1 citations
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April 2025 in “Pediatria i Medycyna Rodzinna” This research re-analyzed single-cell gene expression data from a mouse model, confirming that certain genes involved in the EDA-EDAR and WNT pathways are crucial for skin appendage development, suggesting that their restoration may mitigate the effects of hypohidrotic ectodermal dysplasia in children.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” This report describes a Cronkhite-Canada syndrome patient with severe sepsis and disseminated intravascular coagulation successfully treated using combined therapies, including recombinant human soluble thrombomodulin.
30 citations
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July 2019 in “Endocrinology” This review discusses how the HSD3B1(1245C) genotype may impact androgen physiology and the progression of castration-resistant prostate cancer, and does not report new experimental results.
November 2024 in “Journal of Investigative Dermatology” Genetic changes in specific proteins contribute to hair loss in some women of African descent.
9 citations
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July 2007 in “Circulation Research” This study found that disruptions in planar cell polarity signaling are implicated in congenital heart defects and cardiomyopathy in developing mouse hearts, associated with early cardiomyocyte disorganization and improper heart looping.
1 citations
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December 2022 in “Plants” This study suggests that CSLD1 is key to nitrogen-dependent root hair elongation and regulation of AMT1;2 expression in rice roots.
October 2018 in “Deep Blue (University of Michigan)” This study found that matrix progenitor cell differentiation in hair growth has distinct early and late phases, and generated a mouse model to explore the hair follicle's role in harlequin ichthyosis.
This study found that the Arabidopsis cation chloride cotransporter CCC1 is critical for regulating pH in the trans-Golgi network/early endosome, impacting plant growth and stress response.
26 citations
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March 2009 in “Dermato-endocrinology” This review discusses the evaluation, clinical presentation, and cutaneous manifestations of congenital adrenal hyperplasia, focusing on differential diagnosis challenges with polycystic ovary syndrome, and reports no new clinical findings.
June 2026 in “Quality in Sport” This study reviewed the current understanding of congenital adrenal hyperplasia from 21-hydroxylase deficiency, highlighting the impact of universal newborn screening in reducing mortality and discussing ongoing treatment challenges and future therapeutic prospects.
This study mapped the curly mutation in mice to a specific region on chromosome 11, identifying it as a candidate model for studying human genetic hair disorders.
17 citations
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January 2015 in “JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH” This report presents a case of Cronkhite-Canada syndrome in an elderly Indian male, adding to the approximately 450 cases documented worldwide, but introduces no new results about the condition.
107 citations
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April 2014 in “The Plant cell” In this study, researchers showed that the CAP1 gene regulates root hair growth in plants by modulating cytoplasmic ammonium levels and maintaining calcium gradients, highlighting its role in ammonium homeostasis.
19 citations
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July 2020 in “EBioMedicine” In this study, the researchers identified a variant in the CCHCR1 gene associated with an alopecia areata subtype characterized by impaired keratinization and autoimmune events.
25 citations
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August 2014 in “Endocrinology” This study created a humanized mouse model of hereditary vitamin D-resistant rickets that lacks alopecia, indicating the mutant receptor's potential to explore the syndrome's characteristics beyond vitamin D binding.
November 2025 in “PubMed” This study identified nine pathogenic variants in the PADI3 gene, and variants in the S100A3 and TCHH genes, which may disrupt protein function and contribute to central centrifugal cicatricial alopecia.
88 citations
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April 2017 in “Journal of Pediatric and Adolescent Gynecology” This review discusses the pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia, but reports no new research results.
11 citations
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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.
4 citations
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February 2019 in “Journal of Cutaneous Pathology” This study suggests that the epigenetic marker 5-hmC may dynamically influence hair follicle bulge activation during anagen growth in mice, warranting further investigation into its role in stem cell regulation.
This study identified the Arabidopsis cation chloride cotransporter CCC1 as essential for regulating pH and function in the trans-Golgi network/early endosome, with its absence causing significant growth and stress response defects.
178 citations
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October 2001 in “Genes & Development” This study found that the mammalian hairless gene encodes a corepressor protein that interacts with thyroid hormone receptors, providing insights into hair loss syndromes in humans and mice.
86 citations
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August 2011 in “Toxicological sciences” In this study, researchers found that TCDD exposure accelerated differentiation and altered gene expression in human epidermal cells, indicating the epidermal barrier as a target of TCDD-activated AHR.
62 citations
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April 2008 in “Neurobiology of aging” This study identified a new genetic locus, ahl4, on distal Chromosome 10 that contributes to the early-onset, severe hearing loss in A/J mice compared to B6 mice.
42 citations
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April 2013 in “Steroids” This review discusses the pathophysiology, molecular genetics, and management of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, with no new clinical findings reported.
20 citations
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November 2019 in “Stem Cells” This study found that deleting the Hes1 gene disrupts hair regeneration by delaying anagen initiation and shortening the anagen phase, suggesting it's crucial for maintaining hair cycle homeostasis.
21 citations
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October 2013 in “Molecular Biology of the Cell” This study found that the protein CCN2 in dermal papilla cells is a physiologically relevant suppressor of hair follicle formation by destabilizing β-catenin, which may help maintain stem cell quiescence.
15 citations
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December 2014 in “PLoS ONE” This study identifies iRhom2 as a crucial regulator of hair follicle differentiation, showing that the iRhom2Uncv mutation leads to dysplasia and reduced TACE maturation, resulting in a hairless phenotype in mice.
37 citations
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October 2006 in “Archives of Biochemistry and Biophysics” This study describes a patient with hereditary vitamin D resistant rickets (HVDRR) who, despite having a truncated vitamin D receptor, did not exhibit typical hair or skin abnormalities, suggesting possible compensation via interactions with other proteins.
September 2012 in “대한피부과학회지” In this study, Dsc 1 was highly expressed in certain layers of fetal epidermis and hair follicle but not in basal cells or oral mucosa, indicating its potential role in maintaining epithelial integrity.
June 2017 in “Mechanisms of development” Hox genes control hair follicle stem cell regeneration in different body regions.