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Page 1
DNA-binding affinity and specificity determine the phenotypic diversity in BCL11B-related disorders.
Lessel I, Baresic A, Chinn IK, May J, Goenka A, Chandler KE, Posey JE, Afenjar A, Averdunk L, Bedeschi MF, Besnard T, Brager R, Brick L, Brugger M, Brunet T, Byrne S, Calle-Martín O, Capra V, Cardenas P, Chappé C, Chong HJ, Cogne B, Conboy E, Cope H, Courtin T, Deb W, Dilena R, Dubourg C, Elgizouli M, Fernandes E, Fitzgerald KK, Gangi S, George-Abraham JK, Gucsavas-Calikoglu M, Haack TB, Hadonou M, Hanker B, Hüning I, Iascone M, Isidor B, Järvelä I, Jin JJ, Jorge AAL, Josifova D, Kalinauskiene R, Kamsteeg EJ, Keren B, Kessler E, Kölbel H, Kozenko M, Kubisch C, Kuechler A, Leal SM, Leppälä J, Luu SM, Lyon GJ, Madan-Khetarpal S, Mancardi M, Marchi E, Mehta L, Menendez B, Morel CF, Harasink SM, Nevay DL, Nigro V, Odent S, Oegema R, Pappas J, Pastore MT, Perilla-Young Y, Platzer K, Powell-Hamilton N, Rabin R, Rekab A, Rezende RC, Robert L, Romano F, Scala M, Poths K, Schrauwen I, Sebastian J, Short J, Sidlow R, Sullivan J, Szakszon K, Tan QKG; Undiagnosed Diseases Network; Wagner M, Wieczorek D, Yuan B, Maeding N, Strunk D, Begtrup A, Banka S, Lupski JR, Tolosa E, Lessel D. Lessel I, et al. Among authors: lessel d. Am J Hum Genet. 2025 Jan 3:S0002-9297(24)00454-3. doi: 10.1016/j.ajhg.2024.12.012. Online ahead of print. Am J Hum Genet. 2025. PMID: 39798569
Multiple intracerebral hematomas during SEEG recording and intradural hemorrhage after spinal tap: A case report prompting more research on collagen IV gene mutation and oral nicotine consumption as risk factors.
Leitinger M, Broggi S, Spendel M, Kalss G, Petrović I, Krainz H, Rossini F, Höfler J, Toma A, Kuchukhidze G, Mauritz M, Poppert KN, Crespo-Pimentel B, Bosque-Varela P, Pleyers A, Ganger P, Kotzot D, Lessel D, Griessenauer CJ, Trinka E. Leitinger M, et al. Among authors: lessel d. Epilepsia Open. 2024 Nov 23. doi: 10.1002/epi4.13102. Online ahead of print. Epilepsia Open. 2024. PMID: 39579033 Free article.
A PSA SNP associates with cellular function and clinical outcome in men with prostate cancer.
Srinivasan S, Kryza T, Bock N, Tse BWC, Sokolowski KA, Janaththani P, Fernando A, Moya L, Stephens C, Dong Y, Röhl J, Alinezhad S, Vela I, Perry-Keene JL, Buzacott K, Nica R; IMPACT Study; Gago-Dominguez M; PROFILE Study Steering Committee; Schleutker J, Maier C, Muir K, Tangen CM, Gronberg H, Pashayan N, Albanes D, Wolk A, Stanford JL, Berndt SI, Mucci LA, Koutros S, Cussenot O, Sorensen KD, Grindedal EM, Travis RC, Haiman CA, MacInnis RJ, Vega A, Wiklund F, Neal DE, Kogevinas M, Penney KL, Nordestgaard BG, Brenner H, John EM, Gamulin M, Claessens F, Melander O, Dahlin A, Stattin P, Hallmans G, Häggström C, Johansson R, Thysell E, Rönn AC, Li W, Brown N, Dimeski G, Shepherd B, Dadaev T, Brook MN, Spurdle AB, Stenman UH, Koistinen H, Kote-Jarai Z, Klein RJ, Lilja H, Ecker RC, Eeles R; Practical Consortium; Australian Prostate Cancer BioResource; Clements J, Batra J. Srinivasan S, et al. Nat Commun. 2024 Nov 6;15(1):9587. doi: 10.1038/s41467-024-52472-6. Nat Commun. 2024. PMID: 39505858 Free PMC article.
Biallelic loss-of-function variants of SLC12A9 cause lysosome dysfunction and a syndromic neurodevelopmental disorder.
Accogli A, Park YN, Lenk GM, Severino M, Scala M, Denecke J, Hempel M, Lessel D, Kortüm F, Salpietro V, de Marco P, Guerrisi S, Torella A, Nigro V, Srour M, Turro E, Labarque V, Freson K, Piatelli G, Capra V, Kitzman JO, Meisler MH. Accogli A, et al. Among authors: lessel d. Genet Med. 2024 May;26(5):101097. doi: 10.1016/j.gim.2024.101097. Epub 2024 Feb 5. Genet Med. 2024. PMID: 38334070 Free article.
Association between circulating inflammatory markers and adult cancer risk: a Mendelian randomization analysis.
Yarmolinsky J, Robinson JW, Mariosa D, Karhunen V, Huang J, Dimou N, Murphy N, Burrows K, Bouras E, Smith-Byrne K, Lewis SJ, Galesloot TE, Kiemeney LA, Vermeulen S, Martin P, Albanes D, Hou L, Newcomb PA, White E, Wolk A, Wu AH, Le Marchand L, Phipps AI, Buchanan DD; International Lung Cancer Consortium; PRACTICAL Consortium; Zhao SS, Gill D, Chanock SJ, Purdue MP, Davey Smith G, Brennan P, Herzig KH, Järvelin MR, Amos CI, Hung RJ, Dehghan A, Johansson M, Gunter MJ, Tsilidis KK, Martin RM. Yarmolinsky J, et al. EBioMedicine. 2024 Feb;100:104991. doi: 10.1016/j.ebiom.2024.104991. Epub 2024 Feb 1. EBioMedicine. 2024. PMID: 38301482 Free PMC article.
Observational and genetic associations between cardiorespiratory fitness and cancer: a UK Biobank and international consortia study.
Watts EL, Gonzales TI, Strain T, Saint-Maurice PF, Bishop DT, Chanock SJ, Johansson M, Keku TO, Le Marchand L, Moreno V, Newcomb PA, Newton CC, Pai RK, Purdue MP, Ulrich CM, Smith-Byrne K, Van Guelpen B; PRACTICAL consortium, CRUK, BPC3, CAPS, PEGASUS; Day FR, Wijndaele K, Wareham NJ, Matthews CE, Moore SC, Brage S. Watts EL, et al. Br J Cancer. 2024 Jan;130(1):114-124. doi: 10.1038/s41416-023-02489-3. Epub 2023 Dec 6. Br J Cancer. 2024. PMID: 38057395 Free PMC article.
119 results