153 citations
,
April 1998 in “Current Biology” This study found that benign tumors with a high risk of malignant progression primarily arise from hair follicle cells when a mutant ras gene is expressed in a specific population of epidermal cells in mice.
30 citations
,
June 2016 in “Journal of Human Genetics” This study found pathogenic mutations in genes EDA, EDA1R, and EDARADD in 101 out of 124 hypohidrotic ectodermal dysplasia patients, revealing 23 novel mutations and indicating genetic variability.
In this study, researchers developed de novo designed hetero-bifunctional proteins as an alternative approach for targeted protein degradation, successfully targeting BCL-xL for degradation in cells and inducing apoptosis, which may expand the range of addressable E3 ligases and disease targets.
October 2024 in “Journal of the Endocrine Society” This study examined uncharacterized CYP21A2 gene variants related to non-classic congenital adrenal hyperplasia and found that several mutations reduce enzyme activity, which may help improve diagnostic and treatment strategies.
May 2009 in “OPAL (Open@LaTrobe) (La Trobe University)” In this study, a transgenic mouse model suggested that suppressing the expression of the HGPS mutation may reverse disease symptoms, including skin abnormalities, supporting the potential for treatment development.
11 citations
,
March 2014 in “Journal of Investigative Dermatology” In this study, basal cell carcinoma developed in Ptch-deficient mice only after chemical treatment, not skin wounding, suggesting a second unknown event is necessary for tumor formation.
68 citations
,
August 2009 in “American Journal of Medical Genetics Part A” This study systematically reviewed clinical findings in trichothiodystrophy patients and suggested a new clinico-genetic classification to help better understand the ichthyotic phenotype and its management.
1 citations
,
August 2015 in “AACE Clinical Case Reports” This case report identifies a novel AR gene mutation in an adolescent with primary amenorrhea, suggesting that CAIS should be considered when evaluating patients with a female phenotype and breast development.
3 citations
,
October 2022 in “Nano Letters” This study found that a microneedle patch using manganese thiophosphite showed greater hair regrowth potential compared to minoxidil, even with less frequent application, for treating androgenetic alopecia.
December 2009 in “Cancer Research” This study suggests that over-expression of Sp2 may limit stem cell differentiation and contribute to tumorigenic cell growth in mice.
30 citations
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January 2013 in “Human Mutation” This study identified a homozygous frameshift mutation in the HOXC13 gene associated with pure hair and nail ectodermal dysplasia in a consanguineous Syrian family, suggesting crucial roles for HOXC13 in hair and nail development.
November 2012 in “Experimental and Clinical Endocrinology & Diabetes” This case report describes a 46,XY female patient with a novel homozygous nonsense mutation in the LHCGR gene, highlighting the need for molecular analysis in disorders of sexual development.
April 2024 in “Frontiers in microbiology” This study found that certain gut microbiota are linked with androgenetic alopecia, identifying both risk and protective microbial factors, which could inform targeted probiotic strategies for managing AGA.
1 citations
,
January 2015 in “Elsevier eBooks” This review discusses the potential antiandrogenic effects of environmental chemicals on reproductive development, highlighting concerns about their impacts on humans but reports no new clinical findings.
14 citations
,
February 1991 in “FEBS Letters” This study found that introducing rat ornithine transcarbamylase gene into spf-ash mice improved liver and intestinal enzyme activity and normalized some metabolic indicators.
37 citations
,
January 2009 in “Sexual Development” This study found that chronic exposure to fadrozole or finasteride during frog development induced intersex individuals, which displayed different gene expression profiles depending on the chemical used.
33 citations
,
February 2012 in “British Journal of Dermatology” This study found significant changes in gene expression related to skin structure and signaling pathways in AEC syndrome skin, offering new insights into the syndrome's molecular underpinnings.
6 citations
,
May 2016 in “Experimental Dermatology” This study by Flores and colleagues found that the type of tumor that develops in a specific subset of epidermal stem cells is influenced by which tumor suppressor gene is deleted.
3 citations
,
August 2000 in “Anatomia Histologia Embryologia” In this study, prenatal exposure to a non-teratogenic dose of all-trans-retinoic acid showed no adverse effects on vibrissal follicle development in NMRI mice.
9 citations
,
June 2000 in “Journal of The American Academy of Dermatology” This study reported that heterozygous carriers of a mutation in the human hairless gene did not differ from healthy homozygotes in the pattern of androgenetic alopecia.
June 2026 in “Reproductive Biology” September 1999 in “Molecular Carcinogenesis” This study reported that overexpressing ornithine decarboxylase in C57Bl/6 mice increased their sensitivity to tumor promotion by TPA, a change reversible by doxycycline treatment.
November 2013 in “Institutional Repositories DataBase (IRDB)” In this study, γ-ray irradiation in mice during the first telogen phase led to decreased hair follicle density and pigmentation anomalies, suggesting damage to stem cells and progenitors for keratinocytes and melanocytes.
December 2014 in “Tesis Doctorals en Xarxa (Consorci de Serveis Universitaris de Catalunya)” In this study, researchers found that overexpressing SOX2 in colorectal cancer cell lines can cause DNA damage and cell death, while repressing it reduces tumor growth and cell aggressiveness.
December 2009 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” This study found that in keratin 14-targeted transgenic mice, BMP antagonism via noggin led to the development of hair follicle tumors, mediated through alterations in Wnt and Shh signaling pathways.
138 citations
,
January 2004 in “AIDS” This review discusses the role of mitochondria and evaluates methodologies for assessing mitochondrial function and toxicity, particularly in the context of HIV and antiretroviral treatments, but it reports no new empirical findings.
August 2023 in “Research Square (Research Square)” This study found that among patients with inflammatory bowel disease, those with the NUDT15 mutation had a reduced tolerance for thiopurine dosage over the long term and were more likely to require hospitalization and surgery compared to those without the mutation.
6 citations
,
December 2023 in “Journal of Molecular Cell Biology” In this study, Gsdma1/2/3 knockout mice showed reduced epidermal hyperplasia and inflammation when induced by PMA, which was attributed to decreased EGFR-Stat3/Akt signaling due to a decrease in related ligands.
August 2012 in “Nature Cell Biology” This study provides direct evidence that the Wnt-β-catenin pathway promotes TERT expression in stem and cancer cells, linking tumorigenesis with pluripotency.
April 2023 in “Journal of Investigative Dermatology” This study found that in a mouse model of Gorlin syndrome, constitutive activation of signaling in dermal cells led to abnormal follicular growth, indicating non-epidermal factors may contribute to the disease.