Search details
1.
Endothelial FOXC1 and FOXC2 promote intestinal regeneration after ischemia-reperfusion injury.
EMBO Rep
; 24(7): e56030, 2023 Jul 05.
Article
in English
| MEDLINE | ID: mdl-37154714
2.
Elucidation of pathological mechanism caused by human disease mutation in CaMKIIß.
J Neurosci Res
; 100(3): 880-896, 2022 03.
Article
in English
| MEDLINE | ID: mdl-35043465
3.
Genome sequencing and RNA sequencing of urinary cells reveal an intronic FBN1 variant causing aberrant splicing.
J Hum Genet
; 67(7): 387-392, 2022 Jul.
Article
in English
| MEDLINE | ID: mdl-35067677
4.
Generation of Flag/DYKDDDDK Epitope Tag Knock-In Mice Using i-GONAD Enables Detection of Endogenous CaMKIIα and ß Proteins.
Int J Mol Sci
; 23(19)2022 Oct 07.
Article
in English
| MEDLINE | ID: mdl-36233218
5.
Successful i-GONAD in Mice at Early Zygote Stage through In Vivo Electroporation Three Min after Intraoviductal Instillation of CRISPR-Ribonucleoprotein.
Int J Mol Sci
; 23(18)2022 Sep 14.
Article
in English
| MEDLINE | ID: mdl-36142589
6.
Cell lineage- and expression-based inference of the roles of forkhead box transcription factor Foxc2 in craniofacial development.
Dev Dyn
; 250(8): 1125-1139, 2021 08.
Article
in English
| MEDLINE | ID: mdl-33667029
7.
Biallelic Variants in CNPY3, Encoding an Endoplasmic Reticulum Chaperone, Cause Early-Onset Epileptic Encephalopathy.
Am J Hum Genet
; 102(2): 321-329, 2018 02 01.
Article
in English
| MEDLINE | ID: mdl-29394991
8.
A boy with biallelic frameshift variants in TTC5 and brain malformation resembling tubulinopathies.
J Hum Genet
; 66(12): 1189-1192, 2021 Dec.
Article
in English
| MEDLINE | ID: mdl-34168248
9.
De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.
Ann Neurol
; 83(4): 794-806, 2018 04.
Article
in English
| MEDLINE | ID: mdl-29534297
10.
De novo variants in RHOBTB2, an atypical Rho GTPase gene, cause epileptic encephalopathy.
Hum Mutat
; 39(8): 1070-1075, 2018 08.
Article
in English
| MEDLINE | ID: mdl-29768694
11.
De novo variants in SETD1B are associated with intellectual disability, epilepsy and autism.
Hum Genet
; 137(1): 95-104, 2018 Jan.
Article
in English
| MEDLINE | ID: mdl-29322246
12.
Co-ordinated brain and craniofacial development depend upon Patched1/XIAP regulation of cell survival.
Hum Mol Genet
; 24(3): 698-713, 2015 Feb 01.
Article
in English
| MEDLINE | ID: mdl-25292199
13.
Mef2c-F10N enhancer driven ß-galactosidase (LacZ) and Cre recombinase mice facilitate analyses of gene function and lineage fate in neural crest cells.
Dev Biol
; 402(1): 3-16, 2015 Jun 01.
Article
in English
| MEDLINE | ID: mdl-25794678
14.
Cnpy32xHA mice reveal neuronal expression of Cnpy3 in the brain.
J Neurosci Methods
; 383: 109730, 2023 01 01.
Article
in English
| MEDLINE | ID: mdl-36280087
15.
Differential roles of FOXC2 in the trabecular meshwork and Schlemm's canal in glaucomatous pathology.
Life Sci Alliance
; 6(9)2023 09.
Article
in English
| MEDLINE | ID: mdl-37414529
16.
A novel de novo TMEM63A variant in a patient with severe hypomyelination and global developmental delay.
Brain Dev
; 44(2): 178-183, 2022 Feb.
Article
in English
| MEDLINE | ID: mdl-34598833
17.
Parthenogenetic mosaicism: generation via second polar body retention and unmasking of a likely causative PER2 variant for hypersomnia.
Clin Epigenetics
; 13(1): 73, 2021 04 07.
Article
in English
| MEDLINE | ID: mdl-33827678
18.
ATP6V0A1 encoding the a1-subunit of the V0 domain of vacuolar H+-ATPases is essential for brain development in humans and mice.
Nat Commun
; 12(1): 2107, 2021 04 08.
Article
in English
| MEDLINE | ID: mdl-33833240
19.
Mouse Shh is required for prechordal plate maintenance during brain and craniofacial morphogenesis.
Dev Biol
; 327(1): 106-20, 2009 Mar 01.
Article
in English
| MEDLINE | ID: mdl-19103193
20.
Nanopore sequencing reveals a structural alteration of mirror-image duplicated genes in a genome-editing mouse line.
Congenit Anom (Kyoto)
; 60(4): 120-125, 2020 Jul.
Article
in English
| MEDLINE | ID: mdl-31837184