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De novo, deleterious sequence variants that alter the transcriptional activity of the homeoprotein PBX1 are associated with intellectual disability and pleiotropic developmental defects
Anne Slavotinek, Maurizio Risolino, Marta Losa, Megan T Cho, Kristin G Monaghan, Dina Schneidman-Duhovny, Sarah Parisotto, Johanna C Herkert, Alexander P A Stegmann, Kathryn Miller, Natasha Shur, Jacqueline Chui, Eric Muller, Suzanne DeBrosse, Justin O Szot, Gavin Chapman, Nicholas S Pachter, David S Winlaw, Bryce A Mendelsohn, Joline Dalton, Kyriakie Sarafoglou, Peter I Karachunski, Jane M Lewis, Helio Pedro, Sally L Dunwoodie, Licia Selleri, Joseph Shieh
Hum Mol Genet. 2017 Dec 15; 26(24): 4849–4860. Published online 2017 Sep 22. doi: 10.1093/hmg/ddx363
PMCID:
PMC6455034
Abstract Article PDF–587K

Is Cited by the Following 24 Articles in this Archive:

Comprehensive summary: the role of PBX1 in development and cancers
Mingsheng Liu, Yan Xing, Jiufeng Tan, Xiaoliang Chen, Yaming Xue, Licheng Qu, Jianchao Ma, Xuefei Jin
Front Cell Dev Biol. 2024; 12: 1442052. Published online 2024 Jul 26. doi: 10.3389/fcell.2024.1442052
PMCID:
PMC11310070
Abstract Article PDF–3.0M
PBX1: a TALE of two seasons—key roles during development and in cancer
Laura Crisafulli, Matteo Brindisi, Mirko Giuseppe Liturri, Cristina Sobacchi, Francesca Ficara
Front Cell Dev Biol. 2024; 12: 1372873. Published online 2024 Feb 9. doi: 10.3389/fcell.2024.1372873
PMCID:
PMC10884236
Abstract Article PDF–1.0M
Ocular manifestations of congenital anomalies of the kidney and urinary tract (CAKUT)
James Virth, Heather G. Mack, Deb Colville, Emma Crockett, Judy Savige
Pediatr Nephrol. 2024; 39(2): 357–369. Published online 2023 Jul 20. doi: 10.1007/s00467-023-06068-9
PMCID:
PMC10728251
Abstract Article PDF–1.0M
Maternal pre-conceptional glyphosate exposure impacts the offspring hepatic and ovarian proteome
Gulnara Novbatova, Kelsey Timme, Andrew Severin, Maryam Sayadi, Aileen F Keating
Toxicol Sci. 2023 Jul; 194(1): 23–37. Published online 2023 May 19. doi: 10.1093/toxsci/kfad047
PMCID:
PMC10306405
Abstract Article PDF–713K
Comprehensive overview of the role of PBX1 in mammalian kidneys
Fei Zou, Mingsheng Liu, Yutong Sui, Jinyu Liu
Front Mol Biosci. 2023; 10: 1106370. Published online 2023 Mar 17. doi: 10.3389/fmolb.2023.1106370
PMCID:
PMC10063971
Abstract Article PDF–770K
Functional Assessment of a New PBX1 Variant in a 46,XY Fetus with Severe Syndromic Difference of Sexual Development through CRISPR-Cas9 Gene Editing
Laura Mary, Delphine Leclerc, Audrey Labalme, Pascale Bellaud, Séverine Mazaud-Guittot, Stéphane Dréano, Bertrand Evrard, Antoine Bigand, Aurélie Cauchoix, Philippe Loget, Anna Lokchine, Laurence Cluzeau, David Gilot, Marc-Antoine Belaud-Rotureau, Sylvie Jaillard
Genes (Basel) 2023 Feb; 14(2): 273. Published online 2023 Jan 20. doi: 10.3390/genes14020273
PMCID:
PMC9956894
Abstract Article PDF–4.8M
Prenatal diagnosis and molecular cytogenetic analyses of a paternal inherited deletion of 1q23.3 encompassing PBX1 gene
Man Luo, Xia Gu, Ting Zhou, Chaoli Chen
Mol Cytogenet. 2022; 15: 53. Published online 2022 Dec 21. doi: 10.1186/s13039-022-00632-y
PMCID:
PMC9768991
Abstract Article PDF–959K
Genetically Modified Mouse Models of Congenital Diaphragmatic Hernia: Opportunities and Limitations for Studying Altered Lung Development
Florian Friedmacher, Udo Rolle, Prem Puri
Front Pediatr. 2022; 10: 867307. Published online 2022 May 13. doi: 10.3389/fped.2022.867307
PMCID:
PMC9136148
Abstract Article PDF–332K
Novel somatic PBX1 mosaicism likely masking syndromic CAKUT in an adult with bilateral kidney hypoplasia
Friederike Petzold, Wenjun Jin, Elena Hantmann, Katharina Korbach, Ria Schönauer, Jan Halbritter
Clin Kidney J. 2022 Jul; 15(7): 1333–1339. Published online 2022 Apr 6. doi: 10.1093/ckj/sfac092
PMCID:
PMC9217644
Abstract Article PDF–894K
Underlying Genetic Etiologies of Congenital Diaphragmatic Hernia
Daryl A. Scott, Yoel Gofin, Aliska M. Berry, April D. Adams
Prenat Diagn. Author manuscript; available in PMC 2023 Mar 1.
