14 citations
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September 2018 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” In this study, a novel homozygous mutation in the STAT5B gene was identified in a 17-year-old boy with growth hormone-refractory growth failure, severe eczema, and autoimmune disease, suggesting a similarity to known STAT5B deficiency phenotypes.
10 citations
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September 2015 in “PLoS ONE” This case report documents a female toddler with novel compound heterozygous mutations in the VDR gene causing hereditary 1,25-dihydroxyvitamin D-resistant rickets, expanding the known mutation spectrum for this disease.
10 citations
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March 2015 in “Journal of dermatology” This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.
7 citations
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January 2014 in “Biological & pharmaceutical bulletin” This study found that rice bran oil extracted by supercritical CO2 can be considered non-genotoxic based on in vitro and in vivo test results, despite some chromosomal aberrations observed under specific conditions.
6 citations
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April 2013 in “Journal of Investigative Dermatology” This study reports that spironolactone use was associated with a decreased risk of developing rosacea compared to other diuretics, particularly in current users without previous androgenic skin disease diagnoses.
4 citations
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December 2012 in “Human Biology” In this study, researchers found that two dominant haplotypes in the EDA2R/AR intergenic region have likely been shaped by demographic changes and selection during human evolution, particularly notable in African and non-African populations.
3 citations
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July 2021 in “Life science alliance” This study observed that disrupting the Pnkp gene in adult mice resulted in a premature aging-like phenotype, suggesting PNKP's vital role in maintaining normal growth and survival of certain progenitor cell populations.
3 citations
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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.
3 citations
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January 2019 in “Jikken doubutsu ihou/Jikken doubutsu/Experimental animals/Jikken Dobutsu” This study reported that knocking out the HR gene in pigs using CRISPR/Cas9 led to hairless eyelids and abnormalities in the thymus and peripheral blood, suggesting pigs as a model for human HR-related hair disorders.
1 citations
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May 2019 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In this study, a novel VDR gene mutation was identified in a child with HVDRR, and the researchers observed that high-dose intravenous calcium therapy led to significant and sustained improvement in rickets symptoms.
1 citations
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September 2011 in “Journal of Dermatology” This letter reports a woman with nevoid basal carcinoma syndrome and pronounced androgenic alopecia associated with a novel PTCH gene mutation p.Leu1159fsx32, suggesting a genetic link in this case study.
1 citations
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January 2011 in “Springer eBooks” Histone demethylases play a key role in the development of many diseases and may be targets for treatment.
December 2025 in “Frontiers in Medicine” This review details the global mutation patterns of genes associated with autosomal recessive woolly hair/hypotrichosis and highlights potential, yet unproven, treatments like minoxidil and regenerative therapies, reporting no new clinical results.
July 2025 in “Scientific Reports” In this study, researchers identified six novel prognostic biomarkers for bladder cancer and developed a predictive model that effectively stratifies patients into high-risk and low-risk groups based on immune cell infiltration differences and gene expression.
March 2024 in “Frontiers in medicine” In this nonrandomized controlled trial, tenon capsule injection of platelet-rich plasma improved capillary perfusion and may enhance short-term vision in patients with acute nonarteritic anterior ischemic optic neuropathy.
November 2016 in “Elsevier eBooks” This chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.
2295 citations
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August 2012 in “The international journal of transgenderism/International journal of transgenderism” This publication reviews the World Professional Association for Transgender Health's Standards of Care for supporting transgender and gender nonconforming people, with adjustments needed for diverse global contexts and no new clinical results.
1533 citations
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October 2008 in “Endocrine reviews” This research highlights that engineered mice lacking the vitamin D receptor show multiple health issues similar to human vitamin D deficiency, underscoring the widespread impacts of the vitamin D endocrine system.
1160 citations
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November 2018 in “Physiological Reviews” This review discusses the potential of single cell technologies to improve understanding and treatment of impaired wound healing and reports no new clinical results.
556 citations
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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.
555 citations
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July 2001 in “Genes & Development” This study found that Tcf3 and Lef1 differently regulate cell differentiation in multipotent skin stem cells, with Tcf3 promoting follicle-like features and Lef1, when modified, promoting sebocyte differentiation.
510 citations
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August 2006 in “Endocrinology” This minireview discusses a proposed model of the vitamin D receptor that explains how 1alpha,25(OH)2D3 can mediate both genomic and rapid responses through different ligand shapes and cellular locations, without presenting new research findings.
277 citations
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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.
251 citations
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October 2014 in “The Journal of Clinical Endocrinology & Metabolism” The guidelines advise against using testosterone and DHEA in women for most conditions due to safety and effectiveness concerns, but suggest considering testosterone for postmenopausal women with low sexual desire.
245 citations
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January 2018 in “Bone Research” This review discusses the role of TGF-β signaling in stem cell recruitment and tissue regeneration, indicating that abnormalities in TGF-β activation contribute to various major diseases and suggesting avenues for therapeutic intervention.
207 citations
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January 2011 in “Dermatologic Therapy” This article discusses the factors involved in optimizing laser hair removal, emphasizing patient selection, laser safety, and understanding laser–tissue interactions, but presents no new clinical findings.
184 citations
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September 2006 in “PLoS Genetics” This study found that loss of Apc due to K14-cre-mediated gene recombination in mice led to aberrant growth in ectodermally derived squamous epithelia, implicating its critical role in specifying epithelial cell fates during embryonic development.
168 citations
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August 2000 in “American Journal of Pathology” This study suggests that fibromodulin may regulate transforming growth factor-β activity during scar formation, influencing the transition from fetal scarless repair to adult scar-forming repair in rats.
161 citations
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August 2013 in “Journal of experimental botany” This study found that specific ATP-competitive TOR inhibitors (asTORis) decrease root growth in Arabidopsis thaliana in a dose-dependent manner, similar to their effects on mammalian cells.
159 citations
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September 2001 in “European Journal of Cancer Care” This literature study reviews the consequences of hair loss due to chemotherapy and nursing care interventions but reports no new clinical results.