Publications by authors named "Simone Reiter"

Article Synopsis
  • - Horses transformed human mobility, but the timeline of their domestication and integration as transport is debated, with new genetic data being used to clarify this history.
  • - Analysis of 475 ancient horse genomes indicates that modern domestic horses were shaped by human intervention around 2200 BCE, after a domestication bottleneck began around 2700 BCE, leading to a significant expansion across Eurasia.
  • - Evidence also suggests that there was early horse husbandry in central Asia at Botai around 3500 BCE, prior to the establishment of contemporary horse bloodlines, challenging the notion of large herds being linked to migrations around 3000 BCE.
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  • The study investigated the clinical characteristics and genetic variations associated with the DHX30-related neurodevelopmental disorder, especially focusing on new missense variants in the gene.
  • Researchers collected clinical and genetic data from affected individuals via social media, collaboration networks, and analyzed the effects of these variants on cellular functions and development using various experimental models, including zebrafish.
  • Findings revealed that individuals with missense variants presented with severe developmental issues, while those with variants leading to milder haploinsufficiency showed less severe symptoms, suggesting the presence of two distinct clinical subtypes based on the type and location of the genetic variants.
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Purpose: Postsynaptic density protein-95 (PSD-95), encoded by DLG4, regulates excitatory synaptic function in the brain. Here we present the clinical and genetic features of 53 patients (42 previously unpublished) with DLG4 variants.

Methods: The clinical and genetic information were collected through GeneMatcher collaboration.

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Article Synopsis
  • Warmblood fragile foal syndrome (WFFS) is an autosomal recessive disorder linked to a genetic variant in the PLOD1 gene that primarily affects warmblood horse breeds.
  • A study screening 4,081 horses across 38 breeds found that 4.9% carried the WFFS allele, with the highest carrier frequency in Hanoverian and Danish Warmbloods at 17%.
  • The origin of the WFFS allele remains unclear, as investigations into a potential link with the Arabian breed were disproven, showing that most Arabians do not carry the mutated allele.
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The roan coat color in horses is characterized by dispersed white hair and dark points. This phenotype segregates in a broad range of horse breeds, while the underlying genetic background is still unknown. Previous studies mapped the roan locus to the KIT gene on equine chromosome 3 (ECA3).

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Background: Whether antidiabetic glitazone drugs protect against Parkinson's disease remains controversial. Although a single clinical trial showed no evidence of disease modulation, retrospective studies suggest that a disease-preventing effect may be plausible. The objective of this study was to examine if the use of glitazone drugs is associated with a lower incidence of PD among diabetic patients.

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Objective: The aim of this study was to investigate life satisfaction in women with epilepsy during and after pregnancy.

Methods: The study was based on the Norwegian Mother and Child Cohort Study, including 102,265 women with and without epilepsy from the general population. Investigation took place at pregnancy weeks 15-19 and 6 and 18months postpartum.

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Objectives: To investigate psychiatric disorders, adverse social aspects and quality of life in men with epilepsy during partner's pregnancy.

Method: We used data from the Norwegian Mother and Child Cohort Study, including 76,335 men with pregnant partners. Men with epilepsy were compared to men without epilepsy, and to men with non-neurological chronic diseases.

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Purpose: The aim was to investigate the prevalence of eating disorders and its relation to pregnancy and delivery complications in childbearing women with epilepsy (WWE).

Method: This study is based on The Norwegian Mother and Child Cohort Study (MoBa) linked to the Medical Birth Registry of Norway. Epilepsy was reported in 706 pregnancies.

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Objective: To assess incidence, prevalence, risk factors, and prognosis of peripartum depression and anxiety in a prospective study of women with epilepsy.

Method: Pregnancies in women with epilepsy (n=706) were compared to pregnancies in all women without epilepsy (n=106,511) including women with specified nonepileptic chronic diseases (n=8,372) in the Norwegian Mother and Child Cohort Study. The database was linked to the Medical Birth Registry of Norway.

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Objective: The objective of this study was to investigate psychiatric disease and social aspects in young women with epilepsy before and during pregnancy.

Method: The study included self-reported data from 106,935 pregnancies.

Results: Seven hundred eleven women reported having epilepsy, and 45.

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Background: Mental health consequences related to divorce have been documented, but might be caused by concomitant factors such as conflicts and loss of parental contact (PC). We investigated these relationships and mental health among adolescents.

Methods: The study was based on data from four cross-sectional surveys carried out between 1997 and 2009 among tertiary school students in Førde, Norway.

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