82 citations
,
March 2012 in “Development” This study found that deleting the miRNA processing enzymes Drosha and Dicer from mouse skin epithelial cells disrupted normal hair follicle development and maintenance, leading to follicular degradation and stem cell loss during the growth phase.
277 citations
,
July 2002 in “Molecular Endocrinology” In this study, homozygous VDR null mutant mice exhibited nonfunctional vitamin D receptors, leading to growth abnormalities and revealing the limited physiological importance of vitamin D pathways outside the classical receptor.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a novel G207E STING mutation causing a distinct phenotype involving alopecia, photosensitivity, and thyroid dysfunction, and suggests that common polymorphisms in TMEM173 and IFIH1 may influence disease presentation.
51 citations
,
August 2013 in “The Journal of experimental medicine/The journal of experimental medicine” This study found that Wnt secretion is important for maintaining skin homeostasis in mice, as Evi-deficient mice developed psoriasis-like skin lesions and had an imbalance in immune cell populations.
188 citations
,
May 2009 in “Plant physiology” This study identified 19 specific genes involved in root hair growth and morphogenesis in Arabidopsis, using a combination of computational and experimental methods.
7 citations
,
May 2019 in “European Journal of Human Genetics” This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.
3 citations
,
May 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified loss of function variants in the HR gene as likely causes of the distinct roaning hair coat seen in lykoi cats.
February 2020 in “Biophysical journal” This study confirms that zebrafish engineered with Cantú Syndrome mutations in ABCC9 and KCNJ8 genes exhibit gain-of-function characteristics in their cardiovascular KATP channels, similar to mammalian counterparts.
139 citations
,
September 2001 in “The journal of investigative dermatology/Journal of investigative dermatology” This case report describes a patient with mutations in both alleles of the vitamin D receptor who exhibited hair loss clinically indistinguishable from generalized atrichia with papules, suggesting a potential genetic pathway shared with the hairless gene.
27 citations
,
November 2007 in “Genomics” This study found that mutations in type I IRS keratin genes disrupt keratin protein complexes in mice, suggesting crucial roles for these genes in proper hair coat formation.
9 citations
,
August 2021 in “International journal of molecular sciences” This study found that loss of epidermal PPARγ in mice altered the expression of many genes related to skin inflammation, keratinization, and sebaceous gland function, indicating its key role in maintaining skin homeostasis.
3 citations
,
January 2021 in “Molecular genetics & genomic medicine” In this study, novel mutations in the BTD gene were identified in a patient with profound biotinidase deficiency, highlighting the importance of biotinidase activity measurement and mutation analysis for early diagnosis.
4 citations
,
December 2021 in “Journal of clinical laboratory analysis” This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
2 citations
,
September 2020 in “Schweizer Archiv für Tierheilkunde” This study found that Swiss cattle exhibiting rat-tail syndrome are heterozygous for genetic variants linked to pigmentation and color dilution, likely due to Holstein introgression in the Simmental breed.
405 citations
,
May 2007 in “Journal of The American Academy of Dermatology” This review discusses the profound impact of obesity on skin physiology and dermatologic conditions and reports no new experimental results, recommending awareness and treatment strategy development for obesity-associated dermatoses.
40 citations
,
December 2012 in “PLoS ONE” This study found that selective deletion of Ctip2 in epidermal keratinocytes in adult mice leads to atopic dermatitis-like inflammation and suggests Ctip2 plays a crucial role in skin barrier maintenance and inflammatory regulation.
199 citations
,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
28 citations
,
July 2007 in “Development” In this study, inactivating the TAF4 subunit of transcription factor TFIID in mouse epidermis disrupted gene expression linked to skin and hair function, and increased tumor risk.
26 citations
,
October 2002 in “Journal of Investigative Dermatology” This study identifies a mutation in the hairless gene that may impact thyroid receptor interaction, contributing to alopecia universalis congenita in an Arab Israeli patient.
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.
10 citations
,
December 2015 in “Clinics in Dermatology” This review highlights the eye and skin manifestations of endocrine-related metabolic diseases but provides no new clinical results.
1 citations
,
May 2001 in “Pharmacology & Toxicology” This review discusses the preclinical findings on cyproterone acetate and suggests that while it has a low potential cancer risk for patients, its tumor effects in female rats may involve both genotoxic and mitogenic mechanisms.
April 2016 in “Journal of Investigative Dermatology” Mutations in the TSPEAR gene cause a new form of ectodermal dysplasia affecting hair and tooth development.
April 2021 in “Journal of Investigative Dermatology” Krox20 is crucial for hair growth and maintaining skin stem cells.
38 citations
,
June 2019 in “International Journal of Molecular Sciences” This review discusses the potential role of extracellular vesicles in modulating hair follicle dynamics and reports no new clinical results; future investigations may inform treatment strategies for skin disorders.
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.
May 2018 in “European Journal of Dermatology” The first Japanese family with Marie Unna hereditary hypotrichosis showed hair condition improvement in a child and highlighted the risk of misdiagnosis.
May 2014 in “JAMA Dermatology” Mother and son diagnosed with a rare genetic hair loss condition with no effective treatment.
8 citations
,
June 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study provides definitive evidence that a homozygous mutation in the DSC3 gene causes skin fragility and hypotrichosis in humans.
223 citations
,
January 2014 in “International Journal of Molecular Sciences” This article reviews the complex signaling pathways between epithelial and mesenchymal cells crucial for hair follicle morphogenesis, highlighting the Wnt pathway's role as a master regulator without reporting new experimental findings.