11 citations
,
April 2019 in “Bioscience Reports” In this study, single nucleotide polymorphisms in the RAB5B gene were linked to an increased risk of polycystic ovary syndrome and associated with specific microRNA binding sites.
9 citations
,
November 2012 in “Hepatology Research” This case study reports the first instance of irreversible alopecia universalis occurring during pegylated interferon-ribavirin therapy in a man with hepatitis C infection, without evidence of immunological or thyroid disorders.
3 citations
,
March 2022 in “Medicine” This case report described a patient with unilateral branch retinal artery occlusion due to previously undiagnosed systemic lupus erythematosus, where systemic immunotherapy led to significant visual improvement and resolution of macular edema.
1 citations
,
May 2019 in “Cytotherapy” This study found that digital droplet PCR (ddPCR) outperformed qPCR in detecting replication competent lentivirus in CAR-T products by offering better sensitivity, specificity, and reproducibility, making it a reliable and rapid method for ensuring patient safety.
January 2022 in “Menoufia Medical Journal /Menoufia Medical Journal” This study found that alopecia areata was associated with increased serum levels of retinol-binding protein-4 compared to controls, but no correlation with disease severity was observed.
January 2024 in “Pediatric rheumatology online journal” In this case report, the authors describe a child and his mother with a heterozygous STING variant linked to SAVI, who exhibited atypical disease courses and varying organ involvement, underlining the diverse clinical manifestations of SAVI.
30 citations
,
October 2014 in “PLOS ONE” This study found that BAF200, a subunit of the PBAF chromatin remodeling complex, is crucial for heart development and coronary artery formation in mice, as its absence led to embryonic lethality with severe cardiac defects.
1 citations
,
October 2023 in “European Journal of Dermatology” This study found that combining hair transplantation with platelet-rich plasma treatment significantly improved hair regeneration, reduced hair loss, and minimized skin lesion areas in patients with androgenic alopecia compared to hair transplantation alone, suggesting enhanced treatment efficacy.
January 2026 in “Pediatrics International” This report examines the cautious approach to administering live vaccines to an infant with a heterozygous FOXN1 variant, noting the importance of monitoring TREC levels and immune function indicators in guiding vaccination decisions in such cases.
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
,
May 2020 in “Gynecology Obstetrics and Reproductive Medicine” In this study, no association was found between bacterial vaginosis and skin disorders in patients with autoimmune antibody positivity.
September 2025 in “Journal of Cosmetic Dermatology” In this study, the use of rb‐bFGF in hair transplantation significantly increased follicle survival, reduced hair loss, improved patient satisfaction, and decreased complications compared to controls, in patients with androgenetic alopecia over a 12-month period.
1 citations
,
May 2001 in “Proceedings of SPIE, the International Society for Optical Engineering/Proceedings of SPIE” This paper presents an RGB video microscopic system to monitor optical properties of hair shafts and follicles in vitro, but reports no new clinical results.
April 2020 in “Journal of Mind and Medical Sciences” This article presents a case study of isolated rheumatic tricuspid valve disease leading to right heart failure and severe valve damage, highlighting the rarity and diagnostic challenges of tricuspid involvement in rheumatic fever.
1 citations
,
April 2002 in “PubMed” This case report documents a young woman who experienced a visual field defect similar to those linked to vigabatrin use, despite treatment only with valproic acid and carbamazepine, suggestive of a possible metabolic vulnerability in certain patients with specific genetic backgrounds.
15 citations
,
January 2014 in “Dermatology” This study found a relatively low prevalence of cutaneous reactions in chronic hepatitis C patients treated with peginterferon alfa and ribavirin, with reactions correlated to age and treatment duration.
December 2023 in “International journal of statistics and probability” In this study, the authors used a Bayesian Poisson - Hidden Markov Model to analyze COVID-19 cases by blood type in Europe and Africa, finding differences in hidden states and infection rates based on blood type across these regions.
18 citations
,
February 2010 in “Odontology” This report describes Rabson-Mendenhall syndrome cases in two siblings and briefly reviews the literature, highlighting insulin receptor gene mutations as the underlying cause.
December 2025 in “Dermatology Reports” This source describes vitiligo as a chronic condition marked by the loss of skin pigmentation and discusses leukotrichia, a feature affecting 10% to 60% of cases, which arises from melanocyte loss in hair follicles and appears as well-defined white patches on the skin.
32 citations
,
April 2020 in “PLoS Biology” This study found that Rab5c is crucial for proper HSPC development in zebrafish embryos by regulating Notch and AKT signaling through endocytic trafficking, with both deficiency and overactivation leading to production defects.
76 citations
,
January 1998 in “Mammalian Genome”
14 citations
,
January 2006 in “Skinmed” A woman developed white patches on her skin and curly hair after hepatitis C treatment, likely due to the medication interferon alpha.
1 citations
,
March 2023 in “European Journal of Human Genetics” This retrospective study observed that patients with vascular EDS on long-term angiotensin II receptor blockers or beta-blockers experienced fewer vascular events compared to those without cardiac medication under similar lifestyle and emergency care advice.
3 citations
,
February 2004 in “Anais Brasileiros De Dermatologia” This study observed a high incidence of hemangioma rubi on the scalp in older adults, which had not been previously reported in the literature.
This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.
6 citations
,
June 2011 in “British Journal of Dermatology” This study found that individuals with alopecia areata had significantly higher serum levels of retinol-binding protein 4 and increased IgG immunoreactivity against it, suggesting a role in the disease's pathogenesis.
May 2023 in “Indian Journal of Dermatology” In this study, researchers observed temporary skin reactions at BCG vaccination sites following the Pfizer-BioNTech COVID-19 mRNA vaccine in five patients, suggesting underreported occurrences.
July 2023 in “Media Dermato Venereologica Indonesiana” This case study highlights that RDEB-mitis can be misdiagnosed in older adults, emphasizing the importance of accurate diagnosis as it does not require immunosuppressive treatment.
1 citations
,
November 2025 in “Wiener Medizinische Wochenschrift” This study reports a case of fatal HHV-6 encephalitis and vasculitis in a previously healthy 49-year-old male, highlighting the occurrence of this condition even in individuals without typical risk factors, such as immunocompromised status.
July 1996 in “Annals of Internal Medicine” This correspondence reported significant variability between quantitative PCR and bDNA assays for measuring Hepatitis C virus RNA in high-titer specimens, challenging the reliability of the Chiron assay.