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Select item 81159341.

Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia–Gibbs syndrome

Michael M. Khayat, He Li, Varuna Chander, Jianhong Hu, Adam W. Hansen, Shoudong Li, Josh Traynelis, Hua Shen, George Weissenberger, Fabio Stossi, Hannah L. Johnson, James R. Lupski, Jennifer E. Posey, Aniko Sabo, Qingchang Meng, David R. Murdock, Michael Wangler, Richard A. Gibbs

Hum Mutat. Author manuscript; available in PMC 2022 May 1.

Published in final edited form as: Hum Mutat. 2021 May; 42(5): 577–591. Published online 2021 Mar 6. doi: 10.1002/humu.24190

PMCID:: PMC8115934

Abstract Article PDF–1.2M

Select item 68155872.

Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea

Song Yang, Kun Li, Miao-Miao Zhu, Xian-Dao Yuan, Xiao-Lu Jiao, Yun-Yun Yang, Juan Li, Linyi Li, Hui-Na Zhang, Yun-Hui Du, Yong-Xiang Wei, Yan-Wen Qin

Biomed Res Int. 2019; 2019: 5907361. Published online 2019 Oct 13. doi: 10.1155/2019/5907361

PMCID:: PMC6815587

Abstract Article PDF–1.8M

Select item 64656693.

Two Chinese Xia‐Gibbs syndrome patients with partial growth hormone deficiency

Xinran Cheng, Fang Tang, Xuyun Hu, Hongduo Li, Mengting Li, Yiyong Fu, Li Yan, Zhonghui Li, Peng Gou, Na Su, Chunzhu Gong, Weilan He, Rong Xiang, Dongmei Bu, Yiping Shen

Mol Genet Genomic Med. 2019 Apr; 7(4): e00596. Published online 2019 Feb 6. doi: 10.1002/mgg3.596

PMCID:: PMC6465669

Abstract Article PDF–927K

Select item 57012724.

Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome

Mary García-Acero, Johanna Acosta

Mol Syndromol. 2017 Nov; 8(6): 308–312. Published online 2017 Sep 8. doi: 10.1159/000479357

PMCID:: PMC5701272

Abstract Article PDF–155K

Select item 48508915.

De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay

Hui Yang, Ganka Douglas, Kristin G. Monaghan, Kyle Retterer, Megan T. Cho, Luis F. Escobar, Megan E. Tucker, Joan Stoler, Lance H. Rodan, Diane Stein, Warren Marks, Gregory M. Enns, Julia Platt, Rachel Cox, Patricia G. Wheeler, Carrie Crain, Amy Calhoun, Rebecca Tryon, Gabriele Richard, Patrik Vitazka, Wendy K. Chung

Cold Spring Harb Mol Case Stud. 2015 Oct; 1(1): a000562. doi: 10.1101/mcs.a000562

PMCID:: PMC4850891

Abstract Article PDF–1003K

Select item 40675596.

De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea

Fan Xia, Matthew N. Bainbridge, Tiong Yang Tan, Michael F. Wangler, Angela E. Scheuerle, Elaine H. Zackai, Margaret H. Harr, V. Reid Sutton, Roopa L. Nalam, Wenmiao Zhu, Margot Nash, Monique M. Ryan, Joy Yaplito-Lee, Jill V. Hunter, Matthew A. Deardorff, Samantha J. Penney, Arthur L. Beaudet, Sharon E. Plon, Eric A. Boerwinkle, James R. Lupski, Christine M. Eng, Donna M. Muzny, Yaping Yang, Richard A. Gibbs

Am J Hum Genet. 2014 May 1; 94(5): 784–789. doi: 10.1016/j.ajhg.2014.04.006

PMCID:: PMC4067559

Abstract Article PDF–1.0M

Select item 95318377.

