12 citations
,
February 2008 in “Journal of The American Academy of Dermatology” This review discusses recent advances in molecular genetics and their impact on the accuracy and understanding of diagnosing inherited skin diseases but reports no new results.
11 citations
,
December 2014 in “The American journal of pathology” This study found that a genetic deletion causing truncated desmoglein 3 protein in mice led to severe pathologies, including cyclic hair loss and immunodeficiency, suggesting possible implications for human desmosome-related diseases.
9 citations
,
June 2000 in “Journal of The American Academy of Dermatology” This study reported that heterozygous carriers of a mutation in the human hairless gene did not differ from healthy homozygotes in the pattern of androgenetic alopecia.
7 citations
,
January 2019 in “Australasian Journal of Dermatology” In this study, the CYP 21A2 gene p.V281L mutation was associated with an increased susceptibility to familial frontal fibrosing alopecia, suggesting an antigen-driven mechanism linked to certain human leukocyte antigen haplotypes.
6 citations
,
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.
5 citations
,
May 2023 in “European Journal of Human Genetics” This study found that mutations in the TULP3 gene are associated with progressive degeneration of the liver, kidney, and heart in adults, highlighting the importance of early detection and management.
2 citations
,
May 2018 in “Expert opinion on orphan drugs” This review discusses Omenn syndrome, a form of severe combined immunodeficiency, highlighting its immunopathology and genetic defects without presenting new clinical results.
2 citations
,
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.
1 citations
,
November 2017 in “Expert opinion on orphan drugs” This review discusses the genetic basis of ectodermal dysplasia, highlighting that identification of gene pathologies enhances diagnosis and supports prenatal DNA testing, but it reports no new clinical results.
1 citations
,
May 2022 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that ulcerative colitis is associated with diverse molecular changes and chronic inflammation, with some biomarker levels partially recovering during remission.
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.
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.
November 2022 in “CARDIOMETRY” This article discusses the potential benefits of GcMAF and oral MAF, developed by "Saisei Mirai", for cancer and other conditions, but reports no new clinical results.
This genetic study identified a potential interval for the Marie Unna hypotrichosis gene but found no mutations in the nearby hr gene, suggesting its involvement remains unconfirmed.
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.
This reference list, part of a book by Alex Gough, Alison Thomas, and Dan O'Neill, compiles citations from veterinary journals on various canine and feline health issues, but reports no new research findings.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
This review discusses various syndromes of severe insulin resistance, their biochemical and clinical features, and potential therapeutic options, but it reports no new clinical results.
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.
411 citations
,
April 2010 in “Gastroenterology” This review explores various theories of colorectal cancer stem cell biology and highlights the need for better identification and targeting of these cells to advance treatment strategies, but reports no new clinical findings.
349 citations
,
January 2005 in “The FASEB journal” This review discusses the cutaneous serotoninergic/melatoninergic system's potential role in skin function and resilience against environmental and internal stresses, but does not report new experimental findings.
222 citations
,
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.
157 citations
,
May 2021 in “Endocrine Reviews” This review discusses recent advancements in understanding and managing congenital adrenal hyperplasia, including improvements in screening, diagnostics, and potential genetic and cell-based treatments, but reports no new clinical findings.
84 citations
,
July 2003 in “European journal of biochemistry” This study found that mouse skin can produce and metabolize serotonin and N-acetylserotonin, with activity influenced by location, physiological skin status, cell type, and mouse strain.
81 citations
,
November 2012 in “Journal of the National Cancer Institute” This study found that FLCN deficiency in mice muscles led to increased mitochondrial biogenesis and a metabolic shift towards oxidative phosphorylation, with a similar advantage observed in FLCN-null kidney cancer cells.
66 citations
,
January 2001 in “Vitamins and hormones” This chapter reviews the role of androgen receptors in mediating the actions of androgens in specific tissues and provides no new experimental findings.
65 citations
,
July 2006 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that overexpression of Hoxc13 in GC13 mouse models affects hair follicle differentiation by interacting with medulla-specific genes, particularly Foxq1, suggesting a regulatory pathway for medulla differentiation.
62 citations
,
September 2014 in “PLoS ONE” This study identified distinct human and bacterial protein profiles in sebaceous follicular casts, with acne samples showing proteins linked to inflammation and normal samples showing proteins involved in stress protection.
51 citations
,
January 2007 in “Animal Genetics” This study identified the location of the genetic locus for the slick hair coat trait in cattle on bovine chromosome 20, which may contribute to heat tolerance.
44 citations
,
November 2009 in “Archives of Dermatology” This study observed that patients with CYLD mutations frequently experienced severe, painful tumors beyond the head and neck, impacting their quality of life, with hormonal factors possibly contributing to tumor development.