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Haploinsufficiency

A novel variant in MYBPC3 causes hypertrophic cardiomyopathy by haploinsufficiency

Yuanyuan Zhang, Wenyan Gong, [ ... ], Zhelan Zheng

Proteome-scale prediction of molecular mechanisms underlying dominant genetic diseases

Mihaly Badonyi, Joseph A. Marsh

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

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

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

Sujata Srikanth, Lavanya Jain, [ ... ], Luigi Boccuto

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

Brd2 haploinsufficiency extends lifespan and healthspan in C57B6/J mice

Shilpa Pathak, William C. L. Stewart, [ ... ], David A. Greenberg

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

Gayle P. Pouliot, James Degar, [ ... ], Alejandro Gutierrez

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, [ ... ], Antonio Baldini

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

Mahalia Page, Liam Ridge, [ ... ], Sarah Ivins

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

Antoine Boulanger Piette, Dounia Hamoudi, [ ... ], Jérôme Frenette

Stromal interaction molecule 1 haploinsufficiency causes maladaptive response to pressure overload

Takayoshi Ohba, Hiroyuki Watanabe, [ ... ], Hiroshi Ito

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

Jaspreet Sachdeva, Advitiya Mahajan, [ ... ], Chetan P. Hans

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

Tuoen Liu, Kilannin Krysiak, [ ... ], Matthew J. Walter

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