Identification of Novel Mutations in Chinese Hans with Autosomal Dominant Polycystic Kidney Disease.

Abstract

ABSTRACT:

BACKGROUND:

Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited renal disease with an incidence of 1 in 400 to 1000. The disease is genetically heterogeneous, with two genes identified: PKD1 (16p13.3) and PKD2 (4q21). Molecular diagnosis of the disease in at-risk individuals is complicated due to the structural complexity of PKD1 gene and the high diversity of the mutations. This study is the first systematic ADPKD mutation analysis of both PKD1 and PKD2 genes in Chinese patients using denaturing high-performance liquid chromatography (DHPLC).

METHODS:

Both PKD1 and PKD2 genes were mutation screened in each proband from 65 families using DHPLC followed by DNA sequencing. Novel variations found in the probands were checked in their family members available and 100 unrelated normal controls. Then the pathogenic potential of the variations of unknown significance was examined by evolutionary comparison, effects of amino acid substitutions on protein structure, and effects of splice site alterations using online mutation prediction resources.

RESULTS:

A total of 92 variations were identified, including 27 reported previously. Definitely pathogenic mutations (ten frameshift, ten nonsense, two splicing defects and one duplication) were identified in 28 families, and probably pathogenic mutations were found in an additional six families, giving a total detection level of 52.3% (34/65). About 69% (20/29) of the mutations are first reported with a recurrent mutation rate of 31%.

CONCLUSIONS:

Mutation study of PKD1 and PKD2 genes in Chinese Hans with ADPKD may contribute to a better understanding of the genetic diversity between different ethnic groups and enrich the mutation database. Besides, evaluating the pathogenic potential of novel variations should also facilitate the clinical diagnosis and genetic counseling of the disease.

Source: http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?tmpl=NoSidebarfile&db=PubMed&cmd=Retrieve&list_uids=22185115&dopt=Abstract

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Van Halen unveils new tour with Roth aboard

Veteran rockers Van Halen unveiled plans on Monday for a tour with original lead singer David Lee Roth returning to the stage.

In a video posted on the band's website, http://www.van-halen.com, Eddie Van Halen, brother Alex and son Wolfgang play the hit "Panama" while Roth runs around on stage. Underneath reads "Van Halen On Tour 2012" with tickets going on sale January 10.

Story: Hopes for Van Halen reunion dashed, at least for now

No other details were announced, but the video confirms music industry buzz that the band is together again with Roth. An album is said to be in the works, too, after Van Halen signed a record deal in November.

A separate posting on the Van Halen News Desk website said the video was shot at the Roxy Theatre along Los Angeles' Sunset Strip while the band performed "a brand-new song."

The news site speculated about a possible February release date for a new song or album, and said the record was produced by Ross Hogarth. It is the band's first full album with Roth since the CD "1984," which was released on December 31, 1983.

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Van Halen's relationship with Roth has been a stormy one over the years. Roth left the band in a bitter breakup in 1985, only to rejoin for a performance at the MTV Video Music Awards in 1996, then quickly depart in another bitter split. He returned to Van Halen for a tour in 2007-08.

Story: Best guitarist of all time? Hendrix, says Rolling Stone

The band, whose early hits include "Runnin' With the Devil" and "Dance the Night Away," was among the leading rock acts of the late 1970s, 1980s and into the 1990s when Sammy Hagar replaced Roth as singer.

Michael Anthony was the original bassist, but alongside Hagar he has joined another band, Chickenfoot. Wolfgang Van Halen, Eddie's son, took over on bass.

Source: http://today.msnbc.msn.com/id/45795085/ns/today-entertainment/

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Mena Golf Tour's top three invited to compete in Asian Tour Qualifying School

Dubai: In a ringing endorsement of the Mena Golf Tour, which ended here in October, the top three participants have been invited to compete in the final stages of the Asian Tour Qualifying School.

Presented by the Sports Authority of Thailand, the final stage will be held from January 18 to 21 at the Springfield Royal Country Club and Imperial Lakeview, where the top-40 and ties will earn playing rights for the 2012 Asian Tour season.

