Definition of Haploinsufficiency. Meaning of Haploinsufficiency. Synonyms of Haploinsufficiency

Here you will find one or more explanations in English for the word Haploinsufficiency. Also in the bottom left of the page several parts of wikipedia pages related to the word Haploinsufficiency and, of course, Haploinsufficiency synonyms and on the right images related to the word Haploinsufficiency.

Definition of Haploinsufficiency

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Meaning of Haploinsufficiency from wikipedia

- deficiency (DeVivo syndrome) Haploinsufficiency of A20 Haploinsufficiency of PRR12 Holoprosencephaly caused by haploinsufficiency in the Sonic Hedgehog gene...
- 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...
- with active SLE. Germline haploinsufficiency of CTLA-4 leads to CTLA-4 deficiency or CHAI disease (CTLA4 haploinsufficiency with autoimmune infiltration)...
- 1038/ng.3696. PMC 5397297. PMID 27749843. Zweers, Manon C et al. “Haploinsufficiency of TNXB is ****ociated with hypermobility type of Ehlers-Danlos syndrome...
- ribosome ****embly. Mutations in TCOF1 lead to haploinsufficiency of the treacle protein. Haploinsufficiency occurs when a diploid organism has only one...
- for health. This is called haploinsufficiency. For instance, a single copy of the Kmt5b gene leads to haploinsufficiency and results in a skeletal muscle...
- Robin. While Nager syndrome is thought to be most often caused by haploinsufficiency of the spliceosomal factor SF3B4, in over one third of patients tested...
- 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 expression and can result in SON haploinsufficiency. ZTTK syndrome individuals with SON haploinsufficiency display decreased mRNA expression and...
- GTF2I, GTF2IRD1, and LIMK1 are among the genes typically deleted. Haploinsufficiency for the ELN gene, which codes for the extracellular matrix protein...