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Generation of Flag/DYKDDDDK Epitope Tag Knock-In Mice Using i -GONAD Enables Detection of Endogenous CaMKIIα and β Proteins

International journal of molecular sciences, 2022-10, Vol.23 (19), p.11915

2022

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ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice

Nature communications, 2021-04, Vol.12 (1), p.2107-2107, Article 2107

2021

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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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i-GONAD (improved genome-editing via oviductal nucleic acids delivery), a convenient in vivo tool to produce genome-edited rats

Scientific reports, 2018-08, Vol.8 (1), p.12059-12, Article 12059

2018

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A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay

Brain & development (Tokyo. 1979), 2022-02, Vol.44 (2), p.178-183

2022

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Co-ordinated brain and craniofacial development depend upon Patched1/XIAP regulation of cell survival

Human molecular genetics, 2015-02, Vol.24 (3), p.698-713

2015

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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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Successful i-GONAD in Mice at Early Zygote Stage through In Vivo Electroporation Three Min after Intraoviductal Instillation of CRISPR-Ribonucleoprotein

International journal of molecular sciences, 2022-09, Vol.23 (18), p.10678

2022

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De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy

Annals of neurology, 2018-04, Vol.83 (4), p.794-806

2018

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Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function

Nature medicine, 2008-02, Vol.14 (2), p.125-133

2008

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Cell lineage‐ and expression‐based inference of the roles of forkhead box transcription factor Foxc2 in craniofacial development

Developmental dynamics, 2021-08, Vol.250 (8), p.1125-1139

2021

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Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy

American journal of human genetics, 2018-02, Vol.102 (2), p.321-329

2018

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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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Mouse GLI3 Regulates Fgf8 Expression and Apoptosis in the Developing Neural Tube, Face, and Limb Bud

Developmental biology, 2002-11, Vol.251 (2), p.320-332

2002

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De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders

Annals of clinical and translational neurology, 2018-03, Vol.5 (3), p.280-296

2018

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Mouse Shh is required for prechordal plate maintenance during brain and craniofacial morphogenesis

Developmental biology, 2009-03, Vol.327 (1), p.106-120

2009

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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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Elucidation of pathological mechanism caused by human disease mutation in CaMKIIβ

Journal of neuroscience research, 2022-03, Vol.100 (3), p.880-896

2022

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Foxc2 in pharyngeal arch mesenchyme is important for aortic arch artery remodelling and ventricular septum formation

Biomedical Research, 2015/08/01, Vol.36(4), pp.235-245

2015

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Foxc2CreERT2 knock‐in mice mark stage‐specific Foxc2‐expressing cells during mouse organogenesis

Congenital anomalies, 2017-01, Vol.57 (1), p.24-31

2017

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Pol I-transcribed hepatitis C virus genome RNA replicates, produces an infectious virus and leads to severe hepatic steatosis in transgenic mice

Biomedical Research, 2015/06/01, Vol.36(3), pp.159-167

2015

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Cnpy3 mice reveal neuronal expression of Cnpy3 in the brain

Journal of neuroscience methods, 2023-01, Vol.383, p.109730, Article 109730

2023

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Cnpy32xHA mice reveal neuronal expression of Cnpy3 in the brain

Journal of neuroscience methods, 2023-01, Vol.383, p.109730-109730, Article 109730

2023

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De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism

Human genetics, 2018, Vol.137 (1), p.95-104

2018

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Endothelial FOXC1 and FOXC2 promote intestinal regeneration after ischemia–reperfusion injury

EMBO reports, 2023-07, Vol.24 (7), p.e56030-n/a

2023

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Generation of Flag/DYKDDDDK Epitope Tag Knock-In Mice Using i -GONAD Enables Detection of Endogenous CaMKIIα and β Proteins

ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice

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

i-GONAD (improved genome-editing via oviductal nucleic acids delivery), a convenient in vivo tool to produce genome-edited rats

A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay

Co-ordinated brain and craniofacial development depend upon Patched1/XIAP regulation of cell survival

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

Successful i-GONAD in Mice at Early Zygote Stage through In Vivo Electroporation Three Min after Intraoviductal Instillation of CRISPR-Ribonucleoprotein

De novo hotspot variants in CYFIP2 cause early‐onset epileptic encephalopathy

Prevention of the neurocristopathy Treacher Collins syndrome through inhibition of p53 function

Cell lineage‐ and expression‐based inference of the roles of forkhead box transcription factor Foxc2 in craniofacial development

Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy

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

Mouse GLI3 Regulates Fgf8 Expression and Apoptosis in the Developing Neural Tube, Face, and Limb Bud

De novo variants in CAMK2A and CAMK2B cause neurodevelopmental disorders

Mouse Shh is required for prechordal plate maintenance during brain and craniofacial morphogenesis

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

Elucidation of pathological mechanism caused by human disease mutation in CaMKIIβ

Foxc2 in pharyngeal arch mesenchyme is important for aortic arch artery remodelling and ventricular septum formation

Foxc2CreERT2 knock‐in mice mark stage‐specific Foxc2‐expressing cells during mouse organogenesis

Pol I-transcribed hepatitis C virus genome RNA replicates, produces an infectious virus and leads to severe hepatic steatosis in transgenic mice

Cnpy3 mice reveal neuronal expression of Cnpy3 in the brain

Cnpy32xHA mice reveal neuronal expression of Cnpy3 in the brain

De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism

Endothelial FOXC1 and FOXC2 promote intestinal regeneration after ischemia–reperfusion injury

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