PMC Links for Gene (Select 8643) - PMC

Select item 92033651.

PTCH2 is not a strong candidate gene for gorlin syndrome predisposition

Miriam J. Smith, D. Gareth Evans

Fam Cancer. 2022; 21(3): 343–346. Published online 2021 Jun 25. doi: 10.1007/s10689-021-00269-7

PMCID:: PMC9203365

Abstract Article PDF–517K

Select item 12239652.

Distinct roles of PTCH2 splice variants in Hedgehog signalling.

Fahimeh Rahnama, Rune Toftgård, Peter G Zaphiropoulos

Biochem J. 2004 Mar 1; 378(Pt 2): 325–334. doi: 10.1042/BJ20031200

PMCID:: PMC1223965

Summary PDF–322K

Select item 58390313.

Congenital embryonal rhabdomyosarcoma caused by heterozygous concomitant PTCH1 and PTCH2 germline mutations

Julia Taeubner, Triantafyllia Brozou, Nan Qin, Jasmin Bartl, Sebastian Ginzel, Joerg Schaper, Joerg Felsberg, Simone Fulda, Christian Vokuhl, Arndt Borkhardt, Michaela Kuhlen

Eur J Hum Genet. 2018 Jan; 26(1): 137–142. Published online 2017 Dec 11. doi: 10.1038/s41431-017-0048-4

PMCID:: PMC5839031

Abstract Article PDF–758K

Select item 76534374.

中国人群Hedgehog通路基因与非综合征型唇腭裂的亲源效应

李文咏, 王梦莹, 周仁, 王斯悦, 郑鸿尘, 朱洪平, 周治波, 吴涛, 王红, 石冰

Beijing Da Xue Xue Bao Yi Xue Ban. 2020 Oct 18; 52(5): 809–814. Chinese. Published online 2020 Jun 3. doi: 10.19723/j.issn.1671-167X.2020.05.003

PMCID:: PMC7653437

Abstract Article PDF–913K

Select item 12885465.

The Sonic Hedgehog–Patched–Gli Pathway in Human Development and Disease

Elisabeth H. Villavicencio, David O. Walterhouse, Philip M. Iannaccone

Am J Hum Genet. 2000 Nov; 67(5): 1047–1054. Published online 2000 Sep 21. doi: 10.1016/s0002-9297(07)62934-6

PMCID:: PMC1288546

Article PDF–341K

Select item 57910516.

Activated Hedgehog-GLI Signaling Causes Congenital Ureteropelvic Junction Obstruction

Sepideh Sheybani-Deloui, Lijun Chi, Marian V. Staite, Jason E. Cain, Brian J. Nieman, R. Mark Henkelman, Brandon J. Wainwright, S. Steven Potter, Darius J. Bagli, Armando J. Lorenzo, Norman D. Rosenblum

J Am Soc Nephrol. 2018 Feb; 29(2): 532–544. Published online 2017 Nov 6. doi: 10.1681/ASN.2017050482

PMCID:: PMC5791051

Abstract Article

Select item 248707.

Characterization of two patched receptors for the vertebrate hedgehog protein family

David Carpenter, Donna M. Stone, Jennifer Brush, Anne Ryan, Mark Armanini, Gretchen Frantz, Arnon Rosenthal, Frederic J. de Sauvage

Proc Natl Acad Sci U S A. 1998 Nov 10; 95(23): 13630–13634. doi: 10.1073/pnas.95.23.13630

PMCID:: PMC24870

Abstract Article PDF–459K

Select item 53435938.

Alternative exon skipping biases substrate preference of the deubiquitylase USP15 for mysterin/RNF213, the moyamoya disease susceptibility factor

Yuri Kotani, Daisuke Morito, Kenshiro Sakata, Shiori Ainuki, Munechika Sugihara, Tomohisa Hatta, Shun-ichiro Iemura, Seiji Takashima, Tohru Natsume, Kazuhiro Nagata

Sci Rep. 2017; 7: 44293. Published online 2017 Mar 9. doi: 10.1038/srep44293

PMCID:: PMC5343593

Abstract Article PDF–1.4M

Select item 19135459.

