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A holistic view of mouse enhancer architectures reveals analogous pleiotropic effects and correlation with human disease.
- Published in:
- BMC Genomics, 2020, v. 21, n. 1, p. 1, doi. 10.1186/s12864-020-07109-5
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- Publication type:
- Article
Human-specific gene CT47 blocks PRMT5 degradation to lead to meiosis arrest.
- Published in:
- Cell Death Discovery, 2022, v. 8, n. 1, p. 1, doi. 10.1038/s41420-022-01139-6
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- Publication type:
- Article
Analysis of genome-wide knockout mouse database identifies candidate ciliopathy genes.
- Published in:
- Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-19710-7
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- Publication type:
- Article
EuroPhenome: a repository for high-throughput mouse phenotyping data.
- Published in:
- Nucleic Acids Research, 2010, v. 38, p. D577, doi. 10.1093/nar/gkp1007
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- Publication type:
- Article
MouseBook: an integrated portal of mouse resources.
- Published in:
- Nucleic Acids Research, 2010, v. 38, p. D593, doi. 10.1093/nar/gkp867
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- Publication type:
- Article
PRIME importance of pathology expertise.
- Published in:
- 2009
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- Publication type:
- Letter
Dynein mutations impair autophagic clearance of aggregate-prone proteins.
- Published in:
- Nature Genetics, 2005, v. 37, n. 7, p. 771, doi. 10.1038/ng1591
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- Publication type:
- Article
Myringotomy in the Junbo mouse model of chronic otitis media alleviates inflammation and cellular hypoxia.
- Published in:
- Laryngoscope, 2014, v. 124, n. 9, p. E377, doi. 10.1002/lary.24698
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- Publication type:
- Article
Corrigendum: Comparative visualization of genotype-phenotype relationships.
- Published in:
- Nature Methods, 2015, v. 12, n. 11, p. 1098, doi. 10.1038/nmeth1115-1098c
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- Publication type:
- Article
Comparative visualization of genotype-phenotype relationships.
- Published in:
- Nature Methods, 2015, v. 12, n. 8, p. 698, doi. 10.1038/nmeth.3477
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- Publication type:
- Article
A mutation in Nischarin causes otitis media via LIMK1 and NF-κB pathways.
- Published in:
- PLoS Genetics, 2017, v. 13, n. 8, p. 1, doi. 10.1371/journal.pgen.1006969
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- Publication type:
- Article
N-ethyl-N-Nitrosourea (ENU) Induced Mutations within the Klotho Gene Lead to Ectopic Calcification and Reduced Lifespan in Mouse Models.
- Published in:
- PLoS ONE, 2015, v. 10, n. 4, p. 1, doi. 10.1371/journal.pone.0122650
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- Publication type:
- Article
Reducing <i>Igf-1r</i> Levels Leads To Paradoxical and Sexually Dimorphic Effects in HD Mice.
- Published in:
- PLoS ONE, 2014, v. 9, n. 8, p. 1, doi. 10.1371/journal.pone.0105595
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- Publication type:
- Article
The Actin-Binding Proteins Eps8 and Gelsolin Have Complementary Roles in Regulating the Growth and Stability of Mechanosensory Hair Bundles of Mammalian Cochlear Outer Hair Cells.
- Published in:
- PLoS ONE, 2014, v. 9, n. 1, p. 1, doi. 10.1371/journal.pone.0087331
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- Publication type:
- Article
Autosomal Dominant Hypercalciuria in a Mouse Model Due to a Mutation of the Epithelial Calcium Channel, TRPV5.
- Published in:
- PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0055412
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- Publication type:
- Article
A Mouse Model of Early-Onset Renal Failure Due to a Xanthine Dehydrogenase Nonsense Mutation.
- Published in:
- PLoS ONE, 2012, v. 7, n. 9, p. 1, doi. 10.1371/journal.pone.0045217
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- Publication type:
- Article
A Mouse with an N-Ethyl- N-Nitrosourea (ENU) Induced Trp589Arg Galnt3Mutation Represents a Model for Hyperphosphataemic Familial Tumoural Calcinosis.
