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Items: 1 to 20 of 57

1.
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
AbstractArticlePDF–815K
2.
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
AbstractArticlePDF–1.8M
3.
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
AbstractArticlePDF–1.5M
4.
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
AbstractArticlePDF–6.7M
5.
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
AbstractArticlePDF–2.0M
6.
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
AbstractArticlePDF–2.2M
7.
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
AbstractArticlePDF–1.6M
8.
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
AbstractArticlePDF–769K
9.
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
ArticlePDF–63K
10.
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
AbstractArticlePDF–760K
11.
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
AbstractArticlePDF–2.0M
12.
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
AbstractArticlePDF–860K
13.
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
AbstractArticlePDF–9.2M
14.
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
AbstractArticlePDF–4.2M
15.
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
AbstractArticlePDF–1.9M
16.
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
AbstractArticlePDF–428K
17.
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
AbstractArticle
18.
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
AbstractArticlePDF–703K
19.
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
AbstractArticlePDF–483K
20.
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
AbstractArticlePDF–142K

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