6 citations
,
November 2011 in “Journal of Dermatological Science” A new gene mutation may allow some piebaldism patients to regain skin color in white patches.
5 citations
,
December 2017 in “The Journal of Dermatology” This report describes a unique case of Schöpf–Schulz–Passarge syndrome in a Taiwanese man linked to a previously unreported homozygous WNT 10A mutation, underscoring its role in ectodermal dysplasia.
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 2019 in “Journal of Dermatology” This letter to the editor discusses the natural course of epidermolysis bullosa simplex with mottled pigmentation in a Japanese family but does not present new clinical results.
2 citations
,
January 2019 in “Annals of Dermatology” Certain gene variations in EGF and EGFR may increase the risk of alopecia areata in Koreans.
1 citations
,
September 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This article reviews a variety of research presentations from the Society for Investigative Dermatology's annual meeting, highlighting advances in dermatological research without reporting new clinical results.
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.
6 citations
,
January 2020 in “BMC Medical Genetics” In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.
41 citations
,
June 2010 in “Journal of Investigative Dermatology” This study suggests that new cells are incorporated into the dermal papilla during the early anagen phase of the hair cycle, which may influence hair growth consistency and follicle size changes.
28 citations
,
August 2014 in “Journal of Assisted Reproduction and Genetics” This study found that the VEGF +405G/C polymorphism may be an inheritable risk factor for polycystic ovary syndrome in south Indian women.
10 citations
,
November 2018 in “Genetics in medicine” This study identified a genetic variant in the CTS6 gene associated with a hypotrichosis syndrome, emphasizing the significant role of cystatin M/E in hair and skin health.
9 citations
,
June 2019 in “Mycopathologia” This study found that the presence of Malassezia fungi in the scalp's hairy roots was more pronounced in individuals with androgenetic alopecia than in healthy controls, suggesting a potential link to the condition.
6 citations
,
December 2021 in “PLoS Genetics” This study found that PRC2 plays a non-instructive role in adult hair follicle stem cells, with its loss not affecting quiescence or cell identity, despite upregulation of genes linked to activation.
4 citations
,
March 2021 in “Parasitology Research” This case study reports the first clinical case of besnoitiosis in two donkeys in Italy, suggesting a wider distribution of the disease in European equids than previously expected.
2 citations
,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This article discusses the MendelVar webserver, which integrates Mendelian disease data with GWAS findings to prioritize candidate genes for complex traits and reports no new experimental results.
1 citations
,
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.
1 citations
,
January 2021 in “Advances in animal and veterinary sciences” This study observed a high prevalence of the dermatophyte M. canis in humans and pets in Egypt, particularly highlighting the potential for zoonotic transmission from dogs and cats to humans.
October 2020 in “Veterinary Dermatology” This review discusses autoimmune blistering diseases across species and highlights new treatment efficacy findings and ongoing trials, but it reports no new clinical results.
December 2018 in “Notulae Botanicae Horti Agrobotanici Cluj-Napoca” This issue of Notulae Botanicae Horti Agrobotanici Cluj-Napoca reviews new research topics in plant science, including plant root hair growth in response to hormones and micropropagation techniques, without reporting additional clinical results.
January 2018 in “Stem cell biology and regenerative medicine” This review discusses how the nuclear lamina integrates biochemical and mechanical signals to influence gene expression and skin homeostasis, but reports no new clinical results.
April 2017 in “Journal of Investigative Dermatology” This study found that PRC1 plays crucial roles in skin epithelial stem cell regulation, with catalytic and non-catalytic functions impacting epidermal integrity, hair development, and Merkel cell dynamics in murine models.
April 2017 in “Journal of Investigative Dermatology” This study suggests that sirolimus and propranolol may reduce abnormal lymphatic endothelial cell proliferation in lymphatic malformations, potentially improving vessel function and patient outcomes.
April 2017 in “Journal of Investigative Dermatology” This study found that knocking out STAT5 expression in specific mouse hair follicles after tamoxifen treatment initiated uniform hair growth, highlighting STAT5's role in regulating the hair growth cycle.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
April 2017 in “Journal of Investigative Dermatology” This study identified five master regulators that mediate molecular differences in hair follicle development and sexual dimorphism in the skin, providing insights into male pattern baldness and hair follicle donor dominance.
49 citations
,
January 2004 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” This review discusses the development and selectivity of 5 alpha-reductase inhibitors, particularly non-steroidal ones, and reports no new clinical trial results.
37 citations
,
March 2006 in “Regulatory Peptides” This study reports that GLP-1 receptors and proglucagon are expressed in the skin of newborn mice, with GLP-1 potentially playing a role in skin development and hair follicle formation.
13 citations
,
January 2022 in “Advances in Dermatology and Allergology” This review discusses the relationship between gut microbiota and alopecia areata, and it does not report new clinical results.
7 citations
,
December 2014 in “Gynecological Endocrinology” This study found that LC-MS/MS is a more reliable method than immunoassays for measuring serum 17OHP and androgen levels in women with hyperandrogenism.
7 citations
,
July 2014 in “Reproductive Biomedicine Online” This study found that, among fertile egg donors, the AR gene CAG polymorphism was associated with differences in antral follicle count but did not impact ovarian response to gonadotrophins.