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Abstract Background SPTBN1 encodes βII-spectrin, a cytoskeletal protein essential for neuronal structure and function. Pathogenic variants in this gene cause a neurodevelopmental disorder known as DDISBA (Developmental ...

Morphological phenotyping of genetically engineered or experimentally challenged mice is the first step in researching the causality of congenital malformations. Especially for spatially complex structures like the inner...

Neonatal seizures are most commonly attributed to hypoxic-ischaemic injury, metabolic abnormalities, or central nervous system infections; however, an increasing proportion of cases are recognised to have an underlying g...

Abstract Background Non-invasive prenatal testing (NIPT) is a genetic test to screen fetal chromosomal abnormalities in pregnancy. Public reliance on short-video platforms for health information in China is increasing, y...

Abstract Background Skeletal dysplasia encompasses a heterogeneous group of genetic disorders characterized by an abnormal development of bones, joints, and cartilage. Two Chianina half‐sibling calves from consanguineo...

Abstract Background Hemolytic uremic syndrome (HUS) is classically defined by the triad of microangiopathic hemolytic anemia, thrombocytopenia, and acute kidney injury (AKI) and is most often associated with renal thromb...

DNA ligase IV (LIG4) is essential for repairing breaks in double-stranded DNA via nonhomologous end-joining in developing lymphocytes and is particularly important for V(D)J recombination. First described in the early 20...

The routine semen evaluation assessing sperm concentration, motility and morphology, does not identify subtle defects in sperm chromatin architecture. Bulls appear to have stable chromatin, with low levels of DNA fragmen...

Abstract Hypohidrotic ectodermal dysplasia (HED), caused by mutations in genes such as EDAR, is a genetic disorder characterized by hypodontia, hypotrichosis, and hypohidrosis. Dental anomalies in HED patients lead to fu...

BackgroundNewborn screening for severe combined immunodeficiency (SCID) using T cell receptor excision circles (TRECs) enables early detection of disorders affecting T cell development. While low TRECs typically indicate...

Abstract Background Neuronal intranuclear inclusion disease (NIID) is an extremely rare, slowly progressive neurodegenerative disorder characterized by episodic neurological and psychiatric symptoms. Diagnosis is challen...

Abstract Background Human patients with Ehlers‐Danlos syndrome (EDS) are categorized into subtypes based on causative genetic variants and phenotypes. The classical form of EDS, primarily caused by variants in COL5A1 o...

Background ADAM metallopeptidase with thrombospondin type 1 motif 3 (ADAMTS3) is one of the causative genes for the Hennekam lymphangiectasia-lymphedema syndrome (HKLLS), an autosomal recessive genetic disorder. Here, we...

This integrative review synthesizes current knowledge on the physiological responses and adaptive mechanisms of amphibians and reptiles to multiple interacting environmental stressors, with particular emphasis on synergi...

Cartilage-hair hypoplasia is a rare autosomal recessive skeletal dysplasia. It is particularly prevalent in the Finnish and Amish populations but increasing reports have been documented worldwide. It is caused by pathoge...

BackgroundBehçet’s disease is a multisystem inflammatory disorder whose diagnosis can be challenging due to overlapping features with other inflammatory conditions and primary immunodeficiencies (1). In patients with ...

Post-traumatic stress disorder (PTSD) is a severe neuropsychiatric disorder characterised by re-experiencing, avoidance and hyperarousal. Memory abnormalities manifested as intrusive thoughts and prolonged distressful em...

Abstract Mosaic variegated aneuploidy (MVA), a rare human congenital disorder that causes microcephaly, is characterized by extensive abnormalities in chromosome number and results from mutations in genes involved in acc...

Cardiovascular disease and diabetic nephropahty account for much of the morbidity and mortality associated with diabetes mellitus. Genotypic abnormalities of the reninangiotensin system have been suggested as a risk fact...

Gitelman syndrome (GS) is a rare hereditary kidney disorder characterized by electrolyte abnormalities. However, its systemic manifestations, such as growth retardation, suggest broader metabolic disturbances. To investi...

Rosacea is a chronic inflammatory skin disorder primarily characterized by persistent facial erythema, episodic flushing, papules and pustules, as well as phymatous changes. Despite extensive research, the pathogenesis o...

Abstract Objective Describe the clinical course and diagnostic and genetic findings in a cat with X‐linked myotubular myopathy. Case Summary A 7‐month‐old male Maine coon was evaluated for progressively worsening g...

Abstract Objective To explore the utility of microarray technology in prenatal diagnosis of nasal bone agenesis or hypoplasia. Methods Between July 2018 to October 2023, several cases of abnormal nasal bone development w...

We analysed primary breast cancers by genomic DNA copy number arrays, DNA methylation, exome sequencing, messenger RNA arrays, microRNA sequencing and reverse-phase protein arrays. Our ability to integrate information ac...