403 citations
,
November 2005 in “Journal of Endocrinology” This review discusses the role of DHEA in intracrinology, highlighting its impact on breast and prostate cancer treatment and potential as a menopause therapy, but reports no new research findings.
211 citations
,
April 2018 in “Cold Spring Harbor Perspectives in Biology” Keratins are crucial for cell structure, growth, and disease risk.
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.
134 citations
,
January 2019 in “American journal of clinical dermatology” This review summarizes recent research on the skin microbiome's role in acne development and how antibiotic treatments affect skin microbes, but it reports no new clinical results.
122 citations
,
June 2002 in “Genes & Development” This study found that K17 is crucial for the structural integrity and survival of hair-producing cells, with K17 null mice developing alopecia due to hair fragility and follicular alterations.
119 citations
,
October 2011 in “Journal of Veterinary Internal Medicine” This review discusses the clinical manifestations and immune response to Rhodococcus equi infection in foals but reports no new clinical results.
94 citations
,
July 2020 in “European Journal of Human Genetics” This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.
87 citations
,
July 2009 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that beard hair medulla cells express an unexpected range of keratins, showing variability and promiscuous behavior in keratin interactions distinct from other hair follicle cells.
71 citations
,
August 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This study revealed that human keratin-associated protein genes are expressed in specific patterns in hair fiber regions and vary in size, with some variations distinct across different populations.
70 citations
,
January 2014 in “International review of cell and molecular biology” This review discusses the role of keratins in maintaining epidermal structure and function and reports no new results; the authors emphasize the lack of rational therapies for skin disorders linked to keratin mutations.
54 citations
,
November 2015 in “Methods in enzymology on CD-ROM/Methods in enzymology” This chapter reviews keratins in skin epithelia, including their roles in cellular function and disease, and reports no new experimental results.
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.
35 citations
,
May 2019 in “Frontiers in genetics” This study reported that specific non-coding RNAs may regulate the hair follicle cycle in Angora rabbits by acting as competitive endogenous RNAs, enhancing understanding of ncRNA roles in hair growth.
24 citations
,
June 2012 in “BMC Research Notes” This study outlines the Human Gene Correlation Analysis tool, which classifies human genes by coexpression levels and identifies overrepresented annotation terms in correlated gene groups, with no new clinical results reported.
20 citations
,
August 2017 in “PLoS ONE” This study identified and updated the annotation of 61 keratin genes in dogs and horses, improving the genome annotation in these species through RNA-seq data comparison.
15 citations
,
March 2014 in “Biochimica and biophysica acta. Molecular and cell biology of lipids” This review discusses the role of acyl-CoA binding protein (ACBP) in the epidermal barrier, noting that its disruption in mice is linked to skin and fur abnormalities; it reports no new clinical results.
14 citations
,
April 2014 in “International Journal of Cosmetic Science” This article discusses the multifactorial etiopathogenesis of acne vulgaris, highlighting the roles of sebum production, keratosis, bacterial development, and inflammatory mediators, but reports no new clinical results.
13 citations
,
October 2010 in “Pharmacogenomics” This study constructed a panel of pharmacokinetic and pharmacodynamic genes, revealing that current SNP chips insufficiently capture many drug-response gene variants, highlighting the need for complementary genetic approaches.
9 citations
,
April 2023 in “Frontiers in immunology” This review discusses the current and emerging methods for profiling skin microbes to advance our understanding of the microbiome in skin disease, but it reports no new clinical findings.
8 citations
,
December 2020 in “Scientific reports” This study examined the genetic basis for the curly hair trait in Mangalitza pigs, finding two specific genetic variants that contribute to this distinctive phenotype through autosomal dominant inheritance.
8 citations
,
March 2020 in “Frontiers in Cell and Developmental Biology” This study developed a DPC cell line by introducing mutant CDK4, Cyclin D1, and TERT, making it a promising tool to study downstream signaling pathways activated by testosterone in androgenetic alopecia.
5 citations
,
August 2013 in “InTech eBooks” This article reviews the role of KLF4, a transcription factor, in various cellular processes and its dual function as a tumor suppressor or oncogene depending on the context, but presents no new experimental results.
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.
3 citations
,
February 2025 in “Journal of PHYSIOLOGICAL ANTHROPOLOGY” This systematic review and meta-analysis found 30 genetic loci associated with skin ageing phenotypes, noting shared biological pathways in aspects like pigmentation and wrinkling; researchers suggest further studies targeting the same SNP across populations could clarify these associations.
3 citations
,
October 2023 in “Frontiers in physiology” This study reviewed competing endogenous RNA networks related to skin aging and wound healing, finding mechanisms like UVB-induced senescence and photoaging, as well as potential therapeutic targets for improving skin health and recovery.
3 citations
,
June 2022 in “European journal of human genetics” This study reports the first cases of recessive KRT17-related pachyonychia congenita involving all ectodermal derivatives in seven members of two consanguineous Pakistani families.
3 citations
,
March 2020 in “International Journal of Molecular Sciences” This study found that overexpressing the gene Thymosin β4 (Tβ4) can promote the growth and development of secondary hair follicle dermal papilla cells in cashmere goats, suggesting its potential as a target for increasing cashmere production.
3 citations
,
June 2017 in “Methods” This study used computational modeling to identify key genes and miRs involved in cardiac aging, finding a strong relationship supported by literature and some experimental validation in aged mouse hearts.
2 citations
,
January 2002 in “Hormone Research in Paediatrics” This review discusses molecular testing for endocrine diseases, highlighting its diagnostic benefits and potential for prevention, particularly in conditions like multiple endocrine neoplasia type 2 and adrenogenital syndrome, but reports no new clinical results.
1 citations
,
January 2016 in “Medicinski glasnik Specijalne bolnice za bolesti štitaste žlezde i bolesti metabolizma” This article discusses congenital adrenal hyperplasia due to 21 hydroxylase deficiency as a cause of ambiguous genitals in 46XX individuals and reports no new research findings.