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  • 22q11 deletion
  • The 22q11 deletion (or DiGeorge) syndrome (22q11DS), the result of a 1.5- to 3-megabase hemizygous deletion on human chromosome 22, results in dramatically increased susceptibility for "diseases of cortical connectivity" thought to arise during development, including schizophrenia and autism. (pnas.org)
  • A significant portion of patients with 22q11 deletion syndrome (22q11DS) develop psychiatric disorders, including schizophrenia and other psychotic and affective symptoms, and the responsible gene/s are assumed to also play a significant role in the etiology of nonsyndromic psychiatric disease. (springer.com)
  • mice
  • The slow Wallerian degeneration gene, WldS, inhibits axonal spheroid pathology in gracile axonal dystrophy mice. (babraham.ac.uk)
  • Reducing the α-synuclein gene dosage in Df1 /+ mice ameliorated the motor deficits. (sciencemag.org)
  • Here we identify a unifying molecular basis for these observations based on the function of the non-neural ectoderm-specific Grainy head-like genes in mice. (uniprot.org)
  • The present study aimed to investigate cardiovascular autonomic modulation and angiotensin II (Ang II) activity in diabetic mice that were genetically engineered to harbor two or three copies of the angiotensin-converting enzyme gene. (scielo.br)
  • Diabetic and non-diabetic mice harboring 2 or 3 copies of the angiotensin-converting enzyme gene were used in the present study. (scielo.br)
  • occur
  • Chromosome 8p Deletions Are Frequently Large and Co-Occur with 8q Gains and 17p Loss. (pnas.org)
  • We further determined that in classical glioblastoma, these gene dosage gains occur in more than 50% of cases, highlighting patients with classical glioblastoma as a population that may be responsive to CK2-modulating therapeutics. (aacrjournals.org)
  • disorders
  • The slow Wallerian degeneration gene, Wld(S), delays Wallerian degeneration after injury, and also delays 'dying-back' in peripheral nervous system disorders, revealing a mechanistic link between two forms of axon degeneration traditionally considered distinct. (babraham.ac.uk)
  • Some of the disorders included in these CGS are well-known disease entities due to single gene defects (e.g. (mhmedical.com)
  • 22q11DS
  • We show that diminished dosage of the genes deleted in the 1.5-megabase 22q11 minimal critical deleted region in a mouse model of 22q11DS specifically compromises neurogenesis and subsequent differentiation in the cerebral cortex. (pnas.org)
  • We found that diminished 22q11 gene dosage in a 22q11DS mouse model compromises specific cortical neural stem cells, basal progenitors, and alters frequency and distribution of cortical projection neurons and GABAergic interneurons. (pnas.org)
  • Consequently, it is thought that the gene/s responsible for the psychiatric manifestations of 22q11DS also contribute to the genetic etiology of nonsyndromic schizophrenia in the general population. (springer.com)
  • Results
  • These results, together with previous transgenic studies, locate key imprinting control elements within a 400 kb region centromeric of IC2 and demonstrate that each of the two domains of the cluster contains the cis-acting elements required for the imprinting control of its own genes. (babraham.ac.uk)
  • On the basis of these and other results, we conclude that selection for higher gene dosage does not play a major role in driving the fixation of duplication genes. (genetics.org)
  • Using a gene-targeting approach we show that deletion of Grhl2 results in failed closure 3, with mutants exhibiting a split-face malformation and exencephaly, associated with failure of neuro-epithelial folding at the DLHP. (uniprot.org)
  • For most cases, Pelizaeus-Merzbacher disease results from duplication of the dosage sensitive PLP gene. (mhmedical.com)
  • genetic risk
  • The 22q11.2 deletion confers the highest known genetic risk for schizophrenia, but a duplication in the same region is strongly associated with autism and is less common in schizophrenia cases than in the general population. (jneurosci.org)
  • unlikely
  • Many studies have not been replicated, however, and it is therefore highly unlikely that all of these genes play a role. (springer.com)
  • extent
  • A ) Size and extent of chromosome 8p deletions (in blue) and amplifications (in red) from individual HCCs, breast cancers, colon cancers, and lung adenocarcinomas based on aCGH data analysis ( Materials and Methods ). (pnas.org)
  • However
  • However, this chromosome arm contains other candidate TSGs ( 5 ⇓ ⇓ - 8 ), and indeed, most deletions encompass regions adjacent to DLC1 , including the whole 8p22 cytoband or even the whole chromosome 8p arm ( Fig. 1 A ). (pnas.org)