11 citations
,
October 2002 in “Genetics” This study mapped a spontaneous mouse hair mutation, "hague," to keratin genes on chromosome 15 but found no gene mutations in hague mice.
10 citations
,
October 2018 in “Journal of molecular and cellular cardiology/Journal of Molecular and Cellular Cardiology” This study identified NM_026333 as a potential anti-aging gene that, when induced, may alleviate proton-induced aging symptoms in CF6-overexpressing and high salt-fed mice.
44 citations
,
May 2008 in “Plant journal” This study found that D'orenone blocks root hair growth by increasing PIN2 protein abundance, leading to reduced auxin concentration, but external auxin can reverse these effects.
February 2025 in “Intisari Sains Medis” This article explores the potential mechanisms by which polydeoxyribonucleotide (PDRN) could improve skin quality, slow aging, and enhance skin regeneration, but reports no new clinical findings.
130 citations
,
January 2000 in “Nature biotechnology” 19 citations
,
February 2001 in “Journal of paediatrics and child health” This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.
2 citations
,
August 2019 in “International Journal of Applied Pharmaceutics” This study explored the use of SOD-loaded niosomes as carriers to enhance the delivery of superoxide dismutase into hair follicles on guinea pig skin, finding that niosomes improved SOD penetration and preservation compared to free SOD, suggesting their potential as effective delivery vehicles.
1 citations
,
January 2011 in “ScholarlyCommons (University of Pennsylvania)” In this study, researchers investigating the Drosophila testis niche system reported that Notch signaling is crucial for niche cell specification, with early gonadogenesis showing signals coming from outside the gonad to direct cell fate.
December 2024 in “European journal of medical research” This study suggests that the NCSTN knockout mouse could serve as an HS animal model, with tamoxifen potentially used for gene deletion in mice.
January 2022 in “Clinical Cases in Dermatology” This case report describes a middle-aged man with niacinamide-induced poikilodermatous flushing observed on the neck, established through clinical and dermatoscopic evaluation.
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.
June 2025 in “Formosa Journal of Sustainable Research” In this study, the NADES extract of mangkokan leaves (Polyscias scutellaria) demonstrated antibacterial activity against Escherichia coli and Staphylococcus aureus, with a total flavonoid content measured at 4.944 mgEQ/gSimplisia using the disc diffusion method.
10 citations
,
January 2012 in “Lupus” This case report is the first to associate NEMO syndrome with systemic lupus erythematosus, suggesting a potential role for NF-kB essential modulator in the pathogenesis of SLE.
July 2025 in “Journal of Investigative Dermatology” Nelfb is essential for dermal fat development and survival.
14 citations
,
June 1982 in “Archives of Dermatology” This letter to the editor shares concerns about possible systemic effects from topical dinitrochlorobenzene therapy in a 25-year-old man treating alopecia areata.
January 2016 in “Human & Experimental Toxicology” This study reported that CCT oligodeoxynucleotide induced patchy hair loss in male mice with specific genetic traits, suggesting gender and genetic preferences in immune response.
4 citations
,
March 1999 in “International Journal of STD & AIDS” This report details a case of severe recurrent bacterial vaginosis in a woman with Netherton's syndrome.
8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.
7 citations
,
January 2022 in “Bioengineering” This study found that a lipid-based nanoparticle formulation with oleic acid for delivering dutasteride showed lower skin permeation compared to a formulation without oleic acid, indicating its potential for targeted dermal delivery.
477 citations
,
March 2004 in “Proceedings of the National Academy of Sciences” This study reports that the DMI3 gene, essential for nodule formation in legume-rhizobial symbiosis, encodes a calcium/calmodulin-dependent protein kinase, highlighting its role in multiple plant symbioses.
7 citations
,
January 2018 in “Neurodegenerative Diseases” This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.
7 citations
,
June 2011 in “Movement Disorders” A specific gene mutation is linked to a hereditary form of dystonia that responds well to certain medications.
13 citations
,
June 2024 in “Frontiers in Genetics” This review examined genetic factors in 46, XY differences/disorders of sex development and found that whole-exome sequencing is more effective than panel sequencing for molecular diagnosis. It identified regional genetic variation and emphasized next-generation sequencing's role in detecting variants related to gonadal and androgen-related genes.
September 2023 in “Journal of the American Academy of Dermatology” This study found that in participants with notalgia paresthetica, 8 weeks of treatment with difelikefalin significantly improved itch intensity and increased the rate of strict complete response compared to placebo, starting as early as week 3.
11 citations
,
September 2021 in “American Journal of Medical Genetics Part A” This study reports that newly diagnosed patients with Bachmann-Bupp syndrome exhibit a broader phenotype than previously documented, including late-onset seizures, and suggests a possible universal biochemical mechanism involving elevated ODC activity.
March 2005 in “European Urology Supplements” June 2026 in “The Journal of Sexual Medicine” This case report describes an extremely rare instance of seminoma in an adult with SRY-negative 46,XX testicular disorder of sex development, uniquely presenting as acute abdomen due to gonadal torsion.
5 citations
,
June 2024 in “Pharmacological Research” This study identified neuropilin-1 as the receptor for FOL-026 and showed that it stimulates angiogenesis and cell growth, suggesting potential for vascular repair and enhanced angiogenesis therapies.
58 citations
,
November 1969 in “British Journal of Dermatology” This report describes two patients with ichthyosis linearis circumflexa exhibiting symptoms resembling Netherton's disease, noting multiple hair shaft defects and discussing a possible connection to aminoaciduria.
140 citations
,
February 2014 in “Neuron” This study found that the opioid system, particularly via the delta opioid receptor, broadly regulates cutaneous mechanosensation, including touch, and suggests targeting this receptor could alleviate injury-induced mechanical hypersensitivity.