89 citations
,
September 2010 in “Annual Review of Genomics and Human Genetics” This review discusses the genetic factors involved in hair follicle morphogenesis and cycling and reports no new clinical results; it emphasizes the role of genes in hereditary hair diseases.
4 citations
,
February 2025 in “BMC Genomics” This study identified 71 SNPs linked to black wool traits in Qira sheep and found that specific mutations in the TYRP1 gene significantly correlate with coat color variations, providing insights for their genetic selection and conservation.
2 citations
,
May 2018 in “Expert opinion on orphan drugs” This review discusses Omenn syndrome, a form of severe combined immunodeficiency, highlighting its immunopathology and genetic defects without presenting new clinical results.
January 2021 in “Medical Research Archives” This study observed that 25-hydroxyvitamin D3 restored rickets symptoms in genetically modified rats, suggesting its direct action through vitamin D receptor pathways.
September 2019 in “Journal of Investigative Dermatology” This study found that mosaic mutations in the CARD14 gene are linked to inflammatory linear verrucous epidermal naevus in two patients, who experienced significant improvement with the IL12/IL23 inhibitor Ustekinumab.
November 1983 in “American Biology Teacher” This article revisits the genetics of pattern baldness but reports no new clinical findings.
10 citations
,
August 2022 in “Bulletin of Mathematical Biology” This study demonstrated that the Turing bifurcation, typically a pitchfork bifurcation under zero-flux conditions, becomes transcritical under fixed boundary conditions, highlighting the importance of considering boundary condition variations in morphogenetic analyses.
10 citations
,
June 2011 in “Movement Disorders” THAP1 gene changes do not affect DYT1 dystonia; finasteride may help reduce tics and OCD in Tourette syndrome.
November 2009 in “Medical & surgical dermatology” This study found that haploinsufficiency of SPINK5 can lead to Netherton syndrome when a single null mutation combines with homozygous G1258A polymorphisms, suggesting it acts as a genuine mutation affecting LEKTI function.
87 citations
,
July 2018 in “Biochimica et Biophysica Acta (BBA) - Molecular Cell Research” This review discusses the essential roles and complex regulation of PP2A in various physiological processes and reports no clinical results; the authors highlight the need for further mouse model research to explore PP2A's therapeutic potential.
244 citations
,
September 2008 in “Annual Review of Genomics and Human Genetics” This review examines the direct-to-consumer genetic testing market, highlighting the available tests, regulatory issues, and calls for increased oversight, and reports no new results.
21 citations
,
October 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified specific germline and somatic mutations in the Phospholipase C Delta 1 gene as high-risk factors for developing hereditary trichilemmal cysts, involving a monoallelic two-hit mechanism.
1 citations
,
November 2014 in “British journal of medicine and medical research” This study investigated the inheritance patterns of PCOS and found that 33% of participants had metabolic syndrome, which was more prevalent in first-generation relatives.
February 2026 in “Journal of Integrative Neuroscience” In this study, transplantation of hair follicle stem cells and nerve growth factor-modified stem cells significantly reduced amyloid deposition and tau hyperphosphorylation in an Alzheimer's disease rat model, suggesting potential as a treatment option.
50 citations
,
April 2014 in “Nature Communications” This study analyzed skin from 538 knockout mouse mutants and identified 50 with epidermal phenotypes, providing valuable insights into genetic conditions and systemic effects related to skin abnormalities.
October 2025 in “Clinical Cosmetic and Investigational Dermatology” This study established consensus guidelines for diagnosing and managing androgenetic alopecia in Egypt, emphasizing individualized care and emerging therapies based on a survey of Egyptian dermatologists and refinement through expert review.
14 citations
,
October 2018 in “Brain Research Bulletin” This article reviews the role of exosomes in promoting axonal regeneration and discusses recent findings on how exosome-borne molecules might influence the PTEN-mTOR pathway in injured neurons; it reports no new experimental results.
45 citations
,
February 2019 in “Journal of Affective Disorders” This study found that 12 weeks of melatonin supplementation improved mental health and metabolic parameters in women with polycystic ovary syndrome compared to a placebo.
45 citations
,
October 2014 in “Stem cell research & therapy” This study found that using 3D Gel-C6S-HA scaffolds seeded with VEGF165-modified rat hair follicle stem cells enhanced angiogenesis and vascularization in tissue-engineered skin, improving wound healing.
3 citations
,
January 2010 in “Ghent University Academic Bibliography (Ghent University)” This article reviews the impact of the 2000 revision of the European Patent Convention on drug patent protection and raises concerns about its effects on generic substitution and healthcare professionals.
1 citations
,
September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
February 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that distinct spiny hair morphologies in rodents arose independently multiple times but did not link the Ecdysoplasin A receptor gene mutation that affects human hair to these variations.
30 citations
,
December 2001 in “Experimental dermatology” This study found that gonadal steroid hormones influence alopecia areata in C3H/HeJ mice, with estradiol promoting progression and dihydrotestosterone conferring resistance to disease onset.
57 citations
,
April 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that the vitamin D receptor is crucial for initiating the postnatal hair follicular cycle in mice, preventing alopecia associated with its inactivation.
48 citations
,
May 2015 in “PLOS ONE” This study found that a genetic test using 5 to 20 SNPs can predict male pattern baldness with variable accuracy in European men, especially those aged 50 and older.
5 citations
,
February 2011 in “Expert Opinion on Drug Discovery” This review discusses techniques and models for assessing hair growth activity but reports no new clinical findings, emphasizing the need for standardization and improved animal models.
January 2016 in “Journal of The Korean Medical Association” This paper discusses alopecia areata, its autoimmune nature, factors influencing susceptibility, diagnostic challenges, and treatment limitations, concluding that no current therapy is curative or preventive; it reports no new clinical results.
June 2008 in “British Journal of Dermatology” This article summarizes the main plenary sessions of the 88th Annual Meeting of the British Association of Dermatologists and reports no new clinical findings.
211 citations
,
April 2018 in “Cold Spring Harbor Perspectives in Biology” Keratins are crucial for cell structure, growth, and disease risk.
July 2011 in “Springer eBooks” This review discusses both conventional and new pharmaceutical treatments for hair loss, as well as various natural and herbal remedies, but reports no new clinical results.