117 citations
,
May 2017 in “Human Reproduction Update” This review examines the epidemiology, pathophysiology, diagnosis, and management strategies for non-classic congenital hyperplasia due to 21-hydroxylase deficiency, and provides evidence-based recommendations for its treatment and genetic counseling.
98 citations
,
June 2001 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified a cluster of genes on chromosome 17 related to hair keratin-associated proteins, including 37 genes forming seven multigene families, localized in the hair shaft's upper cortex.
98 citations
,
April 1997 in “The Journal of Steroid Biochemistry and Molecular Biology” Finasteride effectively blocks rat enzymes, but with varying methods and strength.
93 citations
,
February 2009 in “Annals of the New York Academy of Sciences” This review describes the roles of 5α-reductase isozymes in prostate development and pathology and reports no new clinical results.
93 citations
,
April 2003 in “Proceedings of the National Academy of Sciences of the United States of America” This study identified an unexpected critical role for the FATP4 protein in skin and hair development in mice, linking it to a potential candidate gene for restrictive dermopathy in humans.
91 citations
,
May 2003 in “American Journal of Pathology” This study found that prolactin and its receptor are expressed in the murine hair follicle epithelium, influencing hair cycle phases by down-regulating keratinocyte proliferation during anagen and inducing premature catagen.
87 citations
,
March 2011 in “Australasian Journal of Dermatology” This review explores the current understanding of genetic and hormonal influences on male androgenetic alopecia and female pattern hair loss, providing guidance for clinicians but reports no new results.
76 citations
,
June 2015 in “Journal of biomedical science” This study demonstrated that dominant mutations in mouse gasdermin A3 disrupt mitochondrial oxidative stress regulation, suggesting a gain-of-function effect on epidermal differentiation.
74 citations
,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.
73 citations
,
June 2010 in “PLoS Genetics” This study identified that a deficiency in the palmitoyl transferase enzyme, due to a mutation in the Zdhhc13 gene, led to severe physiological abnormalities in mice, including skin, bone, and systemic amyloid issues.
73 citations
,
June 2001 in “Endocrinology” In this study, researchers found that disrupting the PRL gene in mice led to earlier hair molting, especially in females, suggesting that PRL inhibits murine hair cycle events.
62 citations
,
November 2009 in “Aging Cell” Hedgehog signaling helps keep hair follicle stem cells the same in both young and old human skin.
62 citations
,
January 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified 16 novel high sulfur KAP genes and two KAP pseudogenes on chromosome 21q23, showing expression in a specific region of the hair fiber cuticle.
61 citations
,
May 2016 in “Scientific reports” This study found that IMT-P8, a novel cell-penetrating peptide, effectively facilitated the dermal delivery of proteins and peptides in mouse skin and cell lines, suggesting potential for topical applications in cosmetics and skin diseases.
57 citations
,
January 2013 in “International Journal of Medical Sciences” This study reports that Lef1 plays a crucial role in promoting bulge stem cell differentiation towards hair fate by activating β-catenin and downstream signaling pathways during hair follicle development.
54 citations
,
April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” This review discusses 46,XY disorders of sex development caused by defects in androgen production and highlights the need for long-term care from experienced multidisciplinary teams, but it reports no new clinical findings.
53 citations
,
August 2019 in “American journal of human genetics” This study found that FOXN1 haploinsufficiency is a significant genetic factor causing T cell lymphopenia at birth, linked to reduced thymic function in both humans and mice.
52 citations
,
November 2003 in “Journal of Investigative Dermatology” In this study, mutations in the CDH3 gene were identified as the cause of hypotrichosis with juvenile macular dystrophy, and the researchers observed substantial phenotypic variability among affected individuals.
52 citations
,
October 1999 in “Developmental Dynamics” This study found that the hairless gene in mice has a more extensive role in development than previously thought, as indicated by its expression in various tissues and associated abnormalities in hr/hr mutants.
50 citations
,
September 2016 in “The Journal of Clinical Endocrinology and Metabolism” This study found no evidence of androgen deficiency or decreased peripheral androgen action in men with persistent sexual symptoms after finasteride use, but identified links to depressed mood and abnormal brain function.
50 citations
,
April 2014 in “Nature Communications” This study analyzed skin from 538 knockout mouse mutants and identified 50 with epidermal phenotypes, providing valuable insights into genetic conditions and systemic effects related to skin abnormalities.
47 citations
,
December 2019 in “Biomaterials” This study demonstrated effective delivery of CRISPR/Cas9 components to dermal papilla cells in androgenic alopecia animals using ultrasound-activated nanoparticles, resulting in specific gene editing and hair growth recovery.
47 citations
,
June 2011 in “Movement Disorders” The LRRK2-G2019S mutation in Parkinson's disease has a lifetime penetrance of 25-35%, and finasteride may help reduce symptoms in adult male Tourette syndrome patients.
46 citations
,
May 2011 in “Movement Disorders” This article contains additional supporting information available online but presents no new research findings.
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.
42 citations
,
January 2018 in “Expert review of precision medicine and drug development” This review discusses the integration of drug repurposing with personalized medicine through off-label prescribing and reports no new results, highlighting the potential for systematic exploration using omics technologies.
42 citations
,
January 2007 in “Pediatric dermatology” This report describes an 11-year-old boy with Netherton syndrome who developed Cushing syndrome after using low-potency hydrocortisone ointment extensively, highlighting caution with long-term topical treatments in such conditions.
41 citations
,
June 2006 in “Journal of Investigative Dermatology” This study identified three genes with significantly higher expression in androgen-sensitive beard dermal papilla cells compared to androgen-insensitive scalp cells, suggesting potential novel signaling pathways in hair follicles.
39 citations
,
May 2011 in “Movement Disorders” Finasteride may help reduce symptoms in male Tourette syndrome patients.
35 citations
,
August 2010 in “The American journal of pathology” This study reports that hypomorphic alleles of the Ass1 gene in mice resemble human CTLN1, providing a potential model for preclinical studies and indicating that standard treatments for CTLN1 can rescue phenotypes.