AT-hook DNA-binding motif-containing protein one knockdown downregulates EWS-FLI1 transcriptional activity in Ewing’s sarcoma cells

Takao Kitagawa, Daiki Kobayashi, Byron Baron, Hajime Okita, Tatsuo Miyamoto, Rie Takai, Durga Paudel, Tohru Ohta, Yoichi Asaoka, Masayuki Tokunaga, Koji Nakagawa, Makoto Furutani-Seiki, Norie Araki, Yasuhiro Kuramitsu, Masanobu Kobayashi

PLoS One. 2022; 17(10): e0269077. Published online 2022 Oct 4. doi: 10.1371/journal.pone.0269077

PMCID:: PMC9531837

Abstract Article PDF–2.6M

Select item 68048138.

LINC01133 promotes the progression of cervical cancer by sponging miR-4784 to up-regulate AHDC1

Yan Feng, Luyun Qu, Xiuli Wang, Chunyan Liu

Cancer Biol Ther. 2019; 20(12): 1453–1461. Published online 2019 Aug 7. doi: 10.1080/15384047.2019.1647058

PMCID:: PMC6804813

Abstract Article PDF–3.6M

Select item 92021459.

Gibbin mesodermal regulation patterns epithelial development

Ann Collier, Angela Liu, Jessica Torkelson, Jillian Pattison, Sadhana Gaddam, Hanson Zhen, Tiffany Patel, Kelly McCarthy, Hana Ghanim, Anthony Oro

Nature. Author manuscript; available in PMC 2022 Dec 1.

Published in final edited form as: Nature. 2022 Jun; 606(7912): 188–196. Published online 2022 May 18. doi: 10.1038/s41586-022-04727-9

PMCID:: PMC9202145

Abstract Article PDF–5.8M

Select item 333877510.

Intersectin (ITSN) Family of Scaffolds Function as Molecular Hubs in Protein Interaction Networks

Katy A. Wong, Jessica Wilson, Angela Russo, Li Wang, Mustafa Nazir Okur, Xuerong Wang, Negin P. Martin, Erica Scappini, Graeme K. Carnegie, John P. O'Bryan

PLoS One. 2012; 7(4): e36023. Published online 2012 Apr 27. doi: 10.1371/journal.pone.0036023

PMCID:: PMC3338775

Abstract Article PDF–1.7M

Select item 306933911.

Interaction Proteomics Analysis of Polycomb Proteins Defines Distinct PRC1 Complexes in Mammalian Cells

Julien Vandamme, Pamela Völkel, Claire Rosnoblet, Perrine Le Faou, Pierre-Olivier Angrand

Mol Cell Proteomics. 2011 Apr; 10(4): M110.002642. Published online 2011 Jan 31. doi: 10.1074/mcp.M110.002642

PMCID:: PMC3069339

Abstract Article PDF–2.4M

Select item 689239312.

Genetic Screens Reveal FEN1 and APEX2 as BRCA2 Synthetic Lethal Targets

Kristen Mengwasser, Richard Adeyemi, Yumei Leng, Mei Yuk Choi, Connor Clairmont, Alan D’Andrea, Stephen J. Elledge

Mol Cell. Author manuscript; available in PMC 2019 Dec 4.

Published in final edited form as: Mol Cell. 2019 Mar 7; 73(5): 885–899.e6. Published online 2019 Jan 24. doi: 10.1016/j.molcel.2018.12.008

PMCID:: PMC6892393

Abstract Article PDF–1.7M

Select item 408237213.

The palmitoyl acyltransferase HIP14 shares a high proportion of interactors with huntingtin: implications for a role in the pathogenesis of Huntington's disease

Stefanie L. Butland, Shaun S. Sanders, Mandi E. Schmidt, Sean-Patrick Riechers, David T.S. Lin, Dale D.O. Martin, Kuljeet Vaid, Rona K. Graham, Roshni R. Singaraja, Erich E. Wanker, Elizabeth Conibear, Michael R. Hayden

Hum Mol Genet. 2014 Aug 1; 23(15): 4142–4160. Published online 2014 Apr 4. doi: 10.1093/hmg/ddu137

PMCID:: PMC4082372

Abstract Article PDF–1.7M

Select item 599210414.

