PMC Links for Nucleotide (Select 558757399) - PMC

Select item 55500101.

Nuclear/cytoplasmic transport defects in BBS6 underlie congenital heart disease through perturbation of a chromatin remodeling protein

Charles Anthony Scott, Autumn N. Marsden, Michael R. Rebagliati, Qihong Zhang, Xitiz Chamling, Charles C. Searby, Lisa M. Baye, Val C. Sheffield, Diane C. Slusarski

PLoS Genet. 2017 Jul; 13(7): e1006936. Published online 2017 Jul 28. doi: 10.1371/journal.pgen.1006936

PMCID:: PMC5550010

Article PDF–37M

Select item 37661802.

Bardet–Biedl syndrome proteins control the cilia length through regulation of actin polymerization

Victor Hernandez-Hernandez, Priyanka Pravincumar, Anna Diaz-Font, Helen May-Simera, Dagan Jenkins, Martin Knight, Philip L. Beales

Hum Mol Genet. 2013 Oct 1; 22(19): 3858–3868. Published online 2013 May 27. doi: 10.1093/hmg/ddt241

PMCID:: PMC3766180

Article PDF–1.6M

Select item 33144683.

Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis

Rivka A. Rachel, Helen L. May-Simera, Shobi Veleri, Norimoto Gotoh, Byung Yoon Choi, Carlos Murga-Zamalloa, Jeremy C. McIntyre, Jonah Marek, Irma Lopez, Alice N. Hackett, Matthew Brooks, Anneke I. den Hollander, Philip L. Beales, Tiansen Li, Samuel G. Jacobson, Raman Sood, Jeffrey R. Martens, Paul Liu, Thomas B. Friedman, Hemant Khanna, Robert K. Koenekoop, Matthew W. Kelley, Anand Swaroop

J Clin Invest. 2012 Apr 2; 122(4): 1233–1245. Published online 2012 Mar 26. doi: 10.1172/JCI60981

Correction in:: J Clin Invest. 2012 Aug 1; 122(8): 3025.

PMCID:: PMC3314468

Article PDF–1.6M

Select item 32838734.

Direct role of Bardet–Biedl syndrome proteins in transcriptional regulation

Cecilia Gascue, Perciliz L. Tan, Magdalena Cardenas-Rodriguez, Gabriela Libisch, Tamara Fernandez-Calero, Yangfan P. Liu, Soledad Astrada, Carlos Robello, Hugo Naya, Nicholas Katsanis, Jose L. Badano

J Cell Sci. 2012 Jan 15; 125(2): 362–375. doi: 10.1242/jcs.089375

PMCID:: PMC3283873

Article

Select item 30062785.

Contrasting vascular effects caused by loss of Bardet-Biedl syndrome genes

Andreas M. Beyer, Deng-Fu Guo, Val C. Sheffield, Kamal Rahmouni

Am J Physiol Heart Circ Physiol. 2010 Dec; 299(6): H1902–H1907. Published online 2010 Sep 17. doi: 10.1152/ajpheart.00336.2010

PMCID:: PMC3006278

Article

Select item 57684206.

Paxillin facilitates timely neurite initiation on soft-substrate environments by interacting with the endocytic machinery

Ting-Ya Chang, Chen Chen, Min Lee, Ya-Chu Chang, Chi-Huan Lu, Shao-Tzu Lu, De-Yao Wang, Aijun Wang, Chin-Lin Guo, Pei-Lin Cheng

eLife. 2017; 6: e31101. Published online 2017 Dec 22. doi: 10.7554/eLife.31101

PMCID:: PMC5768420

Article PDF–11M

Select item 27144577.

Gene Remodeling in Type 2 Diabetic Cardiomyopathy and Its Phenotypic Rescue with SERCA2a

Ioannis Karakikes, Maengjo Kim, Lahouaria Hadri, Susumu Sakata, Yezhou Sun, Weijia Zhang, Elie R. Chemaly, Roger J. Hajjar, Djamel Lebeche

PLoS One. 2009; 4(7): e6474. Published online 2009 Jul 31. doi: 10.1371/journal.pone.0006474

PMCID:: PMC2714457

Article PDF–432K

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