PMC Links for Nucleotide (Select 1519245861) - PMC

Select item 61743611.

Bi-allelic Loss-of-Function Variants in DNMBP Cause Infantile Cataracts

Muhammad Ansar, Hyung-lok Chung, Rachel L. Taylor, Aamir Nazir, Samina Imtiaz, Muhammad T. Sarwar, Alkistis Manousopoulou, Periklis Makrythanasis, Sondas Saeed, Emilie Falconnet, Michel Guipponi, Constantin J. Pournaras, Maqsood A. Ansari, Emmanuelle Ranza, Federico A. Santoni, Jawad Ahmed, Inayat Shah, Khitab Gul, Graeme CM. Black, Hugo J. Bellen, Stylianos E. Antonarakis

Am J Hum Genet. 2018 Oct 4; 103(4): 568–578. Published online 2018 Oct 4. doi: 10.1016/j.ajhg.2018.09.004

PMCID:: PMC6174361

Abstract Article PDF–2.5M

Select item 42428412.

Discoidin domain receptor 1 controls linear invadosome formation via a Cdc42–Tuba pathway

Amélie Juin, Julie Di Martino, Birgit Leitinger, Elodie Henriet, Anne-Sophie Gary, Lisa Paysan, Jeremy Bomo, Georges Baffet, Cécile Gauthier-Rouvière, Jean Rosenbaum, Violaine Moreau, Frédéric Saltel

J Cell Biol. 2014 Nov 24; 207(4): 517–533. doi: 10.1083/jcb.201404079

PMCID:: PMC4242841

Abstract Article PDF–4.9M

Select item 25532753.

No association of dynamin binding protein (DNMBP) gene SNPs and Alzheimer’s disease

Ryan L. Minster, Steven T. DeKosky, M. Ilyas Kamboh

Neurobiol Aging. Author manuscript; available in PMC 2009 Oct 1.

Published in final edited form as: Neurobiol Aging. 2008 Oct; 29(10): 1602–1604. Published online 2007 Apr 17. doi: 10.1016/j.neurobiolaging.2007.03.010

PMCID:: PMC2553275

Abstract Article PDF–39K

Select item 20645054.

Cdc42 GEF Tuba regulates the junctional configuration of simple epithelial cells

Tetsuhisa Otani, Tetsuo Ichii, Shinya Aono, Masatoshi Takeichi

J Cell Biol. 2006 Oct 9; 175(1): 135–146. doi: 10.1083/jcb.200605012

PMCID:: PMC2064505

Abstract Article PDF–5.4M

Select item 67096695.

Expression Analysis of the Circular RNA Molecules in the Human Retinal Cells Treated with Homocysteine

Mahavir Singh, Akash K George, Rubens Petit Homme, Avisek Majumder, Anwesha Laha, Harpal S. Sandhu, Suresh C Tyagi

Curr Eye Res. Author manuscript; available in PMC 2019 Aug 26.

Published in final edited form as: Curr Eye Res. 2019 Mar; 44(3): 287–293. Published online 2018 Dec 5. doi: 10.1080/02713683.2018.1542005

PMCID:: PMC6709669

Abstract Article PDF–583K

Select item 49111496.

Whole Exome Sequencing and Segregation Analysis Confirms That a Mutation in COL17A1 Is the Cause of Epithelial Recurrent Erosion Dystrophy in a Large Dominant Pedigree Previously Mapped to Chromosome 10q23-q24

Benjamin R. Lin, Derek J. Le, Yabin Chen, Qiwei Wang, D. Doug Chung, Ricardo F. Frausto, Christopher Croasdale, Richard W. Yee, Fielding J. Hejtmancik, Anthony J. Aldave

PLoS One. 2016; 11(6): e0157418. Published online 2016 Jun 16. doi: 10.1371/journal.pone.0157418

PMCID:: PMC4911149

Abstract Article PDF–626K

Select item 30320747.

Loss-of-Function Mutations in HPSE2 Cause the Autosomal Recessive Urofacial Syndrome

Junfeng Pang, Shu Zhang, Ping Yang, Bobbilynn Hawkins-Lee, Jixin Zhong, Yushan Zhang, Bernardo Ochoa, Jose A.G. Agundez, Marie-Antoinette Voelckel, Weikuan Gu, Wen-Cheng Xiong, Lin Mei, Jin-Xiong She, Cong-Yi Wang

Am J Hum Genet. 2010 Jun 11; 86(6): 957–962. doi: 10.1016/j.ajhg.2010.04.016

Correction in:: Am J Hum Genet. 2010 Jul 9; 87(1): 161.

PMCID:: PMC3032074

Abstract Article PDF–513K

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