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A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures
A naturally occurring mutation of the mass1 (monogenic audiogenic seizure‐susceptible) gene recently has been reported in the Frings mouse strain, which is prone to audiogenic seizures. The humanExpand
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Significant evidence for linkage of febrile seizures to chromosome 5q14-q15.
Febrile seizures (FSs) represent the most common form of childhood seizure. In the Japanese population, the incidence rate is as high as 7%. It has been recognized that there is a significant geneticExpand
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A quantitative study of the progress of myelination in the rat central nervous system, using the immunohistochemical method for proteolipid protein.
The temporal changes in intensity of myelination of the nervous pathways in 0 to 42-day-old Wistar rats were quantitatively analyzed by immunohistochemistry with anti-proteolipid protein and comparedExpand
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Insertion/deletion coding polymorphisms in hHAVcr-1 are not associated with atopic asthma in the Japanese population
Hepatitis A virus receptor (HAVcr-1) and T-cell immunoglobulin- and mucin-domain-containing molecule (TIM)-3 were recently implicated as asthma susceptibility genes in the study of congenic mice. InExpand
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Dopamine dysregulation in a mouse model of paroxysmal nonkinesigenic dyskinesia.
Paroxysmal nonkinesigenic dyskinesia (PNKD) is an autosomal dominant episodic movement disorder. Patients have episodes that last 1 to 4 hours and are precipitated by alcohol, coffee, and stress.Expand
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Association of a haplotype block spanning SDAD1 gene and CXC chemokine genes with allergic rhinitis.
BACKGROUND Seasonal allergic rhinitis (SAR) is a common allergic disorder characterized by episodes of sneezing, rhinorrhea, and swelling of the nasal mucosa. Although the pathogenesis of SAR remainsExpand
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Identification of 33 polymorphisms in the adipocyte‐derived leucine aminopeptidase (ALAP) gene and possible association with hypertension
Adipocyte‐derived leucine aminopeptidase (ALAP) inactivates angiotensin II and/or generates bradykinin in the kidney, suggesting a possible role for ALAP in the regulation of blood pressure. WeExpand
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Linkage and association of febrile seizures to the IMPA2 gene on human chromosome 18
Background: Febrile seizures (FSs) are the most common form of childhood seizures, and genetic factors play a role in susceptibility to FS. Objective: To identify novel loci and genes associated withExpand
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Interstitial 1q43-q43 deletion with left ventricular noncompaction myocardium.
We describe a newborn infant with del(1)(q) syndrome, presenting with rare congenital cardiomyopathy and left ventricular noncompaction myocardium (LVNC), as well as typical clinical features such asExpand
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Linkage of human narcolepsy with HLA association to chromosome 4p13-q21.
Although narcolepsy is highly associated with human leukocyte antigen (HLA) DQ6/DQB1*0602 and/or DR2/DRB1*1501, most individuals with the HLA haplotype are free of narcolepsy. This indicates that HLAExpand
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