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Haploinsufficiency

Known as: Haploinsufficiencies 
A copy number variation that results in reduced GENE DOSAGE due to any loss-of-function mutation. The loss of heterozygosity is associated with… 
National Institutes of Health

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aspects of radiation effectsphysiological aspects

Papers overview

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2012
2012
Characterizing the functional consequences of haploinsufficiency of NELF-A (WHSC2) and SLBP identifies novel cellular phenotypes in Wolf-Hirschhorn syndrome.
Wolf-Hirschhorn syndrome (WHS) is a contiguous gene deletion disorder associated with the distal part of the short arm of… 
Highly Cited
2007
Highly Cited
2007
Rac1 mediates the osteoclast gains-in-function induced by haploinsufficiency of Nf1.
Neurofibromatosis type I (NF1) is a congenital disorder resulting from loss-of-function of the tumor suppressor gene, NF1, a… 
2007
2007
Phenotypic effects of null and haploinsufficiency of acid-labile subunit in a family with two novel IGFALS gene mutations.
CONTEXT IGF-I deficiency may result from impairment of GH secretion or action, or from defects in IGF-I synthesis, transport, or… 
Highly Cited
2006
Highly Cited
2006
Haploinsufficiency of RAD51B causes centrosome fragmentation and aneuploidy in human cells.
The Rad51-like proteins, Rad51B, Rad51C, Rad51D, XRCC2, and XRCC3, have been shown to form two distinct complexes and seem to… 
2006
2006
Haploinsufficiency of C2GnT-I glycosyltransferase renders T lymphoma cells resistant to cell death.
Neoplastic T cells in mycosis fungoides (MF) are resistant to apoptotic agents, including galectin-1 that is abundant in skin… 
Highly Cited
2006
Highly Cited
2006
The Noggin null mouse phenotype is strain dependent and haploinsufficiency leads to skeletal defects
Noggin is a secreted peptide that binds and inactivates Bone Morphogenetic Proteins, members of the transforming growth factor… 
2005
2005
Haploinsufficiency for odc modifies mouse skin tumor susceptibility.
Numerous studies have linked overexpression of ornithine decarboxylase (Odc) gene with enhanced susceptibility to mouse skin… 
Highly Cited
2003
Highly Cited
2003
Sotos syndrome and haploinsufficiency of NSD1: clinical features of intragenic mutations and submicroscopic deletions
Sotos syndrome (MIM 117550) is a congenital developmental disorder characterised by overgrowth and advanced bone age in infancy… 
2003
2003
Familial Growth and Skeletal Features Associated with SHOX Haploinsufficiency
This study was designed to determine the intrafamilial effect of SHOX haploinsufficiency on stature, by comparing the growth and… 
Highly Cited
2002
Highly Cited
2002
Germline mutation of ARF in a melanoma kindred.
Familial melanoma predisposition is associated with germline mutations at the CDKN2A/ARF locus in up to 40% of families. The… 
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