PMC Links for Protein (Select 13124879) - PMC

Select item 67605841.

Compound heterozygous variants in MYH11 underlie autosomal recessive megacystis-microcolon-intestinal hypoperistalsis syndrome in a Chinese family

Qin Wang, Jianming Zhang, Hui Wang, Qing Feng, Fuwei Luo, Jiansheng Xie

J Hum Genet. 2019; 64(11): 1067–1073. Published online 2019 Aug 19. doi: 10.1038/s10038-019-0651-z

PMCID:: PMC6760584

Abstract Article PDF–686K

Select item 62865782.

Novel variants in the ACTA2 and MYH11 genes in a Cypriot family with thoracic aortic aneurysms: a case report

Anna Keravnou, Evy Bashiardes, Kyriaki Michailidou, Marinos Soteriou, Areti Moushi, Marios Cariolou

BMC Med Genet. 2018; 19: 208. Published online 2018 Dec 7. doi: 10.1186/s12881-018-0728-0

PMCID:: PMC6286578

Abstract Article PDF–999K

Select item 54950303.

Functional validation reveals the novel missense V419L variant in TGFBR2 associated with Loeys–Dietz syndrome (LDS) impairs canonical TGF-β signaling

Margot A. Cousin, Michael T. Zimmermann, Angela J. Mathison, Patrick R. Blackburn, Nicole J. Boczek, Gavin R. Oliver, Gwen A. Lomberk, Raul A. Urrutia, David R. Deyle, Eric W. Klee

Cold Spring Harb Mol Case Stud. 2017 Jul; 3(4): a001727. doi: 10.1101/mcs.a001727

PMCID:: PMC5495030

Abstract Article PDF–1.7M

Select item 51273594.

Highly selective inhibition of myosin motors provides the basis of potential therapeutic application

Serena Sirigu, James J. Hartman, Vicente José Planelles-Herrero, Virginie Ropars, Sheila Clancy, Xi Wang, Grace Chuang, Xiangping Qian, Pu-Ping Lu, Edward Barrett, Karin Rudolph, Christopher Royer, Bradley P. Morgan, Enrico A. Stura, Fady I. Malik, Anne M. Houdusse

Proc Natl Acad Sci U S A. 2016 Nov 22; 113(47): E7448–E7455. Published online 2016 Nov 4. doi: 10.1073/pnas.1609342113

PMCID:: PMC5127359

Abstract Article PDF–1.5M

Select item 48558215.

Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations

J. K. Poninska, Z. T. Bilinska, M. Franaszczyk, E. Michalak, M. Rydzanicz, E. Szpakowski, A. Pollak, B. Milanowska, G. Truszkowska, P. Chmielewski, A. Sioma, H. Janaszek-Sitkowska, A. Klisiewicz, I. Michalowska, M. Makowiecka-Ciesla, P. Kolsut, P. Stawinski, B. Foss-Nieradko, M. Szperl, J. Grzybowski, P. Hoffman, A. Januszewicz, M. Kusmierczyk, R. Ploski

J Transl Med. 2016; 14: 115. Published online 2016 May 4. doi: 10.1186/s12967-016-0870-4

PMCID:: PMC4855821

Abstract Article PDF–1.8M

Select item 47855376.

A deleterious MYH11 mutation causing familial thoracic aortic dissection

Norifumi Takeda, Hiroyuki Morita, Daishi Fujita, Ryo Inuzuka, Yuki Taniguchi, Kan Nawata, Issei Komuro

Hum Genome Var. 2015; 2: 15028. Published online 2015 Aug 6. doi: 10.1038/hgv.2015.28

PMCID:: PMC4785537

Abstract Article PDF–390K

Select item 31036327.

A Complex Phenotype of Peripheral Neuropathy, Myopathy, Hoarseness and Hearing Loss is Linked to an Autosomal Dominant Mutation in MYH14

Byung-Ok Choi, Sung Hee Kang, Young Se Hyun, Sumaria Kanwal, Sun Wha Park, Heasoo Koo, Sang-Beom Kim, Young-Chul Choi, Jeong Hyun Yoo, Jong-Won Kim, Kee Duk Park, Kyoung-Gyu Choi, Song Ja Kim, Stephan Züchner, Ki Wha Chung

Hum Mutat. Author manuscript; available in PMC 2012 Jun 1.

Published in final edited form as: Hum Mutat. 2011 Jun; 32(6): 669–677. Published online 2011 Apr 7. doi: 10.1002/humu.21488

PMCID:: PMC3103632

Abstract Article PDF–932K

Select item 26429158.

Proteomic and phototoxic characterization of melanolipofuscin: Correlation to disease and model for its origin

Sarah Warburton, Wayne E. Davis, Katie Southwick, Huijun Xin, Adam T. Woolley, Gregory F. Burton, Craig D. Thulin

Mol Vis. 2007; 13: 318–329. Published online 2007 Mar 1.

PMCID:: PMC2642915

Abstract Article PDF–555K

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