LOXHD1 by Sarah Harden https://padlet.com/slharden95/beckyandsarah en-us 2016-02-26 10:45:35 UTC 2024-10-16 06:56:29 UTC hello@padlet.com http://s3.medel.com/images/triformance/tonotopic-principal-of-the-cochlea.jpg 18q21.1 https://padlet.com/slharden95/beckyandsarah/wish/97503189 2016-02-26 10:54:15 UTC https://padlet.com/slharden95/beckyandsarah/wish/97503189 slharden95 https://padlet.com/slharden95/beckyandsarah/wish/97503808 A form of non-syndromic deafness characterized by preserved low-frequency hearing.

Mild to moderate mid-frequency and high-frequency hearing loss during childhood and adolescence. 

Hearing loss progresses to become moderate to severe at mid and high frequencies during adulthood.]]> 2016-02-26 10:59:55 UTC https://padlet.com/slharden95/beckyandsarah/wish/97503808 Methodology slharden95 https://padlet.com/slharden95/beckyandsarah/wish/97504117 Bi-directional Sanger Sequence Analysis
  • Applied Biosystems 3730 capillary sequencing instrument
Next-Generation (NGS)/Massively parallel sequencing (MPS)
  • Illumina HiSeq™2000 system
]]> 2016-02-26 11:02:29 UTC https://padlet.com/slharden95/beckyandsarah/wish/97504117 https://padlet.com/slharden95/beckyandsarah/wish/97504224 "Nonsense mutation in LOXHD1 is predicted to introduce a premature stop codon" (Grillet et al., 2009)
Leads to ARNSHL]]> 2016-02-26 11:03:41 UTC https://padlet.com/slharden95/beckyandsarah/wish/97504224 Mutation in the lipoxygenase homology domains-containing 1 gene https://padlet.com/slharden95/beckyandsarah/wish/97504392 2016-02-26 11:05:19 UTC https://padlet.com/slharden95/beckyandsarah/wish/97504392 https://padlet.com/slharden95/beckyandsarah/wish/97504873 ARNSHL = autosomal recessive non-syndomic hearing loss]]> 2016-02-26 11:09:35 UTC https://padlet.com/slharden95/beckyandsarah/wish/97504873 https://padlet.com/slharden95/beckyandsarah/wish/97505056 Effects calcium channel activity (Gene Cards, 2016)]]> 2016-02-26 11:11:26 UTC https://padlet.com/slharden95/beckyandsarah/wish/97505056 loxhd1 expression in tissues https://padlet.com/slharden95/beckyandsarah/wish/97505798 2016-02-26 11:17:06 UTC https://padlet.com/slharden95/beckyandsarah/wish/97505798 Animal Models https://padlet.com/slharden95/beckyandsarah/wish/97506056 2016-02-26 11:19:08 UTC https://padlet.com/slharden95/beckyandsarah/wish/97506056 https://padlet.com/slharden95/beckyandsarah/wish/97506269 2016-02-26 11:20:30 UTC https://padlet.com/slharden95/beckyandsarah/wish/97506269 https://padlet.com/slharden95/beckyandsarah/wish/97507699 2016-02-26 11:29:51 UTC https://padlet.com/slharden95/beckyandsarah/wish/97507699 https://padlet.com/slharden95/beckyandsarah/wish/97508826 the mutation leads to different auditory phenotypes in humans and mice. This shows that the protein may have different effects across species.]]> 2016-02-26 11:36:57 UTC https://padlet.com/slharden95/beckyandsarah/wish/97508826 https://padlet.com/slharden95/beckyandsarah/wish/97509551 LoxHD1 may link the plasma membrane to F actin cytoskeleton]]> 2016-02-26 11:41:43 UTC https://padlet.com/slharden95/beckyandsarah/wish/97509551 https://padlet.com/slharden95/beckyandsarah/wish/97511952 2016-02-26 11:55:04 UTC https://padlet.com/slharden95/beckyandsarah/wish/97511952