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.
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.
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.
8 citations
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April 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified biallelic variants in the LSS gene as a possible genetic cause of palmoplantar keratoderma-congenital alopecia syndrome type 2, highlighting the role of cholesterol synthesis in skin cornification.
January 2026 in “Frontiers in Medicine” This study suggests that coexisting LSS and TSPEAR variants might contribute to a complex phenotype of congenital hypotrichosis and ectodermal abnormalities in a child, and highlights the need for cautious interpretation of genotype-phenotype links and the potential value of broader genetic testing.
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.
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.
September 2026 in “British Journal of Dermatology” This study identified 11 genes associated with non-syndromic hereditary hypotrichosis in a Chinese cohort and proposed a preliminary framework for phenotype-driven candidate-gene prioritization to aid clinical evaluation.
November 2024 in “JAAD Case Reports” In this study, researchers identified a rare form of hereditary hypotrichosis linked to mutations in the LSS gene, which affects cholesterol biosynthesis and is inherited in an autosomal recessive manner.
September 2024 in “Journal of the American Academy of Dermatology” Early intervention is important for limited systemic sclerosis patients due to higher pain and ulceration risks.
March 2017 in “Fundamental & Clinical Pharmacology” This case study reported an improvement in lower limb edema for a patient with type 2 diabetes mellitus after starting dulaglutide treatment, suggesting a potential role of the drug in sodium retention disorders.
April 2023 in “Acta Scientific Orthopaedics” This essay discusses hair loss due to head bone displacement and does not report new clinical results, building on the author's prior work regarding the natural process of growth-related changes.
December 2015 in “Vascular Pharmacology” Hair papilla cells are crucial for blood vessel development in hair follicles, affecting hair growth and loss.
1308 citations
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March 1998 in “Journal of bone and mineral research” This review discusses the molecular role of the vitamin D receptor in regulating various biological actions such as bone mineralization and reports no new clinical results, highlighting the complexity of vitamin D's function in multiple tissues.
139 citations
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December 1998 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a new type II cytokeratin, named K6hf, exclusively expressed in the companion layer of the human hair follicle, distinguishing it from other keratins and suggesting a unique biochemical role.
82 citations
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May 2009 in “Development” This study found that downregulation of EGF and KGF signaling is necessary for hair follicle initiation in placodes, revealing a new role for KGF in hair follicle formation in mice.
81 citations
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November 2012 in “Journal of the National Cancer Institute” This study found that FLCN deficiency in mice muscles led to increased mitochondrial biogenesis and a metabolic shift towards oxidative phosphorylation, with a similar advantage observed in FLCN-null kidney cancer cells.
80 citations
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April 2011 in “Plant physiology” This study suggests that the GPX-PDE1 and GPX-PDE2 genes in white lupin enhance root hair development and contribute to Pi limitation acclimation by facilitating glycerophosphodiester degradation.
25 citations
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July 2019 in “Experimental Dermatology” This review discusses the role of cholesterol homeostasis in hair follicle biology and its potential connections to various hair disorders, but it reports no new findings.
17 citations
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January 2006 in “Veterinary Dermatology” This study found that topical melatonin and vigorous brushing did not affect hair regrowth in clipped Siberian Huskies, although lumbosacral hairs grew significantly shorter than lateral thigh hairs.
17 citations
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August 2012 in “Journal of Medical Genetics” This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
14 citations
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October 2020 in “Journal of ethnopharmacology” This study found that both ethanol and aqueous extracts of Lepidium sativum seeds improved insulin signaling and reduced obesity-related metabolic changes in high-fat diet-fed rats, suggesting potential as a dietary supplement.
13 citations
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January 2021 in “Histochemistry and Cell Biology” In this study, human hair follicles showed varying expression of cholesterol transport proteins during the hair cycle, suggesting a potential role of cholesterol in hair growth and cycling.
5 citations
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January 2017 in “Elsevier eBooks” This review focuses on the roles of amino acids, peptides, and proteins in cosmetics, highlighting their importance in skin health and their potential for development in personal care products due to their unique properties and biocompatibility.
3 citations
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June 2017 in “Methods” This study used computational modeling to identify key genes and miRs involved in cardiac aging, finding a strong relationship supported by literature and some experimental validation in aged mouse hearts.
2 citations
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January 2018 in “International Journal of Biochemistry & Physiology” This study identified two new Wnt genes, EsWnt1 and EsWnt4, in red starfish, with their expression patterns suggesting a role in wound healing and regeneration.
1 citations
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December 2016 This computational study developed a regulatory model linking key genes and miRNAs to cardiac senescence, validated by connecting 94% of these elements to existing cardiac aging research.
This study investigated the mechanisms of Platycladi Cacumen in treating androgenetic alopecia, identifying potential key components and targets but found no specific targets or regulatory mechanisms.
September 2025 in “Ensaios USF” This study developed a solid shampoo formulation with conditioning properties, highlighting its feasibility and environmental benefits compared to conventional shampoos due to biodegradable packaging and no water in its composition, thus offering a sustainable alternative in the cosmetic industry.
March 2024 in “Research Square (Research Square)” This study found that a combined genotypic and phenotypic reanalysis increased molecular diagnostic accuracy from 9% to 26% in a cohort of unresolved monogenic diabetes cases, identifying five previously overlooked genetic defects.