27 citations
,
December 2013 in “Endocrinology” This study established a mouse model for Cushing's syndrome due to a specific Crh mutation, which may help explore the effects of glucocorticoid excess and evaluate treatments for corticosteroid-induced osteoporosis.
75 citations
,
October 2010 in “Mammalian genome” In this study, specific genetic polymorphisms in the KRT71 gene were associated with hairless and curly phenotypes in Sphynx and Devon Rex cats.
6 citations
,
August 2020 in “JCRPE” This report presents a case of familial male-limited precocious puberty with a novel LHCGR gene mutation, where a boy responded well to treatment with bicalutamide and anastrozole.
556 citations
,
September 2008 in “Genes & Development” This review summarizes how genetic studies using conditional β-catenin loss- and gain-of-function mice have advanced understanding of canonical Wnt signaling's role in embryonic development, adult stem cell maintenance, and cancer modeling.
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.
3 citations
,
March 2010 in “Dermatologica Sinica” This study reports the first case of atrichia with papular lesions in a Taiwanese family without a detectable mutation in the HR gene.
September 2023 in “HAL (Le Centre pour la Communication Scientifique Directe)” In this study, peptide-based nanoparticles were successfully used to deliver the CRISPR-Cas9 system into cancer cells, effectively targeting and editing KRAS mutations, suggesting promising therapeutic potential for cancer treatment.
46 citations
,
May 2020 in “Cureus” This review analyzes the molecular and genetic roles of zinc, its connection to diarrheal disease, dietary recommendations, and the impacts of zinc deficiency on health, but reports no new data.
December 2025 in “Al-Iraqia Medical College Journal” This study explored the relationships between virus susceptibility to infection and several factors, finding that higher heat tolerance and larger virus size correlated positively with infection susceptibility, while high humidity and higher mutation rates correlated inversely among eight RNA viruses, including SARS-CoV-2 and influenza.
27 citations
,
February 2017 in “Clinical, Cosmetic and Investigational Dermatology” In this study, a topical formulation with compounds from the monoterpenoid family significantly improved hair growth indicators like anagen:telogen ratio, hair fall, and visual hair density in men and women with pattern hair loss.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.
November 2005 in “Nature Reviews Molecular Cell Biology” In this study, researchers discovered that the interaction between the hairless protein and the wise protein is crucial for hair-follicle regeneration, helping bald mice regrow fur.
84 citations
,
January 2008 in “Cold Spring Harbor Symposia on Quantitative Biology” This article reviews recent advancements in understanding skin stem cells and their roles in maintaining epidermal homeostasis and repairing wounds, without presenting new experimental findings.
83 citations
,
October 1998 in “The American Journal of Human Genetics” A specific gene mutation causes complete hair loss in an Irish Traveller family.
74 citations
,
September 2006 in “Cell Cycle” This review examines the role of Hairless, a nuclear receptor corepressor, in regulating Wnt signaling during hair cycling and reports no new clinical results.
34 citations
,
July 2020 in “American journal of human genetics” This study identified mutations in the SREBF1 gene that impair SREBP1 function, potentially contributing to IFAP syndrome by affecting skin, hair, and eye development.
26 citations
,
July 2012 in “Biochimica et Biophysica Acta (BBA) - General Subjects” This review discusses the identification and roles of different epidermal stem cell types in skin homeostasis and repair, and reports no new experimental findings.
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.
1 citations
,
October 2025 in “International Journal of Molecular Sciences” This study found that zebrafish with a mutation in the GDP-fucose biosynthesis gene exhibited enhanced and faster regeneration of mechanosensory hair cells, implicating the importance of this gene and Notch signalling regulation in hair cell regeneration mechanisms.
5 citations
,
September 2018 in “International journal of genomics” This study found that keratin damage in mammals and birds can result from N-homocysteinylation, reducing keratin solubility and indicating significant protein modification through genetic or nutritional disruptions in homocysteine metabolism.
43 citations
,
June 2018 in “Clinics in dermatology” This review discusses the variety of skin disorders associated with atopic dermatitis, exploring their complex relationships and shared genetic and environmental factors, but reports no new clinical results.
6 citations
,
July 2011 in “British Journal of Dermatology” This paper reports a case of sebaceous carcinoma developing at the site of chronic candidiasis in a patient with keratitis–ichthyosis–deafness syndrome, without presenting new generalizable findings.
December 1991 in “Annals of the New York Academy of Sciences” This article discusses themes in the molecular structure of hair and reports no new research findings.
January 2007 in “Revista del Centro Dermatológico Pascua” This review discusses female androgenic alopecia, highlighting its potential difference from male androgenic alopecia and notes increased incidence, but reports no new clinical findings.
119 citations
,
November 2016 in “American journal of human genetics” This study reports the discovery of mutations in the PADI3, TGM3, and TCHH genes as molecular genetic causes of uncombable hair syndrome in children, indicating an autosomal-recessive inheritance pattern.
119 citations
,
November 2014 in “Trends in Cell Biology” This review discusses the mechanisms and pathways of FGFR signalling and its roles in development, disorders, and therapeutic targeting, but reports no new clinical results.
87 citations
,
March 2017 in “Journal of Clinical Investigation” In this study, researchers identified PSENEN mutations that can lead to a form of Dowling-Degos disease, characterized by follicular hyperkeratosis and an increased susceptibility to acne inversa, especially in the presence of certain trigger factors.
85 citations
,
August 2015 in “Journal of Applied Genetics” This review discusses recent insights into the molecular mechanisms of hypohidrotic ectodermal dysplasia linked to TNFα-related signaling pathway mutations but reports no new experimental results.
78 citations
,
October 2020 in “Experimental Dermatology” This review summarizes 15 years of clinical and experimental research advancements in hidradenitis suppurativa, highlighting its recognition as a uniquely healable inflammatory skin disease but reports no new clinical results.
62 citations
,
March 2017 in “Journal of Investigative Dermatology” Mutations in the ACTB gene cause Becker’s nevi and may lead to muscle issues in Becker’s nevus syndrome.