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The social value of genomic sequencing for disadvantaged families facing rare disease

Social science & medicine (1982), 2022-12, Vol.314, p.115465-115465, Article 115465

2022

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Oxidative stress, cell cycle, and neurodegeneration

The Journal of clinical investigation, 2003-03, Vol.111 (6), p.785-793

2003

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Divide and die: cell cycle events as triggers of nerve cell death

The Journal of neuroscience, 2004-10, Vol.24 (42), p.9232-9239

2004

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Protein accumulation and neurodegeneration in the woozy mutant mouse is caused by disruption of SIL1, a cochaperone of BiP

Nature genetics, 2005-09, Vol.37 (9), p.974-979

2005

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The harlequin mouse mutation down-regulates apoptosis-inducing factor

Nature (London), 2002-09, Vol.419 (6905), p.367-374

2002

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Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition

Human molecular genetics, 2001-03, Vol.10 (5), p.433-443

2001

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The Netrin 1 Receptors Unc5h3 and Dcc Are Necessary at Multiple Choice Points for the Guidance of Corticospinal Tract Axons

The Journal of neuroscience, 2002-12, Vol.22 (23), p.10346-10356

2002

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Vertebrate homologues of C. elegans UNC-5 are candidate netrin receptors

Nature (London), 1997-04, Vol.386 (6627), p.833-838

1997

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Ducky Mouse Phenotype of Epilepsy and Ataxia Is Associated with Mutations in the Cacna2d2 Gene and Decreased Calcium Channel Current in Cerebellar Purkinje Cells

The Journal of neuroscience, 2001-08, Vol.21 (16), p.6095-6104

2001

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Dorsally derived netrin 1 provides an inhibitory cue and elaborates the `waiting period' for primary sensory axons in the developing spinal cord

Development (Cambridge), 2006-04, Vol.133 (7), p.1379-1387

2006

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Downregulation of Apoptosis-Inducing Factor in Harlequin Mutant Mice Sensitizes the Myocardium to Oxidative Stress–Related Cell Death and Pressure Overload–Induced Decompensation

Circulation research, 2005-06, Vol.96 (12), p.e92-e101

2005

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Phosphatidylinositol transfer protein-α in netrin-1-induced PLC signalling and neurite outgrowth

Nature cell biology, 2005-11, Vol.7 (11), p.1124-1132

2005

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In Vivo Magnetic Resonance Imaging and Semiautomated Image Analysis Extend the Brain Phenotype for cdf/cdf Mice

The Journal of neuroscience, 2006-04, Vol.26 (17), p.4455-4459

2006

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Netrin 1-mediated chemoattraction regulates the migratory pathway of LHRH neurons

The European journal of neuroscience, 2004-01, Vol.19 (1), p.11-20

2004

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Deletion in Catna2 , encoding αN-catenin, causes cerebellar and hippocampal lamination defects and impaired startle modulation

Nature genetics, 2002-07, Vol.31 (3), p.279-284

2002

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The mouse rostral cerebellar malformation gene encodes an UNC-5-like protein

Nature (London), 1997-04, Vol.386 (6627), p.838-842

1997

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Effect of alcaftadine 0.25% on ocular itch associated with seasonal or perennial allergic conjunctivitis: a pooled analysis of two multicenter randomized clinical trials

Clinical ophthalmology (Auckland, N.Z.), 2015-01, Vol.9 (default), p.765-772

2015

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Embryonic phenotype of Unc5h3 mutant mice suggests chemorepulsion during the formation of the rostral cerebellar boundary

Development (Cambridge), 1998-01, Vol.125 (1), p.41-50

1998

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Abnormal dispersion of a purkinje cell subset in the mouse mutant cerebellar deficient folia (cdf)

Journal of comparative neurology (1911), 2001-07, Vol.436 (1), p.42-51

2001

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Granule Cells and Cerebellar Boundaries: Analysis of Unc5h3 Mutant Chimeras

The Journal of neuroscience, 2000-06, Vol.20 (11), p.4129-4137

2000

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New member of the Snf1/AMPK kinase family, Melk, is expressed in the mouse egg and preimplantation embryo

Molecular reproduction and development, 1997-06, Vol.47 (2), p.148-156

1997

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Preparation and Screening of an Arrayed Human Genomic Library Generated with the P1 Cloning System

Proceedings of the National Academy of Sciences - PNAS, 1994-03, Vol.91 (7), p.2629-2633

1994

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Genomewide two-generation screens for recessive mutations by ES cell mutagenesis

Mammalian genome, 2004-12, Vol.15 (12), p.960-965

2004

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Mouse models for the Wolf-Hirschhorn deletion syndrome

Human molecular genetics, 2001-01, Vol.10 (2), p.91-98

2001

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The cerebellar deficient folia (cdf) gene acts intrinsically in Purkinje cell migrations

Genesis (New York, N.Y. : 2000), 2002-01, Vol.32 (1), p.32-41

2002

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The social value of genomic sequencing for disadvantaged families facing rare disease

Oxidative stress, cell cycle, and neurodegeneration

Divide and die: cell cycle events as triggers of nerve cell death

Protein accumulation and neurodegeneration in the woozy mutant mouse is caused by disruption of SIL1, a cochaperone of BiP

The harlequin mouse mutation down-regulates apoptosis-inducing factor

Mice deficient in methylenetetrahydrofolate reductase exhibit hyperhomocysteinemia and decreased methylation capacity, with neuropathology and aortic lipid deposition

The Netrin 1 Receptors Unc5h3 and Dcc Are Necessary at Multiple Choice Points for the Guidance of Corticospinal Tract Axons

Vertebrate homologues of C. elegans UNC-5 are candidate netrin receptors

Ducky Mouse Phenotype of Epilepsy and Ataxia Is Associated with Mutations in the Cacna2d2 Gene and Decreased Calcium Channel Current in Cerebellar Purkinje Cells

Dorsally derived netrin 1 provides an inhibitory cue and elaborates the `waiting period' for primary sensory axons in the developing spinal cord

Downregulation of Apoptosis-Inducing Factor in Harlequin Mutant Mice Sensitizes the Myocardium to Oxidative Stress–Related Cell Death and Pressure Overload–Induced Decompensation

Phosphatidylinositol transfer protein-α in netrin-1-induced PLC signalling and neurite outgrowth

In Vivo Magnetic Resonance Imaging and Semiautomated Image Analysis Extend the Brain Phenotype for cdf/cdf Mice

Netrin 1-mediated chemoattraction regulates the migratory pathway of LHRH neurons

Deletion in Catna2 , encoding αN-catenin, causes cerebellar and hippocampal lamination defects and impaired startle modulation

The mouse rostral cerebellar malformation gene encodes an UNC-5-like protein

Effect of alcaftadine 0.25% on ocular itch associated with seasonal or perennial allergic conjunctivitis: a pooled analysis of two multicenter randomized clinical trials

Embryonic phenotype of Unc5h3 mutant mice suggests chemorepulsion during the formation of the rostral cerebellar boundary

Abnormal dispersion of a purkinje cell subset in the mouse mutant cerebellar deficient folia (cdf)

Granule Cells and Cerebellar Boundaries: Analysis of Unc5h3 Mutant Chimeras

New member of the Snf1/AMPK kinase family, Melk, is expressed in the mouse egg and preimplantation embryo

Preparation and Screening of an Arrayed Human Genomic Library Generated with the P1 Cloning System

Genomewide two-generation screens for recessive mutations by ES cell mutagenesis

Mouse models for the Wolf-Hirschhorn deletion syndrome

The cerebellar deficient folia (cdf) gene acts intrinsically in Purkinje cell migrations

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