1 citations
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November 2025 in “Clinical and Experimental Medicine” This review highlights the emerging role of long non-coding RNAs (lncRNAs) in dermatology, suggesting that lncRNAs significantly impact signaling pathways involved in normal skin functions and skin diseases, offering potential as biomarkers and therapeutic targets.
1 citations
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July 2023 in “Nature communications” This study found that deleting the Mof gene in mouse skin leads to severe defects in skin cell self-renewal, differentiation, and hair follicle growth, indicating that MOF is crucial for mitochondrial and ciliary gene expression and essential for skin development.
July 2026 in “Frontiers in Immunology” This review summarizes recent findings on the role of lactylation, a novel post-translational modification, in skin diseases, suggesting its potential as a therapeutic target by linking metabolism, epigenetic regulation, and inflammatory processes.
January 2024 in “Theranostics” This study found that HDAC6 plays a crucial role in regulating primordial follicle activation, with its overexpression delaying activation and preserving fertility by reducing NGF levels.
November 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that conditional deletion of Mof in mice resulted in severe defects in skin development, including compromised epidermal differentiation and hair growth, leading to perinatal lethality.
January 2022 in “Dermatology Review” This study found that patients with chronic kidney disease-associated pruritus had elevated serum levels of interleukin 31, suggesting a possible role of this cytokine in the condition.
April 2015 in “Andrology” This special issue contains abstracts from the ASA 40th Annual Meeting, providing an overview of various studies without reporting new primary results.
Chemicals and stem cells combined have advanced regenerative medicine with few safety concerns, focusing on improving techniques and treatment effectiveness.
2 citations
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July 2015 in “Case Reports in Dermatology” In this case study, DDS treatment for LABD was complicated by hemolytic anemia and alopecia, suggesting the need for careful monitoring of these potential side effects.
16 citations
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July 2021 in “American Journal of Medical Genetics Part A” This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
1 citations
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December 2022 in “Pediatric dermatology” This case report highlighted an instance of lichen spinulosus emerging as a new cutaneous sequela in a boy following toxic epidermal necrolysis, responding to treatment with ammonium lactate.
This study found that the transcription factor Lhx2 regulates Sonic Hedgehog signaling in mouse retinal progenitor cells, mainly by controlling the expression of co-receptors essential for effective pathway activation during early retinal neurogenesis.
49 citations
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January 2010 in “Plant and Cell Physiology” This study found that a phosphorus starvation-insensitive mutant of Arabidopsis thaliana shows altered root growth and auxin responses under low phosphate conditions compared to wild-type plants, suggesting a role for LPR1 in regulating these traits.
55 citations
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November 2018 in “American journal of human genetics” This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.
36 citations
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January 2019 in “Nature communications” This study found that Ldh activity in hair follicle stem cell-mediated squamous cell carcinoma is not necessary for tumorigenesis, as its modulation did not affect the cancer's development or characteristics.
23 citations
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February 2020 in “PLOS genetics” This study found that biallelic LSS mutations lead to congenital hypotrichosis and cataracts, with each tissue-specific loss of function observed in mouse models.
This study found that in early retinal neurogenesis in mice, the transcription factor Lhx2 regulates Sonic Hedgehog signaling by controlling expression of pathway genes like the co-receptors Gas1 and Cdon.
December 2024 in “Livers” This case report highlights a female patient with familial partial lipodystrophy who showed significant improvement in liver stiffness after starting leptin replacement therapy.
50 citations
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February 2004 in “Genomics” This study identified a missense mutation in the rat Desmoglein 4 gene, causing abnormal hair shaft development in lanceolate hair mutant rats by disrupting a critical calcium binding site.
24 citations
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November 2023 in “International Journal of Molecular Sciences” This review highlights that platelet-rich plasma and adipose-derived stem cell therapy may offer safe and promising improvements for managing symptoms of genital lichen sclerosus, with a potential synergistic benefit when combined.
9 citations
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October 2022 in “Journal of Molecular Neuroscience” This study reports a novel LSS gene mutation in an Egyptian family with alopecia intellectual disability syndrome 4, expanding the known clinical and genetic features of the condition.
April 2016 in “Journal of Investigative Dermatology” This study reported that the absence of Lsh in skin led to significant epidermal hyperplasia and altered gene expression, suggesting its crucial role in regulating epidermal proliferation, differentiation, and wound healing.
10 citations
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June 2018 in “Journal of visualized experiments” This study demonstrated that lactate dehydrogenase activity is notably high in quiescent hair follicle stem cells within mouse skin using a specific enzymatic activity assay.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” This study concludes that dietary L-serine supplementation shows promise as a long-term therapy for hereditary sensory and autonomic neuropathy type 1, reducing neurotoxic 1-deoxysphingolipid levels and improving symptoms in severe cases.
1 citations
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January 2024 in “Clinical Cosmetic and Investigational Dermatology” This case report discusses a 58-year-old female diagnosed with oral lichen sclerosus, an extremely rare form of the disorder, which improved following treatment with topical and intralesional corticosteroids, highlighting the importance of recognizing this rare condition in the oral mucosa.
8 citations
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November 2009 in “The Neurologist/The neurologist” This case report highlights a 21-year-old woman with seizures, mental retardation, spastic diplegia, and ichthyosis consistent with Sjogren-Larsson syndrome, and emphasizes the importance of differential diagnosis when additional symptoms are present.
6 citations
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May 2020 in “British Journal of Dermatology” This abstract discusses Lichen Sclerosus, a chronic skin condition affecting the genitals, highlighting its symptoms, complications, and impact on quality of life, but reports no new clinical findings.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
July 2025 in “Human Genomics” This source reports that a comprehensive review of LSS gene variant phenotypes enhances understanding of congenital hypotrichosis 14 and could guide more precise genetic counseling and future research into disease mechanisms and potential therapies.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that in a mouse model of Focal Dermal Hypoplasia, treatment with lithium carbonate improved skin disease symptoms compared to controls, though disease severity varied and posed interpretation challenges.