Intracerebroventricular Administration of AAV9-PHP.B SYN1-EmGFP Induces Widespread Transgene Expression in the Mouse and Monkey Central Nervous System
Human Gene Therapy
Adriana Galvan and Terri L. Petkau and Austin M. Hill and Andrea J. Korecki and Ge Lu and Diane Choi and Kazi Rahman and Elizabeth M. Simpson and Blair R. Leavitt and Yoland Smith
DOI: 10.1089/hum.2020.301
06/2021

Human MiniPromoters for ocular-rAAV expression in ON bipolar, cone, corneal, endothelial, Müller glial, and PAX6 cells.
Gene therapy
Korecki AJ and Cueva-Vargas JL and Fornes O and Agostinone J and Farkas RA and Hickmott JW and Lam SL and Mathelier A and Zhou M and Wasserman WW and Di Polo A and Simpson EM
DOI: 10.1038/s41434-021-00227-z
PubMed: 33531684
02/2021

Human progranulin-expressing mice as a novel tool for the development of progranulin-modulating therapeutics.
Neurobiology of disease
DOI: 10.1016/j.nbd.2021.105314
PubMed: 33636385
02/2021

A Novel Mouse Model for Pyridoxine-Dependent Epilepsy Due to Antiquitin Deficiency.
Human molecular genetics
DOI: 10.1093/hmg/ddaa202
PubMed: 32969477
09/2020

Germline CRISPR/Cas9-Mediated Gene Editing Prevents Vision Loss in a Novel Mouse Model of Aniridia.
Molecular therapy. Methods & clinical development
DOI: 10.1016/j.omtm.2020.03.002
PubMed: 32258211
03/2020

Ferroportin-mediated iron export from vascular endothelial cells in retina and brain.
Experimental eye research
DOI: 10.1016/j.exer.2019.107728
PubMed: 31323276
07/2019

Twenty-Seven Tamoxifen-Inducible iCre-Driver Mouse Strains for Eye and Brain, Including Seventeen Carrying a New Inducible-First Constitutive-Ready Allele.
Genetics
DOI: 10.1534/genetics.119.301984
PubMed: 30765420
02/2019

How do genes that escape from X-chromosome inactivation contribute to Turner syndrome?
American journal of medical genetics. Part C, Seminars in medical genetics
DOI: 10.1002/ajmg.c.31672
PubMed: 30779428
02/2019

Epistasis between Pax6Sey and genetic background reinforces the value of defined hybrid mouse models for therapeutic trials.
Gene therapy
DOI: 10.1038/s41434-018-0043-6
PubMed: 30258099
09/2018

New MiniPromoter Ple345 (NEFL) Drives Strong and Specific Expression in Retinal Ganglion Cells of Mouse and Primate Retina.
Human gene therapy
Simpson E and Korecki AJ and Fornes O and McGill TJ and Cueva-Vargas JL and Agostinone J and Farkas RA and Hickmott JW and Lam SL and Mathelier A and Renner LM and Stoddard J and Wasserman WW
DOI: 10.1089/hum.2018.118
PubMed: 30062914
07/2018

Human cis-acting elements regulating escape from X-chromosome inactivation function in mouse.
Human molecular genetics
Peeters SB and Korecki AJ and Simpson EM and Brown CJ
DOI: 10.1093/hmg/ddy039
PubMed: 29401310
04/2018

HMMR acts in the PLK1-dependent spindle positioning pathway and supports neural development.
eLife
Connell M and Chen H and Jiang J and Kuan CW and Fotovati A and Chu TL and He Z and Lengyell TC and Li H and Kroll T and Li AM and Goldowitz D and Frappart L and Ploubidou A and Patel MS and Maxwell CA
PubMed: 28994651
10/2017

Genome wide conditional mouse knockout resources
Drug Discovery Today: Disease Models
2017

