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Encyclopedia results for Xeroderma pigmentosum

Xeroderma pigmentosum





Encyclopedia results for Xeroderma pigmentosum

  1. Ryo Kimura

    Infobox person name Ryo Kimura br Nihongo2 image imagesize alt caption birth name birth date Birth date and age 1988 09 23 birth place Mitaka, Tokyo , Japan death date death place othername occupation Actor yearsactive 2002 present spouse domesticpartner website http www.horipro.co.jp hm kimura index.php Nihongo Ryo Kimura Kimura Ryou born September 23, 1988 is a Japan ese actor who debuted in 2002. His first movie was Moonlight Jellyfish , in which he co starred with Tatsuya Fujiwara . He played the role of Michio, a mentally challenged 15 year old boy diagnosed with an incurable skin disease called XP Xeroderma Pigmentosum . Dramas Water Boys 2 TV series Water Boys 2 Hideki Sano 2004 Division 1 Houkago Hiroshi Kaji 2004 Return March Haisha Fukkatsu Sen Susumu Kouno 2004 Xmas nante daikirai Masaya Okura 2005 Yankee Boukou ni kaeru Tabitachi no toki Furyou Shounen no Yume Mamoru Izumi 2005 Karera no Umi.VII Wish On The Polestar Ken Kashiwagi 2005 Seishun Energy Check It Out Yo in Tokyo Sanpei Kujou 2006 Dandori. Dance Drill Tatsuro Jinguji 2006 Nodame Cantabile Noriyuki Takahashi 2006 Tsubasa no oreta tenshi tachi 2007 Daisuke 2007 Tokkyu Tanaka 3gou Jirou Tanaka 2007 Internet Drama Myudora. Aisubeki Hito 2007 Hana Kimi Hanazakari no Kimitachi e Senri Nakao 2007 F rinkazan Taiga drama Furin Kazen Yoshonobu Takeda 2007 Flight Panic Amaya Yusuke 2007 Konya wa Shibuya de 6ji Sawada Kai 2008 Pazuru Puzzle Kanzaki Akira 2008 Cat Street manga Cat Street Suzuki Kouta 2008 Akai ito Takahashi Riku Takachan 2008 Otomen Hajime Tonomine 2009 Movies Moonlight Jellyfish Michio Terasawa 2004 Saikano Saishuu Heiki Kanojo Atsushi 2006 Catch a Wave Masato Kobayasho 2006 Sugar&Spice Sugar & Spice Fuumi Zekka Mackey 2006 Heat Island Kaoru 2007 Waruboro Kyamu 2007 External links http www.horipro.co.jp hm kimura index.php Official Site ja Japanese Wikipedia Persondata Metadata see Wikipedia Persondata . NAME Kimura, Ryou ALTERNATIVE NAMES SHORT DESCRIPTION DATE OF BIRTH Sep ...   more details



  1. IBIDS syndrome

    Infobox Disease Name PAGENAME Image Caption DiseasesDB ICD10 ICD9 ICDO OMIM 601675 MedlinePlus eMedicineSubj eMedicineTopic MeshID IBIDS syndrome , also known as trichothiodystrophy TTD , photosynthetic trichthiodystrophy TTDP , trichothiodystrophy with congenital ichthyosis , Tay syndrome or sulfur deficient brittle hair syndrome , ref name omim OMIM 601675 ref ref name Bolognia cite book author Rapini, Ronald P. Bolognia, Jean L. Jorizzo, Joseph L. title Dermatology 2 Volume Set publisher Mosby location St. Louis year 2007 pages isbn 1 4160 2999 0 ref ref name Fitz2 rp 485 was first described by Tay in 1971. It is an autosome autosomal dominance genetics recessive ref name tar cite pmid 19931493 ref congenital disorder congenital skin disease ref name Andrews cite book author James, William Berger, Timothy Elston, Dirk year 2005 title Andrews Diseases of the Skin Clinical Dermatology 10th ed. publisher Saunders isbn 0721629210 page 575 ref characterized by a congenital ichthyosiform erythroderma, growth and mental retardation , progeria like facies, and brittle hair. ref name Fitz2 cite book author Freedberg, et al. year 2003 title Fitzpatrick s Dermatology in General Medicine 6th ed. publisher McGraw Hill isbn 0071380760 page 501 ref The association of ichthyosis , brittle hair, intellectual impairment, decreased fertility, and short stature has been given the acronym IBIDS syndrome. ref name Fitz2 In some cases, it can be diagnosed prenatally. ref name pmid17880036 cite journal author Kleijer WJ, van der Sterre ML, Garritsen VH, Raams A, Jaspers NG title Prenatal diagnosis of xeroderma pigmentosum and trichothiodystrophy in 76 pregnancies at risk journal Prenat. Diagn. volume 27 issue 12 pages 1133&ndash 1137 year 2007 month Dec pmid 17880036 doi 10.1002 pd.1849 ref It is associated with ERCC2 and ERCC3 . ref name omim Eponym It is named after Dr. Tay Chong Hai , a Singapore an doctor who discovered and subsequently published a paper on it in 1971. ref cite jour ...   more details



