Výsledky vyhledávání - "Jeremy C. Kallman"

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

Autor: Carol A. Robbins, Valerie A. Street, Jin Li, Jeremy C. Kallman

Publikováno v: Journal of Biological Chemistry. 286:15278-15286

Mutations within MYO7A can lead to recessive and dominant forms of inherited hearing loss. We previously identified a large pedigree (referred to as the HL2 family) with hearing loss that first impacts the low and mid frequencies segregating a domina

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b93e6661bfce0afa7ee934fbe5c7ce4
https://doi.org/10.1074/jbc.m111.228304

Zobrazit plný text záznamu

Vestibular function in families with inherited autosomal dominant hearing loss

Autor: Paul D. Strombom, Naomi F. Bramhall, James O. Phillips, Jeremy C. Kallman, Valerie A. Street

Publikováno v: Journal of Vestibular Research. 18:51-58

The inner ear contains the developmentally related cochlea and peripheral vestibular labyrinth. Given the similar physiology between these two organs, hearing loss and vestibular dysfunction may be expected to occur simultaneously in individuals segr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::93a2ee0d1905549241b96d5c158be9c9
https://doi.org/10.3233/ves-2008-18105

Zobrazit plný text záznamu

Resistance to noise-induced hearing loss in 129S6 and MOLF mice: identification of independent, overlapping, and interacting chromosomal regions

Autor: Linda C. Robinson, Karl W. Broman, Jin Li, Jeremy C. Kallman, Ayaka J. Iwata, Dustin J. Shilling, Carol A. Robbins, Sharon G. Kujawa, Valerie A. Street, Bruce L. Tempel, M. Charles Liberman, Ani Manichaikul

Publikováno v: Journal of the Association for Research in Otolaryngology : JARO. 15(5)

Noise-induced hearing loss (NIHL) is a prevalent health risk. Inbred mouse strains 129S6/SvEvTac (129S6) and MOLF/EiJ (MOLF) show strong NIHL resistance (NR) relative to CBA/CaJ (CBACa). In this study, we developed quantitative trait locus (QTL) maps

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55feed5ebdb0c08ca5700f9b80c2b209
https://pubmed.ncbi.nlm.nih.gov/24952082

Zobrazit plný text záznamu

In search of the DFNA11 myosin VIIA low- and mid-frequency auditory genetic modifier

Autor: John P. Kelly, Valerie A. Street, James O. Phillips, Naomi F. Bramhall, Jeremy C. Kallman

Publikováno v: Otologyneurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology. 29(6)

To evaluate the auditory, vestibular, and retinal characteristics of a large American DFNA11 pedigree with autosomal dominant progressive sensorineural hearing loss that first impacts the low- and mid-frequency auditory range. The pedigree (referred

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::48704ab72937e4ff62810b4b7433a39c
https://pubmed.ncbi.nlm.nih.gov/18667942

Zobrazit plný text záznamu

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

Autor: Naomi F. Bramhall, Aimee M. Verrall, Valerie A. Street, Jeremy C. Kallman

Publikováno v: BMC Medical Genetics
BMC Medical Genetics, Vol 9, Iss 1, p 48 (2008)

Background Low frequency sensorineural hearing loss (LFSNHL) is an uncommon clinical finding. Mutations within three different identified genes (DIAPH1, MYO7A, and WFS1) are known to cause LFSNHL. The majority of hereditary LFSNHL is associated with

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b1220328facefecfb8bf5f6a2ce8509f
https://pubmed.ncbi.nlm.nih.gov/18518985

Zobrazit plný text záznamu

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 central oculomotor dysfunction

Autor: Valerie A. Street, Sharon F. Kuo, Jeremy C. Kallman, Nahid G. Robertson, James O. Phillips, Cynthia C. Morton

Publikováno v: American journal of medical genetics. Part A. (2)

Mutations within the COCH gene (encoding the cochlin protein) lead to auditory and vestibular impairment in the DFNA9 disorder. In this study, we describe the genetic mapping of progressive autosomal dominant sensorineural hearing loss first affectin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a6215954ac624c61bc3378b664401062
https://pubmed.ncbi.nlm.nih.gov/16261627

Zobrazit plný text záznamu

Vyhledávací nástroje:

Upřesnit hledání