260 citations
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July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
5 citations
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January 2018 in “Indian Dermatology Online Journal” This case report describes a strong dermoscopic and histopathological correlation in lichen nitidus, helping differentiate it from other similar conditions.
14 citations
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March 2018 in “The American journal of case reports” 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.
73 citations
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April 2013 in “Stem cells” This study found that LGR5 is uniquely expressed in human corneal endothelial cells and maintains endothelial cell phenotypes while inhibiting mesenchymal transformation through the Wnt pathway.
17 citations
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January 2014 in “Journal of Clinical and Diagnostic Research” This study found that patients with oral lichen planus and oral lichenoid reactions have higher levels of serum cholesterol and LDL-C than healthy individuals, suggesting a potential elevated risk for cardiovascular disease.
1 citations
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September 2013 in “The Journal of Dermatology” An 8-year-old girl developed a rare skin condition in a linear pattern on one side of her body after a lung infection, which improved with treatment.
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
April 2023 in “Journal of Investigative Dermatology” In this study, a mouse model of scarring alopecia demonstrated significantly reduced CD200R expression in affected skin, which may contribute to immune attacks on hair follicles.
June 2022 in “Journal of the Liaquat University of Medical and Health Sciences” This study investigated the relationship between lichen planus and dyslipidemia but did not report any clinical findings.
1 citations
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August 2022 in “Biomedicines” This review assesses the potential of dutasteride as a promising treatment for ALS due to its reported neuroprotective, antioxidant, and anti-inflammatory effects, but emphasizes that clinical studies are needed for confirmation.
35 citations
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August 2010 in “The American journal of pathology” This study reports that hypomorphic alleles of the Ass1 gene in mice resemble human CTLN1, providing a potential model for preclinical studies and indicating that standard treatments for CTLN1 can rescue phenotypes.
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.
March 2025 in “Journal of Investigative Dermatology” 20 citations
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February 2010 in “Journal of Investigative Dermatology” Slug (Snai2) helps regulate hair growth timing in mice.
April 2024 in “African Journal of Biological Sciences” In this case report, a 38-year-old woman with Degos disease and non-scarring alopecia experienced significant hair regrowth with the current treatment protocol, highlighting its potential effectiveness in such complex conditions.
December 2018 in “Zenodo (CERN European Organization for Nuclear Research)” This review of low-level laser therapy for patterned hair loss found that red-spectrum light may be effective for hair growth, but larger case-controlled studies are needed to further support this conclusion.
10 citations
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December 2021 in “Frontiers in Cell and Developmental Biology” This study suggests that BBS7 is crucial for maintaining Sonic hedgehog signaling activity, which is essential for periodontal ligament homeostasis under occlusal hypofunction conditions.
February 2026 in “International Journal of Molecular Sciences” In this study, Lrig1-positive stem cells in mouse hair follicles were found to be essential for sebaceous gland formation and maintenance, with their depletion causing a temporary loss of these glands and changes in cellular differentiation.
This case report describes how unique endoscopic findings led to the diagnosis of Satoyoshi syndrome coexisting with systemic lupus erythematosus and gastric adenoma, expanding the endoscopic understanding of the syndrome.
24 citations
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September 2005 in “Journal of Cellular Biochemistry” This study found that all-trans and 9-cis retinoic acids increase steroid sulfatase activity in HL60 cells through mechanisms involving RARα/RXR heterodimers and multiple signaling pathways.
2 citations
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April 2018 in “International Journal of Research in Dermatology” In this study, lichen striatus was the most common linear dermatosis observed, with most lesions occurring along Blaschko’s lines, and histopathological evaluation often revealed different underlying conditions.
44 citations
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August 2010 in “Lupus” This article reviews the characteristics and classification criteria of cutaneous lupus erythematosus and reports no new clinical findings.
21 citations
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January 2006 in “Hormone Research in Paediatrics” In this case study, a girl with hereditary vitamin D resistant rickets had a novel mutation in the VDR gene that affected hair cycling without causing total alopecia, suggesting ligand-independent VDR function in hair cycling.
11 citations
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January 2020 in “Skin appendage disorders” This study reviewed clinical trials and found that low-level laser therapy significantly increased hair diameter or density in both men and women with pattern hair loss compared to a sham device, though the involvement of industry relationships in some studies suggests cautious interpretation.
4 citations
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January 2011 in “European journal of dermatology/EJD. European journal of dermatology” This article provides an overview of lipedematous scalp, a rare condition characterized by a thickened scalp without hair loss, and emphasizes the need for further research due to limited case reports.
29 citations
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January 2010 in “Methods in Enzymology” This review discusses five genetic fate mapping methods used to study cell behaviors during development and regeneration, detailing the necessary tools and considerations without reporting new experimental results.
July 2013 in “University of Southern California Digital Library” In this study, researchers identified slow cycling label retaining cells in nail and sweat gland appendages, showing stem cell characteristics similar to hair follicles but with distinct features.
July 2024 in “Journal of Investigative Dermatology” Patients with cutaneous lupus erythematosus have a higher risk of skin cancer and other cancers.
November 2022 in “Journal of Investigative Dermatology” This study identified 15 Iranian patients with PLEC variants linked to various plectinopathies and highlighted a novel association between a homozygous nonsense variant in PLEC and a rare combination of disorders including EB pruriginosa, muscular dystrophy, and congenital myasthenic syndrome.
53 citations
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June 2012 in “Annales d'Endocrinologie” This review discusses the range and causes of adipose tissue diseases, emphasizing genetic and acquired forms of lipodystrophy, but it reports no new clinical results.