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DNA methylation of imprint control regions associated with Alzheimer’s disease in non-Hispanic Blacks and non-Hispanic Whites
Alzheimer’s disease (AD) prevalence is twice as high in non-Hispanic Blacks (NHBs) as in non-Hispanic Whites (NHWs). The objective of this study was...
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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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The structure of the TH/INS locus and the parental allele expressed are not conserved between mammals
Parent-of-origin-specific expression of imprinted genes is critical for successful mammalian growth and development. Insulin, coded by the INS gene,...
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Tissue signals imprint Aiolos expression in ILC2s to modulate type 2 immunity
Group 2 innate lymphoid cells (ILC2s) manifest tissue heterogeneity and are crucial modulators of regional immune responses. The molecular mechanisms...
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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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Exploring the potential of genetic analysis in historical blood spots for patients with iodine-deficient goiter and thyroid carcinomas in Switzerland and Germany (1929–1989)
Iodine deficiency-induced goiter continues to be a global public health concern, with varying manifestations based on geography, patient’s age, and...
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Weak founder effects but significant spatial genetic imprint of recent contraction and expansion of European beech populations
Understanding the ecological and evolutionary processes occurring during species range shifts is important in the current context of global change....
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Human activities and densities shape insecticide resistance distribution and dynamics in the virus-vector Culex pipiens mosquitoes from Morocco
BackgroundMosquitoes of the Culex pipiens complex are widely distributed vectors for several arboviruses affecting humans. Consequently, their...
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Silencing XIST on the future active X: Searching human and bovine preimplantation embryos for the repressor
X inactivation is the means of equalizing the dosage of X chromosomal genes in male and female eutherian mammals, so that only one X is active in...
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Disruption of KCNQ1 prevents methylation of the ICR2 and supports the hypothesis that its transcription is necessary for imprint establishment
Beckwith–Wiedemann syndrome (BWS; OMIM #130650) is an imprinting disorder caused by genetic or epigenetic alterations of one or both imprinting...
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Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review
Single locus (Mendelian) diseases are a leading cause of childhood hospitalization, intensive care unit (ICU) admission, mortality, and healthcare...
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Giardiasis from a One Health Perspective
The flagellated protozoan Giardia duodenalis is the etiologic agent of giardiasis, a very common gastrointestinal infection of mammals, including...
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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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ZNF445: a homozygous truncating variant in a patient with Temple syndrome and multilocus imprinting disturbance
BackgroundZNF445 , as well as ZFP57 , is involved in the postfertilization methylation maintenance of multiple imprinting-associated differentially...
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New insights into genome folding by loop extrusion from inducible degron technologies
Chromatin folds into dynamic loops that often span hundreds of kilobases and physically wire distant loci together for gene regulation. These loops...
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The role of transcription factors in sha** regulatory T cell identity
Forkhead box protein 3-expressing (FOXP3 + ) regulatory T cells (T reg cells) suppress conventional T cells and are essential for immunological...
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Giardiasis from a One Health Perspective
The flagellated protozoan Giardia duodenalis is the etiologic agent of giardiasis, a very common gastrointestinal infection of mammals, including...
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Memory B cell subsets have divergent developmental origins that are coupled to distinct imprinted epigenetic states
Memory B cells (MBCs) are phenotypically and functionally diverse, but their developmental origins remain undefined. Murine MBCs can be divided into...
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Uniparental disomy is a chromosomic disorder in the first place
BackgroundUniparental disomy (UPD) is well-known to be closely intermingled with imprinting disorders. Besides, UPD can lead to a disease by...
