37 citations
,
August 2019 in “Frontiers in Microbiology” This study found that the S. epidermidis A/C lineage is more pathogenic due to its metabolic and genomic versatility, which allows it to adapt quickly from a commensal to a pathogenic lifestyle.
22 citations
,
September 2014 in “JAMA dermatology” This study identified major criteria including ectodermal malformations for diagnosing ichthyosis with confetti, and revealed significant genetic variation in the disease locus within the general population.
8 citations
,
April 2016 in “Experimental Dermatology” The researchers reported that in mice, the type of tumor suppressor deleted along with oncogenic Kras activation in HFSCs influenced the specific squamous cell carcinoma phenotype that developed.
4 citations
,
October 2003 in “Annales de Génétique” This study identified a mutation in the KRTHB6 gene in two monilethrix families of Indian origin, linking specific genetic variations to different severities of hair defects within the families.
This study found that in Chinese Alashan Left Banner White Cashmere goats, guard hair length was positively correlated with guard hair diameter and down fiber length, but not with body weight at first combing.
January 2023 in “Türkiye klinikleri adli tıp ve adli bilimler dergisi” This review discusses forensic DNA phenotyping, focusing on male pattern baldness and its prediction through SNP markers, but reports no new results.
30 citations
,
December 2017 in “Journal of The American Academy of Dermatology” This correspondence discusses proposed updates to the diagnostic criteria for frontal fibrosing alopecia, emphasizing the importance of differentiating it from other types of alopecia.
23 citations
,
January 2011 in “International Journal of Immunopathology and Pharmacology” In this small study, topical minoxidil 2% was associated with an increase in normal hair shaft production in patients with Monilethrix without any reported side effects.
5 citations
,
March 2022 in “Clinical Cosmetic and Investigational Dermatology” This study proposed a model that accurately predicts skin condition using genotype information and machine learning, suggesting potential for creating customized cosmetics.
December 2020 in “Research Square (Research Square)” This study identifies a strong association between a 505-bp indel mutation in the FGF5 gene and cashmere growth in goats, suggesting potential use as a genetic marker in breeding programs.
37 citations
,
October 2024 in “JAMA Network Open” This study found that among reproductive-age women across India, there was a high prevalence of PCOS, with phenotype C being predominant and most women exhibiting metabolic abnormalities, highlighting the importance of integrating PCOS management into national health strategies.
13 citations
,
June 2012 in “European journal of medical genetics” In this study, researchers observed monochorionic diamniotic twins with discordant clinical phenotypes, where one had high-grade trisomy 12p mosaicism in certain tissues, while the other showed confined mosaicism likely due to twin-to-twin transfusion.
8 citations
,
September 2016 in “Pediatric dermatology” This review discusses the diverse clinical manifestations of mucopolysaccharidoses in children and emphasizes the importance of early diagnosis and treatment initiation, but it reports no new clinical findings.
April 2024 in “Journal of clinical medicine” The research observed that among Ecuadorian Andean women with polycystic ovary syndrome, classical phenotypes A and B were more prevalent and associated with higher risks of insulin resistance and metabolic disorders compared to phenotypes C and D.
36 citations
,
March 2019 in “European Journal of Human Genetics” This study found genetic variations, including de novo variants and copy number variations, that may be associated with phenotypic discordance in monozygotic twins with various clinical conditions.
33 citations
,
July 1992 in “Journal of Investigative Dermatology” Minoxidil doesn't affect perifollicular lymphoid infiltration in alopecia areata patients.
30 citations
,
July 2008 in “Reproductive Biology and Endocrinology” This study found that participation in a training workshop can significantly improve the reliability of evaluating ultrasonographic features of polycystic ovaries, suggesting standardized training modules should be used for consistent diagnosis of PCOS.
25 citations
,
July 2013 in “Environmental Toxicology and Chemistry” This study found that spironolactone reduced fish fecundity and caused masculinization of females at certain concentrations, while having no effect on Daphnia magna reproduction, underscoring concerns for environmental exposure to vertebrates.
21 citations
,
December 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study demonstrates that T-cell responses in extensive alopecia areata scalp may be aberrantly regulated, with reduced cytokine production but activated phenotype, providing insight into the disease's immune mechanisms.
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
,
April 2015 in “British Journal of Dermatology” This report describes two cases of white piedra caused by Trichosporon inkin in a northern climate, detailing clinical findings and diagnosis without presenting new experimental results.
7 citations
,
June 2021 in “Cell Proliferation” This study found that direct interactions between human dermal papilla cells and melanocytes under low oxygen conditions improved cell functions and could be important for hair regeneration efforts.
5 citations
,
June 2016 in “Twin research and human genetics” In this study, heritability analyses in twins and siblings revealed that genetic factors predominantly influence hair diameter and curvature, with notable sex differences in their genetic impact.
4 citations
,
December 2013 in “The Journal of Dermatology” This letter to the editor discusses a case of delayed-onset pachyonychia congenita linked to a new mutation in keratin 6b but presents no new research findings.
3 citations
,
January 2012 in “Hanyang Medical Reviews” This review discusses the pathogenesis of hirsutism and related diagnostic criteria for polycystic ovary syndrome in Korean women, but reports no new clinical results.
2 citations
,
May 2023 in “Veterinary Pathology” This article outlines methods to study the skin and its molecular traits, focusing on interpretation and techniques applicable to mouse models, including diverse assays and approaches like electron microscopy and large-scale lipid analyses.
2 citations
,
January 2018 in “International Journal of Trichology” This case report describes trichothiodystrophy in two sisters with only hair fragility, illustrating the condition's variable presentation and the importance of regular monitoring for potential associated impairments.
1 citations
,
November 2023 in “Reproductive biology and endocrinology” This study found that among Iranian women with PCOS, phenotype B displayed the highest prevalence of insulin resistance, significantly differing from other phenotypes, suggesting phenotype could guide management of PCOS-related insulin issues.
1 citations
,
August 2022 in “Plant Signaling & Behavior” This study found that certain growth media combinations influence the development of Arabidopsis thaliana root hairs, identifying specific conditions that promote the growth of the longest root hairs.
1 citations
,
January 2022 in “Saudi journal of medicine” This systematic review found that PCOS is a leading cause of anovulatory infertility, accounting for 70% of such cases, and emphasized the importance of using ultrasound for diagnosis.