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Our tour has the potential to launch the careers of regional and international stars and with time it will contribute to enhancing the overall development of golf in the region. That's the ultimate aim

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MENA Golf Tour chairman Mohammad Juma Bu Amim

Jake Shepherd, Peter Richardson and Sean McNamara, who finished among the top three on the Order of Merit earlier this year, will receive exemptions into the final stage in recognition of their performance on the four-event MENA Golf Tour, which boasted a combined prize fund of $225,000.

Emerging talent

Article continues below

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The three professionals, who have also been handed special invitations to play in the 2012 Omega Dubai Desert Classic in February, are excited at the prospects of competing alongside some of the world's best emerging talent in the final stage.

"It will be an honour to play on the Asian Tour and we are grateful to them for the first-stage exemption," said Shepherd, who topped the MENA Golf Tour Order of Merit with total earnings of $17,749 from three of the four events he played on the tour.

"Playing on the MENA Golf Tour has opened up a wide [range of] opportunities which we never dreamed of. The exposure to the final stage competition will also help us fine-tune our game ahead of the European Tour event in Dubai."

The Qualifying School will also enable upcoming players the opportunity to compete on the Asian Development Tour that has grown to eight tournaments since its inception in 2010.

Excitement

Mohammad Juma Bu Amim, chairman of the MENA Golf Tour, thanked the Asia Tour for their gesture, saying it would add more excitement to the tour and reflect the bond the two tours share.

"Our tour events are open to both professionals and amateurs and, therefore, have a unique appeal. Money is one thing. They offer an opportunity to play golf at the highest level (the Omega Dubai Desert Classic) and now this first stage exemption on the Asian Tour Q-School is an added bonus," he said.

"The players won't be short on incentives when they tee it up in the second edition of the MENA Golf Tour, which we are planning to launch some time in March or April next year.

"Our tour has the potential to launch the careers of regional and international stars and with time it will contribute to enhancing the overall development of golf in the region. That's the ultimate aim."

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Source: http://gulfnews.com/sport/golf/mena-golf-tour-s-top-three-invited-to-compete-in-asian-tour-qualifying-school-1.957171?localLinksEnabled=false&utm_source=Feeds&utm_medium=RSS&utm_term=Sport_RSS_feed&utm_content=1.957171&utm_campaign=Mena_Golf_Tour's_t

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Demi Lovato Goes Off on Disney for Eating Disorder Joke


The folks at Disney forced Demi Lovato out of the Christmas spirit last night.

The former star of Sonny With a Chance - who left that series earlier this year to battle personal problems that included an eating disorder - took MAJOR exception to a joke on the Disney Channel show Shake It Up this week, as a character quipped:

"I could just eat you up, well if I ate."

Demi Lovato in Parade

The line promoted the following Tweets from Lovato:

I find it really funny how a company can lose one of their actress' from the pressures of an EATING DISORDER and yet still make joke about that very disease...

And is it just me or are the actress' [on Disney Channel] getting THINNER AND THINNER.... I miss the days of RAVEN, and LIZZIE MCGUIRE...

Dear Disney Channel, EATING DISORDERS ARE NOT SOMETHING TO JOKE ABOUT.

The network, meanwhile, has actually responded and agreed with Lovato, releasing the following statement:

"We hear you & are pulling both episodes as quickly as possible & reevaluating them ... It’s NEVER our intention to make light of eating disorders!"

Way to go, Demi! And happy holidays! Go stuff your face. You've earned it.

Source: http://www.thehollywoodgossip.com/2011/12/demi-lovato-goes-off-on-disney-for-eating-disorder-joke/

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Gingrich ethics case from 15 years ago leaves scar

(AP) ? ??On Jan. 21, 1997, one of the most memorable days in congressional history, Newt Gingrich became the first House speaker to be reprimanded by his colleagues for ethical misconduct.

?????The 395-28 vote, to reprimand him for bringing discredit on the House for failing to ensure his use of tax-exempt groups was legal, was historic by itself. But Gingrich's peers didn't stop there. They fined him $300,000 for misleading the House ethics committee and causing it to extend a costly investigation.

Fifteen years later, the case has come back into focus as the fight for next year's Republican presidential nomination has resuscitated a political career once thought to be all but over.

The ethics committee back then made no finding on whether Gingrich's use of tax-exempt groups to raise money was illegal. It said it would let the Internal Revenue Service determine if any tax laws were broken. In 1999, the IRS said they were not.