- Published in:
- PLoS ONE, 2012, v. 7, n. 8, p. 1, doi. 10.1371/journal.pone.0043205
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- Publication type:
- Article
Gelsolin Plays a Role in the Actin Polymerization Complex of Hair Cell Stereocilia.
- Published in:
- PLoS ONE, 2010, v. 5, n. 7, p. 1, doi. 10.1371/journal.pone.0011627
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- Publication type:
- Article
Quiet as a mouse: dissecting the molecular and genetic basis of hearing.
- Published in:
- Nature Reviews Genetics, 2008, v. 9, n. 4, p. 277, doi. 10.1038/nrg2309
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- Publication type:
- Article
Silvia Garagna (ed) Mouse genetics after the mouse genome. Karger, ISBN 3-805-57783-4, hardcover.
- Published in:
- 2005
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- Publication type:
- Book Review
Characterization of Usher syndrome type I gene mutations in an Usher syndrome patient population.
- Published in:
- Human Genetics, 2005, v. 116, n. 4, p. 292, doi. 10.1007/s00439-004-1227-2
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- Publication type:
- Article
Modification of an aggressive model of Alport Syndrome reveals early differences in disease pathogenesis due to genetic background.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-56837-6
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- Publication type:
- Article
The Jeff Mouse Mutant Model for Chronic Otitis Media Manifests Gain-of-Function as Well as Loss-of-Function Effects.
- Published in:
- Frontiers in Genetics, 2020, v. 11, p. 1, doi. 10.3389/fgene.2020.00498
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- Publication type:
- Article
CIB2 interacts with TMC1 and TMC2 and is essential for mechanotransduction in auditory hair cells.
- Published in:
- Nature Communications, 2017, v. 8, n. 6, p. 1, doi. 10.1038/s41467-017-00061-1
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- Publication type:
- Article
Multivariate phenotype analysis enables genome-wide inference of mammalian gene function.
- Published in:
- PLoS Biology, 2022, v. 20, n. 8, p. 1, doi. 10.1371/journal.pbio.3001723
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- Publication type:
- Article
The deaf mouse mutant Jeff (Jf) is a single gene model of otitis media.
- Published in:
- 2003
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- Publication type:
- journal article
Advances in mouse genetics for the study of human disease.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 20, p. R274, doi. 10.1093/hmg/ddab153
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- Publication type:
- Article
Genetic landscape of auditory dysfunction.
- Published in:
- Human Molecular Genetics, 2018, v. 27, p. R130, doi. 10.1093/hmg/ddy158
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- Publication type:
- Article
A genetic modifier suggests that endurance exercise exacerbates Huntington's disease.
- Published in:
- Human Molecular Genetics, 2018, v. 27, n. 10, p. 1723, doi. 10.1093/hmg/ddy077
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- Publication type:
- Article
A novel stereocilia defect in sensory hair cells of the deaf mouse mutant Tasmanian devil.
- Published in:
- European Journal of Neuroscience, 2002, v. 16, n. 8, p. 1433, doi. 10.1046/j.1460-9568.2002.02213.x
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- Publication type:
- Article
Mice with an N-Ethyl-N-Nitrosourea (ENU) Induced Tyr209Asn Mutation in Natriuretic Peptide Receptor 3 (NPR3) Provide a Model for Kyphosis Associated with Activation of the MAPK Signaling Pathway.
- Published in:
- PLoS ONE, 2016, v. 11, n. 12, p. 1, doi. 10.1371/journal.pone.0167916
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- Publication type:
- Article
Regulatory Variation at Glypican-3 Underlies a Major Growth QTL in Mice.
- Published in:
- PLoS Biology, 2005, v. 3, n. 5, p. 872, doi. 10.1371/journal.pbio.0030135
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- Publication type:
- Article
Regulatory Variation at Glypican-3 Underlies a Major Growth QTL in Mice.
