Paroxysmal Nonkinesigenic Dyskinesia 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
No mutations were detected in patients with non-kinesigenic or exertion-induced dyskinesia, and none in other candidate genes including PNKD1 (MR-1) and SLC2A1 (GLUT1).
|
22752065 |
2013 |
Paroxysmal Nonkinesigenic Dyskinesia 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
The gene for paroxysmal non-kinesigenic dyskinesia encodes an enzyme in a stress response pathway.
|
15496428 |
2004 |
Paroxysmal Nonkinesigenic Dyskinesia 1
|
1.000 |
Biomarker
|
disease |
MGD |
|
|
|
Paroxysmal Nonkinesigenic Dyskinesia 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Taking into account that previous haplotype analyses did not reveal evidence for common founders among several PNKD families, our present findings strengthen three implications: (1) autosomal dominant PNKD seems to be a homogenous disorder, for which the MR-1 gene is the major disease gene; (2) mainly two recurrent MR-1 missense mutations (57% V7, 43% V9) account for the genetic variance of familial PNKD; (3) it supports current evidence that some of the recurrent MR-1 mutations may have arisen independently by de novo mutation at functionally convergent key sites of the brain-specific MR-1L isoform.
|
16632198 |
2006 |
Paroxysmal Nonkinesigenic Dyskinesia 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
These findings provide compelling evidence that MR-1 might be a diagnostic marker and therapeutic target for solid tumours, myelogenous leukaemia and PNKD.
|
29103325 |
2018 |
Paroxysmal Nonkinesigenic Dyskinesia 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The function of MR1 is unknown, but the 2 mutations identified in the 4 families with PNKD studied to date are predicted to disrupt the amino terminal alpha-helix suggesting that this region of the gene is critical for proper gene function under stressful conditions.
|
15824259 |
2005 |
Paroxysmal Nonkinesigenic Dyskinesia 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
The function of MR1 is unknown, but the 2 mutations identified in the 4 families with PNKD studied to date are predicted to disrupt the amino terminal alpha-helix suggesting that this region of the gene is critical for proper gene function under stressful conditions.
|
15824259 |
2005 |
Paroxysmal Nonkinesigenic Dyskinesia 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Sequencing the whole coding region of PNKD/MR-1 gene identified a heterozygous c.20 C>T (p.Ala7Val) mutation which was clearly segregated in the five affected patients.
|
22967746 |
2012 |
Paroxysmal Nonkinesigenic Dyskinesia 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Genetic data localized the underlying mutation to the FPD1 locus (familial paroxysmal dyskinesia type 1) on chromosome 2q and support locus homogeneity for the Mount-Reback syndrome.
|
9371903 |
1997 |
Paroxysmal Nonkinesigenic Dyskinesia 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
Paroxysmal Nonkinesigenic Dyskinesia 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
A case of familial paroxysmal nonkinesigenic dyskinesia due to mutation of the PNKD gene in Chinese Mainland.
|
25107857 |
2015 |
Paroxysmal Nonkinesigenic Dyskinesia 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The function of MR1 is unknown, but the 2 mutations identified in the 4 families with PNKD studied to date are predicted to disrupt the amino terminal alpha-helix suggesting that this region of the gene is critical for proper gene function under stressful conditions.
|
15824259 |
2005 |
Paroxysmal Nonkinesigenic Dyskinesia 1
|
1.000 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
The function of MR1 is unknown, but the 2 mutations identified in the 4 families with PNKD studied to date are predicted to disrupt the amino terminal alpha-helix suggesting that this region of the gene is critical for proper gene function under stressful conditions.
|
15824259 |
2005 |
Paroxysmal Nonkinesigenic Dyskinesia 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
The authors describe a Canadian PNKD family who does not have mutations in the MR-1 gene and links to a separate locus at 2q31.
|
16717228 |
2006 |
Paroxysmal Nonkinesigenic Dyskinesia 1
|
1.000 |
Biomarker
|
disease |
CTD_human |
Mutations in PNKD causing paroxysmal dyskinesia alters protein cleavage and stability.
|
21487022 |
2011 |
Paroxysmal Nonkinesigenic Dyskinesia 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
This Serbian family further demonstrates that recurrent MR-1 mutations are associated with PNKD worldwide, which will affect genetic testing.
|
16972263 |
2006 |
Paroxysmal Nonkinesigenic Dyskinesia 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
This Serbian family further demonstrates that recurrent MR-1 mutations are associated with PNKD worldwide, which will affect genetic testing.
|
16972263 |
2006 |
Paroxysmal Nonkinesigenic Dyskinesia 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Other "PNKD-like" families exist, but atypical features suggests that these subjects are clinically distinct from PNKD and do not have MR-1 mutations.
|
17515540 |
2007 |
Paroxysmal Nonkinesigenic Dyskinesia 1
|
1.000 |
GeneticVariation
|
disease |
BEFREE |
Recently, mutations in the myofibrillogenesis regulator 1 gene (MR-1) have been identified in 10 unrelated PNKD kindreds.
|
16717228 |
2006 |
Paroxysmal Nonkinesigenic Dyskinesia 1
|
1.000 |
CausalMutation
|
disease |
CLINVAR |
Although MR-1 gene function is unknown, the precedence of ion channel disturbance in other episodic neurologic disorders suggests that the pathophysiologic features of PDC also involve abnormal ion localization.
|
15262732 |
2004 |
Paroxysmal Nonkinesigenic Dyskinesia 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Although MR-1 gene function is unknown, the precedence of ion channel disturbance in other episodic neurologic disorders suggests that the pathophysiologic features of PDC also involve abnormal ion localization.
|
15262732 |
2004 |
Paroxysmal Nonkinesigenic Dyskinesia 1
|
1.000 |
Biomarker
|
disease |
BEFREE |
Although MR-1 gene function is unknown, the precedence of ion channel disturbance in other episodic neurologic disorders suggests that the pathophysiologic features of PDC also involve abnormal ion localization.
|
15262732 |
2004 |
Paroxysmal Nonkinesigenic Dyskinesia 1
|
1.000 |
GeneticVariation
|
disease |
UNIPROT |
Taking into account that previous haplotype analyses did not reveal evidence for common founders among several PNKD families, our present findings strengthen three implications: (1) autosomal dominant PNKD seems to be a homogenous disorder, for which the MR-1 gene is the major disease gene; (2) mainly two recurrent MR-1 missense mutations (57% V7, 43% V9) account for the genetic variance of familial PNKD; (3) it supports current evidence that some of the recurrent MR-1 mutations may have arisen independently by de novo mutation at functionally convergent key sites of the brain-specific MR-1L isoform.
|
16632198 |
2006 |
Paroxysmal nonkinesigenic dyskinesia
|
0.690 |
GeneticVariation
|
disease |
BEFREE |
Sequencing the whole coding region of PNKD/MR-1 gene identified a heterozygous c.20 C>T (p.Ala7Val) mutation which was clearly segregated in the five affected patients.
|
22967746 |
2012 |
Paroxysmal nonkinesigenic dyskinesia
|
0.690 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|