4 citations
,
October 2023 in “Children” This study diagnosed a group of six girls with various ectodermal abnormalities, identifying cranio-skeletal malformations consistent with focal dermal hypoplasia (Goltz syndrome), and found heterozygous mutations in the PORCN gene in two children.
34 citations
,
April 2014 in “Psychopharmacology” This review discusses the pharmacological properties and physiological regulation of neuroactive steroids, focusing on their varied responses to stress and ethanol in rats, mice, and humans, but it reports no new findings.
1 citations
,
January 2019 in “Elsevier eBooks” This review suggests that GABAergic neuroactive steroids modulated by alcohol could play a role in vulnerability to alcohol use disorders, providing a rationale for further therapeutic exploration.
24 citations
,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
4 citations
,
May 2006 in “médecine/sciences” This study suggests that the hairless gene encodes a nuclear factor important for hair follicle integrity, and its absence leads to hair follicle loss and defects in tissue development.
4 citations
,
November 2017 in “Scientific Reports” This study compiled an archive of 684 genes associated with monogenic hair disorders, identifying previously unrecognized components of Hippo signaling and proposing a new biologically-grounded disease taxonomy.
9 citations
,
March 2020 in “Gene” In this study, certain genetic variations in the ESR1 and ESR2 genes were strongly associated with polycystic ovary syndrome and related metabolic issues in Tunisian women.
November 2016 in “Elsevier eBooks” This chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.
20 citations
,
October 2016 in “Veterinary dermatology” This study reports that generalized discoid lupus erythematosus is a recognized canine variant of cutaneous lupus erythematosus, resembling its human counterpart, with varied treatment responses and common relapses.
23 citations
,
July 2003 in “Pharmacology, Biochemistry and Behavior” Finasteride blocks progesterone's effect on absence seizures in rats.
18 citations
,
March 2020 in “Frontiers in Neuroendocrinology” This study suggests that synthetic steroid analogues or 5α-reductase modulation could be potential therapeutic strategies for nervous system disorders, but further research on their effects is necessary.
November 2023 in “Journal of animal science/Journal of animal science ... and ASAS reference compendium” In this study, researchers examined the genetic factors impacting cortisol and DHEA concentrations in the hair of healthy pigs; they found that cortisol levels were heritable and genetically correlated with behavioral stress responses, suggesting these hormones could potentially serve as indicators for selecting disease-resilient pigs.
50 citations
,
February 2016 in “Journal of Investigative Dermatology” A mutation in the KRT25 gene causes a rare hair disorder with thin, woolly hair.
In this study, researchers performed a genome-wide characterization of the Wnt gene family in domestic donkeys, identifying 19 genes and highlighting their evolutionary conservation among mammals, along with tissue-specific expression patterns potentially linked to reproductive regulation and tissue homeostasis.
14 citations
,
February 2021 in “Experimental Dermatology” This study found that activating CB1 receptor signaling in human hair follicles increased stem cell proliferation while reducing differentiated cell survival, suggesting CB1's role as a survival stimulus for epithelial stem cells.
11 citations
,
November 2014 in “Behavior Genetics”
1 citations
,
April 2016 in “British Journal of Dermatology” Buschke-Ollendorff syndrome is a rare genetic disorder causing skin and bone changes, with some cases also showing ADHD or developmental delays.
1 citations
,
July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
359 citations
,
September 2017 in “European Journal of Epidemiology” This article discusses the rationale, design, and significant findings of the long-running Rotterdam Study but reports no new clinical results.
336 citations
,
August 2015 in “European Journal of Epidemiology” This article reviews the design and objectives of the Rotterdam Study, as well as summarizes major findings, without reporting new results.
64 citations
,
March 2017 in “Nature communications” This study identified 63 genetic loci associated with male-pattern baldness, uncovering genes and pathways that may help develop treatments and suggesting its connection to other human conditions.
49 citations
,
February 2019 in “The Journal of Clinical Endocrinology and Metabolism” This review offers evidence-based recommendations for diagnosing and treating female pattern hair loss, emphasizing clinical assessment and starting treatment with minoxidil, while noting that measurement of certain hormones and vitamins is optional.
23 citations
,
January 2013 in “Indian Journal of Dermatology, Venereology and Leprology” This article reviews the pathophysiology, diagnosis, and treatment of female pattern hair loss, highlighting the importance of early medical intervention to arrest hair loss progression, but reports no new clinical results.
14 citations
,
January 2015 in “Current problems in dermatology” This review addresses treatment approaches for female pattern hair loss, highlighting that combining different therapies may be more effective than single treatments, but no new results are reported.
November 2025 in “BMC Genomics” This study found that the systemic wrinkled skin phenotype in Xiang pigs involves gene expression changes and genetic variations associated with oxidative stress and extracellular matrix components, resembling features seen in Shar-Pei dogs.
January 2001 in “Cambridge University Press eBooks” This article discusses polycystic ovary syndrome (PCOS), its symptoms, and links to insulin resistance and type 2 diabetes, but reports no new research findings; the authors emphasize recognition of features in youth.
123 citations
,
December 2015 in “Journal of Neuroendocrinology” This review discusses recent strategies targeting the neuroactive steroid biosynthetic pathway to enhance neurosteroidogenesis, highlighting their potential benefits for neurodegenerative and neuropsychiatric diseases, but reports no new clinical findings.
51 citations
,
August 2013 in “The Journal of experimental medicine/The journal of experimental medicine” This study found that Wnt secretion is important for maintaining skin homeostasis in mice, as Evi-deficient mice developed psoriasis-like skin lesions and had an imbalance in immune cell populations.
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.
September 2024 in “Stem Cell Research & Therapy” This study found that extracellular vesicles derived from hyaluronic acid-stimulated induced pluripotent stem cells significantly improved hair growth in a model of androgenetic alopecia in mice by enhancing Wnt/β-catenin signaling and regulating androgen receptor activity, showing comparable results to the commonly used treatment finasteride.