PMC Links for Gene (Select 84570) - PMC

Select item 89603421.

Recessive variants in COL25A1 gene as novel cause of arthrogryposis multiplex congenita with ocular congenital cranial dysinnervation disorder

Daniel Natera-de Benito, Julie A. Jurgens, Alison Yeung, Irina T. Zaharieva, Adnan Manzur, Stephanie P. DiTroia, Silvio Alessandro Di Gioia, Lynn Pais, Veronica Pini, Brenda J. Barry, Wai-Man Chan, James E Elder, John Christodoulou, Eleanor Hay, Eleina M. England, Pinki Munot, David G. Hunter, Lucy Feng, Danielle Ledoux, Anne O’Donnell-Luria, Rahul Phadke, Elizabeth C. Engle, Anna Sarkozy, Francesco Muntoni

Hum Mutat. Author manuscript; available in PMC 2023 Apr 1.

Published in final edited form as: Hum Mutat. 2022 Apr; 43(4): 487–498. Published online 2022 Feb 3. doi: 10.1002/humu.24333

PMCID:: PMC8960342

Abstract Article PDF–1.3M

Select item 42896882.

Recessive Mutations in COL25A1 Are a Cause of Congenital Cranial Dysinnervation Disorder

Jameela M.A. Shinwari, Arif Khan, Salma Awad, Zakia Shinwari, Ayodele Alaiya, Mohamad Alanazi, Asma Tahir, Coralie Poizat, Nada Al Tassan

Am J Hum Genet. 2015 Jan 8; 96(1): 147–152. doi: 10.1016/j.ajhg.2014.11.006

PMCID:: PMC4289688

Abstract Article PDF–384K

Select item 35486593.

Association of COL25A1 with Comorbid Antisocial Personality Disorder (ASPD) and Substance Dependence

Dawei Li, Hongyu Zhao, Henry R. Kranzler, David Oslin, Raymond F Anton, Lindsay A Farrer, Joel Gelernter

Biol Psychiatry. Author manuscript; available in PMC 2013 Apr 15.

Published in final edited form as: Biol Psychiatry. 2012 Apr 15; 71(8): 733–740. Published online 2012 Jan 31. doi: 10.1016/j.biopsych.2011.12.011

PMCID:: PMC3548659

Abstract Article PDF–1020K

Select item 77205224.

Collagenous Alzheimer amyloid plaque component impacts on the compaction of amyloid-β plaques

Tadafumi Hashimoto, Daisuke Fujii, Yasushi Naka, Mayu Kashiwagi-Hakozaki, Yuko Matsuo, Yusuke Matsuura, Tomoko Wakabayashi, Takeshi Iwatsubo

Acta Neuropathol Commun. 2020; 8: 212. Published online 2020 Dec 7. doi: 10.1186/s40478-020-01075-5

PMCID:: PMC7720522

Abstract Article PDF–7.9M

Select item 34993285.

Genome-wide methylation profiling identifies hypermethylated biomarkers in high-grade cervical intraepithelial neoplasia

Ágnes Lendvai, Frank Johannes, Christina Grimm, Jasper J.H. Eijsink, René Wardenaar, Haukeline H. Volders, Harry G. Klip, Harry Hollema, Ritsert C. Jansen, Ed Schuuring, G. Bea A. Wisman, Ate G.J. van der Zee

Epigenetics. 2012 Nov 1; 7(11): 1268–1278. doi: 10.4161/epi.22301

PMCID:: PMC3499328

Abstract Article PDF–1.2M

Select item 28076016.

COL25A1 triggers and promotes Alzheimer’s disease-like pathology in vivo

Ying Tong, Ying Xu, Kimberly Scearce-Levie, Louis J. Ptáček, Ying-Hui Fu

Neurogenetics. 2010; 11(1): 41–52. Published online 2009 Jun 23. doi: 10.1007/s10048-009-0201-5

PMCID:: PMC2807601

Abstract Article PDF–771K

Select item 16185347.

Mostly Separate Distributions of CLAC- versus Aβ40- or Thioflavin S-Reactivities in Senile Plaques Reveal Two Distinct Subpopulations of β-Amyloid Deposits

Hisatomo Kowa, Tomoko Sakakura, Yusuke Matsuura, Tomoko Wakabayashi, David M.A. Mann, Karen Duff, Shoji Tsuji, Tadafumi Hashimoto, Takeshi Iwatsubo

Am J Pathol. 2004 Jul; 165(1): 273–281. doi: 10.1016/s0002-9440(10)63295-6

PMCID:: PMC1618534

Abstract Article PDF–2.3M

Select item 1253648.

CLAC: a novel Alzheimer amyloid plaque component derived from a transmembrane precursor, CLAC-P/collagen type XXV

Tadafumi Hashimoto, Tomoko Wakabayashi, Atsushi Watanabe, Hisatomo Kowa, Ritsuko Hosoda, Atsushi Nakamura, Ichiro Kanazawa, Takao Arai, Koji Takio, David M.A. Mann, Takeshi Iwatsubo

EMBO J. 2002 Apr 2; 21(7): 1524–1534. doi: 10.1093/emboj/21.7.1524

PMCID:: PMC125364

Abstract Article PDF–500K

Select item 30483719.