  1. Nucleotide excision repair

    all derive from Xeroderma pigmentosum and ERCC8 CSA and ERCC6 CSB represent proteins linked to Cockayne ...   more details



  1. Moritz Kaposi

    languages. He is credited with the description of xeroderma pigmentosum , a rare genetic disorder now known to be caused by defects in nucleotide excision repair Ueber Xeroderma pigmentosum. Medizinische ...   more details



  1. List of MeSH codes (C17)

    MeshNumber C17.800.600.725 Sunburn sunburn MeshNumber C17.800.600.925 Xeroderma Pigmentosum xeroderma pigmentosum MeshNumber C17.800.621 Pigmentation Disorders pigmentation disorders MeshNumber C17.800.621.166 ... C17.800.621.936 Xeroderma Pigmentosum xeroderma pigmentosum MeshNumber C17.800.674 Prurigo prurigo ... neonatorum MeshNumber C17.800.804.936 Xeroderma Pigmentosum xeroderma pigmentosum MeshNumber C17.800.815 ... Xeroderma Pigmentosum xeroderma pigmentosum MeshNumber C17.800.838 Skin Diseases, Infectious ...   more details



  1. Midnight Sun (film)

    Infobox Film name Song to the Sun image Yui Taiyou no Uta.jpg img capt Taiyou no Uta Standard Edition director Norihiro Koizumi writer Kenji Bando caption starring Yui singer Yui br Takashi Tsukamoto br Kuniko Asagi br Goro Kishitani br Sogen Tanaka br Airi Toyama music Yui distributor Shochiku Shochiku Co.,Ltd. br Japan released June 17, 2006 Japan runtime 119 min. language Japanese language Japanese Song to the Sun , known in Japan as nihongo Taiy no Uta Song of the Sun , is a movie directed by Norihiro Koizumi starring the Japanese people Japanese artist and singer Yui singer Yui . In the movie, she plays the role of Kaoru Amane Amane Kaoru , a 16 year old girl who has the rare skin condition xeroderma pigmentosum XP , a disease that makes the ultraviolet radiation of sunlight potentially lethal to her. Yui s character is partly based on herself, as she is a singer and guitarist, and she performs three of Yui s songs in the movie It s Happy Line , Good bye Days and Skyline . There has also been a Japan ese TV drama based on the movie, starring Takayuki Yamada and Erika Sawajiri , along with a manga by Bandou Kenji also based on the movie by Minatsuki Tsunami . There is also a 2010 Korean language Korean musical film Musical with Girls Generation s Taeyeon playing in the role of Kaoru. Plot Plot date December 2009 Kaoru has Xeroderma Pigmentosum XP , and is not allowed to be exposed to sunlight. She sleeps during the day and is active at night. She busks every night in front of a station playing guitar . Outside her bedroom window, she spots a high school boy with a surfboard . She watches him and his friends visit the ocean every morning, before going to sleep. One day, she introduces herself to him without letting him know about her illness. He is K ji Fujishiro Takashi Tsukamoto When her cousin drags her home, they sit by her window while they watch K ji meet his friends. Kaoru explains everything, and her cousin notes that she probably goes to th ...   more details



