24 citations
,
July 2011 in “PubMed” This review discusses the classic skin characteristics of hypothyroidism, notably generalized myxedema caused by increased glycosaminoglycan deposition, and reports no clinical results.
21 citations
,
November 2009 in “Dermatologic Clinics” This review discusses hair abnormalities in various epidermolysis bullosa subtypes and reports no new clinical findings.
20 citations
,
October 2017 in “Stem Cell Reports” This study found that loss of the ACER1 gene in mice led to increased ceramide levels and progressive hair loss, highlighting ACER1's role in maintaining hair follicle stem cell homeostasis.
19 citations
,
May 2004 in “The American Journal of Dermatopathology” In this study, scalp biopsies from HJMD patients revealed histological similarities to chronic telogen effluvium and highlighted the role of CDH3 mutations disrupting normal hair cycles.
16 citations
,
July 2021 in “American Journal of Medical Genetics Part A” This study identified novel LSS mutations implicated in hypotrichosis simplex with or without neurodevelopmental abnormalities, highlighting the need for careful evaluation of synonymous mutations' potential pathogenic effects.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
8 citations
,
November 2017 in “Journal of Investigative Dermatology” In this study, researchers found that androgenetic alopecia is associated with increased gene expression related to inflammation, stress, and fibrosis, particularly affecting the hair follicle stem cells and showing similarities to diseases like psoriasis.
7 citations
,
October 2020 in “Wiener medizinische Wochenschrift” This paper presents a case study of a 21-year-old male with thyroid hemiagenesis, where the left thyroid lobe and isthmus are absent, and discusses the anomaly's potential clinical consequences based on existing literature.
7 citations
,
May 2020 in “Trends in molecular medicine” This study explored the immune environment of the hair follicle's bulge region and suggested that its unique signaling may prevent melanoma formation by lacking necessary proinflammatory signals for full oncogenic transformation, indicating potential strategies for melanoma prevention by replicating this immune-privileged environment.
6 citations
,
September 1998 in “The Journal of The British Menopause Society” This review discusses the changes in androgen levels with age in women and the potential benefits of testosterone replacement therapy as part of hormone replacement therapy for postmenopausal women, but it reports no new clinical results.
5 citations
,
September 2018 in “International journal of genomics” This study found that keratin damage in mammals and birds can result from N-homocysteinylation, reducing keratin solubility and indicating significant protein modification through genetic or nutritional disruptions in homocysteine metabolism.
4 citations
,
January 2014 in “Dermatology” This case report details a woman with autoimmune primary ovarian insufficiency linked to hormonal contraception discontinuation, who achieved pregnancy through ovarian stimulation and in vitro fertilization despite typically low fertility in such conditions.
4 citations
,
November 2020 in “BMC Dermatology” This study identified 374 eQTLs in scalp hair follicles associated with genes involved in metabolic, mitotic, immune processes, and responses to steroid hormones, contributing insights into genetic variation and hair traits.
3 citations
,
June 2017 in “Reproductive biomedicine online” In this study, the SRD5A2 rs523349 polymorphism was significantly associated with an increased risk of miscarriage, particularly during the second trimester.
1 citations
,
January 2024 in “Nature communications” This study found that stimulating toll-like receptor 5 via mucosal delivery of a flagellin-containing fusion protein effectively extended lifespan and enhanced healthspan in mice, including improved bone density and cognitive capacity.
1 citations
,
August 2021 in “Canadian journal of neurological sciences” This article offers HTML content and a downloadable PDF but does not provide an abstract or new findings for summary.
May 2025 in “Frontiers in Genetics” This study reported discovering a novel missense variant in a case of autosomal recessive woolly hair in a 31-year-old Chinese woman, which significantly reduced secretion of the encoded protein, likely leading to disease by impairing its hydrolytic function.
March 2024 in “GSC Advanced Research and Reviews” This study observed that exposure to different wavelengths of light affects opsin and clock gene responses in skin cells, suggesting potential therapeutic approaches using photobiomodulation for dermatological conditions like psoriasis and wound healing.
February 2024 in “Future science OA” This commentary highlights that the loss of the Y chromosome may disrupt UTY/TLE1-RUNX1 interactions, potentially impacting male hematopoietic cell development and leading to conditions like acute myeloid leukemia and T-cell acute lymphoblast leukemia.
April 2020 in “Journal of the Endocrine Society” This case report emphasizes the importance of recognizing non-classic congenital adrenal hyperplasia as a cause of hyperandrogenism and the need for genetic counseling given potential familial implications.
This study found that loss of the DNA methyltransferase Dnmt3a, but not Dnmt3b, increased carcinogen-induced squamous tumors in murine epidermis, with combined deletion leading to more aggressive and metastatic carcinomas.
The research found that while Dnmt3a and Dnmt3b are not necessary for skin homeostasis in mice, the loss of Dnmt3a increases squamous tumor formation from carcinogens, and combined deletion of both results in more aggressive and metastatic tumors.
August 2016 in “Journal of Investigative Dermatology” This study explored the role of nine specific miRNAs in human hair follicles, revealing significant miRNA/mRNA correlations for miR-24, miR-31, and miR-106a and identifying target genes involved in hair biology.
June 2015 in “Biomedical and biopharmaceutical research” This article reviews EU cosmetic product claim regulations and highlights increased harmonization and enforcement while reporting no new results.
This review discusses cyclosporine A's mechanisms of action and side effects compared to tacrolimus in renal transplantation, but it reports no new experimental results; the authors highlight implications for cardiovascular risk management.
June 2024 in “Clinical Endocrinology and Metabolism” This article examines when it is appropriate to prescribe estrogen for women with hormonal imbalances, utilizing decades of clinical practice, expert consultation, and a comprehensive literature review.
May 2021 in “Journal of the Endocrine Society” This case report details a diagnosis of adult-onset isolated hypogonadotropic hypogonadism in a 23-year-old African American female, highlighting its genetic basis and treatment approach.
This report presents a case of IFAP syndrome with the typical symptoms of alopecia universalis, severe photophobia, and follicular ichthyosis, but provides no additional clinical findings or conclusions.
234 citations
,
September 2004 in “Clinical cancer research” In this Phase II study, BAY 43–9006, taken orally for renal cell carcinoma, stabilized disease in 30% of patients, with 40% responding positively, although the targets remain unclear.
318 citations
,
January 2022 in “Signal Transduction and Targeted Therapy” This study systematically reviews the Wnt/β-catenin signaling pathway, discussing its origin, composition, function, involvement in tumors and diseases, and the development of small-molecular compounds targeting this pathway for disease treatment.