Differential Genetic Associations for Systemic Lupus Erythematosus Based on Anti–dsDNA Autoantibody Production

Sharon A. Chung, Kimberly E. Taylor, Robert R. Graham, Joanne Nititham, Annette T. Lee, Ward A. Ortmann, Chaim O. Jacob, Marta E. Alarcón-Riquelme, Betty P. Tsao, John B. Harley, Patrick M. Gaffney, Kathy L. Moser, SLEGEN, Michelle Petri, F. Yesim Demirci, M. Ilyas Kamboh, Susan Manzi, Peter K. Gregersen, Carl D. Langefeld, Timothy W. Behrens, Lindsey A. Criswell

PLoS Genet. 2011 Mar; 7(3): e1001323. Published online 2011 Mar 3. doi: 10.1371/journal.pgen.1001323

PMCID:: PMC3048371

Abstract Article PDF–622K

Select item 413679910.

Genome-Wide Association Studies and Heritability Estimates of Body Mass Index Related Phenotypes in Bangladeshi Adults

Molly Scannell Bryan, Maria Argos, Brandon Pierce, Lin Tong, Muhammad Rakibuz-Zaman, Alauddin Ahmed, Mahfuzar Rahman, Tariqul Islam, Muhammad Yunus, Faruque Parvez, Shantanu Roy, Farzana Jasmine, John A. Baron, Muhammad G. Kibriya, Habibul Ahsan

PLoS One. 2014; 9(8): e105062. Published online 2014 Aug 18. doi: 10.1371/journal.pone.0105062

PMCID:: PMC4136799

Abstract Article PDF–692K

Select item 287688411.

A systematic gene-based screen of chr4q22–q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts

Gursharan Kalsi, Po-Hsiu Kuo, Fazil Aliev, Jeffry Alexander, Omari McMichael, Diana G. Patterson, Dermot Walsh, Zhongming Zhao, Marc Schuckit, John Nurnberger, Jr, Howard Edenberg, John Kramer, Vladimir Vladimirov, Carol A. Prescott, Danielle M. Dick, Kenneth S. Kendler, Brien P. Riley

Hum Mol Genet. 2010 Jun 15; 19(12): 2497–2506. Published online 2010 Mar 23. doi: 10.1093/hmg/ddq112

Correction in:: Hum Mol Genet. 2010 Oct 15; 19(20): 4121.

PMCID:: PMC2876884

Abstract Article PDF–226K

Select item 422362712.

Extracellular matrix signatures of human primary metastatic colon cancers and their metastases to liver

Alexandra Naba, Karl R Clauser, Charles A Whittaker, Steven A Carr, Kenneth K Tanabe, Richard O Hynes

BMC Cancer. 2014; 14: 518. Published online 2014 Jul 18. doi: 10.1186/1471-2407-14-518

PMCID:: PMC4223627

Abstract Article PDF–1.5M

Select item 607772213.

Estrogen-regulated feedback loop limits the efficacy of estrogen receptor–targeted breast cancer therapy

Tengfei Xiao, Wei Li, Xiaoqing Wang, Han Xu, Jixin Yang, Qiu Wu, Ying Huang, Joseph Geradts, Peng Jiang, Teng Fei, David Chi, Chongzhi Zang, Qi Liao, Jonathan Rennhack, Eran Andrechek, Nanlin Li, Simone Detre, Mitchell Dowsett, Rinath M. Jeselsohn, X. Shirley Liu, Myles Brown

Proc Natl Acad Sci U S A. 2018 Jul 31; 115(31): 7869–7878. Published online 2018 Jul 9. doi: 10.1073/pnas.1722617115

PMCID:: PMC6077722

Abstract Article PDF–2.4M

Select item 484160714.

High-throughput analyses of hnRNP H1 dissects its multi-functional aspect

Philip J. Uren, Emad Bahrami-Samani, Patricia Rosa de Araujo, Christine Vogel, Mei Qiao, Suzanne C. Burns, Andrew D. Smith, Luiz O. F. Penalva

RNA Biol. 2016 Apr; 13(4): 400–411. Published online 2016 Jan 13. doi: 10.1080/15476286.2015.1138030

PMCID:: PMC4841607

Abstract Article PDF–1.6M

Select item 289646415.

Personalized Smoking Cessation: Interactions between Nicotine Dose, Dependence and Quit-Success Genotype Score

Jed E Rose, Frédérique M Behm, Tomas Drgon, Catherine Johnson, George R Uhl

Mol Med. 2010 Jul-Aug; 16(7-8): 247–253. Published online 2010 Mar 17. doi: 10.2119/molmed.2009.00159

Correction in:: Mol Med. 2012; 18(1): 729.

PMCID:: PMC2896464

Abstract Article PDF–2.4M

Select item 553161116.

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 816503017.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 13924118.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

Select item 317805919.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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