Haploinsufficiency in humans
Haploinsufficiency in humans - Search results - Wiki Haploinsufficiency In Humans
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seen in the case of Williams syndrome, a neurodevelopmental disorder caused by the haploinsufficiency of genes at 7q11.23. The haploinsufficiency is caused...- SET domain containing protein 1A (category Genes on human chromosome 16)Kramer JM, Kleefstra T (June 2021). "Characterization of SETD1A haploinsufficiency in humans and Drosophila defines a novel neurodevelopmental syndrome" (PDF)...
- Trede N, Ellis SR, et al. (May 2013). "Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia". Science. 340 (6135): 976–8...
- of gene expression and can result in SON haploinsufficiency. ZTTK syndrome individuals with SON haploinsufficiency display decreased mRNA expression and...
- B.; Acuna, Claudio; Mall, Moritz (14 February 2023). "MYT1L haploinsufficiency in human neurons and mice causes autism-associated phenotypes that can...
Cytotoxic T-lymphocyte associated protein 4 (category Genes on human chromosome 2)with active SLE. Germline haploinsufficiency of CTLA-4 leads to CTLA-4 deficiency or CHAI disease (CTLA4 haploinsufficiency with autoimmune infiltration)...- A, Mahlaoui N, Byun M, et al. (2013). "Ribosomal protein SA haploinsufficiency in humans with isolated congenital asplenia". Science. 340 (6135): 976–8...
health. This is called haploinsufficiency. For instance, a single copy of the Kmt5b gene leads to haploinsufficiency and results in a skeletal muscle developmental...
syndrome is thought to be most often caused by haploinsufficiency of the spliceosomal factor SF3B4, in over one third of patients tested, the SF3B4 mutation...
predominantly in females of advanced age. Several genes in the deleted region appear to play a role in the pathogenesis of 5q-syndrome. Haploinsufficiency of RPS14...- haploid haploinsufficiency hematopoietic stem cell heterozygous highly conserved sequence holoprosencephaly homologous recombination homozygous human artificial...
Methyl-cpg binding domain protein 5 (category Genes on human chromosome 2)catalyzes the deubiquitination of a lysine residue of histone 2A. Haploinsufficiency of this gene is associated with a variety of Kleefstra syndrome involving...- Short-stature homeobox gene (category Human genes)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 in women...
Chromosome 22 (redirect from Chromosomes, human, pair 22)of chromosomes in human cells. Humans normally have two copies of chromosome 22 in each cell. Chromosome 22 is the second smallest human chromosome, spanning...
Telomerase (section Human telomerase structure)reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome". American Journal of Human Genetics. 72 (4): 940–8. doi:10...
Chromosome 10 (redirect from Chromosomes, human, pair 11)of the parathyroid gland, neural component of hearing, and kidney. Haploinsufficiency of the gene underlies a rare disorder, the hypoparathyrodism, deafness...
ALX4 (category Genes on human chromosome 11)"Haploinsufficiency of ALX4 as a potential cause of parietal foramina in the 11p11.2 contiguous gene-deletion syndrome". American Journal of Human Genetics...
Mutation (redirect from In-frame mutation)is also an example of dominant negative mutation and haploinsufficiency. Lethal mutations result in rapid organismal death when occurring during development...- GLUT1 (category Human genes)facilitated glucose transporter member 1 (SLC2A1), is a uniporter protein that in humans is encoded by the SLC2A1 gene. GLUT1 facilitates the transport of glucose...
- Allele (section Allelic dominance in genetic disorders)mainly in the genetic research of mycology. Evolutionary biology portal Allelotype Allozyme Evolution Genealogical DNA test Haploinsufficiency Meiosis...
- phenotypes require two genes to be present for normal expression. Haploinsufficiency is the term used to describe a mutant phenotype that only has one