PMC Links for Nucleotide (Select 1653960615) - PMC

Select item 55316111.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 41095452.

KLHL40 deficiency destabilizes thin filament proteins and promotes nemaline myopathy

Ankit Garg, Jason O’Rourke, Chengzu Long, Jonathan Doering, Gianina Ravenscroft, Svetlana Bezprozvannaya, Benjamin R. Nelson, Nadine Beetz, Lin Li, She Chen, Nigel G. Laing, Robert W. Grange, Rhonda Bassel-Duby, Eric N. Olson

J Clin Invest. 2014 Aug 1; 124(8): 3529–3539. Published online 2014 Jun 24. doi: 10.1172/JCI74994

PMCID:: PMC4109545

Abstract Article PDF–3.2M

Select item 37107483.

Mutations in KLHL40 Are a Frequent Cause of Severe Autosomal-Recessive Nemaline Myopathy

Gianina Ravenscroft, Satoko Miyatake, Vilma-Lotta Lehtokari, Emily J. Todd, Pauliina Vornanen, Kyle S. Yau, Yukiko K. Hayashi, Noriko Miyake, Yoshinori Tsurusaki, Hiroshi Doi, Hirotomo Saitsu, Hitoshi Osaka, Sumimasa Yamashita, Takashi Ohya, Yuko Sakamoto, Eriko Koshimizu, Shintaro Imamura, Michiaki Yamashita, Kazuhiro Ogata, Masaaki Shiina, Robert J. Bryson-Richardson, Raquel Vaz, Ozge Ceyhan, Catherine A. Brownstein, Lindsay C. Swanson, Sophie Monnot, Norma B. Romero, Helge Amthor, Nina Kresoje, Padma Sivadorai, Cathy Kiraly-Borri, Goknur Haliloglu, Beril Talim, Diclehan Orhan, Gulsev Kale, Adrian K. Charles, Victoria A. Fabian, Mark R. Davis, Martin Lammens, Caroline A. Sewry, Adnan Manzur, Francesco Muntoni, Nigel F. Clarke, Kathryn N. North, Enrico Bertini, Yoram Nevo, Ekkhard Willichowski, Inger E. Silberg, Haluk Topaloglu, Alan H. Beggs, Richard J.N. Allcock, Ichizo Nishino, Carina Wallgren-Pettersson, Naomichi Matsumoto, Nigel G. Laing

Am J Hum Genet. 2013 Jul 11; 93(1): 6–18. doi: 10.1016/j.ajhg.2013.05.004

PMCID:: PMC3710748

Abstract Article PDF–2.4M

Select item 36589464.

Update on the Kelch-like (KLHL) gene family

Bajinder S Dhanoa, Tiziana Cogliati, Akhila G Satish, Elspeth A Bruford, James S Friedman

Hum Genomics. 2013; 7(1): 13. Published online 2013 May 15. doi: 10.1186/1479-7364-7-13

PMCID:: PMC3658946

Abstract Article PDF–1.3M

Select item 58412735.

Novel biomarker ZCCHC13 revealed by integrating DNA methylation and mRNA expression data in non-obstructive azoospermia

Zhiming Li, Shuai Chen, Yufeng Yang, Xuan Zhuang, Chi-Meng Tzeng

Cell Death Discov. 2018; 4: 36. Published online 2018 Feb 26. doi: 10.1038/s41420-018-0033-x

PMCID:: PMC5841273

Abstract Article PDF–6.2M

Select item 46502996.

Next generation sequencing in a large cohort of patients presenting with neuromuscular disease before or at birth

Emily J. Todd, Kyle S. Yau, Royston Ong, Jennie Slee, George McGillivray, Christopher P. Barnett, Goknur Haliloglu, Beril Talim, Zuhal Akcoren, Ariana Kariminejad, Anita Cairns, Nigel F. Clarke, Mary-Louise Freckmann, Norma B. Romero, Denise Williams, Caroline A Sewry, Alison Colley, Monique M. Ryan, Cathy Kiraly-Borri, Padma Sivadorai, Richard J.N. Allcock, David Beeson, Susan Maxwell, Mark R. Davis, Nigel G. Laing, Gianina Ravenscroft

Orphanet J Rare Dis. 2015; 10: 148. Published online 2015 Nov 17. doi: 10.1186/s13023-015-0364-0

PMCID:: PMC4650299

Abstract Article PDF–2.0M

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