PMC Links for Nucleotide (Select 1519313639) - PMC

Select item 56538371.

Genetic Variants Associated with Episodic Ataxia in Korea

Kwang-Dong Choi, Ji-Soo Kim, Hyo-Jung Kim, Ileok Jung, Seong-Hae Jeong, Seung-Han Lee, Dong Uk Kim, Sang-Ho Kim, Seo Young Choi, Jin-Hong Shin, Dae-Seong Kim, Kyung-Pil Park, Hyang-Sook Kim, Jae-Hwan Choi

Sci Rep. 2017; 7: 13855. Published online 2017 Oct 23. doi: 10.1038/s41598-017-14254-7

PMCID:: PMC5653837

Abstract Article PDF–2.2M

Select item 47879032.

The ubiquitin ligase Ubr4 controls stability of podocin/MEC-2 supercomplexes

Markus M. Rinschen, Puneet Bharill, Xiongwu Wu, Priyanka Kohli, Matthäus J. Reinert, Oliver Kretz, Isabel Saez, Bernhard Schermer, Martin Höhne, Malte P. Bartram, Sriram Aravamudhan, Bernard R. Brooks, David Vilchez, Tobias B. Huber, Roman-Ulrich Müller, Marcus Krüger, Thomas Benzing

Hum Mol Genet. 2016 Apr 1; 25(7): 1328–1344. Published online 2016 Jan 19. doi: 10.1093/hmg/ddw016

PMCID:: PMC4787903

Abstract Article PDF–1.0M

Select item 43499863.

KCMF1 (potassium channel modulatory factor 1) Links RAD6 to UBR4 (ubiquitin N-recognin domain-containing E3 ligase 4) and Lysosome-Mediated Degradation

Jenny H. Hong, Lilia Kaustov, Etienne Coyaud, Tharan Srikumar, Janet Wan, Cheryl Arrowsmith, Brian Raught

Mol Cell Proteomics. 2015 Mar; 14(3): 674–685. Published online 2015 Jan 12. doi: 10.1074/mcp.M114.042168

PMCID:: PMC4349986

Abstract Article PDF–3.4M

Select item 12660374.

The response of autologous T cells to a human melanoma is dominated by mutated neoantigens

Volker Lennerz, Martina Fatho, Chiara Gentilini, Roy A. Frye, Alexander Lifke, Dorothea Ferel, Catherine Wölfel, Christoph Huber, Thomas Wölfel

Proc Natl Acad Sci U S A. 2005 Nov 1; 102(44): 16013–16018. Published online 2005 Oct 24. doi: 10.1073/pnas.0500090102

PMCID:: PMC1266037

Abstract Article PDF–614K

Select item 12479915.

p600, a unique protein required for membrane morphogenesis and cell survival

Yoshihiro Nakatani, Hiroaki Konishi, Alex Vassilev, Hisanori Kurooka, Keiichiro Ishiguro, Jun-ichi Sawada, Tsuyoshi Ikura, Stanley J. Korsmeyer, Jun Qin, Anna M. Herlitz

Proc Natl Acad Sci U S A. 2005 Oct 18; 102(42): 15093–15098. Published online 2005 Oct 7. doi: 10.1073/pnas.0507458102

Correction in:: Proc Natl Acad Sci U S A. 2005 Dec 6; 102(49): 17882.

PMCID:: PMC1247991

Abstract Article PDF–976K

Select item 11902506.

A Family of Mammalian E3 Ubiquitin Ligases That Contain the UBR Box Motif and Recognize N-Degrons

Takafumi Tasaki, Lubbertus C. F. Mulder, Akihiro Iwamatsu, Min Jae Lee, Ilia V. Davydov, Alexander Varshavsky, Mark Muesing, Yong Tae Kwon

Mol Cell Biol. 2005 Aug; 25(16): 7120–7136. doi: 10.1128/MCB.25.16.7120-7136.2005

PMCID:: PMC1190250

Abstract Article PDF–1.2M

Select item 11821357.