Published in final edited form as: Prenat Diagn. 2022 Mar; 42(3): 373–386. Published online 2022 Jan 22. doi: 10.1002/pd.6099
PMCID:
PMC8924940
Abstract Article PDF–140K
Case Report: Candidate Genes Associated With Prenatal Ultrasound Anomalies in a Fetus With Prenatally Detected 1q23.3q31.2 Deletion
Jiahao Song, Qian Zhang, Bing Lu, Zhongshan Gou, Ting Wang, Hui Tang, Jingjing Xiang, Wei Jiang, Xuedong Deng
Front Genet. 2021; 12: 696624. Published online 2021 Sep 23. doi: 10.3389/fgene.2021.696624
PMCID:
PMC8496901
Abstract Article PDF–1.4M
Patterns of allele frequency differences among domestic cat breeds assessed by a 63K SNP array
Hasan Alhaddad, Mona Abdi, Leslie A. Lyons
PLoS One. 2021; 16(2): e0247092. Published online 2021 Feb 25. doi: 10.1371/journal.pone.0247092
PMCID:
PMC7906347
Abstract Article PDF–2.1M
Duplications involving the long range HMX1 enhancer are associated with human isolated bilateral concha-type microtia
Nuo Si, Xiaolu Meng, Xiaosheng Lu, Zhe Liu, Zhan Qi, Lianqing Wang, Chuan Li, Meirong Yang, Ye Zhang, Changchen Wang, Peipei Guo, Lingdong Zhu, Lei Liu, Zhengyong Li, Zhenyu Zhang, Zhen Cai, Bo Pan, Haiyue Jiang, Xue Zhang
J Transl Med. 2020; 18: 244. Published online 2020 Jun 17. doi: 10.1186/s12967-020-02409-6
PMCID:
PMC7302384
Abstract Article PDF–5.6M
Paternal mosaicism for a novel PBX1 mutation associated with recurrent perinatal death: Phenotypic expansion of the PBX1‐related syndrome
Peer Arts, Jessica Garland, Alicia B. Byrne, Tristan S.E. Hardy, Milena Babic, Jinghua Feng, Paul Wang, Thuong Ha, Sarah L. King‐Smith, Andreas W. Schreiber, April Crawford, Nick Manton, Lynette Moore, Christopher P. Barnett, Hamish S. Scott
Am J Med Genet A. 2020 May; 182(5): 1273–1277. Published online 2020 Mar 6. doi: 10.1002/ajmg.a.61541
PMCID:
PMC7217179
Abstract Article PDF–5.3M
Context-dependent gene regulation by homeodomain transcription factor complexes revealed by shape-readout deficient proteins
Judith F. Kribelbauer, Ryan E. Loker, Siqian Feng, Chaitanya Rastogi, Namiko Abe, H. Tomas Rube, Harmen J. Bussemaker, Richard S. Mann
Mol Cell. Author manuscript; available in PMC 2021 Apr 2.
