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Select item 109826351.

Homozygous SMAD6 variants in two unrelated patients with craniosynostosis and radioulnar synostosis

Ilse Luyckx, Isaac Scott Walton, Nele Boeckx, Kristof Van Schil, Chingyiu Pang, Mania De Praeter, Helen Lord, Christopher Mark Watson, David T Bonthron, Lut Van Laer, Andrew O M Wilkie, Bart Loeys

J Med Genet. 2024 Apr; 61(4): 363–368. Published online 2024 Jan 30. doi: 10.1136/jmg-2023-109151

PMCID:: PMC10982635

Abstract Article PDF–828K

Select item 88011482.

A genotype and phenotype analysis of SMAD6 mutant patients with radioulnar synostosis

Fang Shen, Yongjia Yang, Pengcheng Li, Yu Zheng, Zhenqing Luo, Yuyan Fu, Guanghui Zhu, Haibo Mei, Shanlin Chen, Yimin Zhu

Mol Genet Genomic Med. 2022 Jan; 10(1): e1850. Published online 2021 Dec 24. doi: 10.1002/mgg3.1850

PMCID:: PMC8801148

Abstract Article PDF–1.5M

Select item 82060513.

SMAD6 transduces endothelial cell flow responses required for blood vessel homeostasis

Dana L. Ruter, Ziqing Liu, Kimlynn M. Ngo, Shaka X, Allison Marvin, Danielle B. Buglak, Elise J. Kidder, Victoria L. Bautch

Angiogenesis. 2021; 24(2): 387–398. Published online 2021 Mar 29. doi: 10.1007/s10456-021-09777-7

PMCID:: PMC8206051

Abstract Article PDF–2.7M

Select item 74627474.

SMAD6 variants in craniosynostosis: genotype and phenotype evaluation

Eduardo Calpena, Araceli Cuellar, Krithi Bala, Sigrid M. A. Swagemakers, Nils Koelling, Simon J. McGowan, Julie M. Phipps, Meena Balasubramanian, Michael L. Cunningham, Sofia Douzgou, Wanda Lattanzi, Jenny E. V. Morton, Deborah Shears, Astrid Weber, Louise C. Wilson, Helen Lord, Tracy Lester, David Johnson, Steven A. Wall, Stephen R. F. Twigg, Irene M. J. Mathijssen, Freya Boardman-Pretty, Genomics England Research Consortium, Simeon A. Boyadjiev, Andrew O. M. Wilkie

Genet Med. 2020; 22(9): 1498–1506. Published online 2020 Jun 5. doi: 10.1038/s41436-020-0817-2

Correction in:: Genet Med. 2020; 22(9): 1567.

PMCID:: PMC7462747

Abstract Article PDF–1.4M

Select item 67776255.

Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy

Ilse Luyckx, Gretchen MacCarrick, Marlies Kempers, Josephina Meester, Céline Geryl, Olivier Rombouts, Nils Peeters, Charlotte Claes, Nele Boeckx, Natzi Sakalihasan, Adeline Jacquinet, Alexander Hoischen, Geert Vandeweyer, Sarah Van Lent, Johan Saenen, Emeline Van Craenenbroeck, Janneke Timmermans, Anthonie Duijnhouwer, Harry Dietz, Lut Van Laer, Bart Loeys, Aline Verstraeten

Eur J Hum Genet. 2019 Jul; 27(7): 1044–1053. Published online 2019 Feb 22. doi: 10.1038/s41431-019-0363-z

PMCID:: PMC6777625

Abstract Article PDF–840K

Select item 65030226.

A novel SMAD6 variant in a patient with severely calcified bicuspid aortic valve and thoracic aortic aneurysm

Jong Eun Park, Jin Seok Park, Shin Yi Jang, Seok Hee Park, Jong‐Won Kim, Chang‐Seok Ki, Duk‐Kyung Kim

Mol Genet Genomic Med. 2019 May; 7(5): e620. Published online 2019 Mar 8. doi: 10.1002/mgg3.620

PMCID:: PMC6503022

Abstract Article PDF–633K

Select item 58847867.

