PubMed for id: 7046

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36599937,36584339,36566567,35327565,34346740,34311327,34220303,33964734,33693090,33604683,33570811,33508008,33256177,32062130,31651066,31390053,31300967,30948511,30513140,30219046,30212788,30184463,29971498,29706644,29208458,29183791,28632033,27543359,27112580,26919284,26872091,26620926,26616150,26548632,26472812,26165686,26074400,25715477,25525159,25502482,25273091,25125747,25110237,24981199,24954139,24747516,24512448,24443023,24333532,23832740,23358096,23349840,23166821,22911926,22905183,22473997,22414221,22292045,22136666,22078045,22006998,21858550,21751154,21677877,21304536,21225232,21224855,20924066,20705955,20500843,20458730,20429896,20101143,19930569,19882361,19711426,19690145,19608716,19592635,19586667,19538729,19509225,19401691,19390964,19214138,19116361,18778720,18703712,18421475,17936924,17890272,17848956,17705854,17607123,17575241,17507611,17072348,16947635,16857807,16791849,16596670,16170343,15955593,15863158,15860866,15599934,15505640,15385056,15317461,15177479,12947057,12446693,11867510,11746979,9661882,9472030,9439661,8521960,8242743,7774578,38328944,37327315,36994542,36646950,35501461,35188624,34982346,34930205,34884451,34826189,34546211,33731513,33684566,33408307,33062039,33052230,32794622,32751693,32635855,32210029,32152251,31831099,31676288,31582001,31545479,31545407,31339433,31182152,30943320,30804470,30710564,30387848,30335615,30142896,30135214,30032656,29735548,29662646,29531222,29235674,28847661,28815607,28625921,28574613,28489883,28277133,28251559,28146434,27885255,27879313,27835901,27764818,27508510,27445263,27248167,27234654,27105506,26720610,26652004,26357964,26187313,25622187,24880985,24816588,24558198,24367547,24344637,23899993,22803051,22532183,22100658,22088447,21978186,21924348,21821041,21785915,21478266,21429769,20445748,20427239,20368424,20354825,20101206,20052600,19995547,19936899,19883511,19672284,19542084,19375841,19299112,19036501,19004027,18925687,18781618,18721526,18683732,18474728,17845732,17652900,17238135,17087113,16980081,16928994,16528739,16428477,16314481,15938776,15833881,15661740,15382067,15178549,15146427,12358857,12017275,11820800,11583628,10025408,9774674,9525694,9417915,9346908,9215638,9045666,8576253,8530343,8530052,8235612,37743142,36791912,35853811,35643962,35264186,35017630,34729648,34355836,34341185,33905626,33762162,33545359,33436942,33342936,33157202,32499481,32324847,31996061,31878829,31614978,31196201,31171625,31098894,31027492,30987013,30667085,30655341,30496724,30115383,29543232,29274137,28981109,28522256,26807171,26766164,26583147,26542979,26037400,25998683,25882708,25825445,25169976,24978044,24939309,24860093,24103590,22739178,22714950,22651914,22314103,22096025,22087763,22015652,21962132,21815248,21629263,21295082,21170488,21030067,20662850,20571025,20428796,19916025,19908237,19863607,19639490,19626999,19601999,19426152,19293232,19255252,19229971,19147499,18546940,18333754,18252868,18202754,17848193,17649947,17319955,17203972,16998703,16407286,16049346,15961557,15546867,15498571,15465036,15305380,15155736,15148321,14718519,14597484,12873459,12429842,12145287,12082094,11850637,9545258,9346894,7518616,35920128,35721120,35323108,33955520,32920014,32535034,32423083,31676070,31581360,29572483,28633389,28373289,27527810,27171242,26169354,26152726,26150340,25826292,25149540,24793577,24344132,24243761,23723426,23624079,23548068,23424236,23027871,22848678,22624557,22496417,22290546,21539622,21423151,21172820,20675371,19688145,19595713,18550062,18541723,18469808,18456797,18223258,18174246,18097622,17365852,16835936,15946939,15731757,15657037,15247277,14633705,11420127,11356828,11163210,9738003,9435577,9335507,8980228,8752209,8555189,1319842,32581266,27162619,27048361,26679521,25173755,24771066,24399296,22617150,22610405,21358634,21127043,20959473,20856203,19732720,18711258,18591668,16754747,15597342,15009106,12607775,12151385,11438668,11102446,10085121,9335505,9136927,7890683,36889311,31746425,28518142,27693460,24279395,23874384,23734265,21441952,21186301,21068203,20301312,20207738,19639654,18316594,17099224,16950395,12000714,11387212,11100470,29490279,22278155,21465483,20086175,19998449,19299629,18974388,18758450,16027725,15102771,14722617,10757800,9748228,27292796,26583432,24263861,19506300,18511908,18243111,15359284,14704634,12202987,12015308,9892009,9865696,1326540,30836988,18922473,15702480,15356634,15350225,12857866,11483955,8622651,7852346,25134534,22344298,20599261,19494318,17657819,15459392,14657019,12060054,9856985,1333888,22706160,19758997,19556242,19139564,17878231,17314099,15761148,15611116,14580334,9311995,8242742,25872870,19736306,18625725,14612425,11157754,9759503,8774881,7791754,20663871,10716993,9436979,24347165,22773947,18095342,15496141,14517293,12065756,11278302,11278251,12543979,9872992,21791611,23868260,9389648,16806156,25893292,24551192,11279102,29742433,24850914,23455636,19505916,20301299,20437058,23973329,32281291,20587546,23064961,16289162,19012493,20538960,18174230,31985874,23788249,20403997,18978678,32062451,19336370,24658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Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome.

