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TGFbeta2 knockout mice have multiple developmental defects that are non-overlapping with other TGFbeta knockout phenotypes.
Targeted disruption of the TGFbeta2 gene was undertaken to determine its essential role in vivo to exhibit perinatal mortality and a wide range of developmental defects for a single gene disruption.
Balance and Hearing Deficits in Mice with a Null Mutation in the Gene Encoding Plasma Membrane Ca2+-ATPase Isoform 2*
- P. Kozel, R. Friedman, +8 authors G. Shull
- Biology, MedicineThe Journal of Biological Chemistry
- 24 July 1998
It is demonstrated that PMCA2 is required for both balance and hearing and suggested that it may be a major source of the calcium used in the formation and maintenance of otoconia.
Ruffling membrane, stress fiber, cell spreading and proliferation abnormalities in human Schwannoma cells
It is demonstrated for the first time that cell proliferation and actin organization are aberrant in schwannoma cells and postulate that loss of NF2 contributes to the cell growth and cytoskeletal dysfunction reported here.
TGF β 2 knockout mice have multiple developmental defects that are non-overlapping with other TGF β knockout phenotypes
L. Philip Sanford1, Ilona Ormsby1, Adriana C. Gittenberger-de Groot2, Hannu Sariola4, Rick Friedman3, Gregory P. Boivin5, Emma Lou Cardell6 and Thomas Doetschman1,* 1Departments of Molecular…
GRM7 variants confer susceptibility to age-related hearing impairment.
- R. Friedman, L. Van Laer, +29 authors G. Van Camp
- Biology, MedicineHuman molecular genetics
- 15 February 2009
Results of the first whole genome association study for ARHI indicate that common alleles of GRM7 contribute to an individual's risk of developing ARHI, possibly through a mechanism of altered susceptibility to glutamate excitotoxicity.
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNASer(UCN) gene
The tRNASer(UCN) gene may be a "hot spot" for mutations associated with maternally transmitted hearing loss in members of a large African American family.
Intratympanic Steroid Injection for Treatment of Idiopathic Sudden Hearing Loss
- W. Slattery, L. Fisher, Z. Iqbal, R. Friedman, Nancy Liu
- MedicineOtolaryngology--head and neck surgery : official…
- 1 August 2005
Four intratympanic injections of methylprednisolone improved pure-tone average or speech discrimination scores for a subset of sudden hearing loss subjects that failed to benefit from oral steroids.
Prognostic factors for hearing preservation in vestibular schwannoma surgery.
Preoperative hearing status, ABR, and intraoperative tumor origin data were shown to be of value as prognostic indicators in patients with vestibular schwannoma undergoing middle fossa craniotomy resection.
The molecular pathology of progressive symmetric erythrokeratoderma: a frameshift mutation in the loricrin gene and perturbations in the cornified cell envelope.
- A. Ishida-Yamamoto, J. McGrath, H. Lam, H. Iizuka, R. Friedman, A. Christiano
- Biology, MedicineAmerican journal of human genetics
- 1 September 1997
Sequence determination of the loricrin gene revealed an insertion of a C following nucleotide 709 that results in a frameshift that changes the terminal 91 amino acids in the wild-type polypeptide into missense amino acids and adds 65 additional residues, which implicates loricin defects in the pathogenesis of disorders with palmoplantar keratoderma and pseudoainhum.
Evolution in the management of facial nerve schwannoma
To design a treatment algorithm based on experience with facial nerve schwannomas over a 30‐year period, patients' experience with FNS is considered as a guide.