18 citations
,
January 2018 in “BMC dermatology” This paper describes a case of epidermolysis bullosa simplex with muscular dystrophy associated with a novel PLEC mutation and diffuse alopecia, highlighting a potential genetic link that remains uncertain.
15 citations
,
April 2017 in “Hormones” This review discusses the roles of glucocorticoids and glucocorticoid receptors, and it explores potential genetic and non-genetic causes of glucocorticoid resistance or hypersensitivity syndromes, reporting no new clinical results.
13 citations
,
April 2022 in “Journal of Mind and Medical Sciences” This review discusses recent findings on the pathology, diagnosis, and treatment of inflammatory bowel disease and reports no new clinical results.
10 citations
,
March 2024 in “Endocrine Reviews” In this retrospective review, the author discusses key discoveries in understanding androgen excess disorders like PCOS, focusing on genetic and molecular insights gained from 1965 to 2015.
4 citations
,
August 2022 in “Cells” This study found that the lncRNA lncRNA2919 is involved in hair follicle regeneration by downregulating growth-related genes, inhibiting cell proliferation, and promoting apoptosis in rabbit dermal papilla cells.
1 citations
,
August 2024 in “Animals” This study suggests that variations in α-keratin proteins influence the structure and characteristics of wool fibers, indicating that keratin genes could serve as useful markers for identifying different wool traits.
January 2025 in “BMC Genomics” This study examined the role of long non-coding RNAs in wool fineness among Gansu alpine fine-wool sheep, identifying specific lncRNAs and target genes that may enhance wool quality.
August 2024 in “Receptors” This review highlights the crucial role of vitamin D signaling in epidermal stem cells during skin wound healing, emphasizing its distinct functions from calcium metabolism and its importance in genomic regulation mediated by the vitamin D receptor.
June 2023 in “Frontiers in Genetics” This study suggests that the curly hair phenotype in Mangalitza pigs may involve complex gene interactions related to calcium signaling and lipid metabolism, rather than changes in TRPM2 or CYP4F3 expression.
This study found that the survival and proliferation of mouse melanocytes expressing the GNAQQ209L oncogene were impaired by interactions with the epidermal microenvironment, suggesting a possible mechanism for the rarity of these mutations in epidermal melanomas.
March 2026 in “Journal of Personalized Medicine” In this study involving South African breast cancer patients, researchers identified certain genetic variations in cytochrome P450 and other enzymes potentially linked to differences in tamoxifen treatment outcomes, suggesting a need for more comprehensive pharmacogenomic studies to optimize therapy in African populations.
September 2025 in “Animals” In this study, researchers using Astral—DIA proteomics technology identified 67 differentially expressed proteins in Gansu alpine fine-wool sheep, linking proteins like keratin and MGST3 in pathways to wool fineness regulation, particularly highlighting their association with hair follicle development.
March 2025 in “American Journal of Medical Genetics Part A” In this study, researchers found that mosaic PLCD1 hotspot variants, even without the recognized germline "risk allele," may be a rare but significant genetic cause of nevus trichilemmocysticus, warranting DNA testing and sensitive sequencing technologies for accurate diagnosis.
5 citations
,
November 2022 in “Diversity” This review highlights the potential of indigenous southern African foods rich in phytochemicals and soluble dietary fibers to combat cardiovascular disease in economically disadvantaged urban populations in South Africa by improving dietary diversity and affordability.
40 citations
,
June 2013 in “Scientific Reports” This study found an association between a splice site variant in the KRT71 gene and curly hair in Selkirk Rex cats, identifying a significant locus on chromosome B4.
1 citations
,
January 2011 in “Springer eBooks” Histone demethylases play a key role in the development of many diseases and may be targets for treatment.
48 citations
,
January 2011 in “Hormone Research in Paediatrics” This review discusses the molecular basis and clinical implications of primary generalized glucocorticoid resistance and hypersensitivity, attributing them to mutations in the human glucocorticoid receptor gene, and reports no new clinical findings.
22 citations
,
April 2006 in “Journal of Dermatological Science” This study reports that versican expression plays a crucial role in maintaining the anagen phase and hair inductive properties, as shown in a transgenic mouse model and hair growth assays.
17 citations
,
August 2012 in “Journal of Medical Genetics” This article reviews the genetic mutations associated with hypohidrotic ectodermal dysplasia and reports no new clinical results; the authors highlight the roles of EDA gene isoforms and related receptors.
14 citations
,
October 2021 in “Dermatology and Therapy” This study found that photoexposure significantly increased the gene expression of altered elastin, MMP12, and LOX, as well as the protein expression of tropoelastin and fibrillin-1, in skin models.
165 citations
,
September 2001 in “Genes & development” This study found that Cutl1 mutant mice experienced retarded lung differentiation and abnormal hair follicle morphogenesis, indicating the vital role of CDP in lung development and hair follicle cell-lineage specification.
160 citations
,
January 2017 in “Development” This study found that hypertrophic chondrocytes at the fracture callus border may convert to osteoblasts, influenced by vasculature and pluripotency gene expression.
120 citations
,
February 2009 in “Apoptosis” This review examines apoptotic and anti-apoptotic mechanisms in skin homeostasis and related diseases but presents no new research findings.
94 citations
,
April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” This study describes the first case of female pseudohermaphroditism due to a novel homozygous glucocorticoid receptor gene mutation, indicating possible pre- and postnatal virilization in affected females.
86 citations
,
October 2005 in “Experimental Dermatology” This review explores the role of Foxn1 in mammalian skin biology, discussing its influence on hair follicle function and the potential for further research to enhance understanding of epithelial differentiation.
64 citations
,
July 2016 in “Cold Spring Harbor Perspectives in Medicine” The p53 protein has complex, sometimes contradictory functions, including tumor suppression and promoting cell survival.
62 citations
,
August 2014 in “BMC Endocrine Disorders” This review summarizes the recent advances in molecular mechanisms influencing tissue sensitivity to glucocorticoids, emphasizing novel mutations and new information on the glucocorticoid receptor's circadian rhythm and ligand-induced repression, but reports no new results.
50 citations
,
January 2016 in “The FEBS journal” This review discusses the various roles of RANK signaling in bone remodeling, immune function, and epithelial differentiation, highlighting its potential involvement in cancer mechanisms; it reports no new clinical results.
39 citations
,
January 2020 in “Scientific Reports” This study identified four circRNAs with significantly different expression levels in Liaoning cashmere goats, suggesting a potential role in regulating cashmere fineness.
30 citations
,
January 2009 in “Nuclear Receptor Signaling” This study identified the Hairless (Hr) gene-encoded protein as a corepressor that plays a crucial role in maintaining skin and hair by regulating epithelial stem cell differentiation and gene expression via chromatin remodeling, which may impact both development and disease.