  1. UVRAG

    Orphan date February 2009 PBB geneid 7405 UV radiation resistance associated gene protein is a protein that in humans is encoded by the UVRAG gene . ref name pmid9169138 cite journal author Perelman B, Dafni N, Naiman T, Eli D, Yaakov M, Feng TL, Sinha S, Weber G, Khodaei S, Sancar A, Dotan I, Canaani D title Molecular cloning of a novel human gene encoding a 63 kDa protein and its sublocalization within the 11q13 locus journal Genomics volume 41 issue 3 pages 397 405 year 1997 month Jul pmid 9169138 pmc doi 10.1006 geno.1997.4623 ref ref name entrez cite web title Entrez Gene UVRAG UV radiation resistance associated gene url http www.ncbi.nlm.nih.gov sites entrez?Db gene&Cmd ShowDetailView&TermToSearch 7405 accessdate ref The PBB Summary template is automatically maintained by Protein Box Bot. See Template PBB Controls to Stop updates. PBB Summary section title summary text This gene complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells and encodes a protein with a C2 domain. The protein activates the Beclin1 PI 3 KC3 complex, promoting autophagy and suppressing the proliferation and tumorigenicity of human colon cancer cells. Chromosomal aberrations involving this gene are associated with left right axis malformation and mutations in this gene have been associated with colon cancer. ref name entrez References reflist Further reading refbegin 2 PBB Further reading citations cite journal author Liang C title UVRAG a new player in autophagy and tumor cell growth journal Autophagy volume 3 issue 1 pages 69 71 year 2007 pmid 17106237 doi author separator , author2 Feng P author3 Ku B display authors 3 last4 Oh first4 BH last5 Jung first5 JU cite journal author Teitz T title Isolation by polymerase chain reaction of a cDNA whose product partially complements the ultraviolet sensitivity of xeroderma pigmentosum group C cells journal Gene volume 87 issue 2 pages 295 298 year 1990 pmid 2332174 doi 10.1016 0378 1119 90 90316 J author separator , aut ...   more details



  1. Mitzi Kapture

    in 2007. Kapture is the official celebrity spokesperson for the Xeroderma Pigmentosum Society. Sources ...   more details



  1. Photosensitivity

    dablink You may have been trying to reach the article on photosensitive epilepsy , photophobia , or photodermatitis . Multiple issues lead too short September 2009 refimprove April 2008 Photosensitivity is the amount to which an object reacts upon receiving photon s, especially visible light . Interpretation in medicine Human medicine main Photosensitivity in humans Sensitivity of the skin to a light source can take various forms. People with particular skin types are more sensitive to sunburn . Particular medications make the skin more sensitive to sunlight these include most of the tetracycline antibiotics , heart drugs amiodarone , and sulfonamides . Particular conditions lead to increased light sensitivity. Patients with systemic lupus erythematosus experience skin symptoms after sunlight exposure some types of porphyria are aggravated by sunlight. A rare hereditary condition xeroderma pigmentosum a defect in DNA repair is thought to increase the risk of UV light exposure related cancer by increasing photosensitivity. Veterinary medicine See Photosensitivity in animals Photosensitivity is a well known condition in different animals species including sheep , bovine , horse . Its economic importance derives from the numerous animals involved in the same time. Photosensitizations are classified as primary if an ingested plant contains a photosensitive substance, like hypericin in St John s wort poisoning in sheep, or buckwheat buckwheat plants green or dried in horses. ref http www.understanding horse nutrition.com buckwheat.html Understanding Horse Nutrition.Com on buckwheat ref In hepatogenous photosensitization , the photosensitzing substance is phylloerythrin , a normal end product of chlorophyll metabolism.  ref cite book coauthors D.C. Blood, J.A. Henderson, O.M. Radostits title Veterinary Medicine publisher Bailli re Tindall location London edition 5th year 1979 isbn 0 7020 07 18 8 pages 841 847 Lactation Tetany ref It accumulates in the body because of ...   more details



