PMC Links for Gene (Select 91179) - PMC

Select item 42941861.

Sclerocornea in a Patient with Van Den Ende–Gupta Syndrome Homozygous for a SCARF2 Microdeletion

Michele P. Migliavacca, Nara L. M. Sobreira, Graziela P.M. Antonialli, Mariana M. Oliveira, Maria Isabel S.A. Melaragno, Ingele Casteels, Thomy de Ravel, Decio Brunoni, David Valle, Ana Beatriz A. Perez

Am J Med Genet A. Author manuscript; available in PMC 2015 Jan 14.

Published in final edited form as: Am J Med Genet A. 2014 May; 0(5): 1170–1174. Published online 2014 Jan 29. doi: 10.1002/ajmg.a.36425

PMCID:: PMC4294186

Abstract Article PDF–637K

Select item 32149472.

Unmasking of a Recessive SCARF2 Mutation by a 22q11.12 de novo Deletion in a Patient with Van den Ende-Gupta Syndrome

M.F. Bedeschi, L. Colombo, F. Mari, K. Hofmann, A. Rauch, B. Gentilin, A. Renieri, D. Clerici

Mol Syndromol. 2011 May; 1(5): 239–245. Published online 2011 May 18. doi: 10.1159/000328135

PMCID:: PMC3214947

Abstract Article PDF–712K

Select item 29488003.

Mutations in SCARF2 Are Responsible for Van Den Ende-Gupta Syndrome

Natascia Anastasio, Tawfeg Ben-Omran, Ahmad Teebi, Kevin C.H. Ha, Emilie Lalonde, Rehab Ali, Mariam Almureikhi, Vazken M. Der Kaloustian, Junhui Liu, David S. Rosenblatt, Jacek Majewski, Loydie A. Jerome-Majewska

Am J Hum Genet. 2010 Oct 8; 87(4): 553–559. doi: 10.1016/j.ajhg.2010.09.005

PMCID:: PMC2948800

Abstract Article PDF–639K

Select item 76641204.

Quantitative Proteomics Links the LRRC59 Interactome to mRNA Translation on the ER Membrane

Molly M. Hannigan, Alyson M. Hoffman, J. Will Thompson, Tianli Zheng, Christopher V. Nicchitta

Mol Cell Proteomics. 2020 Nov; 19(11): 1826–1849. Published online 2020 Aug 10. doi: 10.1074/mcp.RA120.002228

PMCID:: PMC7664120

Abstract Article PDF–4.8M

Select item 109168665.

Cooperative polarization of MCAM/CD146 and ERM family proteins in melanoma

Suzannah G. Miller, Maria Hoh, Christopher C. Ebmeier, Jian Wei Tay, Natalie G. Ahn

Mol Biol Cell. 2024 Mar 1; 35(3): ar31. Published online 2024 Jan 29. doi: 10.1091/mbc.E23-06-0255

PMCID:: PMC10916866

Abstract Article PDF–4.7M

Select item 63865886.

The Functional Proximal Proteome of Oncogenic Ras Includes mTORC2

Joanna R. Kovalski, Aparna Bhaduri, Ashley M. Zehnder, Poornima H. Neela, Yonglu Che, Glenn G. Wozniak, Paul A. Khavari

Mol Cell. Author manuscript; available in PMC 2020 Feb 21.

Published in final edited form as: Mol Cell. 2019 Feb 21; 73(4): 830–844.e12. Published online 2019 Jan 10. doi: 10.1016/j.molcel.2018.12.001

PMCID:: PMC6386588

Abstract Article PDF–1.7M

Select item 32791917.

Analysis of the myosinII-responsive focal adhesion proteome reveals a role for ß-Pix in negative regulation of focal adhesion maturation

Jean-Cheng Kuo, Xuemei Han, Cheng-Te Hsiao, John R. Yates, III, Clare M. Waterman

Nat Cell Biol. Author manuscript; available in PMC 2012 Feb 14.

Published in final edited form as: Nat Cell Biol. 2011 Apr; 13(4): 383–393. Published online 2011 Mar 20. doi: 10.1038/ncb2216

PMCID:: PMC3279191

Abstract Article PDF–2.8M

Select item 93383138.

HSF1 phosphorylation establishes an active chromatin state via the TRRAP–TIP60 complex and promotes tumorigenesis

Mitsuaki Fujimoto, Ryosuke Takii, Masaki Matsumoto, Mariko Okada, Keiich I. Nakayama, Ryuichiro Nakato, Katsunori Fujiki, Katsuhiko Shirahige, Akira Nakai

Nat Commun. 2022; 13: 4355. Published online 2022 Jul 29. doi: 10.1038/s41467-022-32034-4

PMCID:: PMC9338313

Abstract Article PDF–2.8M

Select item 94339389.

Defining the proximal interaction networks of Arf GTPases reveals a mechanism for the regulation of PLD1 and PI4KB

Fu‐Long Li, Zhengming Wu, Yong‐Qi Gao, Forrest Z Bowling, J Matthew Franklin, Chongze Hu, Raymond T Suhandynata, Michael A Frohman, Michael V Airola, Huilin Zhou, Kun‐Liang Guan

EMBO J. 2022 Sep; 41(17): e110698. Published online 2022 Jul 17. doi: 10.15252/embj.2022110698

PMCID:: PMC9433938

Abstract Article PDF–9.3M

Select item 720679310.

LMBR1L regulates lymphopoiesis through Wnt/β-catenin signaling

Jin Huk Choi, Xue Zhong, William McAlpine, Tzu-Chieh Liao, Duanwu Zhang, Beibei Fang, Jamie Russell, Sara Ludwig, Evan Nair-Gill, Zhao Zhang, Kuan-wen Wang, Takuma Misawa, Xiaoming Zhan, Mihwa Choi, Tao Wang, Xiaohong Li, Miao Tang, Qihua Sun, Liyang Yu, Anne R. Murray, Eva Marie Y. Moresco, Bruce Beutler

Science. Author manuscript; available in PMC 2020 May 8.

Published in final edited form as: Science. 2019 May 10; 364(6440): eaau0812. doi: 10.1126/science.aau0812

PMCID:: PMC7206793

Abstract Article PDF–2.2M

Select item 910523511.

Cullin 3 Exon 9 Deletion in Familial Hyperkalemic Hypertension Impairs Cullin3-Ring-E3 Ligase (CRL3) Dynamic Regulation and Cycling

Ilektra Kouranti, Waed Abdel Khalek, Stephani Mazurkiewicz, Irmine Loisel-Ferreira, Alexis M. Gautreau, Lionel Pintard, Xavier Jeunemaitre, Eric Clauser

Int J Mol Sci. 2022 May; 23(9): 5151. Published online 2022 May 5. doi: 10.3390/ijms23095151

PMCID:: PMC9105235

Abstract Article PDF–5.8M

Select item 553161112.

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 816503013.

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