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Select item 101171591.

ANKRD11 pathogenic variants and 16q24.3 microdeletions share an altered DNA methylation signature in patients with KBG syndrome

Zain Awamleh, Sanaa Choufani, Cheryl Cytrynbaum, Fowzan S Alkuraya, Stephen Scherer, Sofia Fernandes, Catarina Rosas, Pedro Louro, Patricia Dias, Mariana Tomásio Neves, Sérgio B Sousa, Rosanna Weksberg

Hum Mol Genet. 2023 May 1; 32(9): 1429–1438. Published online 2022 Nov 28. doi: 10.1093/hmg/ddac289

PMCID:: PMC10117159

Abstract Article PDF–815K

Select item 91804632.

Expanding the Molecular Spectrum of ANKRD11 Gene Defects in 33 Patients with a Clinical Presentation of KBG Syndrome

Ilaria Bestetti, Milena Crippa, Alessandra Sironi, Francesca Tumiatti, Maura Masciadri, Marie Falkenberg Smeland, Swati Naik, Oliver Murch, Maria Teresa Bonati, Alice Spano, Elisa Cattaneo, Milena Mariani, Fabio Gotta, Francesca Crosti, Pietro Cavalli, Chiara Pantaleoni, Federica Natacci, Maria Francesca Bedeschi, Donatella Milani, Silvia Maitz, Angelo Selicorni, Luigina Spaccini, Angela Peron, Silvia Russo, Lidia Larizza, Karen Low, Palma Finelli

Int J Mol Sci. 2022 Jun; 23(11): 5912. Published online 2022 May 25. doi: 10.3390/ijms23115912

PMCID:: PMC9180463

Abstract Article PDF–1.8M

Select item 89488163.

Genetic and Phenotypic Spectrum of KBG Syndrome: A Report of 13 New Chinese Cases and a Review of the Literature

Fenqi Gao, Xiu Zhao, Bingyan Cao, Xin Fan, Xiaoqiao Li, Lele Li, Shengbin Sui, Zhe Su, Chunxiu Gong

J Pers Med. 2022 Mar; 12(3): 407. Published online 2022 Mar 5. doi: 10.3390/jpm12030407

PMCID:: PMC8948816

Abstract Article PDF–1.5M

Select item 87144744.

五例 Keishi-Bukuryo-Gan综合征患儿临床及遗传学特征分析

Shiqi WANG, Haiyan WEI, Dongxia FU, Xiaojing LIU, Linghua SHEN, Shengnan WU, Yongxing CHEN

Zhejiang Da Xue Xue Bao Yi Xue Ban. 2021 Aug; 50(4): 494–499. Chinese. doi: 10.3724/zdxbyxb-2021-0268

PMCID:: PMC8714474

Abstract Article PDF–6.7M

Select item 83940415.

Wide Fontanels, Delayed Speech Development and Hoarse Voice as Useful Signs in the Diagnosis of KBG Syndrome: A Clinical Description of 23 Cases with Pathogenic Variants Involving the ANKRD11 Gene or Submicroscopic Chromosomal Rearrangements of 16q24.3

Anna Kutkowska-Kaźmierczak, Maria Boczar, Ewa Kalka, Jennifer Castañeda, Jakub Klapecki, Aleksandra Pietrzyk, Artur Barczyk, Olga Malinowska, Aleksandra Landowska, Tomasz Gambin, Katarzyna Kowalczyk, Barbara Wiśniowiecka-Kowalnik, Marta Smyk, Mateusz Dawidziuk, Katarzyna Niepokój, Magdalena Paczkowska, Paweł Szyld, Beata Lipska-Ziętkiewicz, Krzysztof Szczałuba, Ewa Kostyk, Agata Runge, Karolina Rutkowska, Rafał Płoski, Beata Nowakowska, Jerzy Bal, Ewa Obersztyn, Monika Gos

Genes (Basel) 2021 Aug; 12(8): 1257. Published online 2021 Aug 17. doi: 10.3390/genes12081257

PMCID:: PMC8394041

Abstract Article PDF–2.0M

Select item 78988016.

Two loss‐of‐function ANKRD11 variants in Chinese patients with short stature and a possible molecular pathway

Tingting Zhang, Yun Yang, Xueling Yin, Xueqing Wang, Jihong Ni, Zhiya Dong, Chuanyin Li, Wenli Lu

Am J Med Genet A. 2021 Mar; 185(3): 710–718. Published online 2020 Dec 22. doi: 10.1002/ajmg.a.62024

PMCID:: PMC7898801

Abstract Article PDF–2.2M

Select item 63328627.

Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report

Rita Maria Alves, Paolo Uva, Marielza F. Veiga, Manuela Oppo, Fabiana C. R. Zschaber, Giampiero Porcu, Henrique P. Porto, Ivana Persico, Stefano Onano, Gianmauro Cuccuru, Rossano Atzeni, Lauro C. N. Vieira, Marcos V. A. Pires, Francesco Cucca, Maria Betânia P. Toralles, Andrea Angius, Laura Crisponi

BMC Med Genet. 2019; 20: 16. Published online 2019 Jan 14. doi: 10.1186/s12881-019-0745-7

PMCID:: PMC6332862

Abstract Article PDF–1.6M

Select item 55374158.

ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

Satoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, Makoto Nabetani, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Takeshi Mizuguchi, Akira Ohtake, Hirotomo Saitsu, Naomichi Matsumoto

J Hum Genet. 2017 Aug; 62(8): 741–746. Published online 2017 Mar 2. doi: 10.1038/jhg.2017.24

PMCID:: PMC5537415

Abstract Article PDF–769K

Select item 55374119.

A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin–Siris-like syndrome

Tadashi Kaname, Kumiko Yanagi

J Hum Genet. 2017 Aug; 62(8): 739–740. Published online 2017 Jun 1. doi: 10.1038/jhg.2017.58

PMCID:: PMC5537411

Article PDF–63K

Select item 553319810.

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

Francesca Novara, Berardo Rinaldi, Sanjay M Sisodiya, Antonietta Coppola, Sabrina Giglio, Franco Stanzial, Francesco Benedicenti, Alan Donaldson, Joris Andrieux, Rachel Stapleton, Astrid Weber, Paolo Reho, Conny van Ravenswaaij-Arts, Wilhelmina S Kerstjens-Frederikse, Joris Robert Vermeesch, Koenraad Devriendt, Carlos A Bacino, Andrée Delahaye, S M Maas, Achille Iolascon, Orsetta Zuffardi

Eur J Hum Genet. 2017 Jun; 25(6): 694–701. Published online 2017 Apr 19. doi: 10.1038/ejhg.2017.49

PMCID:: PMC5533198

Abstract Article PDF–760K

Select item 511100511.

KBG syndrome involving a single-nucleotide duplication in ANKRD11

Robert Kleyner, Janet Malcolmson, David Tegay, Kenneth Ward, Annette Maughan, Glenn Maughan, Lesa Nelson, Kai Wang, Reid Robison, Gholson J. Lyon

Cold Spring Harb Mol Case Stud. 2016 Nov; 2(6): a001131. doi: 10.1101/mcs.a001131

PMCID:: PMC5111005

Abstract Article PDF–2.0M

Select item 195047412.

Characterization of Transcriptional Regulatory Domains of Ankyrin Repeat Cofactor-1

Aihua Zhang, Chia-Wei Li, J. Don Chen

Biochem Biophys Res Commun. Author manuscript; available in PMC 2008 Jul 13.

Published in final edited form as: Biochem Biophys Res Commun. 2007 Jul 13; 358(4): 1034–1040. Published online 2007 May 11. doi: 10.1016/j.bbrc.2007.05.017

PMCID:: PMC1950474

Abstract Article PDF–860K

Select item 1038065413.

Loss of ANCO1 Expression Regulates Chromatin Accessibility and Drives Progression of Early-Stage Triple-Negative Breast Cancer

Meng Yuan, Megan E. Barefoot, Kendell Peterson, Moray J. Campbell, Jan K. Blancato, Manjing Chen, Marcel O. Schmidt, Amber J. Kiliti, Hong-Bin Fang, Anton Wellstein, Anna T. Riegel, Ghada M. Sharif

Int J Mol Sci. 2023 Jul; 24(14): 11505. Published online 2023 Jul 15. doi: 10.3390/ijms241411505

PMCID:: PMC10380654

Abstract Article PDF–9.2M

Select item 694505714.

Loss of ANCO1 repression at AIB1/YAP targets drives breast cancer progression

Max H Kushner, Virginie Ory, Garrett T Graham, Ghada M Sharif, William B Kietzman, Sophia Thevissen, Meng Yuan, Marcel O Schmidt, Anton Wellstein, Anna T Riegel

EMBO Rep. 2020 Jan 7; 21(1): e48741. Published online 2019 Dec 2. doi: 10.15252/embr.201948741

PMCID:: PMC6945057

Abstract Article PDF–4.2M

Select item 453819915.

