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Haploinsufficiency

A novel variant in MYBPC3 causes hypertrophic cardiomyopathy by haploinsufficiency

Yuanyuan Zhang, Wenyan Gong, Yusheng Cong, Xingwei Zhang, Zhelan Zheng

published 24 Oct 2025

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Proteome-scale prediction of molecular mechanisms underlying dominant genetic diseases

Mihaly Badonyi, Joseph A. Marsh

published 22 Aug 2024

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Sex-dependent effects of Setd1a haploinsufficiency on development and adult behaviour

Matthew L. Bosworth, Anthony R. Isles, Lawrence S. Wilkinson, Trevor Humby

published 14 Aug 2024

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Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome

Sujata Srikanth, Lavanya Jain, Cinthya Zepeda-Mendoza, Lauren Cascio, Kelly Jones, Rini Pauly, Barb DuPont, Curtis Rogers, Sara Sarasua, Katy Phelan, Cynthia Morton, Luigi Boccuto

published 06 Jul 2021

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Assembly assay identifies a critical region of human fibrillin-1 required for 10–12 nm diameter microfibril biogenesis

Sacha A. Jensen, Ondine Atwa, Penny A. Handford

published 18 Mar 2021

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Brd2 haploinsufficiency extends lifespan and healthspan in C57B6/J mice

Shilpa Pathak, William C. L. Stewart, Christin E. Burd, Mark E. Hester, David A. Greenberg

published 19 Jun 2020

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Fanconi-BRCA pathway mutations in childhood T-cell acute lymphoblastic leukemia

Gayle P. Pouliot, James Degar, Laura Hinze, Bose Kochupurakkal, Chau D. Vo, Melissa A. Burns, Lisa Moreau, Chirag Ganesa, Justine Roderick, Sofie Peirs, Bjorn Menten, Mignon L. Loh, Stephen P. Hunger, Lewis B. Silverman, Marian H. Harris, Kristen E. Stevenson, David M. Weinstock, Andrew P. Weng, Pieter Van Vlierberghe, Alan D. D’Andrea, Alejandro Gutierrez

published 13 Nov 2019

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Left pulmonary artery in 22q11.2 deletion syndrome. Echocardiographic evaluation in patients without cardiac defects and role of Tbx1 in mice

Gioia Mastromoro, Giulio Calcagni, Paolo Versacci, Carolina Putotto, Marcello Chinali, Caterina Lambiase, Marta Unolt, Elena Pelliccione, Silvia Anaclerio, Cinzia Caprio, Sara Cioffi, Marchesa Bilio, Anwar Baban, Fabrizio Drago, Maria Cristina Digilio, Bruno Marino, Antonio Baldini

published 01 Apr 2019

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Loss of CXCL12/CXCR4 signalling impacts several aspects of cardiovascular development but does not exacerbate Tbx1 haploinsufficiency

Mahalia Page, Liam Ridge, Diana Gold Diaz, Tsolmon Tsogbayar, Peter J. Scambler, Sarah Ivins

published 08 Nov 2018

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Utrophin haploinsufficiency does not worsen the functional performance, resistance to eccentric contractions and force production of dystrophic mice

Antoine Boulanger Piette, Dounia Hamoudi, Laetitia Marcadet, Frédérique Kyomi Labelle, Rares Ovidiu David, Sabrina Bossé, Anteneh Argaw, Jérôme Frenette

published 07 Jun 2018

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Stromal interaction molecule 1 haploinsufficiency causes maladaptive response to pressure overload

Takayoshi Ohba, Hiroyuki Watanabe, Manabu Murakami, Kenji Iino, Takeshi Adachi, Yoshihiro Baba, Tomohiro Kurosaki, Kyoichi Ono, Hiroshi Ito

published 16 Nov 2017

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Smooth muscle cell-specific Notch1 haploinsufficiency restricts the progression of abdominal aortic aneurysm by modulating CTGF expression

Jaspreet Sachdeva, Advitiya Mahajan, Jeeyun Cheng, Jeremy T. Baeten, Brenda Lilly, Helena Kuivaniemi, Chetan P. Hans

published 31 May 2017

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Knockdown of HSPA9 induces TP53-dependent apoptosis in human hematopoietic progenitor cells

Tuoen Liu, Kilannin Krysiak, Cara Lunn Shirai, Sanghyun Kim, Jin Shao, Matthew Ndonwi, Matthew J. Walter

published 08 Feb 2017

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