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This review of DAVID syndrome cases found that ACTH deficiency often preceded by sinus infections or alopecia is linked to specific NFKB2 gene mutations, highlighting the importance of early diagnosis to prevent complications.

This study found that the cytoplasmic dynein component Dynlt3 is essential for effective melanosome transport and transfer in mouse melanocytes, linking melanosome positioning and acidity to the Wnt/β-catenin signaling pathway.

In this study, it was observed that NIPAL4 mutations linked to autosomal recessive congenital ichthyosis lead to abnormal skin barrier function due to cytotoxic effects disrupting lipid structure and organization, which topical treatments only partially ameliorated.

This study illustrates the severe neonatal clinical presentation of Netherton syndrome, which can be fatal despite intensive care, highlighting a specific homozygous mutation (c.1431-12G > A) associated with lethal cases.

In this study, researchers identified two novel peptidylarginine deiminases from treated rat keratinocytes, both showing enzyme activity with PAD‐R11 reflecting a characteristic of epidermal enzymes.

In this report, researchers describe a 13-month-old with neurodevelopmental disorder NEDESBA, confirming a TRAPPC4 gene mutation as the cause after excluding biotinidase deficiency, highlighting the importance of molecular testing for accurate diagnosis in overlapping metabolic and genetic conditions.

In this study, researchers reported that dermoscopic examination of eyebrow hairs can help in the early diagnosis of Netherton syndrome in children by detecting trichorrhexis invaginata, facilitating prompt counseling and care while awaiting genetic test results.

This study analyzed blood samples from individuals with alopecia areata and found that NKG2D+ immune cells, particularly memory-like NK cells, may better correlate with disease activity compared to CD8+ cells, though significant variability among individuals complicates these findings.

This study found that overexpression of neurotrophin 4 in mouse skin increased hair follicle and Meissner corpuscle innervation without altering sensory neuron numbers, differing from brain-derived neurotrophic factor by not affecting Merkel cell numbers.

This study suggests that the DORN1 receptor may play a role in eATP-induced changes in stomatal aperture in Arabidopsis thaliana, but not in the eADP signaling pathway.

In this animal study, the researchers found that DPP4 plays a crucial role in scar formation and wound-induced hair follicle neogenesis in mice, impacting regenerative repair.

This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.

This report details a case of severe recurrent bacterial vaginosis in a woman with Netherton's syndrome.

In this study, the deletion of NIPP1 in keratinocytes led to chronic skin inflammation and epidermal changes in mice, with early cell-cycle arrest and premature senescence observed, potentially contributing to reduced mutagen sensitivity.

This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.

This article reports a case of Netherton's syndrome that responded to 12% ammonium lactate lotion, suggesting potential treatment benefits for skin and allergic symptoms in this rare condition.

This case report identifies a novel nonsense mutation in the CDH3 gene associated with hypotrichosis and juvenile macular dystrophy.

This article reviews phenotypic variability linked to WNT10A nonsense mutations and does not present new research findings.

This research observed that the skeletal abnormalities in Noggin null mice varied based on genetic background, and identified haploinsufficiency leading to joint fusions, similar to human conditions associated with NOGGIN deficiency.

In this study, researchers found that the naked (N) gene in mice indirectly affects the synthesis of structural proteins in mouse hair, resulting in reduced high tyrosine protein content and unusual amino acid compositions.

This case report describes a middle-aged man with niacinamide-induced poikilodermatous flushing observed on the neck, established through clinical and dermatoscopic evaluation.

In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.

This review discusses the structure, expression, regulation, and potential roles of NcoA4 in cancer and other pathologies, reporting no new experimental findings.

A new test helps find drugs to treat head and neck cancer by targeting c-Rel.

This study described an Appenzeller Mountain Dog with clinical signs of an NSDHL defect, discovering a large heterozygous de novo deletion spanning the entire NSDHL gene through whole genome sequencing.

This study found that deleting Ube2n in adult mouse skin leads to inflammation and other skin changes, and identifies IRAK1/4 as potential treatment targets for inflammatory skin disorders.

This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.

This case series highlighted three pediatric patients with congenital nail anomalies, revealing underlying developmental or genetic issues such as symbrachydactyly and potential Adams–Oliver syndrome, underscoring the critical role of dermatologists in early detection and diagnosis of these conditions.

This study found that the BMP antagonist noggin induces hair growth in postnatal skin by neutralizing BMP4's inhibitory activity, potentially mediated by changes in Shh expression.