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An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation

Neurogenetics, 2022-04, Vol.23 (2), p.129-135

2022

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Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing

Journal of human genetics, 2022-07, Vol.67 (7), p.387-392

2022

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A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome

Journal of human genetics, 2023-07, Vol.68 (7), p.499-505

2023

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A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies

Journal of human genetics, 2021-12, Vol.66 (12), p.1189-1192

2021

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LAMA1 variants were identified Joubert syndrome patient

Pediatric investigation, 2022-01, Vol.64 (1), p.e14980-n/a

2022

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A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome

Journal of human genetics, 2023-01, Vol.68 (1), p.25-31

2023

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Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies

Journal of human genetics, 2021-11, Vol.66 (11), p.1061-1068

2021

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Immunohistochemical characterization of interstitial cells of Cajal (ICC) in the mouse intestine using whole mount preparations – with particular reference to their density, morphological features, and network patterns

Archives of histology and cytology, 2020-05, Vol.80 (1), p.1-15

2020

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SCN8A-related developmental and epileptic encephalopathy with ictal asystole requiring cardiac pacemaker implantation

Brain & development (Tokyo. 1979), 2021-08, Vol.43 (7), p.804-808

2021

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Nanopore sequencing reveals a structural alteration of mirror‐image duplicated genes in a genome‐editing mouse line

Congenital anomalies, 2020-07, Vol.60 (4), p.120-125

2020

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Two novel heterozygous variants in ATP1A3 cause movement disorders

Human genome variation, 2022-02, Vol.9 (1), p.7-7, Article 7

2022

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Nanopore sequencing reveals a structural alteration of mirror-image duplicated genes in a genome-editing mouse line

Congenital anomalies, 2020-07, Vol.60 (4), p.120-125

2020

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A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination

Molecular genetics & genomic medicine, 2019-08, Vol.7 (8), p.e814-n/a

2019

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DOC2B: A Novel Syntaxin-4 Binding Protein Mediating Insulin-Regulated GLUT4 Vesicle Fusion in Adipocytes

Diabetes (New York, N.Y.), 2009-02, Vol.58 (2), p.377-384

2009

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DOC2b is a SNARE regulator of glucose-stimulated delayed insulin secretion

Biochemical and biophysical research communications, 2009-07, Vol.384 (4), p.461-465

2009

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Identification of pathogenic deep intronic variant and exonic LINE‐1 insertion in a patient with Meckel syndrome

Annals of human genetics, 2023-07, Vol.87 (4), p.196-202

2023

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Distribution and morphological characteristics of the interstitial cells of Cajal in the ileocaecal junction of the guinea-pig

Cell and tissue research, 2009-10, Vol.338 (1), p.29-35

2009

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Identification of Glypican3 as a novel GLUT4-binding protein

Biochemical and biophysical research communications, 2008-05, Vol.369 (4), p.1204-1208

2008

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RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing

Journal of human genetics, 2024-02, Vol.69 (2), p.91-99

2024

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Synthesis and Release of Steroids in Intestines from Cynomolgus Monkeys (Macaca fascicularis)

Zoological Science, 2004-06, Vol.21 (6), p.639-648

2004

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Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review

Child neurology open, 2021-01, Vol.8

2021

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POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy

Neurology. Genetics, 2020-12, Vol.6 (6), p.e524-e524

2020

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Hepatocyte nuclear factor-4α regulates human cellular retinol-binding protein type II gene expression in intestinal cells

American journal of physiology: Gastrointestinal and liver physiology, 2009-03, Vol.296 (3), p.G524-G533

2009

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Mothers' Social Support of Students Preparing for High School Entrance Examinations

The Japanese Journal of Developmental Psychology, 2014, Vol.25(1), pp.1-11

2014

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Hepatocyte nuclear factor-4[alpha] regulates human cellular retinol-binding protein type II gene expression in intestinal cells

American journal of physiology: Gastrointestinal and liver physiology, 2009-03, Vol.296 (3), p.G524

2009

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An intronic GNAO1 variant leading to in-frame insertion cause movement disorder controlled by deep brain stimulation

Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing

A deep intronic TCTN2 variant activating a cryptic exon predicted by SpliceRover in a patient with Joubert syndrome

A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies

LAMA1 variants were identified Joubert syndrome patient

A novel de novo KCNB1 variant altering channel characteristics in a patient with periventricular heterotopia, abnormal corpus callosum, and mild seizure outcome

Comprehensive genetic analysis confers high diagnostic yield in 16 Japanese patients with corpus callosum anomalies

Immunohistochemical characterization of interstitial cells of Cajal (ICC) in the mouse intestine using whole mount preparations – with particular reference to their density, morphological features, and network patterns

SCN8A-related developmental and epileptic encephalopathy with ictal asystole requiring cardiac pacemaker implantation

Nanopore sequencing reveals a structural alteration of mirror‐image duplicated genes in a genome‐editing mouse line

Two novel heterozygous variants in ATP1A3 cause movement disorders

Nanopore sequencing reveals a structural alteration of mirror-image duplicated genes in a genome-editing mouse line

A case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination

DOC2B: A Novel Syntaxin-4 Binding Protein Mediating Insulin-Regulated GLUT4 Vesicle Fusion in Adipocytes

DOC2b is a SNARE regulator of glucose-stimulated delayed insulin secretion

Identification of pathogenic deep intronic variant and exonic LINE‐1 insertion in a patient with Meckel syndrome

Distribution and morphological characteristics of the interstitial cells of Cajal in the ileocaecal junction of the guinea-pig

Identification of Glypican3 as a novel GLUT4-binding protein

RNA sequencing and target long-read sequencing reveal an intronic transposon insertion causing aberrant splicing

Synthesis and Release of Steroids in Intestines from Cynomolgus Monkeys (Macaca fascicularis)

Novel HSD17B4 Variants Cause Progressive Leukodystrophy in Childhood: Case Report and Literature Review

POLR1C variants dysregulate splicing and cause hypomyelinating leukodystrophy

Hepatocyte nuclear factor-4α regulates human cellular retinol-binding protein type II gene expression in intestinal cells

Mothers' Social Support of Students Preparing for High School Entrance Examinations

Hepatocyte nuclear factor-4[alpha] regulates human cellular retinol-binding protein type II gene expression in intestinal cells

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