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Article
Galactosialidosis: molecular heterogeneity in biosynthesis and processing of protective protein for β-galactosidase
Biosynthesis and processing of the protective protein for β-galactosidase in normal and galactosialidosis fibroblasts were investigated using specific antiserum preparations. A 45-kd precursor was processed to...
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Article
Hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency: Identification of point mutations in Japanese patients with Lesch-Nyhan syndrome and hereditary gout and their permanent expression in an HPRT-deficient mouse cell line
Two different single nucleotide transitions of hypoxanthine-guanine phosphoribosyltransferase (HPRT) were identified in a Japanese patient with Lesch-Nyhan syndrome (LNS) and a patient with hereditary gout. HP...
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Article
Human orosomucoid polymorphism: molecular basis of the three common ORM1 alleles, ORM1*F1, ORM1*F2, and ORM1*S
The human orosomucoid (ORM) is controlled by two closely linked loci, ORM1 and ORM2, and two tandem genes, AGP1 and AGP2, encoding the proteins produced by the two loci, have been cloned. In this study the mo...
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Article
Anxiety traits associated with a polymorphism in the serotonin transporter gene regulatory region in the Japanese
We determined polymorphism in the serotonin (5-HT) transporter gene-linked polymorphic region (5-HTTLPR) in 501 healthy Japanese, individuals, using the polymerase chain reaction of Lesch et al., with minor m...
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Article
NPC1 gene mutations in Japanese patients with Niemann-Pick disease type C
Complementary and genomic DNAs isolated from the fibroblasts of 10 Japanese (7 late infantile, 2 juvenile, and 1 adult form of the disease) and one Caucasian patient with Niemann-Pick disease type C were analy...
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Article
No evidence for significant association between GABA receptor genes in chromosome 15q11–q13 and autism in a Japanese population
The γ-aminobutyric acid (GABA) receptor genes GABRB3, GABRA5, and GABRG3 located on chromosome 15q11–q13 have been major candidates for susceptibility genes for autism, a neurodevelopmental disorder with a comple...
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Article
Gastric adenocarcinoma with rhabdoid morphology
Extrarenal rhabdoid tumors (ERRTs) are very rare neoplasms and have been reported in a range of organs, including sixteen cases in the stomach. We describe a woman aged 86 years who had an advanced gastric tum...
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Article
Apoptosis induced by an uromodulin mutant C112Y and its suppression by topiroxostat
Familial juvenile hyperuricemic nephropathy (FJHN) is an autosomal dominant disorder caused by mutations in UMOD that encodes uromodulin. Topiroxostat, a novel non-purine analog, selectively inhibits xanthine oxi...
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Article
Open AccessA novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1
Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant disorder characterized by hair hypopigmentation, abnormal iris pigmentation, and congenital hearing loss. WS1 is caused by mutations in paired box...
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Article
Open AccessA novel SLC34A2 mutation in a patient with pulmonary alveolar microlithiasis
Pulmonary alveolar microlithiasis (PAM) is a rare autosomal recessive disease caused by mutations in SLC34A2 and characterized by intra-alveolar accumulation of microliths. We diagnosed a case of PAM in a 27-year...
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Article
Nagashima-type palmoplantar keratosis with melanoma: absence of epidermal Langerhans cells in hyperkeratotic skin
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Article
Open AccessPhenotypic variability of Niemann-Pick disease type C including a case with clinically pure schizophrenia: a case report
Niemann-Pick disease type C (NPC) is a lysosomal storage disorder with severe prognosis. Disease-specific therapy is crucial to prevent disease progression; however, diagnosing NPC is quite difficult because o...
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Article
Open AccessA new heterozygous compound mutation in the CTSA gene in galactosialidosis
Galactosialidosis is an autosomal recessive lysosomal storage disease caused by the combined deficiency of lysosomal β-galactosidase and neuraminidase due to a defect in the protective protein/cathepsin A. Pat...
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Article
Open AccessDuchenne muscular dystrophy–like phenotype in an LGMD2I patient with novel FKRP gene variants
A 32-year-old man initially received a diagnosis of Duchenne muscular dystrophy (DMD). Genetic analysis revealed two novel heterozygous FKRP variants: c.169G>A (p.Glu57Lys) and c.692G>A (p.Trp231*). These results...
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Article
Open AccessClinical course of epilepsy and white matter abnormality linked to a novel DYRK1A variant
Epilepsy and white matter abnormality have been reported in DYRK1A-related intellectual disability syndrome; however, the clinical course has yet to be elucidated. Here, we report the clinical course of an 18-yea...
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Article
Open AccessClinical course of a Japanese patient with developmental delay linked to a small 6q16.1 deletion
There is only one report of patients with developmental delay due to a 6q16.1 deletion that does not contain the SIM1 gene. A 3-year-old female showed strabismus, cleft soft palate, hypotonia at birth, and global...
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Article
Open AccessAssociation of IL-4 with pachychoroid neovasculopathy
The purpose of this study was to identify the inflammatory cytokines that were associated with pachychoroid neovasculopathy (PNV). Seventy-five eyes of 75 patients with PNV, 145 eyes of 145 patients with neova...
