Haploinsufficiency
Haploinsufficiency - Search results - Wiki Haploinsufficiency
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deficiency (DeVivo syndrome) Haploinsufficiency of A20 Haploinsufficiency of PRR12 Holoprosencephaly caused by haploinsufficiency in the Sonic Hedgehog gene...
for health. This is called haploinsufficiency. For instance, a single copy of the Kmt5b gene leads to haploinsufficiency and results in a skeletal muscle...
Haploinsufficiency of A20 is a rare disease caused by mutations in the gene TNFAIP3. This gene is also known as A20. These are variable even within families...- gene expression and can result in SON haploinsufficiency. ZTTK syndrome individuals with SON haploinsufficiency display decreased mRNA expression and...
with active SLE. Germline haploinsufficiency of CTLA-4 leads to CTLA-4 deficiency or CHAI disease (CTLA4 haploinsufficiency with autoimmune infiltration)...
with Hailey–Hailey disease, though the cause is not autoimmune but genetic. A haploinsufficiency of the ATP2C1 gene located on chromosome 3, which encodes the protein...- biology portal Allelotype Allozyme Evolution Genealogical DNA test Haploinsufficiency Meiosis Mendelian error Mendelian inheritance Mitosis Penetrance Polymorphism...
- Pouncey J, Stevens, C., Mackay-Loder L, Terespolsky D, and 31 others. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent...
- ICD-9-CM: 756.59 OMIM: 127300 MeSH: C537119 DiseasesDB: 31950 External resources GeneReviews: SHOX-Related Haploinsufficiency Disorders Orphanet: 240...
GTF2I, GTF2IRD1, and LIMK1 are among the genes typically deleted. Haploinsufficiency for the ELN gene, which codes for the extracellular matrix protein...- One proposal states that the depolarization of astrocytes caused by haploinsufficiency of the ATP1A2 Na+ /K+ -ATPase causes increased release of compounds...
- 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...
gene product is not enough for a normal phenotype (this is called haploinsufficiency). A disease that is caused by a loss-of-function mutation is Gitelman...- (often those with deletions) may have hypopigmented fundi due to OCA2 haploinsufficiency. PWS is related to an epigenetic phenomenon known as imprinting. Normally...
- Judith B.; Acuna, Claudio; Mall, Moritz (14 February 2023). "MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that...
- subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype". Journal of Medical Genetics. 46 (9): 598–606...
(2017-07-14). "The dental phenotype of hairless dogs with FOXI3 haploinsufficiency". Scientific Reports. 7 (1): 5459. Bibcode:2017NatSR...7.5459K. doi:10...
DC (April 2012). "Down syndrome as a model of DNA polymerase beta haploinsufficiency and accelerated aging". Mechanisms of Ageing and Development. 133...- its cause is not known. The main mechanism is thought to involve haploinsufficiency caused by mutations in CBFA1 (also known as Runx2), a gene located...
Argiropoulos B, Lauzon J, Laframboise R, Ahn JW, et al. (2014). "CHD2 haploinsufficiency is associated with developmental delay, intellectual disability, epilepsy...
- Wiki has an article on: haploinsufficiency Wikipedia haploinsufficiency (countable and uncountable, plural haploinsufficiencies) (genetics) The state of
- phenotypes require two genes to be present for normal expression. Haploinsufficiency is the term used to describe a mutant phenotype that only has one