Co-activator candidate interactions for orphan nuclear receptor NR2E1.
BMC genomics
DOI: 10.1186/s12864-016-3173-5
PubMed: 27782803
10/2016

rAAV-compatible MiniPromoters for restricted expression in the brain and eye.
Molecular brain
DOI: 10.1186/s13041-016-0232-4
PubMed: 27164903
05/2016

PAX6 MiniPromoters drive restricted expression from rAAV in the adult mouse retina.
Molecular therapy. Methods & clinical development
DOI: 10.1038/mtm.2016.51
PubMed: 27556059
2016

Intravitreal delivery of a novel AAV vector targets ON bipolar cells and restores visual function in a mouse model of complete congenital stationary night blindness.
Human molecular genetics
DOI: 10.1093/hmg/ddv341
PubMed: 26310623
11/2015

Nr2e1 regulates retinal lamination and the development of Müller glia, S-cones, and glycineric amacrine cells during retinogenesis.
Molecular brain
DOI: 10.1186/s13041-015-0126-x
PubMed: 26092486
2015

Combined serial analysis of gene expression and transcription factor binding site prediction identifies novel-candidate-target genes of Nr2e1 in neocortex development.
BMC genomics
DOI: 10.1186/s12864-015-1770-3
PubMed: 26204903
2015

Targeted CNS Delivery Using Human MiniPromoters and Demonstrated Compatibility with Adeno-Associated Viral Vectors.
Molecular therapy. Methods & clinical development
DOI: 10.1038/mtm.2013.5
PubMed: 24761428
01/2014

Non-coding-regulatory regions of human brain genes delineated by bacterial artificial chromosome knock-in mice.
BMC biology
DOI: 10.1186/1741-7007-11-106
PubMed: 24124870
2013

Targeting of >1.5 Mb of human DNA into the mouse X chromosome reveals presence of cis-acting regulators of epigenetic silencing.
Genetics
DOI: 10.1534/genetics.112.143743
PubMed: 23023002
12/2012

The mammalian gene function resource: the International Knockout Mouse Consortium.
Mammalian genome : official journal of the International Mammalian Genome Society
DOI: 10.1007/s00335-012-9422-2
PubMed: 22968824
10/2012

Beyond knockouts: cre resources for conditional mutagenesis.
Mammalian genome : official journal of the International Mammalian Genome Society
DOI: 10.1007/s00335-012-9430-2
PubMed: 22926223
10/2012

Retina restored and brain abnormalities ameliorated by single-copy knock-in of human NR2E1 in null mice.
Molecular and cellular biology
DOI: 10.1128/mcb.06016-11
PubMed: 22290436
04/2012

Modelling human regulatory variation in mouse: finding the function in genome-wide association studies and whole-genome sequencing.
PLoS genetics
DOI: 10.1371/journal.pgen.1002544
PubMed: 22396661
2012

The transcription factor encyclopedia.
Genome biology
DOI: 10.1186/gb-2012-13-3-r24
PubMed: 22458515
2012

Absence of NR2E1 mutations in patients with aniridia.
Molecular vision
PubMed: 23213277
2012

A high G418-resistant neo(R) transgenic mouse and mouse embryonic fibroblast (MEF) feeder layers for cytotoxicity and gene targeting in vivo and in vitro.
Drug and chemical toxicology
DOI: 10.3109/01480545.2010.544316
PubMed: 21740348
10/2011

Hyperactivity, startle reactivity and cell-proliferation deficits are resistant to chronic lithium treatment in adult Nr2e1(frc/frc) mice.
Genes, brain, and behavior
DOI: 10.1111/j.1601-183x.2010.00602.x
PubMed: 20497236
10/2010

A regulatory toolbox of MiniPromoters to drive selective expression in the brain.
Proceedings of the National Academy of Sciences of the United States of America
DOI: 10.1073/pnas.1009158107
PubMed: 20807748
09/2010

Laboratory Animal Management Assistant (LAMA): a LIMS for active research colonies.
Mammalian genome : official journal of the International Mammalian Genome Society
DOI: 10.1007/s00335-010-9258-6
PubMed: 20411264
06/2010

