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Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome
Novel biallelic CDK9 variants are associated with retinal dystrophy without CHARGE-like malformation syndrome
Cyclin-dependent kinase 9 (CDK9) phosphorylates the C-terminal domain of RNA polymerase II (RNAPII) to regulate transcript...
Evidence of maternal inheritance of Nizon-Isidor syndrome in an individual with GAMT and TNFRSF13B sequence variants
Evidence of maternal inheritance of Nizon-Isidor syndrome in an individual with GAMT and TNFRSF13B sequence variants
Nizon-Isidor syndrome (NIZIDS) is a rare neurodevelopmental disorder caused by heterozygous MED12L variants, where previou...
Meiotic determinants of unbalanced gametogenesis in chromosomal inversion carriers 
Meiotic determinants of unbalanced gametogenesis in chromosomal inversion carriers 
Preimplantation genetic testing for structural rearrangements (PGT-SR) has already been applied in inversion carriers. How...
The c.644 G > A p.(Trp215*) founder variant in the CLIC5 gene causes progressive autosomal recessive deafness 103 (DFNB103) in Eastern Siberia
The c.644 G > A p.(Trp215*) founder variant in the CLIC5 gene causes progressive autosomal recessive deafness 103 (DFNB103) in Eastern Siberia
Previously only two families were known with progressive autosomal recessive deafness 103 (DFNB103, OMIM616042) caused by ...
LEO1 haploinsufficiency is associated with developmental delays and autism spectrum disorder
LEO1 encodes a core subunit of the evolutionarily conserved RNA polymerase associated factor 1 complex (PAF1C), a key regu...
Balanced chromosomal insertions as the mechanism of recurrent familial microstructural abnormalities: detailed analyses using long-read whole-genome sequencing
Balanced chromosomal insertions as the mechanism of recurrent familial microstructural abnormalities: detailed analyses using long-read whole-genome sequencing
Chromosomal insertions are a type of structural abnormality. While individuals with balanced insertions are typically asym...
Perinatal outcomes of fetal CNVs detected by genome-wide non-invasive prenatal testing in Japan
Perinatal outcomes of fetal CNVs detected by genome-wide non-invasive prenatal testing in Japan
Non-invasive prenatal testing (NIPT) enables the screening of fetal chromosomal abnormalities by analyzing cell-free DNA (...
Biosynthesis of GPI anchored proteins, its deficiencies and treatment
Biosynthesis of GPI anchored proteins, its deficiencies and treatment
Glycosylphosphatidylinositol (GPI) anchoring is a widely conserved post-translational modification in eukaryotes, in which...
Genetic inhibition of nicotinamide N-methyltransferase and prevention of alcohol-associated fatty liver in humans
Genetic inhibition of nicotinamide N-methyltransferase and prevention of alcohol-associated fatty liver in humans
Recent studies of animal models reported Nicotinamide N-methyltransferase (NNMT) as a potential therapeutic target for pre...
Ultra-rare monogenic disorders frequently detected among sex chromosome aneuploidy patients with atypical findings
Sex chromosome aneuploidies (SCA) such as Turner, Klinefelter, Jacobs, and Trisomy X syndromes are prevalent genetic disor...
A novel mutation in the WNK1/HSN2 gene causing hereditary sensory and autonomic neuropathy type 2 in Chinese patient
A novel mutation in the WNK1/HSN2 gene causing hereditary sensory and autonomic neuropathy type 2 in Chinese patient
Hereditary sensory and autonomic neuropathy type 2 (HSAN2) is a group of extremely rare autosomal recessive neurological d...
Triple mosaic variants of PURA in a patient with multiple congenital anomalies
Triple mosaic variants of PURA in a patient with multiple congenital anomalies
In monogenic diseases, double mosaic variants of the same gene have rarely been identified. Here, we report the case of tr...
Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan
Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in Japan
Large-scale population cohort studies that collect genomic information are tasked with returning an assessment of genetic ...