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

Charlotte W Ockeloen, Marjolein H Willemsen, Sonja de Munnik, Bregje WM van Bon, Nicole de Leeuw, Aad Verrips, Sarina G Kant, Elizabeth A Jones, Han G Brunner, Rosa LE van Loon, Eric EJ Smeets, Mieke M van Haelst, Gijs van Haaften, Ann Nordgren, Helena Malmgren, Giedre Grigelioniene, Sascha Vermeer, Pedro Louro, Lina Ramos, Thomas JJ Maal, Celeste C van Heumen, Helger G Yntema, Carine EL Carels, Tjitske Kleefstra

Eur J Hum Genet. 2015 Sep; 23(9): 1176–1185. Published online 2014 Nov 26. doi: 10.1038/ejhg.2014.253

Correction in:: Eur J Hum Genet. 2015 Sep; 23(9): 1270.

PMCID:: PMC4538199

Abstract Article PDF–1.9M

Select item 298726116.

Identification of ANKRD11 and ZNF778 as candidate genes for autism and variable cognitive impairment in the novel 16q24.3 microdeletion syndrome

Marjolein H Willemsen, Bridget A Fernandez, Carlos A Bacino, Erica Gerkes, Arjan PM de Brouwer, Rolph Pfundt, Birgit Sikkema-Raddatz, Stephen W Scherer, Christian R Marshall, Lorraine Potocki, Hans van Bokhoven, Tjitske Kleefstra

Eur J Hum Genet. 2010 Apr; 18(4): 429–435. Published online 2009 Nov 18. doi: 10.1038/ejhg.2009.192

PMCID:: PMC2987261

Abstract Article PDF–428K

Select item 404207317.

Regulation of HER2 Oncogene Transcription by a Multifunctional Coactivator/Corepressor Complex

Jason P. Garee, Christopher D. Chien, Jordan V. Li, Anton Wellstein, Anna T. Riegel

Mol Endocrinol. 2014 Jun; 28(6): 846–859. Published online 2014 Mar 28. doi: 10.1210/me.2013-1379

PMCID:: PMC4042073

Abstract Article

Select item 315515718.

Mutations in ANKRD11 Cause KBG Syndrome, Characterized by Intellectual Disability, Skeletal Malformations, and Macrodontia

Asli Sirmaci, Michail Spiliopoulos, Francesco Brancati, Eric Powell, Duygu Duman, Alex Abrams, Guney Bademci, Emanuele Agolini, Shengru Guo, Berrin Konuk, Asli Kavaz, Susan Blanton, Maria Christina Digilio, Bruno Dallapiccola, Juan Young, Stephan Zuchner, Mustafa Tekin

Am J Hum Genet. 2011 Aug 12; 89(2): 289–294. doi: 10.1016/j.ajhg.2011.06.007

PMCID:: PMC3155157

Abstract Article PDF–703K

Select item 505663019.

The CCND1 870G>A polymorphism is a risk factor for t(11;14)(q13;q32) multiple myeloma

Niels Weinhold, David C Johnson, Daniel Chubb, Bowang Chen, Asta Försti, Fay J Hosking, Peter Broderick, Yussanne P Ma, Sara E Dobbins, Dirk Hose, Brian A Walker, Faith E Davies, Martin F Kaiser, Ni L Li, Walter A Gregory, Graham H Jackson, Mathias Witzens-Harig, Kai Neben, Per Hoffmann, Markus M Nöthen, Thomas W Mühleisen, Lewin Eisele, Fiona M Ross, Anna Jauch, Hartmut Goldschmidt, Richard S Houlston, Gareth J Morgan, Kari Hemminki

Nat Genet. Author manuscript; available in PMC 2016 Oct 10.

Published in final edited form as: Nat Genet. 2013 May; 45(5): 522–525. Published online 2013 Mar 17. doi: 10.1038/ng.2583

PMCID:: PMC5056630

Abstract Article PDF–483K

Select item 31107320.

Gene Expression Profiling in Human Fetal Liver and Identification of Tissue- and Developmental-Stage-Specific Genes through Compiled Expression Profiles and Efficient Cloning of Full-Length cDNAs

Yongtao Yu, Chenggang Zhang, Gangqiao Zhou, Songfeng Wu, Xianghu Qu, Handong Wei, Guichun Xing, Chunna Dong, Yun Zhai, Jinghong Wan, Shuguang Ouyang, Li Li, Shaowen Zhang, Kaixin Zhou, Yinan Zhang, Chutse Wu, Fuchu He

Genome Res. 2001 Aug; 11(8): 1392–1403. doi: 10.1101/gr.175501

PMCID:: PMC311073

Abstract Article PDF–142K

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