6 citations
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July 2018 in “Scientific Reports” In this study, gene expression changes in rat whisker follicles after methamphetamine administration may serve as indicators of the drug's rewarding effects and potential addiction pathways.
2 citations
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June 2000 in “Journal of The American Academy of Dermatology” In this study, researchers found that heterozygous carriers of a mutation in the hairless gene showed no difference in the pattern of androgenetic alopecia compared to unaffected individuals.
This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.
April 2026 in “Human Genome Variation” In this study, researchers identified a recurrent MBTPS2 splice-site variant as a mutational hotspot in IFAP syndrome across diverse families, with phenotype severity suggesting the influence of additional modifiers.
In a case report, this study identified a new genetic variant in a six-year-old girl from Saudi Arabia with hypotrichosis and juvenile macular dystrophy, expanding the understanding of the genetic spectrum of this rare condition in the region.
February 2026 in “Orphanet Journal of Rare Diseases” This study identified pathogenic or likely pathogenic gene variants in 70.1% of Russian families affected by hypohidrotic ectodermal dysplasia, expanding knowledge of causative mutations.
August 2025 in “BMC Pregnancy and Childbirth” In this study, prenatal ultrasonography was found to be a valuable tool for screening ectodermal dysplasia during pregnancy, and a new EDA gene variant associated with X-linked hypohidrotic ectodermal dysplasia was identified, aiding in more accurate diagnoses and reproductive decision-making.
July 2025 in “Scientific Reports” In this study, researchers identified six novel prognostic biomarkers for bladder cancer and developed a predictive model that effectively stratifies patients into high-risk and low-risk groups based on immune cell infiltration differences and gene expression.
June 2025 in “Journal of Endocrinological Investigation” This review identifies and discusses various endocrine-related causes of hypertension in children and adolescents, emphasizing the role of genetic predispositions and highlighting the need for systematic diagnostic guidelines and genetic sequencing referrals to improve diagnosis and treatment strategies.
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.
This study presents a rare instance of Netherton syndrome diagnosed incidentally in siblings of consanguineous parents, initially misdiagnosed as other skin conditions, emphasizing the need for careful evaluation in chronic skin cases to prevent misdiagnosis.
January 2024 in “Archives of Endocrinology and Metabolism” In this case report, a novel heterozygous mutation in the insulin receptor gene was identified in an adolescent girl with type A insulin resistance syndrome, characterized by excessive hair growth and skin changes, and her mother.
August 2023 in “Acta Scientific Paediatrics” This case study reported a neonate of Indian descent with localized hypotrichosis type 1 due to a likely pathogenic deletion in the DSG4 gene, marking the first such case from India.
June 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This research found that the microtubule catastrophe factor KIF18B plays a crucial role in promoting spindle orientation in keratinocytes, linking this process to cell fate decisions during hair follicle morphogenesis.
September 2020 in “Adnan Menderes Üniversitesi Sağlık Bilimleri Fakültesi Dergisi” This review investigates the relationship between certain gene polymorphisms associated with obesity (FTO and MC4R) and Polycystic Ovarian Syndrome, reporting no new results but suggesting a potential genetic link.
June 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that the HoxC gene cluster is crucial for the development of hair and nails in mice, with key regulation by two mammalian-specific enhancers.
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.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
January 2016 in “SpringerBriefs in bioengineering” This article discusses the structure and function of the skin's epidermis, detailing its role as a protective barrier and nutrient exchange system, without presenting new research findings.
January 2015 in “Dermatology” The document covers various dermatological treatments and conditions.
222 citations
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January 2005 in “Endocrine journal” This article discusses the potential role of melatonin in protecting skin against stress and maintaining homeostasis, based on its local synthesis and various protective functions, but presents no new clinical results.
95 citations
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February 2019 in “The New England Journal of Medicine” This article discusses the potential genetic basis of central centrifugal cicatricial alopecia in women of African ancestry but does not provide new research results.
87 citations
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January 2017 in “PLoS Genetics” This study found that simultaneously inhibiting both KLK5 and KLK7 proteases completely rescued skin barrier defects in a mouse model of Netherton syndrome, suggesting both should be therapeutic targets.
41 citations
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November 2013 in “Experimental Dermatology” This study found that leptin acts as an inducer of the anagen phase in hair follicles, suggesting its role as a potential player in hair biology.
38 citations
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October 2014 in “Current Opinion in Endocrinology, Diabetes and Obesity” This review discusses the clinical and molecular history of 5-alpha reductase deficiency, highlighting its role in male sexual differentiation and potential therapeutic applications, but reports no new research outcomes.
20 citations
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July 2013 in “PLoS ONE” This study found that inhibiting EGFR signaling in mice can prevent alopecia caused by cyclophosphamide treatment, highlighting its potential role in managing chemotherapy-induced hair loss.
16 citations
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April 2007 in “Journal of Medical Primatology” This study reports that a 14-year-old female rhesus monkey with alopecia universalis was found to have a T-cell-mediated autoimmune disease similar to human alopecia areata universalis.
10 citations
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March 2015 in “Journal of dermatology” This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.
7 citations
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January 2014 in “Biological & pharmaceutical bulletin” This study found that rice bran oil extracted by supercritical CO2 can be considered non-genotoxic based on in vitro and in vivo test results, despite some chromosomal aberrations observed under specific conditions.
6 citations
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April 2013 in “Journal of Investigative Dermatology” This study reports that spironolactone use was associated with a decreased risk of developing rosacea compared to other diuretics, particularly in current users without previous androgenic skin disease diagnoses.