October 2023 in “Case reports in dermatological medicine” In this case report, a 45-year-old Jordanian woman was diagnosed with Clouston syndrome, an autosomal-dominant disorder characterized by alopecia and nail dystrophy due to a mutation in the GJB6 gene, though she lacked the typical palmoplantar keratoderma.
January 2023 in “Pediatrics International” This case study describes the diagnosis and treatment of a Japanese girl with non-classical 21-hydroxylase deficiency, highlighting the normalization of testosterone and control of clitoromegaly after hydrocortisone therapy, but continued overgrowth issues.
June 2021 in “International journal of research in dermatology” This report describes a child and his father with hereditary hypotrichosis simplex, an uncommon isolated form of hair loss, with no other ectodermal or systemic abnormalities noted.
January 2016 in “Zurich Open Repository and Archive (University of Zurich)” This study concludes that dietary L-serine supplementation shows promise as a long-term therapy for hereditary sensory and autonomic neuropathy type 1, reducing neurotoxic 1-deoxysphingolipid levels and improving symptoms in severe cases.
254 citations
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March 2023 in “Diagnostics” This manuscript reviews current diagnostic criteria for polycystic ovary syndrome, emphasizing the need for accurate diagnosis in both clinical and research settings, but it does not provide new clinical findings.
40 citations
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January 2013 in “Frontiers in Endocrinology” Finger length ratios are not linked to the number of specific gene repeats affecting testosterone sensitivity.
35 citations
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May 2015 in “Thrombosis Research” This review synthesizes knowledge on Prostaglandin E2's role in platelet biology and suggests that targeting PGE2 pathways could lead to personalized antiplatelet therapy without affecting hemostasis, but it presents no new results.
12 citations
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December 2017 in “Gynecological Endocrinology” This study found that the prevalence of PCOS in Thai adolescents was 5.29%, with moderate acne identified as the strongest associated risk factor.
10 citations
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January 2023 in “Skin Appendage Disorders” This review discusses the histological features and diagnostic challenges of alopecia areata and emphasizes the need for genetic research to develop future therapeutics; it reports no new clinical findings.
6 citations
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August 2024 in “Biomacromolecules” This study introduces a novel in vitro model for clubfoot fibrosis to enable high-throughput drug screening and found that while the model increased collagen deposition, the antifibrotic drug minoxidil effectively inhibited the expression of collagen cross-linking enzymes.
101 citations
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August 2010 in “PLoS ONE” In this mouse study, severe selenoprotein deficiency in epidermal cells was linked to skin abnormalities, disrupted hair follicle development, and progressive alopecia, highlighting the role of selenoproteins in skin and hair health.
46 citations
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August 2020 in “International Journal of Genomics” This review examines over 271 candidate genes associated with economic traits in goats, highlighting their potential use in genetic markers and future breeding programs, and reports no new experimental results.
17 citations
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February 2015 in “Experimental Dermatology” This report expands the known genetic mutations linked to monilethrix by identifying new patients with KRT83 mutations, confirming its role as a causative gene for this hair disorder.
This research observed that hairless guinea pig dermal fibroblasts were more sensitive to a toxic exposure than human dermal fibroblasts, suggesting that guinea pigs might serve as an intermediate model for translating in vitro findings to whole organisms.
January 2025 in “Turkish Journal of Cerebrovascular Diseases” This case report details two consanguineous patients with cerebral autosomal recessive arteriopathy, both having the same HTRA1 gene mutation, but exhibiting different clinical presentations, including one with epileptic seizures and lobar hemorrhages—previously undocumented in this condition.
April 2019 in “Journal of the Endocrine Society” This case report described a 39-year-old male with 47XXY/46XX mosaic Klinefelter syndrome who presented with common features of the condition and male pattern baldness seen in his family.
19 citations
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December 2015 in “Journal of Materials Chemistry B” This study found that using layer-by-layer encapsulation techniques on dermal papilla cells can support their function and may help treat hair loss when used in conjunction with freshly isolated epidermal cells.
January 2012 in “ScholarlyCommons (University of Pennsylvania)” This study found that miRNA biogenesis, facilitated by Dicer and Drosha, is crucial for adult hair follicles' growth and regeneration, highlighting their multiple roles during the hair follicle growth cycle.
26 citations
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October 2002 in “Journal of Investigative Dermatology” This study identifies a mutation in the hairless gene that may impact thyroid receptor interaction, contributing to alopecia universalis congenita in an Arab Israeli patient.
35 citations
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April 2014 in “American Journal of Medical Genetics” The study reported a significant genotype–phenotype correlation in prepubescent males with XLHED, particularly in the severity of skin and hair manifestations between those with different EDA mutations.
4 citations
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June 2021 in “Scientific Reports” This study found that examining hair morphology provides deeper insights than classification, suggesting a potential population stratification artefact between hair curvature and cross-sectional shapes in the examined admixed African-European sample.
1 citations
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November 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study introduced a new high-throughput method for analyzing scalp hair morphology and found that quantifying hair form provides more accurate information than traditional classification based on racial categories, challenging the belief that cross-sectional morphology predicts hair curvature.
15 citations
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June 2015 in “Human Cell” This study found that forming spheroids using silicone micro-wells improved the viability and neural differentiation potential of human adipose-derived stem cells after thawing.
August 2025 in “International Journal of Research in Dermatology” This case report highlights an atypical presentation of acrodermatitis enteropathica in an 18-year-old male, exhibiting symptoms like erythrokeratoderma variabilis with a positive response to high-dose oral zinc, underscoring the importance of considering zinc deficiency in unusual skin conditions.
16 citations
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February 2016 in “Gynecological Endocrinology” This study observed two distinct phenotypes among North Indian women with PCOS: obese hyperinsulinaemic dysglycemic women from Delhi and lean hyperandrogenic women from Srinagar, despite being in the same region.
July 2024 in “Journal of Rare Diseases” This review describes the genetic and phenotypic diversity of Woodhouse-Sakati syndrome, highlighting new DCAF17 gene variants and their varying clinical implications.
11 citations
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February 2019 in “Research and reports in forensic medical science” This article discusses the use of forensic DNA phenotyping to infer physical characteristics from biological samples without a reference sample, aiding investigations but raising ethical and legal concerns.
1 citations
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May 2026 in “Nature Communications” This study demonstrated that CD19-CAR T cell therapy may promote structural regeneration in the skin of systemic sclerosis patients, as evidenced by histological improvements and fibroblast population changes, suggesting its potential for tissue remodeling in fibrotic diseases.
1 citations
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September 2025 in “Frontiers in Immunology” In this study, researchers using a Treg-specific HuR-deficient mouse model found that the RNA-binding protein HuR is crucial for stabilizing Foxp3 mRNA, affecting Treg function and immune regulation, with HuR disruption leading to impaired Foxp3 expression and potential autoimmune dysfunction.
28 citations
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October 2004 in “Differentiation” This study identified a large deletion in the desmoglein 4 gene as the genetic basis of the Iffa Credo "hairless" rat's skin phenotype, linking it to lanceolate hair mutations.