- Published in:
- PLoS Biology, 2005, v. 3, n. 4, p. 1, doi. 10.1371/journal.pbio.0030135
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- Publication type:
- Article
Introduction to Mammalian Genome Special Issue: Mammalian Genetic Resources.
- Published in:
- 2022
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- Publication type:
- Editorial
INFRAFRONTIER quality principles in systemic phenotyping.
- Published in:
- Mammalian Genome, 2022, v. 33, n. 1, p. 120, doi. 10.1007/s00335-021-09892-2
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- Publication type:
- Article
Precision and Functional Genomics.
- Published in:
- 2020
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- Publication type:
- Editorial
The dark genome and pleiotropy: challenges for precision medicine.
- Published in:
- Mammalian Genome, 2019, v. 30, n. 7/8, p. 212, doi. 10.1007/s00335-019-09813-4
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- Publication type:
- Article
Precision medicine and Mammalian Genome.
- Published in:
- 2019
- By:
- Publication type:
- Editorial
Surveying the Down syndrome mouse model resource identifies critical regions responsible for chronic otitis media.
- Published in:
- Mammalian Genome, 2013, v. 24, n. 11/12, p. 439, doi. 10.1007/s00335-013-9475-x
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- Publication type:
- Article
Introduction.
- Published in:
- 2011
- By:
- Publication type:
- Editorial
Unraveling the genetics of otitis media: from mouse to human and back again.
- Published in:
- Mammalian Genome, 2011, v. 22, n. 1/2, p. 66, doi. 10.1007/s00335-010-9295-1
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- Publication type:
- Article
Gene-environment interactions differentially affect mouse strain behavioral parameters.
- Published in:
- Mammalian Genome, 2006, v. 17, n. 11, p. 1113, doi. 10.1007/s00335-006-0075-x
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- Publication type:
- Article
A major locus conferring susceptibility to infection by Streptococcus pneumoniae in mice.
- Published in:
- Mammalian Genome, 2003, v. 14, n. 7, p. 448, doi. 10.1007/s00335-002-2261-9
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- Publication type:
- Article
Genomics meets genetics: towards a mutant map of the mouse.
- Published in:
- Mammalian Genome, 2000, v. 11, n. 7, p. 472, doi. 10.1007/s003350010092
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- Publication type:
- Article
Loss of Baiap2l2 destabilizes the transducing stereocilia of cochlear hair cells and leads to deafness.
- Published in:
- Journal of Physiology, 2021, v. 599, n. 4, p. 1173, doi. 10.1113/JP280670
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- Publication type:
- Article
Biophysical and morphological changes in inner hair cells and their efferent innervation in the ageing mouse cochlea.
- Published in:
- Journal of Physiology, 2021, v. 599, n. 1, p. 269, doi. 10.1113/JP280256
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- Publication type:
- Article
Pathophysiological changes in inner hair cell ribbon synapses in the ageing mammalian cochlea.
- Published in:
- Journal of Physiology, 2020, v. 598, n. 19, p. 4339, doi. 10.1113/JP280018
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- Publication type:
- Article
Age‐related changes in the biophysical and morphological characteristics of mouse cochlear outer hair cells.
- Published in:
- Journal of Physiology, 2020, v. 598, n. 18, p. 3891, doi. 10.1113/JP279795
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- Publication type:
- Article
Genome-wide screening reveals the genetic basis of mammalian embryonic eye development.
- Published in:
- BMC Biology, 2023, p. 1, doi. 10.1186/s12915-022-01475-0
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- Publication type:
- Article
Unlocking the Bottleneck in Forward Genetics Using Whole-Genome Sequencing and Identity by Descent to Isolate Causative Mutations.
- Published in:
- PLoS Genetics, 2013, v. 9, n. 1, p. 1, doi. 10.1371/journal.pgen.1003219
- By:
- Publication type:
- Article