BEFREE |
We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).
|
24727570 |
2014 |
Hereditary Sensory and Autonomic Neuropathies
|
0.030 |
GeneticVariation
|
group |
BEFREE |
Hereditary sensory and autonomic neuropathies (HSN/HSAN) are clinically and genetically heterogeneous disorders of the peripheral nervous system that predominantly affect the sensory and autonomic neurons.
|
23931820 |
2013 |
Congenital Pain Insensitivity
|
0.010 |
Biomarker
|
disease |
BEFREE |
The condition is probably genetically heterogeneous, and other congenital insensitivity to pain and HSAN genes such as SCN11A may be implicated.
|
29949203 |
2018 |
Separation Anxiety Disorder
|
0.010 |
Biomarker
|
disease |
BEFREE |
Cohesion deficiency was induced by knockdown of the acetyltransferase separation anxiety (San)/Naa50, a cohesin complex stabilizer [9-12].
|
30122528 |
2018 |
Acute myocardial infarction
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Detection of Acute Myocardial Infarction in a Pig Model Using the SAN-Atrial-AVN-His (SAAH) Electrocardiogram (ECG), Model PHS-A10, an Automated and Integrated Signals Recognition System.
|
29502127 |
2018 |
Indifference to Pain, Congenital, Autosomal Recessive
|
0.010 |
Biomarker
|
disease |
BEFREE |
The condition is probably genetically heterogeneous, and other congenital insensitivity to pain and HSAN genes such as SCN11A may be implicated.
|
29949203 |
2018 |
Anhidrosis
|
0.010 |
Biomarker
|
disease |
BEFREE |
Hereditary sensory autonomic neuropathy type IV (HSAN-IV) is a rare autosomal recessive disorder that usually begins in infancy and is characterized by anhidrosis, insensitivity to noxious stimuli leading to self-mutilating behavior, and intellectual disability.
|
28328124 |
2017 |
Non-Small Cell Lung Carcinoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
However, the effects of SAN on NSCLC proliferation, invasion, and migration and the mechanisms remain to be clarified.
|
28296008 |
2017 |
Intellectual Disability
|
0.010 |
Biomarker
|
group |
BEFREE |
Hereditary sensory autonomic neuropathy type IV (HSAN-IV) is a rare autosomal recessive disorder that usually begins in infancy and is characterized by anhidrosis, insensitivity to noxious stimuli leading to self-mutilating behavior, and intellectual disability.
|
28328124 |
2017 |
Ogden syndrome
|
0.010 |
Biomarker
|
disease |
BEFREE |
N-Terminal acetylome analyses revealed a decreased acetylation of a subset of NatA and NatE substrates in Ogden syndrome cells, supporting the genetic findings and our hypothesis regarding reduced Nt-acetylation of a subset of NatA/NatE-type substrates as one etiology for Ogden syndrome.
|
25489052 |
2015 |
Presenile dementia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).
|
24727570 |
2014 |
Narcolepsy
|
0.010 |
Biomarker
|
disease |
BEFREE |
Narcolepsy is a common phenotype in HSAN IE and ADCA-DN.
|
24727570 |
2014 |
Polyneuropathy
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
Other common symptoms and features observed in our cases, involving the central and peripheral nervous system, include deafness, optic neuropathy-previously not reported in HSAN IE-large and small fibres polyneuropathy and lower limbs oedema.
|
24727570 |
2014 |
Dementia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We report on the extensive phenotypic characterization of five Italian patients from four unrelated families carrying dominant heterozygous DNMT1 mutations linked to two distinct autosomal dominant diseases: hereditary sensory and autonomic neuropathy with dementia and hearing loss type IE (HSAN IE) and autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN).
|
24727570 |
2014 |
CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT
|
0.010 |
Biomarker
|
disease |
BEFREE |
HSAN IE and ADCA-DN are two extreme phenotypic manifestations of a DNMT1 methylopathy.
|
24727570 |
2014 |
Peripheral Nervous System Diseases
|
0.010 |
GeneticVariation
|
group |
BEFREE |
Hereditary sensory and autonomic neuropathies (HSN/HSAN) are clinically and genetically heterogeneous disorders of the peripheral nervous system that predominantly affect the sensory and autonomic neurons.
|
23931820 |
2013 |
Sinus Node Dysfunction (disorder)
|
0.010 |
Biomarker
|
disease |
BEFREE |
In wild-type mice, Ang II infusion caused sinoatrial nodal (SAN) cell oxidation by activating NADPH oxidase, leading to increased ox-CaMKII, SAN cell apoptosis, and SND. p47-/- mice lacking functional NADPH oxidase and mice with myocardial or SAN-targeted CaMKII inhibition were highly resistant to SAN apoptosis and SND, suggesting that ox-CaMKII-triggered SAN cell death contributed to SND.
|
21785215 |
2011 |
Neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
In the c-myc transgenic mice, which is a model of inducible hepatocarcinoma, we found that hNAT5/hNAT3 was upregulated when the tumour was induced.
|
18794801 |
2008 |
Neuroblastoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
The cells have the cell surface phenotype typical of N-myc amplified NB (HLA-A,B,C negative and HSAN 1.2 positive), and similar to other NB cell lines, N-myc RNA and protein are expressed.
|
2284101 |
1990 |
Central neuroblastoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
The cells have the cell surface phenotype typical of N-myc amplified NB (HLA-A,B,C negative and HSAN 1.2 positive), and similar to other NB cell lines, N-myc RNA and protein are expressed.
|
2284101 |
1990 |
Childhood Neuroblastoma
|
0.010 |
Biomarker
|
disease |
BEFREE |
The cells have the cell surface phenotype typical of N-myc amplified NB (HLA-A,B,C negative and HSAN 1.2 positive), and similar to other NB cell lines, N-myc RNA and protein are expressed.
|
2284101 |
1990 |
Color blindness
|
0.010 |
Biomarker
|
disease |
BEFREE |
No correspondence was found between these data and linguistic affinities of eight Bantu-speaking groups, nor between the frequencies of colorblindness and previously estimated proportions of San genes in these eight populations; on the other hand, a north-south cline of increasing frequences of mutants and of dichromacies among the Bantu-speakers was noted.
|
6970528 |
1980 |