In settling the case, Gingrich acknowledged he gave false information to the ethics committee in denying that a Republican political action committee he led ? GOPAC ? was connected to a college course he taught that was funded by tax-exempt organizations.

?????GOPAC, in fact, was involved in developing what was supposed to be a nonpartisan college course, the committee said, and Gingrich's denial was "inaccurate, incomplete and unreliable."

?????Gingrich said in recent comments on the campaign trail that more than 1 million pages of documents were turned over to the ethics committee that investigated him, and that 83 charges were repudiated as false. "The one mistake we made was a letter written by a lawyer that I didn't read carefully," he said.

?????But he also accused the ethics committee of being partisan and said, "The way I was dealt with related more to the politics of the Democratic Party than the ethics." The committee, then and now, has an equal number of Democrats and Republicans.

The ethics findings, unhappiness of many Republicans with his leadership, and his resignation as speaker after 1998 GOP election losses left Gingrich with scars that seemed to doom his political career. It didn't revive until last month, when the former speaker surged to the top among Republican presidential hopefuls.

?????Gingrich's ethics investigation consumed more than two years. Democrats were rabid in their insistence that the speaker broke House rules. And they wanted revenge. Years earlier, Gingrich and others had filed an ethics complaint against a Democratic speaker, Jim Wright ? a case that led to Wright's resignation in 1989.

?????If Gingrich wins the GOP nomination, Democrats are certain to remind voters of this piece of baggage. The ethics report in 1997 portrayed him as unethical beyond the case at hand. Without details, it said that "over a number of years and in a number of situations, Mr. Gingrich showed a disregard and lack of respect for the standards of conduct that applied to his activities."

?????The genesis of Gingrich's ethics case goes back to 1990, when he was No. 2 in the House GOP hierarchy. Democrats had a stranglehold on the majority dating back to 1955, and Gingrich knew that If Republicans were ever to take back the House, they had to recruit hundreds of thousands of new voters.

?????He developed a television show in 1990 and a college course in 1993, using tax-exempt organizations to help finance them and spread his message: Replace the "welfare state" with an "opportunity society" centered in part on Republican, free enterprise economic principles.

?????"Based on the evidence, it was clear that Mr. Gingrich intended that the (television show and college course) have substantial partisan, political purposes," the ethics committee found.

?????That was a problem. U.S. tax law provides a way for people to make tax-deductible donations to certain groups as long as those groups stay away from partisan politics. The groups are often called 501c3s because that's the section of the IRS code that gives them tax-exempt status.

Gingrich's TV show and college course originally were a project of his GOPAC political action committee. But after they started consuming a substantial portion of the political committee's revenues, Gingrich and others transferred the project to the Abraham Lincoln Opportunity Foundation. The foundation was a tax-exempt 501(c)3 group that had been dormant but was revived to sponsor the televised workshop.

The foundation operated out of GOPAC's offices, and virtually all its officers and employers were simultaneously GOPAC officers or employees. The main difference between GOPAC and the foundation was the $260,000 in tax-deductible contributions the foundation raised to fund the TV program and the workshops.

Gingrich tried to protect his donors' tax deductions by keeping out references to Republicans and partisan politics in the TV show and college course. The course was taught originally at the public Kennesaw State College in Georgia in 1993 and the private Reinhardt College in 1994 and 1995. Gingrich and another professor each taught 20 hours.

The partisanship came in when Gingrich arranged "workshops" across the country for people to see his lectures and the TV show. A purpose of the workshops was to recruit voters who would support Republicans, the ethics committee said.

?????It cited documents in which Gingrich describes the purpose of the TV show and college course.

?????"The objective measurable goal is the maximum growth of news coverage of our vision and ideas, the maximum recruitment of new candidates, voters and resources, and the maximum electoral success in winning seats from the most local office to the White House," Gingrich wrote.

?????He said in numerous writings that the college course was part of his "Renewing American Civilization" movement to replace the "welfare state." The course and the movement had the same name.

?????In a 1993 document Gingrich said the goal of the movement was "replacing the welfare state, recruit, discover, arouse and network together 200,000 activists including candidates for elected office at all levels" leading to "a sweeping victory in 1996."

