10 citations
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November 2009 in “Pigment cell & melanoma research” This study by Pérez-Oliva et al. explored how Mahogunin Ring Finger-1 (MGRN1) affects melanocortin-1 receptor (MC1R) signaling, suggesting that MGRN1 competitively inhibits Gαs binding to MC1R, influencing pigment production.
October 2022 in “Amplla Editora eBooks” 7 citations
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August 2025 in “Journal of Nanobiotechnology” This review highlights the potential of microneedles and nanomedicine in advancing tissue regeneration, emphasizing their innovative, localized, and minimally invasive approaches as promising solutions to current challenges in treating chronic wounds and degenerative diseases.
August 2025 in “OPAL (Open@LaTrobe) (La Trobe University)” This study demonstrates that machine learning-assisted fabrication of PRP-incorporated microneedles effectively promotes hair regrowth in AGA mice, outperforming minoxidil and mitigating biosafety risks associated with synthetic materials.
August 2023 in “Dermatology reports” This case study of a 2-month-old boy with maple syrup urine disease highlights the dangers of restricting branched-chain amino acid intake, as it led to acrodermatitis dysmetabolica-like skin eruptions and hair loss, later resolved with careful dietary adjustments and monitoring.
15 citations
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November 2012 in “Archives of Ophthalmology” This description of dystrophy hypotrichosis associated with juvenile macular dystrophy provides an overview of this rare disorder characterized by short hair from birth and progressive loss of central vision but reports no new findings.
694 citations
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April 2000 in “Nature genetics” This study found that Msx2-deficient mice exhibit skull and bone formation defects similar to those seen in human MSX2-related conditions, highlighting the gene's importance in skeletal and organ development.
July 2026 in “Biochimica et Biophysica Acta (BBA) - Gene Regulatory Mechanisms”
May 2025 in “The Journal of Rheumatology” This case report describes a 32-year-old Filipino female with mixed connective tissue disease who sequentially developed distinct autoimmune disorders over seven years, highlighting the complexities in diagnosis and management of overlap syndromes.
18 citations
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June 2016 in “Clinical and Experimental Dermatology” This case study reports that an infant with maple syrup urine disease developed acrodermatitis dysmetabolica due to low isoleucine levels, and increasing the isoleucine dose improved the condition.
1 citations
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April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
12 citations
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January 1994 in “Dermatology” This study found that a patient with giant axonal degeneration had unique hair abnormalities such as trichorrhexis nodosa and altered S:N ratios, unlike her relatives but comparable to unrelated controls.
This study found that the NuMA protein's microtubule-binding domain is essential for proper spindle orientation and differentiation in keratinocytes, affecting skin and hair development in mice.
January 2025 in “HemaSphere” This review discusses the implications of renaming myelodysplastic syndromes as "myelodysplastic neoplasms" and argues that the "low-risk" label may misrepresent patient experiences and hinder research.
23 citations
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July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.
1 citations
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September 2007 in “Neuromuscular disorders” This study suggests that long-term treatment with valproate, acetylcarnitine, folic acid, and vitamin B12 may benefit children with SMA types II and III by improving muscle strength and function without significant adverse effects.
August 2018 in “Journal of Investigative Dermatology” This case report describes the first known instance of dermatomyositis-related panniculitis in the neck and mediastinal region, effectively treated with corticosteroids, dapsone, and colchicine.
This study found that fibroblasts from Emery-Dreifuss muscular dystrophy patients with certain genetic mutations overexpress markers of fibrosis, and gene correction techniques reduced fibrogenic molecule expression in cell models, suggesting potential therapeutic applications.
11 citations
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September 2021 in “American Journal of Medical Genetics Part A” This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.
June 2025 in “British Journal of Dermatology” 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.
November 2023 in “Materials Today Bio” In this study, researchers developed a novel temperature-sensitive biopolymer-based drug delivery system that enhanced the transdermal delivery of ISX9, a neurogenesis inducer, resulting in more effective hair follicle regrowth and signal pathway activation in vivo compared to traditional topical application.
This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.
10 citations
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May 2007 in “British Journal of Dermatology” This case report describes the first known instance of congenital follicular mucinosis in a newborn, diagnosed through histopathological examination of a scalp lesion.
December 2025 in “Meditsinskiy sovet = Medical Council” This case study highlights the importance of an integrated diagnostic and treatment approach for children with rare genetic disorders, as demonstrated in a 10-year-old girl with CNOT3 syndrome, characterized by symptoms like mental retardation, gastrointestinal issues, and unique facial features.
52 citations
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March 1979 in “Toxicology and Applied Pharmacology” Minoxidil can cause heart muscle damage in dogs.
76 citations
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June 2015 in “Journal of biomedical science” This study demonstrated that dominant mutations in mouse gasdermin A3 disrupt mitochondrial oxidative stress regulation, suggesting a gain-of-function effect on epidermal differentiation.
1 citations
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August 2021 in “Movement disorders clinical practice” This case report describes the first documented occurrence of hemi-Isaac's syndrome or acquired neuromyotonia affecting only one side of the body, with symptoms improving after immunomodulatory treatment.
49 citations
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July 1994 in “British journal of dermatology/British journal of dermatology, Supplement” This study observed that 13 out of 38 children with methylmalonic and propionic acidaemia exhibited specific cutaneous manifestations, suggesting these conditions may include skin symptoms more often than previously thought.
December 2023 in “Annales Pharmaceutiques Françaises” This study concluded that Trilayer Dissolving Microneedles show promise in enhancing Minoxidil delivery for treating alopecia areata by improving its bioavailability and reducing side effects.
April 2019 in “Journal of Investigative Dermatology” This study identifies a mechanism where dsRNA activates TLR3 to induce RA production, promoting hair follicle regeneration in mice and suggesting a potential role in human tissue regeneration.