1 citations
,
December 2004 in “Hepatology” This study found that in lamivudine-resistant hepatitis B patients, tenofovir significantly reduced HBV DNA levels faster and more consistently than adefovir, reaching undetectable levels in all treated patients by 44 weeks.
5 citations
,
January 2022 in “Asian Pacific Journal of Cancer Prevention” This study found that the rs2228570 polymorphism of the VDR gene was associated with an increased risk of melanoma, while the rs731236 polymorphism was linked to a protective effect against the disease in Colombian patients.
73 citations
,
January 2004 in “Journal of the American Academy of Dermatology” Immunocompromised patients can develop skin and hair issues due to a virus.
1 citations
,
July 2024 in “Journal of Investigative Dermatology” VYN201 shows promise as a safe and effective treatment for non-segmental vitiligo.
13 citations
,
April 1994 in “Baillière's clinical endocrinology and metabolism” This review discusses inherited forms of vitamin D-dependent rickets and explains their genetic and metabolic causes but reports no new clinical findings.
3 citations
,
September 2023 in “Genes” This study analyzed the molecular evolution and functional divergence of the Dkk gene family, finding accelerated evolution in Aves and Reptilia and identifying functional differences that may impact hair follicle development via Wnt signaling inhibition.
40 citations
,
August 2010 in “Archives of dermatology” This case report describes the youngest known patient with viral-associated trichodysplasia of immunosuppression, where systemic valganciclovir therapy improved facial papule eruptions following cardiac transplantation.
1 citations
,
April 2016 in “Journal of Investigative Dermatology” This study suggests that NKG2D+ Vδ1 T cells may contribute to hair follicle pathology in alopecia areata by recognizing stressed keratinocytes and inducing immune privilege collapse.
74 citations
,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.
30 citations
,
August 2005 in “British journal of dermatology/British journal of dermatology, Supplement” This study identified a novel CDH3 mutation associated with sparse hair and pigmentary macular changes in two siblings with hypotrichosis but no visual symptoms.
13 citations
,
February 2016 in “Journal of steroid biochemistry and molecular biology/The Journal of steroid biochemistry and molecular biology” In this study, researchers observed that the absence of the vitamin D receptor or its ligand-activated transcription in mice did not affect glucose homeostasis or gene expression in islets.
2 citations
,
July 2015 in “Case Reports in Dermatology” In this case study, DDS treatment for LABD was complicated by hemolytic anemia and alopecia, suggesting the need for careful monitoring of these potential side effects.
In this study, researchers developed an AI-powered platform called VitaDetect, which screens for vitamin deficiencies using image analysis of nails, tongue, and skin, aiming to provide an accessible and early-stage detection tool in resource-limited settings.
9 citations
,
June 2017 in “American journal of ophthalmology. Case reports” This case report identifies a novel CDH3 gene mutation associated with hypotrichosis with juvenile macular dystrophy in a 13-year-old Turkish girl, highlighting implications for future genetic analysis and counseling.
53 citations
,
December 2012 in “Revista da Sociedade Brasileira de Medicina Tropical” In this study, liver transaminase levels and various symptoms persisted in some adult dengue patients even two months after diagnosis.
August 2009 in “Mechanisms of Development” 29 citations
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June 2010 in “The Journal of Dermatology” This report documents a novel alanine to valine substitution in the GJB2 gene in a Japanese girl with severe keratitis–ichthyosis–deafness syndrome, suggesting a potential link to her severe recurrent infections and immunodeficiency.
September 2017 in “Griffith Research Online (Griffith University, Queensland, Australia)” This study found that in a mouse model of Ross River virus-induced joint inflammation, targeting IL-17A and IL-17A/F heterodimers reduced disease severity.
2 citations
,
November 1996 in “Transplantation” This study found that intrathymic injection of recipient-type splenocytes into donor rats, combined with antilymphocyte antiserum, effectively prevented graft-versus-host disease for up to 300 days.
29 citations
,
June 2000 in “Endocrinology” This study suggests that alopecia in vitamin D receptor null mice is due to impaired initiation of the hair cycle rather than defects in keratinocyte proliferation or differentiation.
January 2018 in “VCU Scholars Compass (Virginia Commonwealth University)” In this study using Xenopus laevis embryos, reduced levels of the desmosomal protein desmoplakin led to defects in epidermal and cardiac structures, suggesting its crucial role in tissue integrity.
2 citations
,
July 2015 in “Archives of Dermatological Research” This study reports the first familial case of alopecia linked to a novel homozygous variant in the DSP gene, which did not coincide with heart abnormalities despite prior associations.
195 citations
,
November 2001 in “The Journal of Cell Biology” This study found that desmocollin 1 is crucial for strong adhesion and barrier maintenance in the mouse epidermis, with its absence leading to skin and hair issues resembling chronic dermatitis.
140 citations
,
April 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that mice lacking the 1αOHase enzyme, which is responsible for producing a key vitamin D metabolite, showed impaired epidermal differentiation and delayed recovery of skin barrier function after disruption.
114 citations
,
June 2000 in “Endocrinology” In this study, the researchers found that alopecia in VDR null mice is likely due to issues with hair cycle initiation rather than defects in keratinocyte proliferation or differentiation.
34 citations
,
July 2009 in “Journal of Cell Science” This study found that ΔNp63α directly regulates VDR expression, which in turn may reduce invasiveness in an epidermoid cancer cell line.
10 citations
,
September 2019 in “Experimental Eye Research” This review discusses the role of RDH12 in vision, its structural and functional aspects, and related disease mechanisms, but reports no new clinical results; it aims to support therapy development for inherited retinal dystrophies.
August 2025 in “International Journal of Contemporary Pediatrics” This case report presents a rare subtype of hypomyelinating leukodystrophy linked to a PYCR2 gene mutation, emphasizing exome sequencing's value in diagnosing undiagnosed childhood HLDs with atypical symptoms.
18 citations
,
January 2010 in “Dermatology Research and Practice” This case report describes a 30-year-old Brazilian male who developed vitiligo lesions following diphencyprone therapy for alopecia areata.
10 citations
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February 2008 in “Photochemistry and photobiology” This study suggests that the vitamin D receptor and hairless gene may directly regulate each other via a transcriptional mechanism, potentially explaining phenotypic similarities between atrichia and VDRRIIa rickets.