Fortugno P, Monetta R, Cinquina V, Rigon C, Boaretto F, De Luca C, Zoppi N, Di Leandro L, De Domenico E, Di Daniele A, Ippoliti R, Angelucci F, Di Cesare E, De Paulis R, Salviati L, Colombi M, Brancati F, Ritelli M. Fortugno P, et al. Eur J Hum Genet. 2023 May;31(5):596-601. doi: 10.1038/s41431-022-01279-4. Epub 2023 Jan 4. Eur J Hum Genet. 2023. PMID: 36599937

Siblings with profound connective tissue disease: First report of biallelic TGFBR1-related Loeys-Dietz syndrome.

Starr LJ, Lindsay ME, Lino Cardenas CL, Yetman AT. Starr LJ, et al. Am J Med Genet A. 2023 Mar;191(3):786-793. doi: 10.1002/ajmg.a.63075. Epub 2022 Dec 30. Am J Med Genet A. 2023. PMID: 36584339

Shear-mediated ALK5 expression regulates endothelial activation.

Pang KT, Ghim M, Sarathchandra P, Warboys CM, Yacoub MH, Chester AH, Weinberg PD. Pang KT, et al. Biochem Biophys Res Commun. 2023 Jan 29;642:90-96. doi: 10.1016/j.bbrc.2022.12.058. Epub 2022 Dec 21. Biochem Biophys Res Commun. 2023. PMID: 36566567 Free article.

Role of TGF-Beta Signaling in Beta Cell Proliferation and Function in Diabetes.

Wang HL, Wang L, Zhao CY, Lan HY. Wang HL, et al. Biomolecules. 2022 Feb 26;12(3):373. doi: 10.3390/biom12030373. Biomolecules. 2022. PMID: 35327565 Free PMC article. Review.

hiPSC Modeling of Lineage-Specific Smooth Muscle Cell Defects Caused by TGFBR1^A230T Variant, and Its Therapeutic Implications for Loeys-Dietz Syndrome.

Zhou D, Feng H, Yang Y, Huang T, Qiu P, Zhang C, Olsen TR, Zhang J, Chen YE, Mizrak D, Yang B. Zhou D, et al. Circulation. 2021 Oct 5;144(14):1145-1159. doi: 10.1161/CIRCULATIONAHA.121.054744. Epub 2021 Aug 4. Circulation. 2021. PMID: 34346740 Free PMC article.

Identification of novel biomarkers for arthrofibrosis after total knee arthroplasty in animal models and clinical patients.

Chen X, Wang Z, Huang Y, Deng W, Zhou Y, Chu M. Chen X, et al. EBioMedicine. 2021 Aug;70:103486. doi: 10.1016/j.ebiom.2021.103486. Epub 2021 Jul 23. EBioMedicine. 2021. PMID: 34311327 Free PMC article.

The Molecular Genetics of Marfan Syndrome.

Du Q, Zhang D, Zhuang Y, Xia Q, Wen T, Jia H. Du Q, et al. Int J Med Sci. 2021 May 27;18(13):2752-2766. doi: 10.7150/ijms.60685. eCollection 2021. Int J Med Sci. 2021. PMID: 34220303 Free PMC article. Review.

The effect of TGFβRI inhibition on extracellular matrix structure and stiffness in hypertrophic scar-specific fibroblast-derived matrix models.

Raktoe RS, van Haasterecht L, Antonovaite N, Bartolini L, van Doorn R, van Zuijlen PPM, Groot ML, El Ghalbzouri A. Raktoe RS, et al. Biochem Biophys Res Commun. 2021 Jun 25;559:245-251. doi: 10.1016/j.bbrc.2021.04.071. Epub 2021 May 5. Biochem Biophys Res Commun. 2021. PMID: 33964734 Free article. No abstract available.

Unique Mechanism by Which TGFBR1 Variants Cause 2 Distinct System Diseases　- Loeys-Dietz Syndrome and Multiple Self-Healing Squamous Epithelioma.

Fujiwara T, Takeda N, Ishii S, Morita H, Komuro I. Fujiwara T, et al. Circ Rep. 2019 Nov 2;1(11):487-492. doi: 10.1253/circrep.CR-19-0098. Circ Rep. 2019. PMID: 33693090 Free PMC article. Review.

Role and clinical significance of TGF‑β1 and TGF‑βR1 in malignant tumors (Review).

Wang J, Xiang H, Lu Y, Wu T. Wang J, et al. Int J Mol Med. 2021 Apr;47(4):55. doi: 10.3892/ijmm.2021.4888. Epub 2021 Feb 19. Int J Mol Med. 2021. PMID: 33604683 Free PMC article. Review.

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