Published in final edited form as: Mol Cell. 2020 Apr 2; 78(1): 152–167.e11. Published online 2020 Feb 12. doi: 10.1016/j.molcel.2020.01.027
PMCID:
PMC7197192
Abstract Article PDF–3.9M
Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease
Dimuthu Alankarage, Justin O Szot, Nick Pachter, Anne Slavotinek, Licia Selleri, Joseph T Shieh, David Winlaw, Eleni Giannoulatou, Gavin Chapman, Sally L Dunwoodie
Hum Mol Genet. 2020 May 8; 29(7): 1068–1082. Published online 2019 Oct 18. doi: 10.1093/hmg/ddz231
PMCID:
PMC7206850
Abstract Article PDF–1.5M
The influence of genetics in congenital diaphragmatic hernia
Lan Yu, Rebecca R. Hernan, Julia Wynn, Wendy K Chung
Semin Perinatol. Author manuscript; available in PMC 2021 Feb 1.
Published in final edited form as: Semin Perinatol. 2020 Feb; 44(1): 151169. Published online 2019 Aug 1. doi: 10.1053/j.semperi.2019.07.008
PMCID:
PMC6994346
Abstract Article PDF–401K
Partial gonadal dysgenesis associated with a pathogenic variant of PBX1 transcription factor
Farnaaz Kia, Kyriakie Sarafoglou, Ashajyothi Mooganayakanakote Siddappa, Kari D Roberts
BMJ Case Rep. 2019; 12(7): e227986. Published online 2019 Jul 12. doi: 10.1136/bcr-2018-227986
PMCID:
PMC6626438
Abstract Article PDF–201K
Exon sequencing reveals that missense mutation of PBX1 gene may increase the risk of non-syndromic cleft lip/palate
Jian Ma, Bin Yin, Jia-Yu Shi, Yan-Song Lin, Shi-Jun Duan, Bing Shi, Zhong-Lin Jia
Int J Clin Exp Pathol. 2019; 12(7): 2691–2698. Published online 2019 Jul 1.
PMCID:
PMC6949560
Abstract Article PDF–579K
‘Building a perfect body’: control of vertebrate organogenesis by PBX-dependent regulatory networks
Licia Selleri, Vincenzo Zappavigna, Elisabetta Ferretti
Genes Dev. 2019 Mar 1; 33(5-6): 258–275. doi: 10.1101/gad.318774.118
Correction in:
Genes Dev. 2019 May 1; 33(9-10): 590.
PMCID:
PMC6411007
Abstract Article PDF–2.5M
Emerging RAS superfamily conditions involving GTPase function
Joseph T. C. Shieh
PLoS Genet. 2019 Feb; 15(2): e1007870. Published online 2019 Feb 14. doi: 10.1371/journal.pgen.1007870
PMCID:
PMC6375560
Article PDF–749K
De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders
Hongjian Qi, Lan Yu, Xueya Zhou, Julia Wynn, Haoquan Zhao, Yicheng Guo, Na Zhu, Alexander Kitaygorodsky, Rebecca Hernan, Gudrun Aspelund, Foong-Yen Lim, Timothy Crombleholme, Robert Cusick, Kenneth Azarow, Melissa E. Danko, Dai Chung, Brad W. Warner, George B. Mychaliska, Douglas Potoka, Amy J. Wagner, Mahmoud ElFiky, Jay M. Wilson, Debbie Nickerson, Michael Bamshad, Frances A. High, Mauro Longoni, Patricia K. Donahoe, Wendy K. Chung, Yufeng Shen
PLoS Genet. 2018 Dec; 14(12): e1007822. Published online 2018 Dec 10. doi: 10.1371/journal.pgen.1007822
PMCID:
PMC6301721
Abstract Article PDF–2.7M
Functional testing of a human PBX3 variant in zebrafish reveals a potential modifier role in congenital heart defects
Gist H. Farr, III, Kimia Imani, Darren Pouv, Lisa Maves
Dis Model Mech. 2018 Oct 1; 11(10): dmm035972. Published online 2018 Oct 18. doi: 10.1242/dmm.035972
PMCID:
PMC6215422
Abstract Article
Face morphogenesis is promoted by Pbx-dependent EMT via regulation of Snail1 during frontonasal prominence fusion
Marta Losa, Maurizio Risolino, Bingsi Li, James Hart, Laura Quintana, Irina Grishina, Hui Yang, Irene F. Choi, Patrick Lewicki, Sameer Khan, Robert Aho, Jennifer Feenstra, C. Theresa Vincent, Anthony M. C. Brown, Elisabetta Ferretti, Trevor Williams, Licia Selleri
Development. 2018 Mar 1; 145(5): dev157628. doi: 10.1242/dev.157628
PMCID:
PMC5868993
Abstract Article