?????He didn't have to wait that long. In the 1994 election, Gingrich engineered a Republican takeover of the House. The GOP held the House majority for a dozen years until Democrats regained it in 2006. Last year, Republicans took it back.

?????

Associated Press

Source: http://hosted2.ap.org/APDEFAULT/89ae8247abe8493fae24405546e9a1aa/Article_2011-12-24-Gingrich-Ethics/id-dad48a772f5f404dac3ca7e4eb56e9ea

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Happy holidays from TiPb!

Whether you’re hip deep in Hanukah, kicking off Christmas, or simply celebrating for the fun of it, from everyone here at TiPb and Mobile Nations, to all of you and yours: Here’s wishing you peace and prosperity, health and happiness, love and longevity. Now launch a toasty fireplace app,...

Source: http://feedproxy.google.com/~r/TheIphoneBlog/~3/f_pEWIFE8y4/story01.htm

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Google To Pay Mozilla $300 Million a Year in Search Deal (NewsFactor)

Google will pay about three times as much as it once did to be the default search engine on Mozilla's Firefox browser. Although Google and Mozilla are keeping the word mum, news reports are leaking details of the deal.

"Under the multi-year agreement, Google Search will continue to be the default search provider for hundreds of millions of Firefox users around the world," said Gary Kovacs, CEO of Mozilla. What Kovacs did not say -- and AllThingsD blogger Kara Swizer is saying -- is this: The Google deal is valued at just shy of $1 billion.

AllThingsD reports that Google will pay just under $300 million a year for the strategic positioning on Firefox. Microsoft was vying for the placement for its Bing decision engine on Firefox. Microsoft also has a deal in place with Facebook.

What About Bing?

"Mozilla was able to involve Microsoft in the discussion and so created some competition for its Firefox 'default' search business. While Google's market share would probably not have been significantly affected by a switch to Bing, it was enough of a threat to generate this deal," said Greg Sterling, principal analyst at Sterling Market Intelligence.

Microsoft had been cozying up to Mozilla in recent months. In October, Mozilla and Bing rolled out Firefox for Bing, a customized version of Firefox that sets Bing as the default search engine in the search box and AwesomeBar and makes Bing.com the default home page. But Bing doesn't have a lock down on the custom Firefox experience. Mozilla is also working with United Internet, Twitter, Yahoo and Yandex on that front.

But Alan Eustace, Google's senior vice president of search, cemented the relationship between the browser rivals, at least in the media. "Mozilla has been a valuable partner to Google over the years and we look forward to continuing this great partnership in the years to come," he said. Google has the lockdown on the search engine for the next three years, at least.

Chrome vs. Firefox

Although Microsoft still has the market-leading browser with Internet Explorer, Firefox and the Google Chrome browser together are making strong gains against the incumbent. According to StatCounter, the combined versions of Internet Explorer hold about 50 percent of the global market share. Safari has gained about 5 percent on the desktop, and about 55 percent on mobile devices.

Chrome has usurped Firefox on the browser usage front. According to StatCounter, Chrome boasts 25.7 percent of the global browser market. That's nearly a 5 percent climb from two years ago. Firefox has 25.23 percent. Some industry watchers predict Chrome could draw a larger advantage against Firefox by the end of the first quarter of 2012.

"Google's own Chrome browser is increasingly a threat to Firefox, and Google's earlier, apparent abandonment of Firefox seemed to be a statement that it no longer needed the company," Sterling said. "However Mozilla seems to have played its hand well here and guaranteed its survival for the foreseeable future."

Source: http://us.rd.yahoo.com/dailynews/rss/linux/*http%3A//news.yahoo.com/s/nf/20111223/bs_nf/81509

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Making Time New Year?s Eve 2011/12 at Union Transfer on 12/31/2011 09:00 PM EST

Making Time New Year?s Eve 2011/12

Making Time & R5 Presents ::

Main Floor DJs : Dave P / Sammy Slice / Mike Z / Dave Pak, Room 2 : A Rock Tits Event, ROOM 3 : In the HYPERCAGE

Sat, December 31, 2011

Doors: 9:00 pm / Show: 9:00 pm (event ends at 2:00 am)

Union Transfer

Philadelphia, PA

This event is 21 and over

http://www.utphilly.com/event/80975/

Making Time New Year?s Eve 2011/12

Making Time New Year?s Eve 2011/12

Three rooms / 12 DJs and open bar for New Years Eve!