SMAD6 overexpression leads to accelerated myogenic differentiation of LMNA mutated cells

Alexandre Janin, Delphine Bauer, Francesca Ratti, Camille Valla, Anne Bertrand, Emilie Christin, Emilie Chopin, Nathalie Streichenberger, Gisèle Bonne, Vincent Gache, Tatiana Cohen, Alexandre Méjat

Sci Rep. 2018; 8: 5618. Published online 2018 Apr 4. doi: 10.1038/s41598-018-23918-x

PMCID:: PMC5884786

Abstract Article PDF–9.6M

Select item 56912468.

A genome-wide association study of LCH identifies a variant in SMAD6 associated with susceptibility

Erin C. Peckham-Gregory, Rikhia Chakraborty, Michael E. Scheurer, John W. Belmont, Harshal Abhyankar, Amel G. Sengal, Brooks P. Scull, Olive Eckstein, Daniel J. Zinn, Louisa Mayer, Albert Shih, Miriam Merad, D. Williams Parsons, Kenneth L. McClain, Philip J. Lupo, Carl E. Allen

Blood. 2017 Nov 16; 130(20): 2229–2232. Prepublished online 2017 Sep 21. doi: 10.1182/blood-2017-08-800565

PMCID:: PMC5691246

Article

Select item 48449679.

Smad6 determines BMP-regulated invasive behaviour of breast cancer cells in a zebrafish xenograft model

Miriam de Boeck, Chao Cui, Aat A Mulder, Carolina R Jost, Souichi Ikeno, Peter ten Dijke

Sci Rep. 2016; 6: 24968. Published online 2016 Apr 26. doi: 10.1038/srep24968

PMCID:: PMC4844967

Abstract Article PDF–1.7M

Select item 318415910.

Genetic Variants in TGF-β Pathway Are Associated with Ovarian Cancer Risk

Jikai Yin, Karen Lu, Jie Lin, Lei Wu, Michelle A. T. Hildebrandt, David W. Chang, Larissa Meyer, Xifeng Wu, Dong Liang

PLoS One. 2011; 6(9): e25559. Published online 2011 Sep 30. doi: 10.1371/journal.pone.0025559

PMCID:: PMC3184159

Abstract Article PDF–438K

Select item 775401611.

HNF1B inhibits cell proliferation via repression of SMAD6 expression in prostate cancer

Wei Lu, Jian Sun, Huihui Zhou, Fei Wang, Chunchun Zhao, Kai Li, Caibin Fan, Guanxiong Ding, Jianqing Wang

J Cell Mol Med. 2020 Dec; 24(24): 14539–14548. Published online 2020 Nov 10. doi: 10.1111/jcmm.16081

PMCID:: PMC7754016

Abstract Article PDF–1.1M

Select item 720397012.

Saliva exosomes-derived UBE2O mRNA promotes angiogenesis in cutaneous wounds by targeting SMAD6

Bobin Mi, Lang Chen, Yuan Xiong, Chenchen Yan, Hang Xue, Adriana C. Panayi, Jing Liu, Liangcong Hu, Yiqiang Hu, Faqi Cao, Yun Sun, Wu Zhou, Guohui Liu

J Nanobiotechnology. 2020; 18: 68. Published online 2020 May 6. doi: 10.1186/s12951-020-00624-3

PMCID:: PMC7203970

Abstract Article PDF–5.3M

Select item 581021313.

miR-186, a serum microRNA, induces endothelial cell apoptosis by targeting SMAD6 in Kawasaki disease

Rongzhou Wu, Danping Shen, Hareshwaree Sohun, Donghui Ge, Xianda Chen, Xuliang Wang, Ruiyao Chen, Yuqing Wu, Jingjing Zeng, Xing Rong, Xiaoping Su, Maoping Chu

Int J Mol Med. 2018 Apr; 41(4): 1899–1908. Published online 2018 Jan 18. doi: 10.3892/ijmm.2018.3397

PMCID:: PMC5810213

Abstract Article PDF–1.0M

Select item 504529314.

Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

Andrew T Timberlake, Jungmin Choi, Samir Zaidi, Qiongshi Lu, Carol Nelson-Williams, Eric D Brooks, Kaya Bilguvar, Irina Tikhonova, Shrikant Mane, Jenny F Yang, Rajendra Sawh-Martinez, Sarah Persing, Elizabeth G Zellner, Erin Loring, Carolyn Chuang, Amy Galm, Peter W Hashim, Derek M Steinbacher, Michael L DiLuna, Charles C Duncan, Kevin A Pelphrey, Hongyu Zhao, John A Persing, Richard P Lifton

eLife. 2016; 5: e20125. Published online 2016 Sep 8. doi: 10.7554/eLife.20125

PMCID:: PMC5045293

Abstract Article PDF–2.1M

Select item 361704115.

SMAD6 Contributes to Patient Survival in Non–Small Cell Lung Cancer and Its Knockdown Reestablishes TGF-β Homeostasis in Lung Cancer Cells

Hyo-Sung Jeon, Tatiana Dracheva, Sei-Hoon Yang, Daoud Meerzaman, Junya Fukuoka, Abbas Shakoori, Konstantin Shilo, William D. Travis, Jin Jen

Cancer Res. Author manuscript; available in PMC 2013 Apr 4.

Published in final edited form as: Cancer Res. 2008 Dec 1; 68(23): 9686–9692. doi: 10.1158/0008-5472.CAN-08-1083

PMCID:: PMC3617041

Abstract Article PDF–2.8M

Select item 349291316.

Nonsynonymous variants in the SMAD6 gene predispose to congenital cardiovascular malformation

Huay L Tan, Elise Glen, Ana Töpf, Darroch Hall, John J O'Sullivan, Linda Sneddon, Christopher Wren, Peter Avery, Richard J Lewis, Peter ten Dijke, Helen M Arthur, Judith A Goodship, Bernard D Keavney

Hum Mutat. 2012 Apr; 33(4): 720–727. Published online 2012 Jan 20. doi: 10.1002/humu.22030

PMCID:: PMC3492913

Abstract Article PDF–382K

Select item 288534417.

Smad2 and Smad6 as predictors of overall survival in oral squamous cell carcinoma patients

Flavia RR Mangone, Fernando Walder, Simone Maistro, Fátima S Pasini, Carlos N Lehn, Marcos B Carvalho, M Mitzi Brentani, Igor Snitcovsky, Miriam HH Federico

Mol Cancer. 2010; 9: 106. Published online 2010 May 12. doi: 10.1186/1476-4598-9-106

PMCID:: PMC2885344

Abstract Article PDF–1.1M

Select item 820919818.

Genetic variants in bone morphogenetic proteins signaling pathway might be involved in palatal rugae phenotype in humans

Alice Corrêa Silva-Sousa, Guido Artemio Marañón-Vásquez, Maria Bernadete Sasso Stuani, Peter Proff, Kesly Mary Ribeiro Andrades, Flares Baratto-Filho, Mírian Aiko Nakane Matsumoto, Eva Paddenberg, Erika Calvano Küchler, Christian Kirschneck

Sci Rep. 2021; 11: 12715. Published online 2021 Jun 16. doi: 10.1038/s41598-021-92169-0

PMCID:: PMC8209198

Abstract Article PDF–822K

Select item 805038919.

Arginine methylation of R81 in Smad6 confines BMP-induced Smad1 signaling

Jian Wu, Xi Chen, Prerna Sehgal, Tingwei Zhang, Olan Jackson-Weaver, Yongchao Gou, Victoria Bautch, Baruch Frenkel, Hongchen Sun, Jian Xu

J Biol Chem. 2021 Jan-Jun; 296: 100496. Published online 2021 Mar 3. doi: 10.1016/j.jbc.2021.100496

PMCID:: PMC8050389

Abstract Article PDF–2.8M

Select item 707754220.

Foxf2 and Smad6 co‐regulation of collagen 5A2 transcription is involved in the pathogenesis of intrauterine adhesion

Guobin Chen, Limin Liu, Jing Sun, Liying Zeng, Huihua Cai, Yuanli He

J Cell Mol Med. 2020 Mar; 24(5): 2802–2818. Published online 2020 Feb 5. doi: 10.1111/jcmm.14708

PMCID:: PMC7077542

Abstract Article PDF–3.2M

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