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The Type 1 Inositol 1,4,5-Trisphosphate Receptor Gene Is Altered in the opisthotonos Mouse
TLDR
The genetic and molecular data presented here demonstrate that the type 1 inositol 1,4,5-trisphosphate receptor (IP3R1) protein, which serves as an IP3-gated channel to release calcium from intracellular stores, is altered in the optmutant, suggesting that the convulsions and ataxia observed in opt mice may be caused by the physiological dysregulation of a functional IP3R 1 protein. Expand
Mutations in a plasma membrane Ca2+-ATPase gene cause deafness in deafwaddler mice
TLDR
These mutations affecting Atp2b2 in dfw and dfw2J are the first to be found in a mammalian plasma membrane calcium pump and define a new class of deafness genes that directly affect hair-cell physiology. Expand
SIMPLE mutation in demyelinating neuropathy and distribution in sciatic nerve
TLDR
The clustering of the G112S, T115N, and W116G mutations within five amino acids suggests this domain may be critical to peripheral nerve myelination, and the expression of SIMPLE is reported in various cell types of the sciatic nerve, including Schwann cells, the affected cell type in CMT1C. Expand
Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C
TLDR
Mutations in LITAF may account for a significant proportion of CMT1 patients with previously unknown molecular diagnosis and may define a new mechanism of peripheral nerve perturbation leading to demyelinating neuropathy. Expand
A novel DFNA9 mutation in the vWFA2 domain of COCH alters a conserved cysteine residue and intrachain disulfide bond formation resulting in progressive hearing loss and site‐specific vestibular and
TLDR
The genetic mapping of progressive autosomal dominant sensorineural hearing loss first affecting high‐frequency auditory thresholds within a human pedigree to the long arm of chromosome 14 in band q12 is described. Expand
Modifier controls severity of a novel dominant low-frequency MyosinVIIA (MYO7A) auditory mutation
TLDR
Large pedigrees with monogenic non-syndromic hearing impairment have allowed genetic mapping of at least 80 chromosomal locations harbouring auditory-related deafness ( DFN ) loci with the identification of over 30 DFN genes. Expand
Physical and genetic maps of the deafwaddler region on distal mouse Chr 6.
TLDR
A high-resolution genetic map was generated by positioning 10 microsatellite markers and 5 known genes on a 968-meioses intersubspecific backcross segregating for dfw, suggesting that the human homologue of the dfw gene is located within this same region. Expand
Voltage-gated potassium channel genes are clustered in paralogous regions of the mouse genome.
TLDR
The genetic mapping of 12-16 different murine, voltage-gated K channel genes suggests that the K channel gene subfamilies arose through ancient localized gene duplication events, followed by chromosomal duplications and rearrangements as well as further gene duplication. Expand
Charcot–Marie–Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes
TLDR
These new mutations in the myelin P0 and connexin 32 genes help to clarify the pathophysiology of the clinical Charcot-Marie-Tooth syndrome and are part of the differential diagnosis of that phenomenon. Expand
Vestibular function in families with inherited autosomal dominant hearing loss.
TLDR
An example of a family with progressive hearing loss and clinically-detected vestibular hypofunction that does not report Vestibular symptoms is described in this review, and one member of the HL1 family with clinically- Detected vestIBular hyp ofunction reached the summit of Mount Kilimanjaro. Expand
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