January 2026 in “American Journal of Medical Genetics Part A” The researchers reported two brothers with a new variant of X-linked trichothiodystrophy associated with an RNF113A gene mutation, highlighting features such as intellectual disability and growth failure, but without previously reported endocrinological or genital abnormalities, underlining the importance of genetic counseling for such variants.
64 citations
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March 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes GPRC5D's unique expression pattern in tissues that produce hard keratin, with retinoic acid inducing its expression in hair bulb cells and affecting keratin gene regulation.
25 citations
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December 2005 in “Molecular Genetics and Metabolism” This study reports that riboflavin may increase enzymatic activity in a GCDH-deficient patient with specific mutations, but doesn't fully normalize urinary organic acid levels.
January 2015 in “UNIFESP Institutional Repository (Universidade Federal de São Paulo)” This study found that a 30 Gy radiation dose was most effective in an experimental rabbit model of radiodermatitis, causing significant tissue changes and prolonged effects compared to lower doses and a control group.
47 citations
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February 1998 in “Journal of bone and mineral research” In this study, researchers identified a unique Arg30stop mutation in the vitamin D receptor gene that causes hereditary vitamin D-resistant rickets in a young French-Canadian boy by truncating the receptor and causing hormone resistance.
7 citations
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October 2024 in “Journal of the American Academy of Dermatology” This source reported that patients who initially responded to ritlecitinib treatment showed sustained hair regrowth through week 48, with up to one-third of those not meeting target efficacy at week 24 also achieving a response with continued treatment.
February 2025 in “Biomolecules” This study found that activation of RORA significantly promotes the level of autophagy in rat hair follicle stem cells, suggesting a potential target for research on hair follicle development and treatments for conditions like alopecia.
This study found that RXR and RAR proteins were detectable in normal human skin, suggesting they may play a role in epidermal cell differentiation and hair and gland physiology.
26 citations
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June 2018 in “The journal of immunology/The Journal of immunology” This study demonstrated that AIRE-deficient rats exhibit key symptoms of APECED, making them a relevant model for exploring potential treatments.
May 2012 in “Journal of Clinical Oncology” This study found a significant association between male breast cancers and exposure to finasteride and dutasteride, with an estimated additional case per 564 men taking these drugs.
8 citations
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August 2015 in “Journal of dermatological science” This study observed that the topical skin-whitening agent rhododendrol induced skin depigmentation in approximately 16,000 consumers, linked to melanocyte cytotoxicity and immune reactions.
1 citations
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November 2019 in “The Korea Journal of Herbology” In this study, a herbal mixture (RAA) was found to promote hair growth in mice, showing increases in hair density and follicle size similar to minoxidil treatment.
2 citations
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September 2024 in “Asian Journal of Andrology” In a retrospective cohort of patients with steroid 5 α-reductase 2 deficiency, this study identified seven novel genetic variants in the SRD5A2 gene, expanding the variant database and contributing to improved diagnostic and therapeutic approaches for the condition.
46 citations
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May 2021 in “Stem Cell Research & Therapy” This study found that strontium ranelate promotes cartilage regeneration in rats by enhancing chondrogenic differentiation of bone mesenchymal stem cells while inhibiting the Wnt/β-catenin signaling pathway.
2 citations
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November 2004 in “Blood” In this study, researchers reported that the Pinkie mutation in mice, affecting RXRa activity, leads to skewed Th1 development and suggests RXRa's role in Th2 differentiation, impacting immune responses.
36 citations
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January 2010 in “Journal of Pediatric Endocrinology and Metabolism” This study identified a novel nonsense mutation in the VDR gene in two patients with hereditary vitamin D resistant rickets and alopecia, leading to resistance to 1,25-dihydroxyvitamin D3.
1 citations
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September 2023 in “Journal of the American Academy of Dermatology” In this study, patients with alopecia areata who didn't initially respond to ritlecitinib at Week 24 showed improved response rates by Week 48, with up to 34% achieving better hair regrowth outcomes.
July 2025 in “SKIN The Journal of Cutaneous Medicine” This study describes characteristics and outcomes for adults initiating ritlecitinib for severe alopecia areata, highlighting increased hair regrowth and physician satisfaction with longer treatment durations, despite ongoing psychosocial impacts like embarrassment and anxiety among patients.
July 2023 in “SKIN The Journal of Cutaneous Medicine” This study found that some patients with alopecia areata who did not respond to ritlecitinib treatment by Week 24 achieved a positive response with continued therapy by Week 48, with tolerable side effects.
82 citations
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April 1981 in “Clinical endocrinology” This study describes a case of vitamin D resistant rickets in a young girl due to end organ unresponsiveness, highlighting a possible new subtype of the disorder with distinct clinical features.
5 citations
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February 2025 in “Pediatric Dermatology” In this study, ritlecitinib was generally well tolerated in pediatric alopecia areata patients aged 6 to <12 years, with no severe or serious adverse events reported, and the drug's pharmacokinetic parameters were successfully characterized.
This article reviews different generations of synthetic retinoids for dermatological use, discussing their efficacy and significant side effects, but reports no new clinical results.
1 citations
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June 2026 in “Dermato” This narrative review found that ritlecitinib shows consistent effectiveness and a favorable safety profile for treating alopecia areata in clinical trials and real-world settings, with progressive hair regrowth observed, particularly when treatment is initiated early and maintained appropriately.
7 citations
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September 2024 in “PLANT PHYSIOLOGY” This study in Arabidopsis thaliana found that exposure to volatile compounds from Penicillium aurantiogriseum promotes root hair growth through signaling involving RALF22, ethylene, auxin, and photosynthesis, and that RALF22 plays a crucial role in the plants' response to these compounds.
4 citations
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March 2002 in “International journal of toxicology” In this study on tolerant rats, maternal and developmental toxicity from levo-alpha-acetyhnethadol hydrochloride were observed at all doses, without specific fetal toxicity or teratogenic effects.
81 citations
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July 2012 in “Translational Psychiatry” In this pilot study, no significant differences were observed between memantine and placebo groups in young adults with Down syndrome on the primary memory outcomes, but some improvement was noted in a secondary measure.
September 2021 in “Physiology News” This abstract contains only graphic design specifications and reports no new research findings.
14 citations
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March 2022 in “Plant Cell & Environment” In this study, the authors reported that AtRXR3, a phosphorus-inducible DUF506 protein, modulates root hair growth under phosphorus stress by interacting with calmodulin and influencing calcium oscillations.
A 72-year-old man was diagnosed with a rare skin form of Rosai-Dorfman disease after years of misdiagnosis.
8 citations
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December 2016 in “Hormone Research in Paediatrics” This study reported a series of eight children with hereditary vitamin D-resistant rickets in Tunisia, identifying both common and novel mutations in the vitamin D receptor gene, and noting significant improvement with intravenous calcium treatment in most patients.