12 citations
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February 2017 in “International journal of developmental neuroscience” This study observed that reduced in utero exposure to the neurosteroid allopregnanolone increased anxiety-like behavior in female guinea pigs during the juvenile period without affecting long-term allopregnanolone levels.
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.
8 citations
,
November 2012 in “Journal of Endocrinological Investigation” This study found that Greek women with classic PCOS phenotypes have a higher risk of metabolic syndrome and impaired glucose homeostasis compared to those with newer PCOS phenotypes.
5 citations
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August 1983 in “PubMed” This study found that isozyme profiles in polyoma virus-induced tumors were consistent and distinctive for each tumor type, except for salivary and mammary tumors which shared a profile.
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.
December 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, 25% of CCHCR1-deficient mice exposed to stress developed hair loss similar to human alopecia areata, suggesting CCHCR1 is a susceptibility gene for the disease.
April 2010 in “The journal of immunology/The Journal of immunology” This study found that deleting the FoxN1 gene in mice disrupted the 3D thymic epithelial structure and led to 2D epithelial cysts, revealing its crucial role in thymus organization but not causing athymia.
233 citations
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October 2004 in “Differentiation” Stem cells are in deep skin layers, while differentiating cells are in shallow layers.
50 citations
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February 2004 in “Genomics” This study identified a missense mutation in the rat Desmoglein 4 gene, causing abnormal hair shaft development in lanceolate hair mutant rats by disrupting a critical calcium binding site.
31 citations
,
January 2014 in “Clinical Endocrinology” This study found no significant differences in metabolic characteristics between different phenotypes of PCOS or between women with PCOS and healthy controls among reproductive-aged Iranian women.
19 citations
,
October 2016 in “Journal of oncology pharmacy practice” In this study, the first case of a persistent curly hair phenotype was reported with nivolumab treatment in a patient with metastatic squamous cell lung cancer.
9 citations
,
March 1998 in “Journal of Dermatological Science” Improper regulation of hair follicle processes causes hairlessness.
November 2025 in “Basic and Clinical Andrology” This systematic review and meta-analysis found that male first-degree relatives of women with PCOS have increased rates of metabolic issues, hormonal imbalances, and androgenic features compared to controls, suggesting a male equivalent of PCOS.
In this multicenter study, belimumab effectively reduced disease activity in systemic lupus erythematosus patients with joint and skin manifestations, showing significant improvement in acute and subacute skin types earlier than in chronic types, while no significant benefit was observed for nonspecific skin manifestations.
January 2024 in “Genetics in Medicine Open” This case study of a patient with a variant in the extracellular region of IL6ST suggests a potential expansion of the phenotypic spectrum for autosomal dominant hyper-IgE syndrome, warranting further investigation.
April 2023 in “Journal of Investigative Dermatology” This study found that using 3D total body imaging with convolution neural networks accurately identifies risk phenotypes for melanoma, suggesting improved objective stratification for early detection and prevention.
May 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study observed that circulating testosterone affects baseline sex differences in voiding function in C57BL/6J mice, with prostate lobe mass having a lesser impact.
April 2016 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, Mpzl3-/- mice developed severe seborrhea-like dermatitis with skin inflammation, indicating MPZL3's role in the skin condition's development, independent of adaptive immunity.
January 2026 in “International Journal of Dermatology” This review examines the androgen-dependent subtype of acquired progressive kinking of the hair and suggests it may be an early indicator of androgenetic alopecia, emphasizing the importance of distinguishing between subtypes for clinical decisions.
April 2018 in “Journal of Investigative Dermatology” This study found that inhibiting NF-κB Essential Modulator (NEMO) in senescent murine dermal fibroblasts successfully reduced key factors associated with the senescence associated secretory phenotype (SASP), highlighting its potential as a therapeutic target for aging-related diseases.
April 2019 in “Journal of Investigative Dermatology” This study reported that mSKPs and DMSCs share similarities in biological characteristics but exhibit distinct transcriptome profiles, with mSKPs being more immune-related and DMSCs more associated with differentiation and disease pathways.
This study found that higher scores of hair loss on the Hamilton-Norwood scale correlated with increased hair gain in the conchal bowl in men, suggesting potential age-related adaptations beyond cosmetic concerns.
June 2026 in “EP Europace” This study found that minoxidil and finasteride, commonly used for androgenetic alopecia, were associated with different arrhythmia profiles in adverse event reports: minoxidil predominantly with supraventricular arrhythmias and finasteride primarily with ventricular arrhythmias in men.
May 2023 in “Accounts of chemical research” This study aimed to identify new quantitative geometric and mechanical parameters for curly and kinky hair using various microscopy and mechanical analysis methods, revealing correlations between hair fiber geometry and mechanical performance to enhance personal care product development and promote cultural inclusion.
January 1990 in “Advances in forensic haemogenetics” This study used one-dimensional SDS electrophoresis to examine low sulfur proteins in hair samples from multiple generations within five families, but does not report new results.
62 citations
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April 2013 in “Steroids” This review discusses the age-related diagnostic challenges and comorbidities of polycystic ovarian syndrome and provides no new clinical findings; the authors emphasize the role of obesity in insulin resistance among affected women.
20 citations
,
November 2003 in “American Journal Of Pathology” Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
18 citations
,
July 2019 in “Clinical Endocrinology” The researchers reported that among Mediterranean Sicilian women with PCOS, Phenotype B exhibited the most severe metabolic abnormalities, notably obesity and altered glucose metabolism, whereas Phenotype D showed no such issues.
9 citations
,
May 2014 in “BMC medical genetics” In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.
6 citations
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May 2013 in “PloS one” This study found that the Foxn1(-/-) nude phenotype significantly influences epithelial progeny in skin, with notable changes in stem cell niches not achievable in other models.