17 citations
,
January 1993 in “Journal of Gastroenterology and Hepatology” This study found that recombinant IFN α-2b injections in patients with acute post-transfusion hepatitis C can suppress viral RNA and lead to normalization of serum ALT, though long-term prevention of chronicity remains unclear.
July 2017 in “British Journal of Dermatology” The document concludes that scalp conditions have various causes and can present in many different ways.
20 citations
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November 2003 in “American Journal Of Pathology” Fibroblasts from healthy donors can prevent changes seen in recessive epidermolysis bullosa simplex.
October 2024 in “Journal of the Endocrine Society” This study highlights a rare case of vitamin D-dependent rickets type 2A caused by a heterozygous mutation in the vitamin D receptor gene, emphasizing the complexity of managing this condition with high-dose calcium and vitamin D therapy.
This study found that prophylactically administering amotosalen-treated allogeneic donor T cells at transplantation significantly improved immune reconstitution and protection against murine cytomegalovirus infection without inducing graft-versus-host disease.
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.
In this case report, a 25-year-old woman with VKHD experienced an unusual occurrence of vellus-like hair growth on her normally hairless palm, observed twice over two years, expanding the known integumentary manifestations of VKHD.
4 citations
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April 2019 in “Gynecological Endocrinology” This study found that the rs 1570360 polymorphism and the T-G-C haplotype of the VEGF gene may be associated with a protective factor against polycystic ovary syndrome in a Brazilian population.
117 citations
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August 1999 in “Nature Genetics” 7 citations
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October 2023 in “European Journal of Pharmacology” This study found that Cannabidivarin (CBDV) promotes neuronal differentiation and inhibits oligodendrocyte maturation via TRPV1 modulation, highlighting its potential in neural stem cell research.
215 citations
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September 2003 in “Journal of Biological Chemistry” This study found that the hairless gene product (Hr) suppresses VDR-mediated gene activation by directly interacting with the vitamin D receptor, potentially affecting hair follicle function.
151 citations
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June 2010 in “Endocrinology and metabolism clinics of North America” This article compares two rare genetic diseases, vitamin D-dependent rickets type 1 and type 2, focusing on their similar presentations of hypocalcemia and rickets in infancy, but reports no new clinical results.
97 citations
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January 1999 in “International Journal of Dermatology” Pityriasis rubra pilaris is a rare skin disorder with reddish-orange patches and thickened skin, needing better treatment understanding.
3 citations
,
April 2020 in “American Journal of Case Reports” This case report describes the first instance of juvenile hemochromatosis type 2A associated with secondary hypothyroidism, linked to a novel mutation in the HJV gene.
128 citations
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January 2023 in “Frontiers in Endocrinology” This review discusses recurrent implantation failure (RIF) in IVF, noting the lack of standard definitions or treatment protocols, and emphasizes the need for individualized treatment and further research.
15 citations
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November 2017 in “JAAD Case Reports” This study reports no known changes in hair pigmentation associated with brentuximab vedotin, despite its various other documented adverse effects.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identifies two previously unreported pathogenic RIPK4 gene variants, suggesting a functional link with cell adhesion molecules in ectodermal dysplasias.
100 citations
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November 2021 in “Cell Research” This study found that SARS-CoV-2 hijacks the host factor IGF2BP1 to stabilize its RNA and enhance translation, and identified Cepharanthine and Trifluoperazine as potential treatments against the virus.
2 citations
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July 2013 in “Journal of Life Sciences” In this case report, researchers described a two-year-old girl with Vitamin D dependent rickets Type II, noting elevated 1,25-dihydroxyvitamin D3 and alopecia, and observed limited treatment response likely due to poor compliance.
37 citations
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March 2010 in “Veterinary dermatology” This study reports a case of bovine besnoitiosis in Germany characterized by specific skin lesions, with diagnosis confirmed through histopathology, serology, and PCR as Besnoitia besnoiti.
October 2023 in “Journal der Deutschen Dermatologischen Gesellschaft” In this study, a case of rosacea fulminans during pregnancy was successfully treated with a combination of oral azithromycin and prednisone, highlighting this treatment approach for managing similar cases.
January 2007 in “Bristol Research (University of Bristol)” This study diagnosed epidermolysis bullosa in eight calves across four UK farms, characterized by skin lesions and excluding mutations in keratin genes as the cause.
October 2024 in “Journal of the Endocrine Society” This case study reports on a rare form of vitamin D resistant rickets in a 37-year-old male, highlighting the condition's clinical features and the necessity for a thorough understanding of calcium and vitamin D metabolism in the diagnosis and management of metabolic bone diseases.
15 citations
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November 2009 in “Journal of Comparative Pathology” Epidermolysis bullosa in calves was not caused by mutations in the keratin genes bKRT5 and bKRT14.
19 citations
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March 2016 in “British journal of dermatology/British journal of dermatology, Supplement” In this study, evidence that trichodysplasia spinulosa-associated polyomavirus targets follicular keratinocytes was observed in a pediatric case, suggesting these cells as the primary viral target.
2 citations
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March 2024 in “International Journal of experimental research and review” This study found that more than 14% of idiopathic recurrent early pregnancy loss cases were associated with chromosomal heteromorphisms, predominantly 9qh+, suggesting a genetic component in these unexplained cases.
20 citations
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July 2017 in “Scientific Reports” This study found that a novel missense mutation in the vitamin D receptor caused hereditary 1,25-dihydroxyvitamin D-resistant rickets with alopecia by disrupting protein function, highlighting the importance of DNA binding in hair development.
September 2023 in “Frontiers in cell and developmental biology” This study found that a catalytically active version of Vav2 significantly altered gene expression patterns in hair follicle stem cells in mice, with these changes varying over the animals' lifespans.
May 2014 in “Transfusion and Apheresis Science” The study found that the quality of cord blood units remains consistent before freezing and after thawing, indicating that attached tube segments reliably represent the graft's properties.
18 citations
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May 2013 in “Cutaneous and Ocular Toxicology” This study suggests that cutaneous adverse reactions to bortezomib and lenalidomide are more frequent than reported, impacting patients' quality of life and may require dermatological consultation for proper management.