Main Floor DJs : Dave P / Sammy Slice / Mike Z / Dave Pak

Illuminating the dance floor w/
indiedance.cocainesexjams.partytrainanthems.nitemusic.futuristicsounds.

Room 2 : A Rock Tits Event

With DJs Joel Flood, Russ Alexander and Steve Vena. With a combined squat weight of 600 pounds and backs like a barrel of
snakes, Philadelphia's premier macho rock DJs go deep inside the Bear Den to bring you a sweaty, shirtless, unprotected party experience. Journey with us and let our capable muscular hands guide the way to a night of : Basement Bangers, Midnight Ramblers, Barabajanglers, Heavy Sounds, Cherry Bombs and Good Vibrations

ROOM 3 : In the HYPERCAGE

With DJs : Adam Sparkles, Pink Skull (DJ set) and Broadzilla

Making Time's third circle of Hell, that mirrorball technodrome tardis reserved only for dark dungeon funkers, wax traxx punkers, slamdance cosmonauts from the D.M.S.R, Eno-huffers and pyramid pushers; a Connect-Four sub-dub disco welcoming leather boys and invisible girls, balearic chuggers and acid house mothers, handclap drumbucket congaloids, poison arrow people of all stripes, and the scum of the earth.

Venue Information:
Union Transfer
1024 Spring Garden St.
Philadelphia, PA 19123

There are currently no videos. Check back soon.

Source: http://www.utphilly.com/event/80975?utm_medium=api

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Red Cross encourages donors to ?Tech the Halls? with Apple iPad 2 giveaway

The American Red Cross South Carolina Blood Services Region is encouraging donors to ?Tech the Halls? with an Apple iPad 2 giveaway. All presenting blood and platelet donors at the Columbia donation center Dec. 19, 2011 through Jan. 2, 2012 will automatically be entered for a chance to win a free Apple iPad 2.?

?Columbia Donation Center

2751 Bull St.

Columbia, S.C. 29201

?

Blood donation hours:
Monday: 11 a.m. - 7 p.m.
Tuesday: 11 a.m. - 7 p.m.
Wednesday: 11 a.m. - 7 p.m.
Thursday: 7 a.m. - 2 p.m.
Friday: 7 a.m. - 2 p.m.
Saturday: 7 a.m. - 2 p.m.

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Platelet donation hours:
Sunday: 6 a.m. - 1 p.m. (open 6 a.m.-noon Christmas day)
Monday: 6 a.m. - 6 p.m.
Tuesday: 6 a.m. - 6 p.m.
Wednesday: 11 a.m. - 6 p.m.
Thursday: 6 a.m. - 1 p.m.
Friday: 6 a.m. - 1 p.m.
Saturday: 6 a.m. - 1 p.m.

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For your chance to win, simply stop by your local South Carolina Blood Services Region Red Cross donation center from Dec. 19, 2011 through Jan. 2, 2012 to donate blood or platelets. One lucky presenting donor in the South Carolina Region will be selected at random to receive an iPad 2.

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The need for blood and platelets is constant and doesn?t pause for the holidays. By taking time to donate this winter, you can help the Red Cross ensure a stable supply for all patients who need blood products.

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All blood types are needed to help maintain a sufficient blood supply, especially type O negative. Type O negative blood, the universal blood type, is always in high demand because it can be transfused to patients with any blood type, especially in emergency situations.

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Every two seconds, someone in the United States needs blood. The American Red Cross South Carolina Blood Services Region provides lifesaving blood to patients in 54 hospitals. Approximately 500 people need to give blood or platelets each week day to meet hospital demand.

?

Blood can be safely donated every 56 days. Most healthy people age 17 and older, or 16 with parental consent, who weigh at least 110 pounds, are eligible to donate blood and platelets. Donors who are 18 and younger must also meet specific height and weight requirements.

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For more information or to schedule an appointment to donate, call 1-800-RED CROSS (733-2767) or visit redcrossblood.org.

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Source: http://columbia.wistv.com/news/community-spirit/50875-red-cross-encourages-donors-tech-halls-apple-ipad-2-giveaway

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