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A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.

This study identified a severe MBTPS2 gene mutation in a Japanese patient with IFAP syndrome, suggesting other factors may influence the varied clinical severity of the condition.

Oral JAK inhibitors are safe for alopecia areata, but baricitinib may cause more acne and infections.

This study evaluates the efficacy and safety of a higher dose (100-mg) of ritlecitinib for treating severe alopecia areata, comparing it to external and synthetic placebo control groups.

This study reports that ritlecitinib, when used for up to 24 months in patients aged 12 and older with alopecia areata, has an acceptable safety profile, with a similar proportion of adverse events in both ritlecitinib and placebo groups in the placebo-controlled cohort.

This study reports that despite rescuing neurulation and skin barrier defects, Grhl3 gene overexpression in mice leads to hearing impairment, hair loss, and other developmental abnormalities, highlighting low tolerance for Grhl3 dysregulation.

This study reported that despite treatment, patients with severe thallium poisoning experienced lasting visual impairment and partial recovery of polyneuropathy over two years, with hair loss fully reversing.

CaBP1 and 2 are important for maintaining the activity of calcium channels necessary for hearing in inner ear cells.

This study found that distinct low-threshold mechanoreceptors innervate different hair follicle types in mice, suggesting that these follicles serve as unique mechanosensory structures in touch perception.

In this study, researchers investigated age-related hearing loss in advanced-age CBA/CaJ mice and found combined cochlear damage from chronic sound exposure and metabolic changes linked to oxidative stress, which may require addressing both etiologies for prevention and treatment.

This study found that Ritlecitinib significantly reduced hair loss in patients with alopecia areata by lowering SALT scores at weeks 12 and 24 compared to placebo, with acceptable safety but increased minor side effects like headaches and acne.

This review examines the genetic factors influencing coat color in horses and donkeys, highlighting key genes like MC1R, TYR, MITF, ASIP, and KIT, and discusses implications for selective breeding and the relationship between coat color and specific equine diseases.

This review analyzes the mechanism and evidence supporting the approved use of ritlecitinib, a JAK3/TEC kinase inhibitor, for treating severe alopecia areata in patients aged 12 and older, highlighting its role in the changing therapeutic landscape of this immune-mediated disease.

This study is the first to identify a de novo heterozygous frameshift insertion variant in the ARID1B gene as a cause of Coffin-Siris syndrome with an association to excessive early-onset high myopia.

This case report describes an 18-month-old male with ichthyosis follicularis alopecia photophobia syndrome who experienced transient improvement in skin symptoms after oral isotretinoin treatment.

Lack of zinc can cause hearing loss by damaging important parts of inner ear cells in mice.

This study found that knocking out the Hars2 gene in mouse cochlear hair cells led to mitochondrial dysfunction and ROS stress, resulting in progressive hearing loss and differential effects on inner and outer hair cells.

In this study, researchers examined androgen receptor activity in the adult mouse brain and found specific expression in key brain areas, which could inform understanding of cognitive side effects in humans undergoing androgen deprivation therapy for prostate cancer.

This study found that mesenchymal stem cell-derived exosomes reduced hearing and hair cell loss caused by neomycin in experimental models by modulating autophagy, which promoted cell survival and lowered oxidative stress and apoptosis, indicating potential for deafness treatment.

This study found that metformin did not prevent gentamicin-induced hearing loss and even worsened auditory threshold shifts and caused adverse effects at higher doses in guinea pigs.

In this study, researchers found that 4-Octyl itaconate (4-OI) inhibited cisplatin-induced ferroptosis and protected auditory cells by activating the NRF2/HO-1 signaling pathway, suggesting a potential therapeutic approach for reducing hearing loss associated with cisplatin treatment.

This article discusses a case of Vogt-Koyanagi-Harada disease, detailing symptoms, diagnostic features, and treatment with corticosteroids, but it reports no new clinical findings.

This study found that hucMSC-EXOs delivered via intratympanic injection effectively target vestibular sensory tissues, significantly reducing gentamicin-induced balance issues and high-frequency hearing loss, with some measured outcomes surpassing those achieved with dexamethasone.

This review explores the mechanisms of hair cell death due to factors like noise, ototoxic drugs, and aging and reports no conclusive clinical results; ongoing research may eventually enable preventive treatments for hearing loss.

This literature review suggests that hair cell loss in hearing loss is often secondary to preceding morphological and functional defects in hair cells, indicating that interventions should focus on hearing preservation before significant hair cell loss occurs.

This study found that delivering math1 via an adenovector led to vestibular hair cell regeneration and improved balance function in ototoxin-treated adult mice.

This review assesses the benefits and limitations of various supramolecular hydrogels, including polymeric and peptide-based types, for wound healing, but reports no new clinical results.

This study identified a new genetic locus, ahl4, on distal Chromosome 10 that contributes to the early-onset, severe hearing loss in A/J mice compared to B6 mice.

In this study, UCMSC exosomes showed protective effects against cisplatin-induced hearing loss in mice by improving hearing and promoting cochlear tissue repair.

This review discusses genetic mutations associated with Hutchinson-Gilford progeria syndrome and reports no clinical results; the authors emphasize the importance of cardiovascular monitoring in management.