295 citations
,
September 2006 in “Cell Cycle” This review discusses the role of the TOR pathway in aging and suggests that rapamycin could potentially target age-related diseases, but reports no new clinical results.
11 citations
,
January 2018 in “Jaypee's international journal of clinical pediatric dentistry” This report describes the clinical presentation of Papillon-Lefèvre syndrome in two brothers and reviews the related literature, without providing new clinical outcomes.
115 citations
,
December 2019 in “The Plant Journal” This study found that nitrate, rather than ammonium, significantly enhances phosphate starvation responses in plants through a regulatory cascade involving NIGT1, SPX, and PHR1 proteins.
93 citations
,
October 2006 in “The International Journal of Biochemistry & Cell Biology” This review discusses melanocyte biology and its genetic and molecular basis, highlighting its relevance in understanding diseases like vitiligo and albinism, and reports no new findings.
62 citations
,
October 2018 in “Journal of pathology” This review discusses the mechanisms of keratin 17 regulation in diseases such as psoriasis and cancers but presents no new experimental findings, calling for further exploration of anti-K17 therapies.
37 citations
,
August 2024 in “Current Issues in Molecular Biology” This review summarizes recent findings on keratins 6, 16, and 17, highlighting their role in keratinocyte behavior and nuclear functions, and discusses their potential as biomarkers for various skin pathologies, including damage, inflammation, and cancer, rather than in healthy skin.
3 citations
,
October 2024 in “All Life” In this review, the researchers identify and discuss promising molecular and genetic targets for lung cancer therapy, suggesting that advancements in understanding these targets could lead to new drug developments and more effective treatments.
1 citations
,
December 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study investigated pangolin skin genetics, finding that while sweat gland-related genes are not inactivated, several genes related to sebaceous gland function are, which highlights complex evolutionary adaptations in mammalian skin.
1 citations
,
July 2022 in “Вопросы современной педиатрии” This review discusses progeria, focusing on its pathogenesis, major symptoms, and management strategies, and includes a clinical case of a girl with the disease confirmed by genetic testing; it reports no new clinical results.
March 2026 in “Preprints.org” This study investigated the secretome of adipose mesenchymal stem cells and fibroblasts used in skin care products, finding 16 therapeutic pathways involving numerous signaling mechanisms, which may offer skin benefits through anti-inflammatory and regenerative effects.
August 2018 in “Illinois Digital Environment for Access to Learning and Scholarship (University of Illinois at Urbana-Champaign)” This research observed that chronological age, rather than hearing loss, primarily affects the auditory cortex in aging, and found that brain aging in PolG mice mirrored that of wild-type counterparts, suggesting differential tissue sensitivity to mitochondrial dysfunction.
November 2005 in “Physiology” This article highlights advances in various physiological studies, including vitamin E's potential to improve aging-related outcomes in mice, but does not present new experimental results.
31 citations
,
May 2015 in “Stem Cell Reports” This research discusses a novel imaging approach in live mice to study stem cell and niche interactions in tissue homeostasis and reports no new results.
29 citations
,
February 2010 in “The Journal of Steroid Biochemistry and Molecular Biology” In this study, researchers observed that the absence of a functional vitamin D receptor in mice leads to impaired hair follicle regeneration due to defects in keratinocyte stem cells, resulting in alopecia.
October 2025 in “Proceedings of the National Academy of Sciences” This study identifies the PI4P-RHD4 module as a key regulator of GET pathway receptor dynamics in Arabidopsis, affecting TA protein insertion and root hair growth.
29 citations
,
January 2021 in “Translational Psychiatry” This study found that certain gene sets, including those involved in ligand-gated ion channel signaling and cell adhesion, are associated with Tourette syndrome, suggesting a potential neurobiological basis for the disorder.
23 citations
,
June 2010 in “Journal of Investigative Dermatology” This study found that the hair interior defect in AKR/J mice is linked to a mutation in the Soat1 gene, which disrupts SOAT1 protein expression and affects lipid metabolism critical for normal hair formation.
August 2016 in “Journal of Investigative Dermatology” This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.
3 citations
,
February 2020 in “The journal of gene medicine” This study found a recurrent nonsense mutation in the HR gene linked to atrichia with papular lesions in two Kashmiri families, suggesting whole exome sequencing as an efficient method for diagnosis and genetic counseling.
74 citations
,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.
30 citations
,
January 2021 in “Journal of Clinical Immunology” This study describes various clinical phenotypes associated with FOXN1 mutations, finding that affected individuals may develop different severities of immunodeficiency based on their genetic mutations.
28 citations
,
February 2010 in “British journal of dermatology/British journal of dermatology, Supplement” This article reviews phenotypic variability linked to WNT10A nonsense mutations and does not present new research findings.
1 citations
,
December 2020 in “Journal of Chemical and Petroleum Engineering” The researchers in this experimental study developed a thermodynamic model using the Peng-Robinson equation of state to optimize gas antisolvent system conditions for controlling finasteride particle size, aiming to reduce experimental trials and precisely identify precipitation pressures across different temperatures.
10 citations
,
January 2010 in “Veterinary pathology” This study found that a newly identified mutation in the hairless gene in mice led to decreased Hr mRNA levels and changes in gene expression related to hair follicle development.
3 citations
,
August 2014 in “Journal of The American Academy of Dermatology” This article discusses the role of filaggrin gene mutations in understanding atopic dermatitis and their link to allergic sensitization but does not report new clinical results.
17 citations
,
June 2017 in “Gene” This is the first report of the FOXN1 p.R255X mutation from India, demonstrating the global spread of this genetic mutation previously found only in an Italian community.
10 citations
,
November 2017 in “Journal of Investigative Dermatology” In this study, researchers identified a novel homozygous variant in the FAM83G gene responsible for autosomal recessively inherited palmoplantar keratoderma with curly hair in a consanguineous Pakistani family, suggesting FAM83G plays a crucial role in skin and hair homeostasis.
April 2017 in “Journal of Investigative Dermatology” This study suggests that mutation-targeted siRNA therapy could potentially treat keratitis-ichthyosis-deafness syndrome by selectively reducing harmful GJB2 mutant gene expression in patient-derived keratinocytes.
197 citations
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June 2009 in “American journal of human genetics” This study found that previously undescribed WNT10A mutations are a prominent cause of various forms of ectodermal dysplasia, including OODD and Schöpf-Schulz-Passarge syndrome, with gender-specific phenotypic effects noted.
73 citations
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June 2010 in “PLoS Genetics” This study identified that a deficiency in the palmitoyl transferase enzyme, due to a mutation in the Zdhhc13 gene, led to severe physiological abnormalities in mice, including skin, bone, and systemic amyloid issues.