Clinical and genetic spectrum of patients with IRF2BPL syndrome
Clinical and genetic spectrum of patients with IRF2BPL syndrome
Interferon regulatory factor 2 binding protein-like (IRF2BPL) is a single-exon gene that is ubiquitously expressed in vari...
Pathogenic variants in SHROOM3 associated with hemifacial microsomia
Pathogenic variants in SHROOM3 associated with hemifacial microsomia
Hemifacial microsomia (HFM) is a rare congenital disorder that affects facial symmetry, ear development, and other congeni...
A novel missense pathogenic variants of TMEM53 in an Iranian family with craniotubular dysplasia, Ikegawa type
A novel missense pathogenic variants of TMEM53 in an Iranian family with craniotubular dysplasia, Ikegawa type
Craniotubular dysplasia, Ikegawa type (CTDI) is a rare autosomal recessive skeletal dysplasia characterized by hyperostosi...
Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history
Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history
Mutations in IBA57 disrupt iron-sulfur clusters maturation, causing a rare mitochondrial disease. Clinical manifestations ...
Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history
Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history
Mutations in IBA57 disrupt iron-sulfur clusters maturation, causing a rare mitochondrial disease. Clinical manifestations ...
Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy
Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy
We surveyed the status of the secondary finding (SF) disclosure in comprehensive genome profiling (CGP) in 2020. The situa...
Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy
Nationwide survey of the secondary findings in cancer genomic profiling: survey including liquid biopsy
We surveyed the status of the secondary finding (SF) disclosure in comprehensive genome profiling (CGP) in 2020. The situa...
Correction: Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-
Correction: Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-
Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Ja...
Correction: Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-
Correction: Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-
Department of Neurology, Graduate School of Medicine, The University of Tokyo, 7-3-1 Hongo, Bunkyo-ku, Tokyo, 113-8655, Ja...
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation
TXNDC15 encodes thioredoxin domain-containing protein 15, a protein disulfide isomerase that plays a role in ciliogenesis....
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation
Biallelic TXNDC15 variants associated with Joubert syndrome-related molar tooth sign and forebrain malformation
TXNDC15 encodes thioredoxin domain-containing protein 15, a protein disulfide isomerase that plays a role in ciliogenesis....
Development of a method for the imputation of the multi-allelic serotonin-transporter-linked polymorphic region (5-HTTLPR) in the Japanese population
Development of a method for the imputation of the multi-allelic serotonin-transporter-linked polymorphic region (5-HTTLPR) in the Japanese population
Serotonin-transporter-linked polymorphic region (5-HTTLPR), a variable number of tandem repeats in the promoter region of ...
Development of a method for the imputation of the multi-allelic serotonin-transporter-linked polymorphic region (5-HTTLPR) in the Japanese population
Development of a method for the imputation of the multi-allelic serotonin-transporter-linked polymorphic region (5-HTTLPR) in the Japanese population
Serotonin-transporter-linked polymorphic region (5-HTTLPR), a variable number of tandem repeats in the promoter region of ...
Genetic analysis of a Yayoi individual from the Doigahama site provides insights into the origins of immigrants to the Japanese Archipelago
Genetic analysis of a Yayoi individual from the Doigahama site provides insights into the origins of immigrants to the Japanese Archipelago
Mainland Japanese have been recognized as having dual ancestry, originating from indigenous Jomon people and immigrants fr...
Genetic analysis of a Yayoi individual from the Doigahama site provides insights into the origins of immigrants to the Japanese Archipelago
Genetic analysis of a Yayoi individual from the Doigahama site provides insights into the origins of immigrants to the Japanese Archipelago
Mainland Japanese have been recognized as having dual ancestry, originating from indigenous Jomon people and immigrants fr...
Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome
Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome
FBXW7 (F-box and WD-repeat domain-containing 7) is a tumor suppressor gene, and its germline variants have been causally l...
Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome
Two-hit mutation causes Wilms tumor in an individual with FBXW7-related neurodevelopmental syndrome
FBXW7 (F-box and WD-repeat domain-containing 7) is a tumor suppressor gene, and its germline variants have been causally l...
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