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This study highlights the phenotypic variability in 5 patients with Woodhouse-Sakati syndrome carrying the c.436delC mutation, suggesting a broader range of clinical presentations than previously recognized.

In this study, researchers found that serum granulysin levels might serve as a novel marker for disease activity in acute alopecia areata, being significantly associated with broader bald skin areas, poorer prognosis, and co-existing allergic disorders.

This study demonstrated that in live rodents, actin filaments adjust their structure to facilitate membrane transfer between cellular compartments with different biophysical properties.

This study found that overexpression of an enzyme in transgenic mice led to distorted polyamine levels, resulting in permanent hair loss and female infertility.

This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.

This case report describes a 21-year-old woman whose catatonia led to the diagnosis of systemic lupus erythematosus, suggesting catatonia may be an underrecognized manifestation of neuropsychiatric lupus.

This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.

This review assesses existing knowledge about the 17q21.31 inversion polymorphism, highlighting its genetic structure differences across ancestries, associations with various diseases, and implications for precision medicine and drug discovery.

This article presents a case of delayed diagnosis of Kearns-Sayre syndrome in a 38-year-old man and reviews clinical and laboratory findings associated with the disorder, reporting no new results.

This study found that human adult dermal fibroblasts can express markers typically associated with neural cells, suggesting potential pitfalls in relying on immunophenotyping alone for cell identity verification.

Increasing TSPO in the brain may help improve memory problems.

This case report describes a 32-month-old girl with a newly identified pediatric disorder linked to a de novo mutation in the ODC1 gene, mirroring symptoms seen in a transgenic mouse model.

In this case study, nail changes and skin lesions helped diagnose a 60-year-old man with advanced cardiac amyloidosis, highlighting the importance of considering amyloidosis in differential diagnoses for similar nail abnormalities and assessing for systemic involvement.

This case report describes a female SLE patient with CNS involvement who developed an acute West Nile virus infection, highlighting the diagnostic challenges in differentiating infection from a disease flare in immunosuppressed individuals.

In this study, transplantation of hair follicle stem cells and nerve growth factor-modified stem cells significantly reduced amyloid deposition and tau hyperphosphorylation in an Alzheimer's disease rat model, suggesting potential as a treatment option.

The study found that while a clinical protocol showed high specificity in detecting scrapie in goats, its low sensitivity suggests many cases might be missed if diagnosis is only based on clinical signs.

This study suggests that skin tumor cells in tuberous sclerosis complex may promote hamartoma morphogenesis by expressing and releasing higher levels of cathepsin B.

In this study, researchers generated a mouse mutation called scraggly, related to hair and skin defects, and mapped it to a genetic location on mouse Chromosome 19 distinct from similar mutations.

This study found that quercitrin, a natural compound, enhances Wnt/β-catenin signaling and may help mitigate synapse loss and memory impairment in Alzheimer's models.

This study observed that inflammatory AIGA is associated with sweat duct inflammation and sweat coil atrophy, while non-inflammatory AIGA involves only sweat coil atrophy, suggesting distinct pathological features between the two.

This case report describes the first confirmed instance of trichodysplasia spinulosa in a child with Down syndrome and leukemia, linking it to the TS-associated polyomavirus.

This research suggests that defects in keratinocyte differentiation due to putrescine accumulation in SSAT transgenic mice lead to skin changes and hair loss, and reducing putrescine can promote hair regrowth.

This study found that enzymatic conversion of Arg-51 in S100A3 protein to citrulline promotes homotetramer assembly, potentially increasing Ca²⁺ binding required for hair cuticular barrier formation.

This study reports on the biochemical characteristics of S100A3 protein in human hair cuticle, notably finding its N-terminal methionine is acetylated and has a slightly lower isoelectric point compared to the recombinant version.

This case report describes a 90-year-old man diagnosed with wild-type transthyretin cardiac amyloidosis, confirmed by pyrophosphate cardiac scintigraphy and exclusion of gene mutations.

In this study, daily treatment with angiotensin (1-7) significantly reduced disease severity in a mouse model of Systemic Lupus Erythematosus, suggesting potential for Mas agonists in future therapies.

This study found a genetic electrophoretic variant in high-sulfur proteins from human hair, which was more prevalent in the Japanese samples compared to Caucasian samples, suggesting an autosomal inheritance pattern.

This study reported that anti-Ku-positive patients exhibited heterogeneous muscular features, primarily characterized by necrotizing fibers and vacuolar changes, and suggested that autophagy could be a significant mechanism involved in the pathogenesis.