45 citations
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January 2010 in “Journal of Veterinary Medical Science” This study identified a mutation in the keratin 71 gene that causes curly hair in certain rats, advancing our understanding of hair formation.
January 2010 in “China Animal Husbandry & Veterinary Medicine” This study suggests that RORα, RORβ, and RORγ mRNA expression in cashmere goat skin is related to different stages of hair follicle development, indicating a possible role in cycled cashmere growth.
9 citations
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January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
1 citations
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November 2023 in “Rice” This study found that PRX102, a peroxidase with a unique polar localization pattern, plays a role in root hair growth by aiding the transport of materials to the tips of growing root hairs.
January 2026 in “Dermatologic Therapy” In this prospective study, ritlecitinib effectively reduced hair loss in patients with severe alopecia areata, with 43.3% of participants achieving a 20 or lower SALT score by week 24, and showed a good midterm safety profile.
75 citations
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July 2016 in “New phytologist” This study found that RSL4 in Arabidopsis thaliana regulates genes necessary for root hair elongation by controlling proteins involved in cell signaling, cell wall modification, and secretion.
188 citations
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June 1998 in “Molecular cell” This study found that mimicking the XPD point mutation in mice resulted in trichothiodystrophy-like symptoms, supporting the role of basal transcription and DNA repair defects in the disease.
April 2012 in “Neuropediatrics” This article reviews the genetic and phenotypic characteristics of Trichothiodystrophy and discusses the associated DNA repair defects, but does not report new clinical findings.
December 2024 in “Animals” In this study, researchers found that RORA directly regulates the expression of the Bnip3 gene, which is crucial for hair follicle stem cell health, using rat HFSCs as a model. They propose that targeting RORA could modulate HFSC status.
27 citations
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August 2018 in “Frontiers in Plant Science” This study found that root hair growth is influenced by a complex interplay of auxin, inorganic phosphate, and transcription factors RSL2/RSL4, with reactive oxygen species playing a key role in this regulation.
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.
11 citations
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July 2010 in “European Journal of Dermatology” In this study, researchers confirmed linkage of a form of hair-nail ectodermal dysplasia to chromosome 12 in a Pakistani family, suggesting a possible non-coding mutation in KRTHB5 or a mutation in an unknown gene.
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.
March 2023 in “SKIN The Journal of Cutaneous Medicine” This study observed that most patients with alopecia areata experienced sustained scalp hair regrowth after 48 weeks of ritlecitinib treatment, with safety consistent with prior findings.
107 citations
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March 2014 in “BoneKEy Reports” This abstract reviews hereditary vitamin D-resistant rickets, a rare genetic condition causing severe early childhood rickets, and reports no new results; effective treatment typically requires high doses of calcium to address hypocalcemia and secondary hyperparathyroidism.
January 2024 in “Ankara City Hospital Medical Journal” This case report describes a 42-year-old woman with Rhupus, a rare overlap syndrome of rheumatoid arthritis and systemic lupus erythematosus, highlighting challenges in diagnosis due to non-specific clinical criteria and documenting specific symptoms such as inflammatory arthritis, malar rash, and hematological abnormalities observed during follow-up.
June 2025 in “Acta Dermato Venereologica” Low-dose Ritlecitinib may help children with stubborn Alopecia Areata.
2 citations
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September 2016 in “Journal of Dermatological Science” Reduced TRPS1 leads to increased STAT3 and SOX9 in hair follicles, affecting hair growth.
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.
3 citations
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June 2018 in “Internal Medicine” In this study, a patient with Cronkhite-Canada syndrome complicated by severe sepsis and disseminated intravascular coagulation was successfully treated using combined therapies, including recombinant human soluble thrombomodulin, despite the absence of a standard treatment regimen for CCS.
5 citations
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July 2022 in “Orphanet journal of rare diseases” This study found that RSPO1 mutations in patients with a 46XX disorder of sexual development contribute to impaired skin integrity and increased risk of squamous cell carcinoma in areas subject to friction.
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.
January 2024 in “Ankara City Hospital Medical Journal” This case report details a 42-year-old woman with Rhupus, a rare overlap syndrome of rheumatoid arthritis and systemic lupus erythematosus, emphasizing diagnostic challenges due to non-specific clinical criteria and documenting symptoms like inflammatory arthritis, malar rash, and hematological abnormalities.
37 citations
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August 2011 in “Journal of Bone and Mineral Research” This study reported a case of hereditary vitamin D–resistant rickets caused by a single heterozygous missense mutation in the VDR gene, showing dominant-negative effects and reduced response to 1,25-dihydroxyvitamin D3.
7 citations
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July 1975 in “Acta dermato-venereologica” This case study reports a patient with Rothmund-Thomson type congenital poikiloderma, showing primarily skin changes and hair loss, along with slightly elevated lysine and cystine levels in urine.
6 citations
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January 2014 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” This case series describes three siblings with hereditary vitamin D-resistant rickets, highlighting variations in their clinical presentations.
3 citations
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February 2011 in “Journal of Biomedical Research/Journal of biomedical research” This study identified a novel mutation, R430Q in the KRT86 gene, in a Han family with monilethrix, which may contribute to the disease's pathogenic mechanism.
21 citations
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February 2017 in “PLoS ONE” This study found that RhoA influences embryonic stem cell proliferation through the PKN1-cyclin D1 pathway in vitro, suggesting RhoA as a potential target for wound healing therapies.
29 citations
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January 2003 in “KARGER eBooks” In this study, researchers concluded that hereditary 1,25-dihydroxyvitamin D-resistant rickets, characterized by specific mutations in the vitamin D receptor gene, may resolve metabolic abnormalities with age, though associated alopecia remains.
November 2024 in “SKIN The Journal of Cutaneous Medicine” This study reports that ritlecitinib was prescribed to a diverse group of patients, including adolescents and adults with and without prior treatment for Alopecia Areata, in the first three months after FDA approval, potentially expanding care options for this condition.