Expression analysis of novel striatal-enriched genes in Huntington disease.
Human molecular genetics
DOI: 10.1093/hmg/ddp527
PubMed: 19934114
02/2010

Next generation tools for high-throughput promoter and expression analysis employing single-copy knock-ins at the Hprt1 locus.
Genomics
DOI: 10.1016/j.ygeno.2008.09.014
PubMed: 18950699
03/2009

Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi.
Nature
DOI: 10.1038/nature07586
PubMed: 19078957
01/2009

Initial association of NR2E1 with bipolar disorder and identification of candidate mutations in bipolar disorder, schizophrenia, and aggression through resequencing.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics
DOI: 10.1002/ajmg.b.30696
PubMed: 18205168
09/2008

Identification of a set of genes showing regionally enriched expression in the mouse brain.
BMC neuroscience
DOI: 10.1186/1471-2202-9-66
PubMed: 18625066
07/2008

Infant serotonin transporter (SLC6A4) promoter genotype is associated with adverse neonatal outcomes after prenatal exposure to serotonin reuptake inhibitor medications.
Molecular psychiatry
DOI: 10.1038/sj.mp.4002007
PubMed: 17519929
01/2008

Mutation and evolutionary analyses identify NR2E1-candidate-regulatory mutations in humans with severe cortical malformations.
Genes, brain, and behavior
DOI: 10.1111/j.1601-183x.2006.00277.x
PubMed: 17054721
08/2007

Absence of mutations in NR2E1 and SNX3 in five patients with MMEP (microcephaly, microphthalmia, ectrodactyly, and prognathism) and related phenotypes.
BMC medical genetics
DOI: 10.1186/1471-2156-8-48
PubMed: 17655765
2007

Hippi is essential for node cilia assembly and Sonic hedgehog signaling.
Developmental biology
DOI: 10.1016/j.ydbio.2006.09.001
PubMed: 17027958
12/2006

Als2-deficient mice exhibit disturbances in endosome trafficking associated with motor behavioral abnormalities.
Proceedings of the National Academy of Sciences of the United States of America
DOI: 10.1073/pnas.0510197103
PubMed: 16769894
06/2006

SAGE2Splice: unmapped SAGE tags reveal novel splice junctions.
PLoS computational biology
DOI: 10.1371/journal.pcbi.0020034
PubMed: 16683015
04/2006

Deletion of the nuclear receptor Nr2e1 impairs synaptic plasticity and dendritic structure in the mouse dentate gyrus.
Neuroscience
DOI: 10.1016/j.neuroscience.2005.08.091
PubMed: 16289828
02/2006

A mouse atlas of gene expression: large-scale digital gene-expression profiles from precisely defined developing C57BL/6J mouse tissues and cells.
Proceedings of the National Academy of Sciences of the United States of America
DOI: 10.1073/pnas.0509455102
PubMed: 16352711
12/2005

Pathological aggression in "fierce" mice corrected by human nuclear receptor 2E1.
The Journal of neuroscience : the official journal of the Society for Neuroscience
DOI: 10.1523/jneurosci.4757-04.2005
PubMed: 16000615
07/2005

Of mice and men: will the intersection of social science and genetics create new approaches for intimate partner violence?
Journal of interpersonal violence
DOI: 10.1177/0886260504268120
PubMed: 15618562
01/2005

Caspase-7 expanded function and intrinsic expression level underlies strain-specific brain phenotype of caspase-3-null mice.
The Journal of neuroscience : the official journal of the Society for Neuroscience
DOI: 10.1523/jneurosci.3356-04.2004
PubMed: 15525783
11/2004

Engineering embryonic stem cell derived glia for adenosine delivery.
Neuroscience letters
DOI: 10.1016/j.neulet.2004.08.031
PubMed: 15488315
11/2004

The dark phase improves genetic discrimination for some high throughput mouse behavioral phenotyping.
Genes, brain, and behavior
DOI: 10.1111/j.1601-183x.2004.00069.x
PubMed: 15140012
06/2004

