Summary: An individual having only one allele at a given locus because of the loss of the other allele through a mutation (e.g., CHROMOSOME DELETION).

Top Publications

  1. Gabriele M, Vulto van Silfhout A, Germain P, Vitriolo A, Kumar R, Douglas E, et al. YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction. Am J Hum Genet. 2017;100:907-925 pubmed publisher
    ..Collectively, these results define a clinical syndrome caused by haploinsufficiency of YY1 through dysregulation of key transcriptional regulators. ..
  2. Bluhm B, Ehlen H, Holzer T, Georgieva V, Heilig J, Pitzler L, et al. miR-322 stabilizes MEK1 expression to inhibit RAF/MEK/ERK pathway activation in cartilage. Development. 2017;144:3562-3577 pubmed publisher
    ..Such mice died perinatally due to tracheal growth restriction and respiratory failure. Hence, a single miRNA can stimulate the production of an inhibitory component of a central signaling pathway to impair cartilage development. ..
  3. Sun X, Kim S, Zhang D, Sun H, Cao Q, Lu X, et al. Deletion of interleukin 1 receptor-associated kinase 1 (Irak1) improves glucose tolerance primarily by increasing insulin sensitivity in skeletal muscle. J Biol Chem. 2017;292:12339-12350 pubmed publisher
  4. Sillence K, Halawani A, Tounsi W, Clarke K, Kiernan M, Madgett T, et al. Rapid RHD Zygosity Determination Using Digital PCR. Clin Chem. 2017;63:1388-1397 pubmed publisher
  5. Holst Hansen T, Abad E, Muntasell A, Lopez Botet M, Jensen M, Trusina A, et al. Impact of Zygosity on Bimodal Phenotype Distributions. Biophys J. 2017;113:148-156 pubmed publisher
    ..In that way, our work shows that zygosity can help us relate the structure and function of gene regulatory networks. ..
  6. Savasta S, Carlone G, Castagnoli R, Chiappe F, Bassanese F, Piras R, et al. X-Linked Hypohidrotic Ectodermal Dysplasia: New Features and a Novel EDA Gene Mutation. Cytogenet Genome Res. 2017;152:111-116 pubmed publisher
    ..To date, our findings indicate that a novel mutation in EDA is associated with X-linked HED, adding it to the repertoire of EDA mutations. ..