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Achromatopsia (ACHM) is an autosomal recessive disorder characterized by color blindness, photophobia, nystagmus and severely reduced visual acuity. Using homozygosity mapping and whole exome and candidate gene sequencing, we identified ten families carrying six homozygous and two compound heterozygous mutations in the ATF6 gene (encoding activating transcription factor 6A), a key regulator of the unfolded protein response (UPR) and cellular endoplasmic oakley sunglasses reticulum (ER) homeostasis. Patients had evidence of foveal hypoplasia and disruption of the cone photoreceptor layer. The ACHM associated ATF6 mutations attenuate ATF6 transcriptional activity in response to ER stress. Atf6 mice have normal retinal morphology Cheap NFL Jerseys and function at a young age ray bans sale but develop rod and cone dysfunction with increasing age. This new ACHM related gene suggests a crucial and unexpected role for ATF6A in human foveal development and cone function and adds to the list of genes that, despite ubiquitous expression, when mutated can result in an isolated retinal photoreceptor phenotype.Little Big Town wins big Recording artists cheap football jerseys Philip Sweet, Karen Fairchild, Kimberly Schlapman and Jimi Westbrook of music group Little Big Town accept the Vocal Group of the Year award onstage during the 51st Academy of Country Music Awards at MGM Grand Garden Arena on April 3, 2016 in Las Vegas.Tatum’s collision with Stingley came in a pre season “exhibition” game in Oakland in August 1978. Stingley, a wide receiver for New England Patriots, was cutting across the middle of the field, looking back for the pass from his quarterback. Tatum, the Oakland Raiders’ safety, was approaching from behind him, the situation when his reputation would cause many players to “hear footsteps”. The pass was cheap nfl jerseys high and slightly behind Stingley, who contorted himself in mid air; as the cheap oakleys ball passed by, Tatum launched himself and met Stingley’s neck with his shoulder pads. Stingley crumpled to the ground, two vertebrae severed. Stingley retained movement only in one hand; he would be confined to a wheelchair for the rest of his life.The Colts built led 13 0 in the second quarter after two field goals by Adam En Vinatieri and a touchdown catch by Jack Doyle. Osweiler and Houston’s offense struggled to get going and early and Osweiler had negative 9 yards passing in the first quarter. The Texans cut it to 13 3 at halftime on Novak’s 27 yard field goal.Boston Celtics drop thriller to Houston Rockets: The Celtics, taking on the uptempo Houston Rockets, lost in gut wrenching fashion behind two missed lay ups and a controversial decision by referees. Avery Bradley drilled cheap ray bans a shot that appeared to be a three pointer, and both Isaiah Thomas and Al Horford missed last minute lay ups, but it also appears as oakley outlet though Boston was having communication issues at the close of the game. (MassLive)
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