PMC Links for Gene (Select 80067) - PMC

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Items: 16

Select item 91497441.

Woodhouse-Sakati syndrome (WSS): A case report of 3 Saudi sisters with urogenital anomalies

Mariam S. Alharbi

Saudi Med J. 2021 Nov; 42(11): 1237–1242. doi: 10.15537/smj.2021.42.11.20210329

PMCID:: PMC9149744

Abstract Article PDF–1.5M

Select item 87614312.

Novel splicing‐site mutation in DCAF17 gene causing Woodhouse‐Sakati syndrome in a large consanguineous family

Fozia Fozia, Khadim Shah, Rubina Nazli, Sher Alam Khan, Ijaz Ahmad, Noor Mohammad, Saadullah Khan, Amal Alotaibi

J Clin Lab Anal. 2022 Jan; 36(1): e24127. Published online 2021 Dec 8. doi: 10.1002/jcla.24127

PMCID:: PMC8761431

Abstract Article PDF–745K

Select item 69051093.

Phenotypic Heterogeneity in Woodhouse-Sakati Syndrome: Two New Families with a Mutation in the C2orf37 Gene

Tawfeg Ben-Omran, Rehab Ali, Mariam Almureikhi, Seham Alameer, Muna Al-Saffar, Christopher A. Walsh, Jillian M. Felie, Ahmad Teebi

Am J Med Genet A. Author manuscript; available in PMC 2019 Dec 11.

Published in final edited form as: Am J Med Genet A. 2011 Nov; 155A(11): 2647–2653. Published online 2011 Sep 30. doi: 10.1002/ajmg.a.34219

PMCID:: PMC6905109

Abstract Article PDF–705K

Select item 58814534.

Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome

Mohammad Almeqdadi, Jennifer L. Kemppainen, Pavel N. Pichurin, Ralitza H. Gavrilova

Am J Case Rep. 2018; 19: 347–353. Published online 2018 Mar 25. doi: 10.12659/AJCR.907395

PMCID:: PMC5881453

Abstract Article PDF–495K

Select item 26680595.

Mutations in C2orf37, Encoding a Nucleolar Protein, Cause Hypogonadism, Alopecia, Diabetes Mellitus, Mental Retardation, and Extrapyramidal Syndrome

Anas M. Alazami, Amr Al-Saif, Abdulaziz Al-Semari, Saeed Bohlega, Soumaya Zlitni, Fatema Alzahrani, Prashant Bavi, Namik Kaya, Dilek Colak, Hanif Khalak, Andy Baltus, Borut Peterlin, Sumita Danda, Kailash P. Bhatia, Susanne A. Schneider, Nadia Sakati, Christopher A. Walsh, Futwan Al-Mohanna, Brian Meyer, Fowzan S. Alkuraya

Am J Hum Genet. 2008 Dec 12; 83(6): 684–691. Published online 2008 Dec 5. doi: 10.1016/j.ajhg.2008.10.018

PMCID:: PMC2668059

Abstract Article PDF–1.1M

Select item 27209336.

An interaction network of the mammalian COP9 signalosome identifies Dda1 as a core subunit of multiple Cul4-based E3 ligases

Michael Hans Olma, Marcia Roy, Thierry Le Bihan, Izabela Sumara, Sarah Maerki, Brett Larsen, Manfredo Quadroni, Matthias Peter, Mike Tyers, Lionel Pintard

J Cell Sci. 2009 Apr 1; 122(7): 1035–1044. Published online 2009 Mar 18. doi: 10.1242/jcs.043539

PMCID:: PMC2720933

Abstract Article

Select item 38174047.

A negative genetic interaction map in isogenic cancer cell lines reveals cancer cell vulnerabilities

Franco J Vizeacoumar, Roland Arnold, Frederick S Vizeacoumar, Megha Chandrashekhar, Alla Buzina, Jordan T F Young, Julian H M Kwan, Azin Sayad, Patricia Mero, Steffen Lawo, Hiromasa Tanaka, Kevin R Brown, Anastasia Baryshnikova, Anthony B Mak, Yaroslav Fedyshyn, Yadong Wang, Glauber C Brito, Dahlia Kasimer, Taras Makhnevych, Troy Ketela, Alessandro Datti, Mohan Babu, Andrew Emili, Laurence Pelletier, Jeff Wrana, Zev Wainberg, Philip M Kim, Robert Rottapel, Catherine A O’Brien, Brenda Andrews, Charles Boone, Jason Moffat

Mol Syst Biol. 2013; 9: 696. Published online 2013 Oct 8. doi: 10.1038/msb.2013.54

PMCID:: PMC3817404

Abstract Article PDF–13M

Select item 29019988.

Network organization of the human autophagy system

Christian Behrends, Mathew E. Sowa, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2011 Jan 1.

Published in final edited form as: Nature. 2010 Jul 1; 466(7302): 68–76. Published online 2010 Jun 20. doi: 10.1038/nature09204

PMCID:: PMC2901998

Abstract Article PDF–1.4M

Select item 60777229.

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 1056587610.

Pulse-SILAC and Interactomics Reveal Distinct DDB1-CUL4–Associated Factors, Cellular Functions, and Protein Substrates

Jennifer Raisch, Marie-Line Dubois, Marika Groleau, Dominique Lévesque, Thomas Burger, Carla-Marie Jurkovic, Romain Brailly, Gwendoline Marbach, Alyson McKenna, Catherine Barrette, Pierre-Étienne Jacques, François-Michel Boisvert

Mol Cell Proteomics. 2023 Oct; 22(10): 100644. Published online 2023 Sep 7. doi: 10.1016/j.mcpro.2023.100644

PMCID:: PMC10565876

Abstract Article PDF–3.7M

Select item 911973611.

OpenCell: proteome-scale endogenous tagging enables the cartography of human cellular organization

Nathan H. Cho, Keith C. Cheveralls, Andreas-David Brunner, Kibeom Kim, André C. Michaelis, Preethi Raghavan, Hirofumi Kobayashi, Laura Savy, Jason Y. Li, Hera Canaj, James Y.S. Kim, Edna M. Stewart, Christian Gnann, Frank McCarthy, Joana P. Cabrera, Rachel M. Brunetti, Bryant B. Chhun, Greg Dingle, Marco Y. Hein, Bo Huang, Shalin B. Mehta, Jonathan S. Weissman, Rafael Gómez-Sjöberg, Daniel N. Itzhak, Loic A. Royer, Matthias Mann, Manuel D. Leonetti

Science. Author manuscript; available in PMC 2022 Sep 11.

Published in final edited form as: Science. 2022 Mar 11; 375(6585): eabi6983. Published online 2022 Mar 11. doi: 10.1126/science.abi6983

PMCID:: PMC9119736

Abstract Article PDF–3.3M

Select item 461721112.

The BioPlex Network: A Systematic Exploration of the Human Interactome

Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2016 Jul 16.

Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043

PMCID:: PMC4617211

Abstract Article PDF–2.2M

Select item 553161113.

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 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