Comparative Protein Interaction Network Analysis Identifies Shared and Distinct Functions for the Human ROCO Proteins

James E. Tomkins, Sybille Dihanich, Alexandra Beilina, Raffaele Ferrari, Nicolò Ilacqua, Mark R. Cookson, Patrick A. Lewis, Claudia Manzoni

Proteomics. 2018 May; 18(10): 1700444. Published online 2018 Apr 17. doi: 10.1002/pmic.201700444

PMCID:: PMC5992104

Abstract Article PDF–1.2M

Select item 805077515.

Proximity-dependent Mapping of the Androgen Receptor Identifies Kruppel-like Factor 4 as a Functional Partner

Lauriane Vélot, Frédéric Lessard, Félix-Antoine Bérubé-Simard, Christophe Tav, Bertrand Neveu, Valentine Teyssier, Imène Boudaoud, Ugo Dionne, Noémie Lavoie, Steve Bilodeau, Frédéric Pouliot, Nicolas Bisson

Mol Cell Proteomics. 2021; 20: 100064. Published online 2021 Feb 26. doi: 10.1016/j.mcpro.2021.100064

PMCID:: PMC8050775

Abstract Article PDF–3.6M

Select item 1093326716.

Interaction network of human early embryonic transcription factors

Lisa Gawriyski, Zenglai Tan, Xiaonan Liu, Iftekhar Chowdhury, Dicle Malaymar Pinar, Qin Zhang, Jere Weltner, Eeva-Mari Jouhilahti, Gong-Hong Wei, Juha Kere, Markku Varjosalo

EMBO Rep. 2024 Mar; 25(3): 1589–1622. Published online 2024 Jan 31. doi: 10.1038/s44319-024-00074-0

PMCID:: PMC10933267

Abstract Article PDF–2.9M

Select item 831454717.

SNX27-driven membrane localisation of OTULIN antagonises linear ubiquitination and NF-κB signalling activation

Ruona Shi, Xue Shi, Dajiang Qin, Shibing Tang, Michiel Vermeulen, Xiaofei Zhang

Cell Biosci. 2021; 11: 146. Published online 2021 Jul 27. doi: 10.1186/s13578-021-00659-5

PMCID:: PMC8314547

Abstract Article PDF–3.7M

Select item 438092818.

Phospho-tyrosine dependent protein–protein interaction network

Arndt Grossmann, Nouhad Benlasfer, Petra Birth, Anna Hegele, Franziska Wachsmuth, Luise Apelt, Ulrich Stelzl

Mol Syst Biol. 2015 Mar; 11(3): 0794. Published online 2015 Mar 26. doi: 10.15252/msb.20145968

PMCID:: PMC4380928

Abstract Article PDF–1.9M

Select item 860245119.

Identification of proximal SUMO-dependent interactors using SUMO-ID

Orhi Barroso-Gomila, Fredrik Trulsson, Veronica Muratore, Iñigo Canosa, Laura Merino-Cacho, Ana Rosa Cortazar, Coralia Pérez, Mikel Azkargorta, Ibon Iloro, Arkaitz Carracedo, Ana M. Aransay, Felix Elortza, Ugo Mayor, Alfred C. O. Vertegaal, Rosa Barrio, James D. Sutherland

Nat Commun. 2021; 12: 6671. Published online 2021 Nov 18. doi: 10.1038/s41467-021-26807-6

PMCID:: PMC8602451

Abstract Article PDF–11M

Select item 729072120.

Comparative Application of BioID and TurboID for Protein-Proximity Biotinylation

Danielle G. May, Kelsey L. Scott, Alexandre R. Campos, Kyle J. Roux

Cells. 2020 May; 9(5): 1070. Published online 2020 Apr 25. doi: 10.3390/cells9051070

PMCID:: PMC7290721

Abstract Article PDF–9.2M

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