  1. Gilbert Chu

    Chemistry 272 39 24097 24100 Sep 26 1997 Times Cited 155 Tang Jy, Hwang Bj, Ford Jm, et al. Xeroderma Pigmentosum P48 Gene Enhances Global Genomic Repair And Suppresses Uv Induced Mutagenesis ...   more details



  1. Postreplication repair

    Expert subject Biology date November 2008 Cleanup date June 2007 Postreplication repair is the DNA repair repair of damage to the DNA that takes place after DNA replication replication . Some example genes in humans include BRCA2 and BRCA1 Bloom syndrome protein BLM NBS1 DNA damage prevents the normal enzymatic synthesis of DNA by the replication fork . ref Rupp WD, Howard Flanders P. Discontinuities in the DNA synthesized in an excision defective strain of Escherichia coli following ultraviolet irradiation. J Mol Biol 1968 31 291 304. ref ref Lehmann AR. Post replication repair of DNA in ultraviolet irradiated mammalian cells. No gaps in DNA synthesized late after ultraviolet irradiation. Eur J Biochem 1972 31 438 45. ref ref di Caprio L, Cox BS. DNA synthesis in UV irradiated yeast. Mutat Res 1981 82 69 85. ref ref Prakash L. Characterization of postreplication repair in Saccharomyces cerevisiae and effects of rad6, rad18, rev3 and rad52 mutations. Mol Gen Genet 1981 184 471 8 ref At damaged sites in the genome, both prokaryote prokaryotic and eukaryote eukaryotic cells utilize a number of postreplication repair PRR mechanisms to complete DNA replication. Chemically modified bases can be bypassed by either error prone ref Morrison A, Christensen RB, Alley J, Beck AK, Bernstine EG, Lemontt JF, Lawrence CW. REV3, a Saccharomyces cerevisiae gene whose function is required for induced mutagenesis, is predicted to encode a nonessential DNA polymerase. Journal Of Bacteriology 1989 171 5659 67 ref or error free ref Masutani C, Kusumoto R, Yamada A, Dohmae N, Yokoi M, Yuasa M, Araki M, Iwai S, Takio K, Hanaoka F. The XPV xeroderma pigmentosum variant gene encodes human DNA polymerase eta. Nature 1999 399 700 4. ref translesion polymerase s, or through genetic exchange with the sister chromatid . ref Zhang H, Lawrence CW. The error free component of the RAD6 RAD18 DNA damage tolerance pathway of budding yeast employs sister strand recombination. Proc Natl Acad Sci U S A 20 ...   more details



  1. ERCC1

    bookshelf br.fcgi?book gene&part xp GeneReviews NIH NCBI UW entry on Xeroderma Pigmentosum PDB Gallery ...   more details



  1. Elizabeth Graver

    Elizabeth Graver born 1964 is a contemporary American writer of fiction and non fiction. Life Graver was born in Los Angeles , California , and grew up in Williamstown, Massachusetts . She received her B.A. from Wesleyan University in 1986, and her M.F.A. from Washington University in St. Louis in 1999. She also did graduate work at Cornell University . A recipient of fellowships from John Simon Guggenheim Memorial Foundation Guggenheim Foundation , the MacDowell Colony , and the National Endowment for the Arts , she has been a Professor of English and Creative Writing at Boston College since 1993. Married to civil writers lawyer James Pingeon, Graver is the mother of two young daughters. Graver writes character driven psychological fiction set in a wide variety of times and places, as well as more experimental short fiction, and non fiction essays on a variety of subjects. One novel, Unravelling , is set in 19th century America in the Lowell, Massachusetts Lowell textile mills and tells the story of a fiercely independent young woman and the life she eventually fashions for herself. The Honey Thief , a contemporary novel, explores a mother daughter relationship, as well as the fall out of living with and losing a mentally ill father. In Awake , Graver uses the genetic disease Xeroderma Pigmentosum to explore a mother s relationships with her sons, her husband and, eventually, her lover the novel is set at a camp for children with this rare disease. In a review of Unravelling in The New York Times Book Review , Benjamin DeMott wrote, Exceptional . . . Intensely imagined, right valued, memorable. In a Chicago Tribune review of The Honey Thief , John Gregory Brown wrote, One of our finest writers on the grand drama of simply growing up. Awards 1991 Drue Heinz Literature Prize , for Have You Seen Me? 1991 Cohen Prize from Ploughshares Magazine , for The Mourning Door Guggenheim Foundation Fellowship, 1991 National Endowment for the Arts Fellowship, 1992 MacDowell Colon ...   more details



