Search Results - "Shibata, Yuka"
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Prevalence of repeat expansions causing autosomal dominant spinocerebellar ataxias in Hokkaido, the northernmost island of Japan
Published in Journal of human genetics (01-01-2024)“…In Japan, approximately 30% of spinocerebellar degeneration (SCD) is hereditary, and more than 90% of hereditary SCD is autosomal dominant SCD (AD-SCD). We…”
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2
Evaluation of nonalcoholic fatty liver disease in Japanese patients with psoriasis: Chest CT imaging for screening purposes
Published in Journal of dermatology (01-12-2022)“…Psoriasis patients have been reported to have a higher prevalence of nonalcoholic fatty liver disease (NAFLD), therefore detection at an early stage is…”
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3
Clinical impact of a cancer genomic profiling test using an in‐house comprehensive targeted sequencing system
Published in Cancer science (01-10-2020)“…Precision medicine is a promising strategy for cancer treatment. In this study, we developed an in‐house clinical sequencing system to perform a comprehensive…”
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4
Adrenoleukodystrophy siblings with a novel ABCD1 missense variant presenting with phenotypic differences: a case report and literature review
Published in Journal of human genetics (01-05-2021)“…Adrenoleukodystrophy (ALD) is an X-linked disease that affects primarily the white matter of the central nervous system and adrenal cortex. A correlation…”
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5
Environmental biodegradability of recombinant structural protein
Published in Scientific reports (08-01-2021)“…Next generation polymers needs to be produced from renewable sources and to be converted into inorganic compounds in the natural environment at the end of…”
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Genetic Variability of the Noncoding Control Region of Cutaneous Merkel Cell Polyomavirus: Identification of Geographically Related Genotypes
Published in The Journal of infectious diseases (23-04-2018)“…This study demonstrates that the noncoding control region (NCCR) of Merkel cell polyomavirus varies according to ethnicity. The 25-base pair duplication in the…”
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7
Diffuse cutaneous mastocytosis: Identification of KIT mutation and long‐term follow‐up with serum tryptase level
Published in Journal of dermatology (01-05-2021)“…Diffuse cutaneous mastocytosis (DCM) is the least common subtype of cutaneous mastocytotis and is generally more severe than other subtypes. We herein report a…”
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8
Inappropriate Metacognitive Status Increases State Anxiety in Genetic Counseling Clients
Published in Frontiers in psychology (12-05-2022)“…Many genetic counseling (GC) studies have focused on anxiety status because clients of GC often feel anxious during their visits. Metacognition is known to be…”
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Keratosis pilaris caused by dupilumab for the treatment of bronchial asthma
Published in Journal of cutaneous immunology and allergy (01-08-2021)“…Here, we present two patients with bronchial asthma, who developed keratosis pilaris (KP) following treatment with dupilumab, a monoclonal antibody to IL‐4…”
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10
Practice of Hereditary ATTR Amyloidosis in Non-endemic Areas of Japan
Published in Internal Medicine (01-06-2023)“…Objective Hereditary ATTR (ATTRv) amyloidosis was once an incurable disease; however, in recent years, disease-modifying therapies, such as tafamidis and…”
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Risk factors for lymph node metastasis of ovarian, fallopian tube and primary peritoneal cancer in hereditary breast and ovarian cancer syndrome
Published in Japanese journal of clinical oncology (16-12-2020)“…Abstract Background To establish an individualized surgical strategy for lymphadenectomy in ovarian cancer patients with the germline BRCA1 and BRCA2…”
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12
Investigating the role of genetic counseling in neuromuscular disease considering life events
Published in Journal of human genetics (01-06-2019)“…Genetic diagnoses are becoming a routine in the medical practice of neuromuscular diseases. Many diagnoses, however, can have an influence on relatives and…”
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13
Natural Escherichia coli strains undergo cell-to-cell plasmid transformation
Published in Biochemical and biophysical research communications (02-12-2016)“…Horizontal gene transfer is a strong tool that allows bacteria to adapt to various environments. Although three conventional mechanisms of horizontal gene…”
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14
Clinical significance of comprehensive genomic profiling tests covered by public insurance in patients with advanced solid cancers in Hokkaido, Japan
Published in Japanese journal of clinical oncology (01-05-2021)“…Abstract Background Comprehensive cancer genomic profiling has been used recently for patients with advanced solid cancers. Two cancer genomic profiling tests…”
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15
De novo novel splice‐site mutation in FLT4/VEGFR3 is associated with Milroy disease
Published in Journal of dermatology (01-01-2021)Get full text
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16
Validity and reliability of a point‐of‐care nerve conduction device in diabetes patients
Published in Journal of diabetes investigation (01-09-2019)“…Aims/Introduction Although nerve conduction study (NCS) using a standard electromyography system (EMGS) is considered to be the gold standard in evaluating…”
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Point‐of‐care nerve conduction device predicts the severity of diabetic polyneuropathy: A quantitative, but easy‐to‐use, prediction model
Published in Journal of diabetes investigation (01-04-2021)“…Aims/Introduction A gold standard in the diagnosis of diabetic polyneuropathy (DPN) is a nerve conduction study. However, as a nerve conduction study requires…”
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18
Clinical and molecular delineation of classical-like Ehlers–Danlos syndrome through a comprehensive next-generation sequencing-based screening system
Published in Frontiers in genetics (30-08-2023)“…Classical-like Ehlers–Danlos syndrome (clEDS) is an autosomal recessive disorder caused by complete absence of tenascin-X resulting from biallelic variation in…”
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Simplified electrophysiological approach combining a point‐of‐care nerve conduction device and an electrocardiogram produces an accurate diagnosis of diabetic polyneuropathy
Published in Journal of diabetes investigation (01-06-2024)“…Aims/Introduction This study aimed to investigate the diagnostic potential of two simplified tests, a point‐of‐care nerve conduction device (DPNCheck™) and a…”
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20
The disease sites of female genital cancers of BRCA1/2-associated hereditary breast and ovarian cancer: a retrospective study
Published in World journal of surgical oncology (02-02-2021)“…Disease sites of female genital tract cancers of BRCA1/2-associated hereditary breast and ovarian cancer (HBOC) are less understood than non-hereditary…”
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