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Investigation of the role of X chromosome inactivation and androgen receptor CAG repeat polymorphisms in patients with recurrent pregnancy loss: a prospective case–control study
BackgroundPrevious research has revealed that skewed X chromosome inactivation (SXCI) and androgen receptor (AR) CAG polymorphisms are associated...
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Cross-species epigenetic regulation of nucleus accumbens KCNN3 transcripts by excessive ethanol drinking
The underlying genetic and epigenetic mechanisms driving functional adaptations in neuronal excitability and excessive alcohol intake are poorly...
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The role of androgen receptor CAG repeat polymorphism in androgen excess disorder and idiopathic hirsutism
PurposeThe study aimed to investigate whether repeat number in the androgen receptor (AR) gene has any contribution to phenotypes of the disease of...
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PGT-M for spinocerebellar ataxia type 1: development of a STR panel and a report of two clinical cases
PurposeTo present the developed preimplantation genetic testing (PGT) for spinocerebellar ataxia type 1 (SCA1) and the outcomes of IVF with PGT.
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Rediscovering tandem repeat variation in schizophrenia: challenges and opportunities
Tandem repeats (TRs) are prevalent throughout the genome, constituting at least 3% of the genome, and often highly polymorphic. The high mutation...
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Trinucleotide repeat expansion in the transcription factor 4 (TCF4) gene in Thai patients with Fuchs endothelial corneal dystrophy
PurposeTo evaluate the association of single nucleotide polymorphisms (SNPs) and the intronic expansion of a trinucleotide repeat (TNR) in the TCF4 ...
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Proteinopathies associated to repeat expansion disorders
The most common neurodegenerative disorders, such as Alzheimer’s or Parkinson’s diseases, are characterized by synaptic dysfunction, neuronal loss...
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Mechanisms underlying phenotypic variation in neurogenetic disorders
Neurological diseases associated with pathogenic variants in a specific gene, or even with a specific pathogenic variant, can show profound...
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Unlocking the mystery associated with infertility and prostate cancer: an update
Male-specific reproductive disorders and cancers have increased intensely in recent years, making them a significant public health problem. Prostate...
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Neurodegenerative diseases associated with non-coding CGG tandem repeat expansions
Non-coding CGG repeat expansions cause multiple neurodegenerative disorders, including fragile X-associated tremor/ataxia syndrome, neuronal...
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Random X chromosome inactivation in patients with Klinefelter syndrome
BackgroundX chromosome inactivation (XCI) is an indispensable process in the development of human female embryos. Reportedly, XCI occurs when a...
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Endemic parkinsonism: clusters, biology and clinical features
The term ‘endemic parkinsonism’ refers to diseases that manifest with a dominant parkinsonian syndrome, which can be typical or atypical, and are...
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Possible association of CAG repeat polymorphism in KCNN3 encoding the potassium channel SK3 with oxaliplatin-induced neurotoxicity
IntroductionData suggest a role of the potassium channel SK3 ( KCNN3 gene) in oxaliplatin-induced neurotoxicity (OIN). Length variations in the...
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Longer trinucleotide repeats of androgen receptor are associated with higher testosterone and low oxytocin levels in diabetic premature ejaculatory dysfunction patients
BackgroundDespite its worldwide high occurrence, the obscurity regarding the description, epidemiology and management of premature ejaculation...
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Human genetic basis of coronavirus disease 2019
Coronavirus disease 2019 (COVID-19) caused by a novel coronavirus, severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), has resulted in...
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Juvenile Huntington’s disease: two case reports and a review of the literature
BackgroundHuntington’s disease is a rare, autosomal dominant neurodegenerative disease characterized by motor, cognitive, and psychiatric symptoms....
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Delineating the role of nuclear receptors in colorectal cancer, a focused review
Colorectal cancer (CRC) stands as one of the most prevalent form of cancer globally, causing a significant number of deaths, surpassing 0.9 million...
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The French national protocol for Kennedy’s disease (SBMA): consensus diagnostic and management recommendations
BackgroundKennedy’s disease (KD), also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, X-linked recessive neuromuscular...
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Sex steroids and autoimmune rheumatic diseases: state of the art
In autoimmune rheumatic diseases, oestrogens can stimulate certain immune responses (including effects on B cells and innate immunity), but can also...