  1. Cyclobutane

    of enzymes. Xeroderma pigmentosum is a genetic disease where this damage can not be repaired, resulting ...   more details



  1. List of systemic diseases with ocular manifestations

    TOCright This is a list of systemic diseases with ocular manifestations . An ocular manifestation of a systemic disease is an eye condition that directly or indirectly results from a disease process another part of the body. There are many diseases known to cause ocular or visual changes. Diabetes , for example, is the leading cause of new cases of blindness in those aged 20 74, with ocular manifestations such as diabetic retinopathy and macular edema affecting up to 80 of those who have had the disease for 15 years or more Citation needed date February 2007 . Other diseases such as AIDS acquired immunodeficiency syndrome AIDS and hypertension are commonly found to have associated ocular symptoms. Systemic allergic diseases Atopic dermatitis Atopic eczema Hay fever Asthma Urticaria Vernal conjunctivitis Skin and mucous membrane diseases Acne rosacea Albinism Atopic dermatitis Beh et s disease Pemphigoid Cicatricial pemphigoid Ehlers Danlos syndrome Epidermolysis bullosa Erythema multiforme Goltz Gorlin syndrome Ichthyosis Incontinentia pigmenti Nevus of Ota Pemphigus Pseudoxanthoma elasticum Psoriasis Stevens Johnson syndrome Erythema multiforme major Vogt Koyanagi Harada syndrome Xeroderma pigmentosum Phacomatoses Angiomatosis retinae Von Hippel Lindau disease Retinocerebellar Capillary Hemangiomatosis Ataxia telangiectasia Louis Bar syndrome Encephalotrigeminal Angiomatosis Encephalotrigeminal angiomatosis Sturge Weber syndrome Encephalofacial Cavernous Hemangiomatosis Neurofibromatosis von Recklinghausen s disease Tuberous sclerosis Bourneville s syndrome Wyburn Mason syndrome Racemose Hemangiomatosis Collagen diseases Ankylosing spondylitis Dermatomyositis Periarteritis nodosa Reiter s syndrome Rheumatoid arthritis Sarcoidosis Scleroderma Systemic lupus erythematosus Temporal arteritis Relapsing polychondritis Wegener s granulomatosis 50 60 have ophthalmologic manifestations, which can be a presenting feature in a minority of patients. Orbital disease is the mos ...   more details



  1. Chromosome 3 (human)

    syndrome Xeroderma pigmentosum, complementation group c Chromosomes DEFAULTSORT Chromosome 3 Human ...   more details



  1. Fear Nothing (novel)

    Infobox Book See Wikipedia WikiProject Novels or Wikipedia WikiProject Books name Fear Nothing orig title translator image Image Fear Nothing.jpg 200px prefer 1st edition image caption Cover of Fear Nothing author Dean Koontz cover artist country United States language English language English series Moonlight Bay Trilogy genre Suspense , Mystery novel publisher Cemetery Dance Publications , Bantam Books Bantam Publishing release date 1997 hardcover , 1998 paperback media type Hardcover , Paperback pages 448 pp isbn ISBN 1 881475 27 1 and ISBN 0 553 57975 4 preceded by followed by Seize the Night novel Seize the Night Fear Nothing is a novel released in 1997 by the best selling author Dean Koontz . The book is the first installment in what is reported to be a three part series of books, known as the Moonlight Bay Trilogy , featuring Christopher Snow, who suffers from the rare but real disease called XP xeroderma pigmentosum . The second of the three is Seize the Night novel Seize the Night . No release date has yet been set for the release of the third book titled Ride the Storm novel Ride the Storm . Fear Nothing is in several ways a successor to 1987 Koontz novel Watchers novel Watchers . Fear Nothing was originally released by Cemetery Dance Publications in 1997 as two different limited edition hardcovers ISBN 1 881475 27 1 A slipcased limited edition of 698 signed and numbered copies. A traycased lettered edition of 52 signed and lettered copies. Plot summary Fear Nothing , told in the first person, follows 24 hours of Christopher Snow s life, as he discovers and attempts to unravel a mysterious and seemingly endless conspiracy centered around a military compound called Fort Wyvern. The book opens with Christopher Snow going to visit his dying father at the hospital. As Snow enters, the lights are thoughtfully dimmed to protect him in his condition. As Christopher s father is near to death he manages to say a few words, including the title advice fear nothing . ...   more details



