PubMed for id: 4089

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37816352,37428273,37175608,36740808,36546711,36496093,36450103,36194927,36120950,36038259,35898699,35716259,35680374,35545731,35475028,35426367,35025139,34957936,34703008,34301194,34114372,34048444,34002944,33794845,33774196,33686239,33509126,33326750,33303972,33146409,33079408,32897998,32415058,32376602,32237038,32151199,32081064,31837202,31684910,31654632,31500428,31082421,30946932,30809044,30730996,30636020,30587545,30575147,30421464,30376214,30196345,29602802,29329157,29230941,29221668,28984049,28901475,28874282,28716708,28666732,28577946,28522603,28423626,28406602,28339284,28256094,28160547,27914767,27375208,27302097,27124039,26978681,26572829,26165824,26159157,26079547,26046389,25769430,25760429,25742737,25681512,25639227,25634752,25531314,25464861,25426619,25333693,25264609,24704720,24665063,24618609,24580733,24525918,24424121,24312718,24265041,24074918,23975369,23891973,23826135,23591524,23360922,23239472,23112421,23018642,22965423,22617360,22585601,22504380,22351431,22331366,22321641,22243968,22109972,22024061,22002709,21964812,21791112,21726607,21709185,21705453,21421563,21263249,21245094,21126430,21105199,21036691,20797318,20685810,20682989,20682711,20622003,20235236,20012971,19856310,19686287,19626374,19584151,19284991,19183329,18985820,18949401,18620728,18505344,18425078,18310088,18213629,17854080,17643425,17301079,17200344,17167985,17043799,17016646,16953227,16627986,16172383,16082587,15940269,15867212,15814640,15736060,15592526,15531914,15157044,15107966,15063137,15014009,14766211,14715079,14669329,14647445,14647410,14639103,14607700,12802277,12569386,12548549,12429655,12414627,12116240,12077092,12010891,11783110,11265759,11224571,10980615,10896788,10871368,10636916,10398437,9811934,9660945,9482899,9285560,9214508,9098646,8653691,8564959,8553070,38504385,38270141,37664931,37648039,37610394,37596505,37488750,36991117,36916534,36469259,36203070,36049049,35942952,35879950,35751569,35456471,35199612,35151205,35034624,34717960,34528447,34362797,34329870,34320363,34070531,33746597,33608451,33605573,33529121,33372356,33293694,33097490,33053339,32737864,32628850,32524577,32439219,32432764,32429474,32398773,32366274,32323744,32314446,32043194,31912090,31721429,31489963,31481467,31388669,31242417,31177911,31056731,30997579,30979374,30915745,30779466,30745456,30741461,30664791,30617054,30530919,30389135,30212393,29960168,29938690,29749509,29703253,29693254,29551247,29512734,29468299,29393426,29065177,28938919,28924364,28867604,28827661,28821833,28670958,28440445,28417919,28393199,28348487,28244607,28199217,28188630,28174172,27595937,27528036,27492861,27432539,26817584,26747772,26625141,26464677,26284758,26261604,26171675,26019136,25931195,25893305,25684678,25680269,25523445,25482028,25393365,25389115,25373906,25370208,25267569,25119169,25060566,24928394,24659668,24613014,24386371,24102952,23981608,23832538,23817620,23668999,23592428,23362281,23221074,23047509,22860091,22748914,22710759,22377565,22316667,22301403,22266936,22158539,22028478,22020746,21898662,21835029,21465659,21412070,21352803,21294585,21289291,21152044,21112326,20862427,20734429,20565773,20404275,20301642,20118412,20101697,19752858,19690946,19528490,19341727,19321257,19144825,18823382,18519681,18471510,17997817,17994767,17469085,17436386,17390050,17353364,17132729,17023741,16613914,16478646,16436638,16135802,15886208,15280432,15173084,15069531,15033661,15031030,15028714,12952364,12813045,12720172,12576474,12417513,12209716,12136244,12023040,11920286,11866987,11818334,11779503,11700304,11571638,11274206,10781087,10647180,10092624,9741623,9582123,8861901,8637600,38509727,36916236,36377587,36219392,36053032,35863523,35318442,35220882,34785655,34383767,33768677,33760133,33546553,33495811,33327804,33199824,32886291,32029901,31681835,31432189,31221662,30820854,30705034,30659096,30251589,29922945,29856490,29734252,29725250,29696816,29331421,29103024,28852126,28674107,28655924,28638476,28631567,28445620,28415588,28370334,28145479,28055015,28042090,27833918,27685626,27492974,27438138,27412941,27286257,27279345,27060206,26986629,26977879,26848620,26383977,26341919,26339396,26077733,25890228,25695693,25114173,25061104,24504368,24235142,24211445,24078030,24052079,23863096,23800974,23538390,23470568,23298711,23226455,23207623,23152365,23139211,22674574,22534828,22357933,22314103,22310290,22130069,22033265,21968601,21945631,21782795,21726812,21597466,21540640,21492476,20667911,20581473,20577838,20564330,20350217,20307265,19916025,19624886,19538865,19273710,19270816,19270646,19266212,19064568,18783722,18664273,18321803,18310076,18178612,17873119,16959612,16865698,16288847,15855639,15846069,15708501,15588252,15350224,15314162,15240101,15166010,14630914,12857746,12801888,12740389,12631740,12618756,12226080,12191474,11779505,11432852,11264182,10995777,10846168,10557285,9843571,37962020,36418055,34163033,33417952,33347393,32929850,32573775,32434004,31970414,31591477,30718277,30653987,30444564,30060237,29986996,29924446,28376920,28356064,28349818,28240243,2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Functional filter for whole-genome sequencing data identifies HHT and stress-associated non-coding SMAD4 polyadenylation site variants >5 kb from coding DNA.

