24 citations
,
July 2017 in “Structure” In this study, researchers found that ligand homodimerization controls the receptor binding specificity of the FGF9 subfamily, preventing off-target activation of FGFR "b" isoforms.
1 citations
,
July 2016 in “Elsevier eBooks” Understanding skin structure and development helps diagnose and treat skin disorders.
2 citations
,
November 2011 in “InTech eBooks” This article reviews the types and characteristics of adrenal cortex tumors, including their hormone secretion and detection as incidental findings, but presents no new research results.
132 citations
,
August 2012 in “Biochimica et Biophysica Acta (BBA) - General Subjects” This review discusses the roles of TGF-β family signaling in regulating normal and cancer stem cells and highlights the need for further research to develop potential cancer treatments; it reports no new results.
52 citations
,
October 2012 in “Journal of Dermatological Science” This review presents updated tables of mouse mutants with hair growth abnormalities to aid in understanding the molecular mechanisms of human hair disorders, but reports no new clinical results.
39 citations
,
May 2011 in “Human Immunology” This review discusses findings from genetic studies on acne, highlighting progress in understanding its molecular pathogenesis without reporting new clinical results.
24 citations
,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
22 citations
,
September 2003 in “Journal of Investigative Dermatology” This study analyzed patients with X-linked dominant chondrodysplasia punctata and identified novel mutations in the emopamil-binding protein gene, highlighting the need for genetic testing alongside biochemical analysis for accurate diagnosis.
9 citations
,
March 2015 in “International reviews of immunology” This review discusses the relationship between ectodermal alterations and immunodeficiencies, particularly the roles of hyper-IgE syndrome, ectodermal dysplasia, and FOXN1 gene mutations, but it presents no new research findings.
7 citations
,
May 2020 in “Trends in molecular medicine” This study explored the immune environment of the hair follicle's bulge region and suggested that its unique signaling may prevent melanoma formation by lacking necessary proinflammatory signals for full oncogenic transformation, indicating potential strategies for melanoma prevention by replicating this immune-privileged environment.
2 citations
,
April 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This article discusses the MendelVar webserver, which integrates Mendelian disease data with GWAS findings to prioritize candidate genes for complex traits and reports no new experimental results.
2 citations
,
April 2010 in “The Open Dermatology Journal” This review discusses the development and role of corneodesmosin in skin and hair follicle integrity, highlighting findings from mouse models and its connection to genetic diseases, with no new experimental results included.
1 citations
,
October 2023 in “Heliyon” In this study, the researchers reported a new case of Hutchinson-Gilford progeria syndrome with a novel LMNA mutation and successful surgical intervention for airway obstruction.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
December 2016 in “British Journal of Dermatology” The meeting highlighted the importance of genetic testing and multidisciplinary approaches in pediatric dermatology.
January 1995 in “Adolescent and pediatric gynecology” This article reviews genetic and phenotypic aspects of androgen insensitivity syndromes, emphasizing the diversity of mutations that complicates molecular screening and the importance of genotype-phenotype correlations.
17 citations
,
March 2012 in “The Journal of Pathology” This article argues that lineage labeling with genetic markers is the gold standard for identifying epithelial stem cells, contrary to the view that in vitro methods alone are sufficient.
14 citations
,
May 2022 in “Cell Reports” In this study, researchers found that basal cell carcinomas with common Hedgehog signaling mutations may require additional mutations to hyperactivate downstream signaling and progress beyond dormancy.
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.
28 citations
,
December 1997 in “Journal of Biological Chemistry” This study found that the hHa1-t protein variant, caused by a genetic polymorphism in the hHa1 gene, forms functional keratin filaments despite lacking a complete nonhelical tail domain, explaining the absence of a pathological hair phenotype.
13 citations
,
February 2010 in “Stem Cell Reviews and Reports” Stem cells compete for space using cell adhesion, and mutations can affect their competitive success, with implications for tissue health and disease.
7 citations
,
March 2022 in “Scientific reports” In this study, researchers found that pigs with genetically disrupted ANTXR1 were resistant to Senecavirus A infection, showing no clinical symptoms, and provided a model for human GAPO syndrome, while confirming ANTXR1 as a receptor for the virus.
June 2025 in “Proceedings of the National Academy of Sciences” In this study, a mouse model with a PIK3CA gain-of-function mutation in Schwann cells revealed unique communication with neighboring cells and a glycolytic shift in peripheral nerves, and early alpelisib treatment significantly improved symptoms, though efficacy declined with delayed administration due to limited drug penetration.
303 citations
,
October 2000 in “Nature” This study found that RXRα plays a critical role in hair cycling and keratinocyte functions in mice, likely through its interaction with VDR in epidermal cells.
22 citations
,
December 2015 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mice with a mutation in the Zdhhc13 gene exhibited increased susceptibility to skin cancer, highlighting a potential protective role of palmitoyl acyltransferase in skin carcinogenesis.
29 citations
,
February 2022 in “Frontiers in Cell and Developmental Biology” This review discusses strategies to improve CRISPR/Cas systems by addressing limitations like off-target effects and delivery inefficiencies, offering practical guidance and highlighting future applications, but reports no new research findings.
18 citations
,
January 2015 in “Experimental Dermatology” This study reports new monilethrix cases in Venezuela, the Netherlands, Belgium, and France, expanding the known mutational spectrum of the disorder with novel mutations in KRT81, KRT83, and KRT86 genes.
May 2025 in “Proceedings of the National Academy of Sciences” In this study, researchers found that the histone demethylase UTX is crucial for regulating skin differentiation through retinoic acid signaling, mainly impacting females, as males compensate with a Y-linked paralog.
10 citations
,
February 2022 in “Cancers” This review discusses managing prostate cancer in patients with high-risk germline mutations and highlights the need for more research and consensus guidelines, reporting no new clinical results.
24 citations
,
September 2023 in “Science Advances” In this study, deleting the gene Mettl3 in mouse epidermal progenitors resulted in impaired epithelial development and self-renewal, highlighting m6A's crucial role in regulating chromatin modifiers and maintaining normal epithelial tissue function.