  1. Richard D. Wood

    Other people Richard Wood Richard D. Wood born June 3, 1955, Boulder, Colorado is an United States American molecular biologist specializing in research on DNA repair and mutation http www.sciencemag.org cgi content abstract 286 5446 1897 . He is known for pioneering studies on nucleotide excision repair NER , particularly for reconstituting the minimum set of proteins involved in this process, identifying proliferating cell nuclear antigen PCNA as part of the NER complex http www.sciencedirect.com science? ob ArticleURL& udi B6WSN 4C6BNK5 BC& user 10& rdoc 1& fmt & orig search& sort d& docanchor &view c& acct C000050221& version 1& urlVersion 0& userid 10&md5 e74b8e13e377bccfcd1948f4f423b8f8 and identifying mammalian repair polymerase s http www.jbc.org cgi content abstract 278 34 32014 http nar.oxfordjournals.org cgi content abstract 31 21 6117 . In humans, mutations affecting the NER DNA repair pathway cause the disease xeroderma pigmentosum or XP. Normal UV and sunlight exposure generates DNA mutations particularly pyrimidine dimers in epidermal cells that must be continually repaired through NER. XP patients are particularly sensitive to sun exposure and generally must stay indoors during the day, using heavy sunscreens to prevent skin damage and susceptibility to skin cancer. NER occurs through a programmed set of steps that includes recognition of the damaged site probably by sensing an unpaired bubble at the mutation site , nicking the DNA at upstream and downstream sites, excising the damaged DNA, then filling in the single stranded DNA gap using a polymerase , with the opposite strand serving as a template for the proper sequence for the repair patch. Since multiple proteins are involved in NER, different XP patients may have different gene mutations. Cells having different NER gene mutations can complement each other, when the cells are fused together, to reestablish DNA repair since one cell line has an intact enzyme that is defective or missing in the o ...   more details



  1. Second Glance

    year old nephew and Shelby s son. He suffers from Xeroderma pigmentosum . Cecelia Pike Lia Beaumont ...   more details



  1. List of MeSH codes (D12.776.260)

    D12.776.260.775.875.875.500 Xeroderma Pigmentosum Group D Protein xeroderma pigmentosum group ... nuclear factor 3 gamma MeshNumber D12.776.260.975 Xeroderma Pigmentosum Group A Protein xeroderma pigmentosum group a protein DEFAULTSORT List Of Mesh Codes D12.776.260 Category Medical Subject Headings ...   more details



  1. Yankees HOPE Week

    who suffer from Xeroderma Pigmentosum , a rare disease in which the body cannot repair cells damaged ...   more details



  1. Index of topics related to life extension

    D. George C. Williams Williams, George C. X Xeroderma pigmentosum Y Empty section date July 2010 ...   more details



  1. RAD23A

    excision repair complex involving the xeroderma pigmentosum group C protein and a human homologue ...   more details



  1. ERCC6

    sensitive disorders xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy journal ... with a molecular complex containing the transcription factor IIH components xeroderma pigmentosum ...   more details



  1. PUF60

    factor IIH and inhibit activated transcription. This gene is implicated in the xeroderma pigmentosum ... S, Weber A, et al. title Defective interplay of activators and repressors with TFIH in xeroderma pigmentosum journal Cell volume 104 issue 3 pages 353 63 year 2001 pmid 11239393 doi 10.1016 S0092 ...   more details




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