Xiao S, Kai Z, Murphy D, Li D, Patel D, Bielowka AM, Bernabeu-Herrero ME, Abdulmogith A, Mumford AD, Westbury SK, Aldred MA, Vargesson N, Caulfield MJ; Genomics England Research Consortium; Shovlin CL. Xiao S, et al. Am J Hum Genet. 2023 Nov 2;110(11):1903-1918. doi: 10.1016/j.ajhg.2023.09.005. Epub 2023 Oct 9. Am J Hum Genet. 2023. PMID: 37816352 Free PMC article.

Methylation status, mRNA and protein expression of the SMAD4 gene in patients with non-melanocytic skin cancers.

Gürsel Ürün Y, Budak M, Usturalı Keskin E. Gürsel Ürün Y, et al. Mol Biol Rep. 2023 Sep;50(9):7295-7304. doi: 10.1007/s11033-023-08656-2. Epub 2023 Jul 10. Mol Biol Rep. 2023. PMID: 37428273

SMAD4 Expression in Monocytes as a Potential Biomarker for Atherosclerosis Risk in Patients with Obstructive Sleep Apnea.

Díaz-García E, García-Sánchez A, Sánz-Rubio D, Alfaro E, López-Fernández C, Casitas R, Mañas Baena E, Cano-Pumarega I, Cubero P, Marin-Oto M, López-Collazo E, Marin JM, García-Río F, Cubillos-Zapata C. Díaz-García E, et al. Int J Mol Sci. 2023 Apr 26;24(9):7900. doi: 10.3390/ijms24097900. Int J Mol Sci. 2023. PMID: 37175608 Free PMC article.

Loss of function SMAD4 nonstop mutations in human cancer.

Bauer AH, Basta DW, Hornick JL, Dong F. Bauer AH, et al. Histopathology. 2023 Jun;82(7):1098-1104. doi: 10.1111/his.14880. Epub 2023 Mar 14. Histopathology. 2023. PMID: 36740808

A novel germline SMAD4 variant detected in a Japanese family with juvenile polyposis syndrome and hereditary hemorrhagic telangiectasia.

Kananazawa Y, Yamada T, Yamaguchi T, Saito Y, Kakinuma D, Masuda Y, Ando F, Ohashi R, Eguchi H, Okazaki Y, Ishida H, Yoshida H. Kananazawa Y, et al. Jpn J Clin Oncol. 2023 Mar 7;53(3):275-279. doi: 10.1093/jjco/hyac189. Jpn J Clin Oncol. 2023. PMID: 36546711

SMAD4 loss-of-function mutation predisposes to congenital heart disease.

Wang Y, Xu YJ, Yang CX, Huang RT, Xue S, Yuan F, Yang YQ. Wang Y, et al. Eur J Med Genet. 2023 Jan;66(1):104677. doi: 10.1016/j.ejmg.2022.104677. Epub 2022 Dec 7. Eur J Med Genet. 2023. PMID: 36496093

Multiomics of Colorectal Cancer Organoids Reveals Putative Mediators of Cancer Progression Resulting from SMAD4 Inactivation.

Dijkstra JJ, Neikes HK, Rezaeifard S, Ma X, Voest EE, Tauriello DVF, Vermeulen M. Dijkstra JJ, et al. J Proteome Res. 2023 Jan 6;22(1):138-151. doi: 10.1021/acs.jproteome.2c00551. Epub 2022 Nov 30. J Proteome Res. 2023. PMID: 36450103 Free PMC article.

Myhre syndrome is caused by dominant-negative dysregulation of SMAD4 and other co-factors.

Alankarage D, Enriquez A, Steiner RD, Raggio C, Higgins M, Milnes D, Humphreys DT, Duncan EL, Sparrow DB, Giampietro PF, Chapman G, Dunwoodie SL. Alankarage D, et al. Differentiation. 2022 Nov-Dec;128:1-12. doi: 10.1016/j.diff.2022.09.002. Epub 2022 Sep 24. Differentiation. 2022. PMID: 36194927 Free PMC article.

Review of the Pathologic Characteristics in Myhre Syndrome: Gain-of-Function Pathogenic Variants in SMAD4 cause a Multisystem Fibroproliferative Response.

Starr LJ, Lindsay ME, Perry D, Gheewalla G, VanderLaan PA, Majid A, Strange C, Costea GC, Lungu A, Lin AE. Starr LJ, et al. Pediatr Dev Pathol. 2022 Nov-Dec;25(6):611-623. doi: 10.1177/10935266221079569. Epub 2022 Sep 17. Pediatr Dev Pathol. 2022. PMID: 36120950

Hereditary haemorrhagic telangiectasia in Danish patients with pathogenic variants in SMAD4: a nationwide study.

Jelsig AM, Kjeldsen A, Christensen LL, Bertelsen B, Karstensen JG, Brusgaard K, Torring PM. Jelsig AM, et al. J Med Genet. 2023 May;60(5):464-468. doi: 10.1136/jmg-2022-108766. Epub 2022 Aug 29. J Med Genet. 2023. PMID: 36038259

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