May 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study introduced rPanglaoDB, an R package that facilitates the integration of public scRNA-seq datasets to effectively characterize rare cell types, exemplified by generating the first unbiased transcriptome profile of fibrocytes.
8 citations
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June 2012 in “PloS one” This study found that the Plcd3(mNab) mutation in mice worsens the alopecia caused by Plcd1 loss, suggesting synergistic effects between Plcd1 and Plcd3 on hair follicle health.
115 citations
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March 2019 in “Nature Communications” This study identified significant genetic associations with frontal fibrosing alopecia at four genomic loci, suggesting it is a genetically predisposed immuno-inflammatory disorder influenced by the HLA-B*07: 02 allele.
October 2023 in “Dermatology practical & conceptual” In this case report, folliculitis decalvans with frontal fibrosing alopecia was observed in a patient with a dark phototype, highlighting the phenotypic spectrum of folliculitis decalvans and lichen planopilaris.
March 2026 in “Anais Brasileiros de Dermatologia” Lichen planopilaris and frontal fibrosing alopecia are likely distinct diseases with different tissue involvement.
August 2025 in “BMC Pharmacology and Toxicology” The LTF gene may help predict and manage nonspecific orbital inflammation.
April 2022 in “Actas Dermo-Sifiliográficas” This article discusses the case of a 59-year-old woman with a history of progressive facial hyperpigmentation and explores potential connections between her condition and her family history, but reports no clinical findings.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, researchers identified novel LMNA mutations in patients with atypical progeroid syndrome, revealing clinical features distinct from other similar disorders, but unrelated to mutant prelamin A accumulation.
86 citations
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July 2002 in “Clinical and Experimental Dermatology” This review discusses female pattern hair loss, emphasizing its complex causes and the limited treatment options available, and reports no new clinical results.
4 citations
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September 2011 in “Journal of the American Academy of Dermatology” This case report describes a 46-year-old man who developed folliculotropic mycosis fungoides, a form of post-transplant lymphoproliferative disorder, following renal transplantation.
24 citations
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December 2018 in “Inflammation and Regeneration” This review discusses the roles of various PLA2 enzymes in skin health and disease, highlighting potential pathways for future diagnosis and therapy, but it reports no new clinical results.
7 citations
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April 2020 in “JIMD Reports” In this follow-up of three siblings with ATP6AP1 deficiency, the researchers observed progression to total hearing loss, hair loss, and proteinuria.
11 citations
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December 2013 in “Clinical and experimental dermatology” This study reports a case of a child with congenital skin fragility, alopecia, and cardiomyopathy due to compound heterozygous mutations in the DSP gene causing desmoplakin deficiency.
June 2024 in “Archives of Dermatological Research” In this study, significant upregulation of the genes SFRP2 and PTGDS was found in bald hair follicles of female pattern hair loss patients compared to non-bald follicles, suggesting these genes may be biomarkers and play a role in hair loss for this condition.
10 citations
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July 2019 in “Advances in Wound Care” This study suggests that Flightless I may inhibit the activation of epidermal stem cells during wound repair by disrupting Wnt/β-catenin signaling, potentially delaying wound reepithelialization.
2 citations
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February 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers found that correcting the HGPS mutation with Adenine base editing partially rescued accelerated skin cell differentiation and reduced cell death in patient-derived stem cells.
2 citations
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December 2024 in “Microscopy Research and Technique” This study introduced a novel microscopy system using an Er3 + −doped femtosecond fiber laser, achieving detailed imaging of biological structures in plant and skin samples with improved spatial resolution for various applications, including in vivo imaging.
24 citations
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July 2017 in “Structure” In this study, researchers found that ligand homodimerization controls the receptor binding specificity of the FGF9 subfamily, preventing off-target activation of FGFR "b" isoforms.
12 citations
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June 2020 in “Frontiers in Cell and Developmental Biology” This study found that the PP2A-B55α regulatory subunit is crucial for ectodermal development in mice, with knockout embryos displaying severe neural and epidermal defects and failing to survive to birth.
17 citations
,
October 2006 in “Molecular and Cellular Endocrinology” This study found that the L457(3.43)R mutation in the human luteinizing hormone receptor increases phosphodiesterase activity, reducing hormonal response despite elevated basal cAMP levels.
11 citations
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October 2014 in “Gene” In this study, researchers characterized the FGF5 gene in Chinese Merino sheep, identified a new mRNA splicing variant, FGF5S, and noted its restricted expression in the brain, spleen, and skin.
July 2024 in “Journal of Investigative Dermatology” The Fas/FasL pathway may play a role in alopecia areata.
5 citations
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July 2014 in “Acta Crystallographica Section D-biological Crystallography” This study reports that mutations in human L-PGDS affect the entrance and exit of ligands in its binding cavity, suggesting these residues play a role in ligand interaction processes.
November 2022 in “Journal of Investigative Dermatology” In this study, analysis of over 800 Iranian patients with epidermolysis bullosa identified 15 with pathogenic PLEC variants, highlighting a correlation between variant locations and phenotypic manifestations of plectinopathies.
39 citations
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October 2012 in “Familial cancer” This review covers the molecular basis of Birt–Hogg–Dubé syndrome and its implications for potential therapeutic targets, but it does not report new experimental results.
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.
45 citations
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July 2009 in “Journal of human genetics” This study found that an SNP in the FGFR2 gene, rs4752566, was significantly associated with hair thickness in Asian populations, suggesting an effect on hair morphology through altered FGFR2 expression levels.
1 citations
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July 2024 in “Journal of lasers in medical sciences” This case study reports that treating a female patient with facial partial unilateral lentiginosis using a 532-nm Nd:YAG fractional picosecond laser resulted in significant improvement in pigmentation without notable side effects, indicating it may be an effective and well-tolerated treatment option.
2 citations
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August 2021 in “Animal Cells and Systems” This study suggests that egfl6 expression in the pharyngeal pouches is not essential for craniofacial development in zebrafish.
April 2021 in “BMJ Case Reports” This case report discusses a rare instance of pseudolymphomatous folliculitis in a 19-year-old man, highlighting the challenge in diagnosing PLF due to its low clinical suspicion index and variable initial clinical diagnoses.