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Kagami Ogata syndrome: a small deletion refines critical region for imprinting
Kagami–Ogata syndrome is a rare imprinting disorder and its phenotypic overlap with multiple different etiologies hampers diagnosis. Genetic...
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Promising therapeutic aspects in human genetic imprinting disorders
Genomic imprinting is an epigenetic phenomenon of monoallelic gene expression pattern depending on parental origin. In humans, congenital imprinting...
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Genomic Imprinting and Brain Function
In a small subset of mammalian genes, one of the two inherited copies (alleles) is switched off. Which allele is subject to “genomic imprinting” is...
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First step towards a consensus strategy for multi-locus diagnostic testing of imprinting disorders
BackgroundImprinting disorders, which affect growth, development, metabolism and neoplasia risk, are caused by genetic or epigenetic changes to genes...
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Molecular characterisation of 36 multilocus imprinting disturbance (MLID) patients: a comprehensive approach
BackgroundImprinting disorders (ImpDis) comprise diseases which are caused by aberrant regulation of monoallelically and parent-of-origin-dependent...
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Maintenance of methylation profile in imprinting control regions in human induced pluripotent stem cells
BackgroundParental imprinting is an epigenetic mechanism that leads to monoallelic expression of a subset of genes depending on their parental...
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DNA sequence and chromatin modifiers cooperate to confer epigenetic bistability at imprinting control regions
Genomic imprinting is regulated by parental-specific DNA methylation of imprinting control regions (ICRs). Despite an identical DNA sequence, ICRs...
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G4access identifies G-quadruplexes and their associations with open chromatin and imprinting control regions
Metazoan promoters are enriched in secondary DNA structure-forming motifs, such as G-quadruplexes (G4s). Here we describe ‘G4access’, an approach to...
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Trans-acting genetic variants causing multilocus imprinting disturbance (MLID): common mechanisms and consequences
BackgroundImprinting disorders are a group of congenital diseases which are characterized by molecular alterations affecting differentially...
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Ongoing Challenges in the Diagnosis of 11p15.5-Associated Imprinting Disorders
The overgrowth disorder Beckwith–Wiedemann syndrome and the growth restriction disorder Silver–Russell syndrome have been described as ‘mirror’...
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Risk assessment of assisted reproductive technology and parental age at childbirth for the development of uniparental disomy-mediated imprinting disorders caused by aneuploid gametes
BackgroundOur previous study suggested that assisted reproductive technology (ART) may be a possible risk factor for the development of...
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Germline variants in genes of the subcortical maternal complex and Multilocus Imprinting Disturbance are associated with miscarriage/infertility or Beckwith–Wiedemann progeny
Beckwith–Wiedemann syndrome (BWS, OMIM # 130650) is an imprinting disorder, associated with overgrowth and increased risk of embryonal tumors....
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Epigenetic imprinting alterations as effective diagnostic biomarkers for early-stage lung cancer and small pulmonary nodules
BackgroundEarly lung cancer detection remains a clinical challenge for standard diagnostic biopsies due to insufficient tumor morphological evidence....
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Novel genetic variants of KHDC3L and other members of the subcortical maternal complex associated with Beckwith–Wiedemann syndrome or Pseudohypoparathyroidism 1B and multi-locus imprinting disturbances
BackgroundBeckwith–Wiedemann syndrome (BWS) and Pseudohypoparathyroidism type 1B (PHP1B) are imprinting disorders (ID) caused by deregulation of the...
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Steps towards a computational ethology: an automatized, interactive setup to investigate filial imprinting and biological predispositions
Soon after hatching, the young of precocial species, such as domestic chicks or ducklings, learn to recognize their social partner by simply being...
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Molecular imprinting of miR-559 on a peptide-immobilized poly L-DOPA/silica core–shell and in vitro investigating its effects on HER2-positive breast cancer cells
In a significant percentage of breast cancers, increased expression of the HER2 receptor is seen and is associated with the spread and worsening of...
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Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome
BackgroundGenomics enables individualized diagnosis and treatment, but large challenges remain to functionally interpret rare variants. To date, only...
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Neural pathways of olfactory kin imprinting and kin recognition in zebrafish
Teleost fish exhibit extraordinary cognitive skills that are comparable to those of mammals and birds. Kin recognition based on olfactory and visual...