Functional specialization of β-arrestin interactions revealed by proteomic analysis

Kunhong Xiao, Daniel B. McClatchy, Arun K. Shukla, Yang Zhao, Minyong Chen, Sudha K. Shenoy, John R. Yates, III, Robert J. Lefkowitz

Proc Natl Acad Sci U S A. 2007 Jul 17; 104(29): 12011–12016. Published online 2007 Jul 9. doi: 10.1073/pnas.0704849104

PMCID:: PMC1913545

Abstract Article PDF–712K

Select item 290133610.

Maternal Genes and Facial Clefts in Offspring: A Comprehensive Search for Genetic Associations in Two Population-Based Cleft Studies from Scandinavia

Astanand Jugessur, Min Shi, Håkon Kristian Gjessing, Rolv Terje Lie, Allen James Wilcox, Clarice Ring Weinberg, Kaare Christensen, Abee Lowman Boyles, Sandra Daack-Hirsch, Truc Trung Nguyen, Lene Christiansen, Andrew Carl Lidral, Jeffrey Clark Murray

PLoS One. 2010; 5(7): e11493. Published online 2010 Jul 9. doi: 10.1371/journal.pone.0011493

PMCID:: PMC2901336

Abstract Article PDF–778K

Select item 40369711.

The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment

Hilary F. Clark, Austin L. Gurney, Evangeline Abaya, Kevin Baker, Daryl Baldwin, Jennifer Brush, Jian Chen, Bernard Chow, Clarissa Chui, Craig Crowley, Bridget Currell, Bethanne Deuel, Patrick Dowd, Dan Eaton, Jessica Foster, Christopher Grimaldi, Qimin Gu, Philip E. Hass, Sherry Heldens, Arthur Huang, Hok Seon Kim, Laura Klimowski, Yisheng Jin, Stephanie Johnson, James Lee, Lhney Lewis, Dongzhou Liao, Melanie Mark, Edward Robbie, Celina Sanchez, Jill Schoenfeld, Somasekar Seshagiri, Laura Simmons, Jennifer Singh, Victoria Smith, Jeremy Stinson, Alicia Vagts, Richard Vandlen, Colin Watanabe, David Wieand, Kathryn Woods, Ming-Hong Xie, Daniel Yansura, Sothy Yi, Guoying Yu, Jean Yuan, Min Zhang, Zemin Zhang, Audrey Goddard, William I. Wood, Paul Godowski

Genome Res. 2003 Oct; 13(10): 2265–2270. doi: 10.1101/gr.1293003

Correction in:: Genome Res. 2003 Dec; 13(12): 2759.

PMCID:: PMC403697

Abstract Article PDF–120K

Select item 567858112.

RNA-binding activity of TRIM25 is mediated by its PRY/SPRY domain and is required for ubiquitination

Nila Roy Choudhury, Gregory Heikel, Maryia Trubitsyna, Peter Kubik, Jakub Stanislaw Nowak, Shaun Webb, Sander Granneman, Christos Spanos, Juri Rappsilber, Alfredo Castello, Gracjan Michlewski

BMC Biol. 2017; 15: 105. Published online 2017 Nov 8. doi: 10.1186/s12915-017-0444-9

PMCID:: PMC5678581

Abstract Article PDF–3.2M

Select item 582692613.

VIRMA mediates preferential m⁶A mRNA methylation in 3′UTR and near stop codon and associates with alternative polyadenylation

Yanan Yue, Jun Liu, Xiaolong Cui, Jie Cao, Guanzheng Luo, Zezhou Zhang, Tao Cheng, Minsong Gao, Xiao Shu, Honghui Ma, Fengqin Wang, Xinxia Wang, Bin Shen, Yizhen Wang, Xinhua Feng, Chuan He, Jianzhao Liu

Cell Discov. 2018; 4: 10. Published online 2018 Feb 27. doi: 10.1038/s41421-018-0019-0

PMCID:: PMC5826926

Abstract Article PDF–2.3M

Select item 816503014.

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 13924115.

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 317805916.

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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