Association of the human papillomavirus type 16 E7 oncoprotein with the 600-kDa retinoblastoma protein-associated factor, p600

Kyung-Won Huh, Joseph DeMasi, Hidesato Ogawa, Yoshihiro Nakatani, Peter M. Howley, Karl Münger

Proc Natl Acad Sci U S A. 2005 Aug 9; 102(32): 11492–11497. Published online 2005 Aug 1. doi: 10.1073/pnas.0505337102

PMCID:: PMC1182135

Abstract Article PDF–379K

Select item 55020598.

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

Dorota Monies, Mohamed Abouelhoda, Moeenaldeen AlSayed, Zuhair Alhassnan, Maha Alotaibi, Husam Kayyali, Mohammed Al-Owain, Ayaz Shah, Zuhair Rahbeeni, Mohammad A. Al-Muhaizea, Hamad I. Alzaidan, Edward Cupler, Saeed Bohlega, Eissa Faqeih, Maha Faden, Banan Alyounes, Dyala Jaroudi, Ewa Goljan, Hadeel Elbardisy, Asma Akilan, Renad Albar, Hesham Aldhalaan, Shamshad Gulab, Aziza Chedrawi, Bandar K Al Saud, Wesam Kurdi, Nawal Makhseed, Tahani Alqasim, Heba Y. El Khashab, Hamoud Al-Mousa, Amal Alhashem, Imaduddin Kanaan, Talal Algoufi, Khalid Alsaleem, Talal A. Basha, Fathiya Al-Murshedi, Sameena Khan, Adila Al-Kindy, Maha Alnemer, Sami Al-Hajjar, Suad Alyamani, Hasan Aldhekri, Ali Al-Mehaidib, Rand Arnaout, Omar Dabbagh, Mohammad Shagrani, Dieter Broering, Maha Tulbah, Amal Alqassmi, Maisoon Almugbel, Mohammed AlQuaiz, Abdulaziz Alsaman, Khalid Al-Thihli, Raashda A. Sulaiman, Wajeeh Al-Dekhail, Abeer Alsaegh, Fahad A. Bashiri, Alya Qari, Suzan Alhomadi, Hisham Alkuraya, Mohammed Alsebayel, Muddathir H Hamad, Laszlo Szonyi, Faisal Abaalkhail, Sulaiman M. Al-Mayouf, Hamad Almojalli, Khalid S. Alqadi, Hussien Elsiesy, Taghreed M. Shuaib, Mohammed Zain Seidahmed, Ibraheem Abosoudah, Hana Akleh, Abdulaziz AlGhonaium, Turki M. Alkharfy, Fuad Al Mutairi, Wafa Eyaid, Abdullah Alshanbary, Farrukh R. Sheikh, Fahad I. Alsohaibani, Abdullah Alsonbul, Saeed Al Tala, Soher Balkhy, Randa Bassiouni, Ahmed S. Alenizi, Maged H. Hussein, Saeed Hassan, Mohamed Khalil, Brahim Tabarki, Saad Alshahwan, Amira Oshi, Yasser Sabr, Saad Alsaadoun, Mustafa A. Salih, Sarar Mohamed, Habiba Sultana, Abdullah Tamim, Moayad El-Haj, Saif Alshahrani, Dalal K. Bubshait, Majid Alfadhel, Tariq Faquih, Mohamed El-Kalioby, Shazia Subhani, Zeeshan Shah, Nabil Moghrabi, Brian F. Meyer, Fowzan S. Alkuraya

Hum Genet. 2017; 136(8): 921–939. Published online 2017 Jun 9. doi: 10.1007/s00439-017-1821-8

PMCID:: PMC5502059

Abstract Article PDF–528K

Select item 30838649.

Alternatively Spliced Genes as Biomarkers for Schizophrenia, Bipolar Disorder and Psychosis: A Blood-Based Spliceome-Profiling Exploratory Study

S.J. Glatt, S.D. Chandler, C.A. Bousman, G. Chana, G.R. Lucero, E. Tatro, T. May, J.B. Lohr, W.S. Kremen, I.P. Everall, M.T. Tsuang

Curr Pharmacogenomics Person Med. Author manuscript; available in PMC 2011 Apr 28.

Published in final edited form as: Curr Pharmacogenomics Person Med. 2009 Sep; 7(3): 164–188. doi: 10.2174/1875692110907030164

PMCID:: PMC3083864

Abstract Article PDF–514K

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