Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice

Valerie A. Street, Jennifer W. McKee-Johnson, Rosalia C. Fonseca, +2

Nature Genetics

Molecular NeuroscienceMolecular PhysiologySignal TransductionPhysiologyDeafwaddler Mice +5

The Type 1 Inositol 1,4,5-Trisphosphate Receptor Gene Is Altered in the<i>opisthotonos</i>Mouse

Valerie A. Street, Martha M. Bosma, Vasiliki Demas, +5

Journal of Neuroscience

GeneticsNeurotransmissionOptogeneticsSynaptic SignalingCellular Physiology +18

SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve

Craig L. Bennett, Andrew J. Shirk, Huy M. Huynh, +17

Annals of Neurology

Peripheral NeuropathyMendelian DisorderNeurological DisorderNeuroanatomyGenetics +13

A novel <i>DFNA9</i> mutation in the vWFA2 domain of <i>COCH</i> alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site‐specific vestibular and central oculomotor dysfunction

Valerie A. Street, Jeremy C. Kallman, Nahid G. Robertson, +3

American Journal of Medical Genetics Part A

Mapping of Charcot-Marie-Tooth Disease Type 1C to Chromosome 16p Identifies a Novel Locus for Demyelinating Neuropathies

Valerie A. Street, Jeff Goldy, Alana S. Golden, +3

The American Journal of Human Genetics

Neurodegenerative DiseasesMendelian DisorderNeurological DisorderGeneticsExperimental Neuropathology +8

Voltage-Gated Potassium Channel Genes Are Clustered in Paralogous Regions of the Mouse Genome

Leslie F. Lock, Debra J. Gilbert, Valerie A. Street, +4

Genomics

ChannelopathiesSystems BiologyMolecular PhysiologySignal TransductionHyperpolarization (Biology) +9

Molecular Genetic Analysis of Distal Mouse Chromosome 6 Defines Gene Order and Positions of the deafwaddler and opisthotonos Mutations

Valerie A. Street, Linda C. Robinson, Shelly K. Erford, +1

Genomics

BiologyKnockout MouseCytogeneticsMedicineGenetics +8

A novel WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findings

Naomi F. Bramhall, Jeremy C. Kallman, Aimee M. Verrall, +1

BMC Medical Genetics

A DNA Variant within the MYO7A Promoter Regulates YY1 Transcription Factor Binding and Gene Expression Serving as a Potential Dominant DFNA11 Auditory Genetic Modifier

Valerie A. Street, Jin Li, Carol A. Robbins, +1

Journal of Biological Chemistry

Resistance to Noise-Induced Hearing Loss in 129S6 and MOLF Mice: Identification of Independent, Overlapping, and Interacting Chromosomal Regions

Valerie A. Street, Sharon G. Kujawa, Ani Manichaikul, +9

Journal of the Association for Research in Otolaryngology

BiologyKnockout MouseGeneticsMolf MiceAudiology +10