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Identification of UBE2T as a gene mutated in Fanconi anemia http://smogorzewskalaboratory.org/people daily 0.75 2026-01-16 https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1435624055198-1WJY2HY7QID1BLJGBG8C/IMG_2128.jpg PEOPLE https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1665579648394-CY1NR6AG7FDD056NPHE1/Smogorzewska_cropped.jpg PEOPLE - Agata Smogorzewska Professor, Head of Laboratory asmogorzewska(at)rockefeller.edu https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1665443355913-7QE9ZNAP5ORE5MHYL2K2/1660612508449.jpg PEOPLE - Tamar Berger Tamar Berger tberger(at) rockefeller.edu https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1665441092929-YHG149NQI84TGFDAODPF/Screenshot+2019-10-15+20.56.10.png PEOPLE - Nicolas Blobel Nicolas Blobel nblobel (at)mail.rockefeller.edu https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1603165136523-D3CHE62G8J4V16QPGZW8/Cayla.jpg PEOPLE - Cayla Broton Cayla Broton cbroton(at)rockefeller.edu https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1665442897741-5COKY8BMT0EGZWA5G1QY/Harrison%2BBenjamin.jpg PEOPLE - 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Make it stand out Whatever it is, the way you tell your story online can make all the difference. http://smogorzewskalaboratory.org/publications daily 0.75 2022-12-08 https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1435618162246-0VZA1ATSQ9JRAZ4XDT56/NYView2.jpg PUBLICATIONS http://smogorzewskalaboratory.org/research daily 0.75 2016-02-15 https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1435632074360-PMJC3MENVZ6X6DG6FW28/whole+metaphase_THREE_BANNER.jpg RESEARCH https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1455487686570-XPG9261HH8VKZG5KZNGQ/identification+of+genes.001.jpg RESEARCH https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1455487781315-8M0VJD7REQVQKQ2YW5SE/image-asset.jpeg RESEARCH https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1455487795513-EU22MZMKILVFRT3S8QB8/image-asset.jpeg RESEARCH https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1455487859947-JZ51E1ZYPQD3SUKSV0KS/slides+for+website.001.jpg RESEARCH https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1455488781986-22F6HUN83S058VCMPIUZ/slides+for+website3.001.jpg RESEARCH DNA transactions at the ICL and the FANC proteins. The proteins encoded by the nineteen genes identified to be mutated in FA patients (colored in the schematic) are implicated in a common pathway important for the repair of DNA interstrand crosslink (ICL) lesions that covalently link two strands of DNA. Associated proteins that have not been shown to be mutated in FA patients are shown in grey. Upon replication fork stalling at the ICL, FANCI and FANCD2 are ubiquitinated by the FANCL in the core complex and localize to the ICLs where they directly or indirectly recruit effectors including SLX4, FAN1, and translesion polymerases. The repair is completed by homologous recombination. FANCS/BRCA1 has been also implicated in unloading of the replicative CMG helicase at stalled replication forks and RAD51 functions to protect the DNA at the crosslink from inappropriate degradation by DNA2/WRN complex. Letters stand for full gene names A=FANCA, B=FANCB, R=FANCR, and so on. Figure and text are adapted from Wang and Smogorzewska, SnapShot: Fanconi anemia and associated proteins. Cell 2015 Jan 15. This model is based on work from many labs working on ICL repair. https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1455489830903-PA98RVC2B13KHVOITPRA/image-asset.jpeg RESEARCH Consequences of poor ICL repair. Unrepaired or misrepaired ICLs lead to stem cell failure, tumorigenesis and kidney failure. Fanconi anemia (FA) patients may display diverse congenital abnormalities, including growth restriction, skeletal, and other organ malformations. Most FA patients develop bone marrow failure that may affect any of the blood lineages. FA patients are also cancer prone. Kidney failure is characteristic in karyomegalic interstitial nephritis (KIN) caused by mutations in FAN1, which codes for a nuclease that participates in ICL repair https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1455487626192-PQI6J0D4QY83J8QTBJBX/image-asset.jpeg RESEARCH https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1455487735420-RKG36UT9Q635N4CFOLYX/image-asset.jpeg RESEARCH https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1455489468604-WM77NEVBN8WNFZKHGGJR/image-asset.jpeg RESEARCH Examples of patient samples with the top left picture showing normal mucosa, the middle top picture showing transition of normal to cancerous area, and the other pictures showing tumors. http://smogorzewskalaboratory.org/funding daily 0.75 2019-10-11 https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1435617235359-U0NSV8FAHCZ3P2QS16HG/banner+for+funding.jpeg FUNDING https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1435593266501-QJPUR5TXZ0CC0J3U3ZGW/RU_logo_tagline%28294%29.jpg FUNDING https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1435593519236-T50GZMFPNFN6SUCSXT2U/image-asset.png FUNDING https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1435593807451-1SGIC71EV63AOMKJN0S7/image-asset.png FUNDING https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1435594133811-OEYU3MNCZ3HWBPC4943P/image-asset.png FUNDING https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1570810686247-BP70ZSJKZHQ7VC0HZ5NL/Screenshot+2019-10-11+19.17.38.png FUNDING https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1570811255151-ZVBE8EA8BL8ADUHF8UCE/Screenshot+2019-10-11+19.27.08.png FUNDING https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1435592678391-ZI7I54HWYYXH32KB9Z07/image-asset.png FUNDING https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1435593585944-I0JIG8YCZ3FUX4QD1ELH/image-asset.gif FUNDING https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1435593898776-229CF4XZ0VFLC8VKDPNL/image-asset.jpeg FUNDING https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1570810979746-EJRTXQI15FJKR9XC4F0T/Screenshot+2019-10-11+19.22.41.png FUNDING https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1435593433002-F6LJ1A4MUB1G38MJTCKC/image-asset.png FUNDING https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1435593646887-IPG12A25JSS6BRBST1HP/image-asset.gif FUNDING https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1570811070838-DSGB7W63XONVENIWV8NC/Screenshot+2019-10-11+19.24.03.png FUNDING https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1435594397475-5IGLZM91107H21JCG1WQ/image-asset.jpeg FUNDING http://smogorzewskalaboratory.org/contact-us daily 0.75 2022-10-10 https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1435623517558-RGCYPNIEZEF2DDN84O7G/bridge.JPG Contact Us http://smogorzewskalaboratory.org/new-research-draft-page daily 0.75 2022-04-01 https://images.squarespace-cdn.com/content/v1/558f6ad9e4b01cfd84eabb8f/1648752126127-V0FBHGTFFBEHT3BQIYGU/HHMI+2020_Figure+1+copy.jpg 2022_New Research Page for Website - 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