Haploinsufficiency Further reading
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deficiency (DeVivo syndrome) Haploinsufficiency of A20 Haploinsufficiency of PRR12 Holoprosencephaly caused by haploinsufficiency in the Sonic Hedgehog gene...
with active SLE. Germline haploinsufficiency of CTLA-4 leads to CTLA-4 deficiency or CHAI disease (CTLA4 haploinsufficiency with autoimmune infiltration)...
Williams syndrome (section Further reading)GTF2I, GTF2IRD1, and LIMK1 are among the genes typically deleted. Haploinsufficiency for the ELN gene, which codes for the extracellular matrix protein...
catalyzes the deubiquitination of a lysine residue of histone 2A. Haploinsufficiency of this gene is associated with a variety of Kleefstra syndrome involving...
CHD2 (section Further reading)Tihy F, So J, Scherer SW, Lemyre E, Stavropoulos DJ (2014). "CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy...
772G>A transition (i.e. founder mutation in Tuscany These data suggest haploinsufficiency as the main disease mechanism for heterozygous truncating mutations...
SHANK3 (section Further reading)Silverman JL, Crawley JN, Zhou Q, Hof PR, Buxbaum JD (December 2010). "Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic...
Granulin (section Further reading)function. Heterozygous mutation of the GRN gene leading to progranulin haploinsufficiency causes frontotemporal dementia. These mutations include frameshift...
ALX4 (section Further reading)JL, McCaskill C, Vogel H, Potocki L, Shaffer LG (November 2000). "Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous...
Tenascin X (section Further reading)TN-X protein due to mutations or not enough of it being produced (haploinsufficiency) can lead to a rare condition called classical-like Ehlers-Danlos...
TNFAIP3 (section Further reading)onset intractable inflammatory bowel disease has also been reported. Haploinsufficiency of A20 GRCh38: Ensembl release 89: ENSG00000118503 – Ensembl, May...
CHD8 (section Further reading)NA, Riyadh MA, Stradleigh TW, et al. (August 2017). "Germline Chd8 haploinsufficiency alters brain development in mouse". Nature Neuroscience. 20 (8): 1062–1073...
Desmoplakin (section Further reading)KE, Purkis PE, Green KJ, Eady RA, Leigh IM, Hughes AE (Jan 1999). "Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma"...- Short-stature homeobox gene (section Further reading)with short stature in humans if mutated or present in only one copy (haploinsufficiency). SHOX was first found during a search for the cause of short stature...
GATA3 (section Further reading)central role in allergy and immunity against worm infections. GATA3 haploinsufficiency (i.e. loss of one or the two inherited GATA3 genes) results in a congenital...
Autoimmune enteropathy (section Further reading)CTLA-4 than those with CTLA-4 haploinsufficiency, the condition frequently presents earlier in life. CTLA-4 haploinsufficiency results in abnormal regulatory...
overproduced, however the mutations seen in FTLD-TDP43 produce a haploinsufficiency, meaning that because one of the two alleles is damaged, only half...
TRAF3 (section TRAF3 Haploinsufficiency Syndrome)Lymphotoxin beta receptor, Nucleoporin 62, RANK, TANK, and TNFSF14. Haploinsufficiency of TRAF3 in humans is associated with various immunodeficiency and...- Caprin-1 (section Further reading)Scherer SW, Ferrero GB, Wirth B, Brusco A (July 2022). "CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD...
ASH1L (section Further reading)disease, which may be the result of two different genetic mechanisms: haploinsufficiency or dominant negative function. The ClinGen clinical genomics resource...
- protein as a biomarker for aging. In an experiment with murine BubR1 haploinsufficiency, it was found that subjects that eliminated CDKN2a-positive cells