Unexpected embryonic stem (ES) cell mutations represent a concern in gene targeting: lessons from "fierce" mice.
Genesis (New York, N.Y. : 2000)
DOI: 10.1002/gene.20001
PubMed: 14994267
02/2004

Retroposon compensatory mechanism hypothesis not supported: Zfa knockout mice are fertile.
Genomics
DOI: 10.1016/s0888-7543(03)00155-1
PubMed: 12906850
09/2003

Metaphase FISHing of transgenic mice recommended: FISH and SKY define BAC-mediated balanced translocation.
Genesis (New York, N.Y. : 2000)
DOI: 10.1002/gene.10205
PubMed: 12872244
07/2003

Selective striatal neuronal loss in a YAC128 mouse model of Huntington disease.
Human molecular genetics
DOI: 10.1093/hmg/ddg169
PubMed: 12812983
07/2003

Novel vertebrate genes and putative regulatory elements identified at kidney disease and NR2E1/fierce loci.
Genomics
DOI: 10.1006/geno.2002.6795
PubMed: 12079282
07/2002

Novel Sxr(a) ES cell line offers hope for Y chromosome gene-targeted mice.
Genesis (New York, N.Y. : 2000)
DOI: 10.1002/gene.10093
PubMed: 12112873
06/2002

Fierce: a new mouse deletion of Nr2e1; violent behaviour and ocular abnormalities are background-dependent.
Behavioural brain research
DOI: 10.1016/s0166-4328(01)00413-2
PubMed: 11997145
05/2002

Transgenic mice for the preparation of puromycin-resistant primary embryonic fibroblast feeder layers for embryonic stem cell selection.
Mammalian genome : official journal of the International Mammalian Genome Society
DOI: 10.1007/s003350010238
PubMed: 11210188
02/2001

Inter-chromosomal recombination of Mll and Af9 genes mediated by cre-loxP in mouse development.
EMBO reports
DOI: 10.1093/embo-reports/kvd021
PubMed: 11265751
08/2000

Revised nomenclature for strain 129 mice.
Mammalian genome : official journal of the International Mammalian Genome Society
DOI: 10.1007/s003359901099
PubMed: 10430671
08/1999

An essential role for Fas ligand in transplantation tolerance induced by donor bone marrow.
Nature medicine
DOI: 10.1038/nm0398-333
PubMed: 9500608
03/1998

The mouse Y chromosome: enrichment, sizing, and cloning by bivariate flow cytometry.
Genomics
DOI: 10.1006/geno.1997.5176
PubMed: 9545635
03/1998

Mutant mice and neuroscience: recommendations concerning genetic background. Banbury Conference on genetic background in mice.
Neuron
PubMed: 9354323
10/1997

An expanded collection of mouse Y chromosome RDA clones.
Mammalian genome : official journal of the International Mammalian Genome Society
DOI: 10.1007/s003359900486
PubMed: 9195997
07/1997

Impaired fertility in mice deficient for the testicular germ-cell protease PC4.
Proceedings of the National Academy of Sciences of the United States of America
DOI: 10.1073/pnas.94.13.6842
PubMed: 9192653
06/1997

Genetic variation among 129 substrains and its importance for targeted mutagenesis in mice.
Nature genetics
DOI: 10.1038/ng0597-19
PubMed: 9140391
05/1997

Expression of hygR in transgenic mice causes resistance to toxic effects of hygromycin B in vivo.
The Journal of pharmacology and experimental therapeutics
PubMed: 9152410
05/1997

Mice lacking mitochondrial uncoupling protein are cold-sensitive but not obese.
Nature
DOI: 10.1038/387090a0
PubMed: 9139827
05/1997

Intron/exon structure confirms that mouse Zfy1 and Zfy2 are members of the ZFY gene family.
Genomics
DOI: 10.1006/geno.1997.4611
PubMed: 9126493
04/1997

