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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 106296792.

Endothelial cell SMAD6 balances Alk1 function to regulate adherens junctions and hepatic vascular development

Molly R. Kulikauskas, Morgan Oatley, Tianji Yu, Ziqing Liu, Lauren Matsumura, Elise Kidder, Dana Ruter, Victoria L. Bautch

Development. 2023 Nov 1; 150(21): dev201811. Published online 2023 Nov 3. doi: 10.1242/dev.201811

PMCID:: PMC10629679

Abstract Article

Select item 88011483.

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 82091984.

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 82060515.

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 80503896.

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 77540167.

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 75495648.

Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease

Fadi I. Musfee, Dongchuan Guo, Amélie C. Pinard, Ellen M. Hostetler, Elizabeth E. Blue, Deborah A. Nickerson, University of Washington Center for Mendelian Genomics (UW‐CMG), Michael J. Bamshad, Dianna M. Milewicz, Siddharth K. Prakash

Mol Genet Genomic Med. 2020 Oct; 8(10): e1406. Published online 2020 Aug 3. doi: 10.1002/mgg3.1406

PMCID:: PMC7549564

Abstract Article PDF–250K

Select item 74627479.

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 720397010.

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 707754211.

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

Select item 677762512.

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 650302213.

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 602138214.

Nuclear Smad6 promotes gliomagenesis by negatively regulating PIAS3-mediated STAT3 inhibition

Jiantong Jiao, Rui Zhang, Zheng Li, Ying Yin, Xiangming Fang, Xiaopeng Ding, Ying Cai, Shudong Yang, Huijun Mu, Da Zong, Yuexin Chen, Yansong Zhang, Jian Zou, Junfei Shao, Zhaohui Huang

Nat Commun. 2018; 9: 2504. Published online 2018 Jun 27. doi: 10.1038/s41467-018-04936-9

PMCID:: PMC6021382

Abstract Article PDF–2.7M

Select item 593086415.

Increased A20-E3 ubiquitin ligase interactions in bid-deficient glia attenuate TLR3- and TLR4-induced inflammation

Sinéad Kinsella, Michael Fichtner, Orla Watters, Hans-Georg König, Jochen H. M. Prehn

J Neuroinflammation. 2018; 15: 130. Published online 2018 May 2. doi: 10.1186/s12974-018-1143-3

PMCID:: PMC5930864

Abstract Article PDF–2.0M

Select item 588478616.

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 581021317.

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 569124618.

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 566063219.

AMPK Downregulates ALK2 via Increasing the Interaction between Smurf1 and Smad6, leading to inhibition of in vitro Osteogenic Differentiation

Hui Lin, Ying Ying, Yuan-Yuan Wang, Gang Wang, Shan-Shan Jiang, Deiang Huang, Lingyu Luo, Ye-Guang Chen, Louis C. Gerstenfeld, Zhijun Luo

Biochim Biophys Acta. Author manuscript; available in PMC 2018 Dec 1.

Published in final edited form as: Biochim Biophys Acta. 2017 Dec; 1864(12): 2369–2377. Published online 2017 Aug 25. doi: 10.1016/j.bbamcr.2017.08.009

PMCID:: PMC5660632

Abstract Article PDF–600K

Select item 537173020.

Systematic protein–protein interaction mapping for clinically relevant human GPCRs

Kate Sokolina, Saranya Kittanakom, Jamie Snider, Max Kotlyar, Pascal Maurice, Jorge Gandía, Abla Benleulmi‐Chaachoua, Kenjiro Tadagaki, Atsuro Oishi, Victoria Wong, Ramy H Malty, Viktor Deineko, Hiroyuki Aoki, Shahreen Amin, Zhong Yao, Xavier Morató, David Otasek, Hiroyuki Kobayashi, Javier Menendez, Daniel Auerbach, Stephane Angers, Natasa Pržulj, Michel Bouvier, Mohan Babu, Francisco Ciruela, Ralf Jockers, Igor Jurisica, Igor Stagljar

Mol Syst Biol. 2017 Mar; 13(3): 918. Published online 2017 Mar 15. doi: 10.15252/msb.20167430

PMCID:: PMC5371730

Abstract Article PDF–4.1M

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PMC Links for GEO Profiles (Select 77966194) (60)
PMC
PREDICTED: Homo sapiens neurobeachin like 2 (NBEAL2), transcript variant X9, mRN...
PREDICTED: Homo sapiens neurobeachin like 2 (NBEAL2), transcript variant X9, mRNA
gi|2462588393|ref|XM_054345844.1|

Nucleotide
Mus musculus stomatin (Epb7.2)-like 2, mRNA (cDNA clone MGC:6777 IMAGE:2609584),...
Mus musculus stomatin (Epb7.2)-like 2, mRNA (cDNA clone MGC:6777 IMAGE:2609584), complete cds
gi|13097353|gb|BC003425.1|

Nucleotide
Mus musculus unc-13 homolog B (C. elegans), mRNA (cDNA clone MGC:189948 IMAGE:90...
Mus musculus unc-13 homolog B (C. elegans), mRNA (cDNA clone MGC:189948 IMAGE:9088135), complete cds
gi|187956973|gb|BC157967.1|

Nucleotide
Mus musculus adult male testis cDNA, RIKEN full-length enriched library, clone:4...
Mus musculus adult male testis cDNA, RIKEN full-length enriched library, clone:4930435I17 product:hypothetical protein, full insert sequence
gi|74215504|dbj|AK132843.1|

Nucleotide

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