B7-1 and B7-2 have overlapping, critical roles in immunoglobulin class switching and germinal center formation.
Immunity
DOI: 10.1016/s1074-7613(00)80333-7
PubMed: 9075931
03/1997

Mouse Y-specific repeats isolated by whole chromosome representational difference analysis.
Genomics
DOI: 10.1006/geno.1996.0473
PubMed: 8812464
09/1996

Frequencies of cystic fibrosis mutations in the Maine population: high proportion of unknown alleles in individuals of French-Canadian ancestry.
Human genetics
DOI: 10.1007/s004390050192
PubMed: 8698344
08/1996

Mammalian Genome
Encyclopedia of Molecular Biology and Molecular Medicine
1996

Linkage mapping of the gene for the LIM-homeoprotein LIM3 (locus Lhx3) to mouse chromosome 2.
Mammalian genome : official journal of the International Mammalian Genome Society
DOI: 10.1007/bf00539012
PubMed: 8597642
11/1995

Transgenic mice for the preparation of hygromycin-resistant primary embryonic fibroblast feeder layers for embryonic stem cell selections.
Nucleic acids research
DOI: 10.1093/nar/23.7.1273
PubMed: 7739908
04/1995

Chromosomal assignment of the genes for proprotein convertases PC4, PC5, and PACE 4 in mouse and human.
Genomics
DOI: 10.1016/0888-7543(95)80090-9
PubMed: 7782070
03/1995

Characterization of the murine Zfy1 and Zfy2 promoters.
Genomics
DOI: 10.1006/geno.1994.1641
PubMed: 7698773
11/1994

Expression of a mouse Zfy-1/lacZ transgene in the somatic cells of the embryonic gonad and germ cells of the adult testis.
Development (Cambridge, England)
PubMed: 8050362
06/1994

Book Review: Molecular Genetics of Sex Determination
1994

An interstitial deletion in mouse Y chromosomal DNA created a transcribed Zfy fusion gene.
Genomics
DOI: 10.1016/0888-7543(91)90067-o
PubMed: 1774064
11/1991

Chromosomal localization of ZFX--a human gene that escapes X inactivation--and its murine homologs.
Genomics
DOI: 10.1016/0888-7543(90)90516-w
PubMed: 1970799
05/1990

Mouse Zfx protein is similar to Zfy-2: each contains an acidic activating domain and 13 zinc fingers.
Molecular and cellular biology
DOI: 10.1128/mcb.10.2.681
PubMed: 2105457
02/1990

The sex-determining function of the human Y Chromosome
Biotechnology and Human Genetic Predisposition to Disease
1990

The sex-determining region of the human Y chromosome encodes a finger protein.
Cell
DOI: 10.1016/0092-8674(87)90595-2
PubMed: 3690661
12/1987

Isolation and characterization of temperature-sensitive RNA polymerase II mutants of Saccharomyces cerevisiae.
Molecular and cellular biology
DOI: 10.1128/mcb.7.6.2155
PubMed: 3299061
06/1987

Complete sequence of three alpha-tubulin cDNAs in Chinese hamster ovary cells: each encodes a distinct alpha-tubulin isoprotein.
Molecular and cellular biology
DOI: 10.1128/mcb.6.3.906
PubMed: 3773896
03/1986

Cloning of 11 alpha-tubulin gene sequences from the genome of Chinese hamster ovary cells.
Canadian journal of biochemistry and cell biology = Revue canadienne de biochimie et biologie cellulaire
PubMed: 2931165
06/1985

Differential expression of three alpha-tubulin genes in Chinese hamster ovary cells.
Molecular and cellular biology
DOI: 10.1128/mcb.5.1.236
PubMed: 3982416
01/1985

The a-tubulin gene family of Chinese Hamster Ovary Cells
1985

Selection and characterization of Chinese hamster ovary cell mutants resistant to melphalan (L-phenylalanine mustard).
Cancer research
PubMed: 7448783
02/1981

Selection and characterization of Chinese Hamster Ovary Cell mutants resistant to Melphalan
1980