10 citations
,
January 2012 in “Lupus” This case report is the first to associate NEMO syndrome with systemic lupus erythematosus, suggesting a potential role for NF-kB essential modulator in the pathogenesis of SLE.
9 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This report documents the second known case of Castleman's disease in the lacrimal gland, diagnosed in an 84-year-old woman through histological examination after excising a left upper lid mass.
7 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This case report details a 65-year-old woman who developed malignant melanoma in her right eye socket following previous eye trauma, treated by orbital exenteration.
5 citations
,
February 2004 in “Clinical and Experimental Ophthalmology” This study presents two cases correlating the clinical appearance of adult-onset foveomacular vitelliform dystrophy with optical coherence tomography findings, describing the location of the yellow vitelliform material.
1 citations
,
March 2019 in “KnE life sciences” This case report suggests that human dermal papillae conditioned media may accelerate wound healing in congenital aplasia cutis due to varicella infection.
1 citations
,
May 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This meeting synopsis on the 66th Annual Montagna Symposium reports no new results but outlines discussions on precision dermatology, integrating molecular insights with clinical applications for personalized skin care.
This report describes a case of Goltz syndrome in a 12-year-old Saudi girl, highlighting the variability in symptoms and the importance of documenting such rare syndromes.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This review discusses potential causes of alopecia and hair overgrowth in pediatric patients, detailing diagnostic techniques and treatments, but presents no new research findings.
234 citations
,
April 2000 in “Gene” This review discusses the expression patterns and biochemical roles of Msx and Dlx genes during development but does not present new research findings.
80 citations
,
March 2004 in “Neuropediatrics” This article presents an update on a family with Coats' plus disorder, documenting additional symptoms and two new similar cases, and reviews literature suggesting a link to dyskeratosis congenita for potential molecular insights.
41 citations
,
December 2019 in “Stem Cell Reviews and Reports” This review discusses the progress in tooth regeneration research and highlights the potential of spatial-temporal release of developmental factors, but it reports no new clinical findings.
41 citations
,
November 2011 in “The Journal of Dermatology” This review identifies genetic mutations associated with congenital hair loss disorders in Japanese populations, particularly highlighting common LIPH gene mutations linked to woolly hair/hypotrichosis, and reports no new clinical results.
March 2026 in “Calcified Tissue International” This review discusses the complex role of the EDA pathway in vertebrate skeletal development, emphasizing its interaction with other morphogenic pathways to influence skeletal diversity, but reports no new experimental results.
June 2006 in “British Journal of Dermatology” The document reports unique growth lines in a child after Stevens-Johnson syndrome, skin reaction from parsnips and sun in a girl, and itchy skin with xanthomas in a boy with Alagille syndrome.
16 citations
,
July 2019 in “Journal of Cellular Biochemistry” This review discusses the varied roles of Wnt7a in development, tissue homeostasis, and cancer, reporting no clinical results; the authors emphasize the need for further investigation on its roles in inflammation and fibrosis.
1 citations
,
January 2017 in “Springer eBooks” The document explains how hair follicles develop, their structure, and how they grow.
September 2021 in “Research Square (Research Square)” This study reports that despite rescuing neurulation and skin barrier defects, Grhl3 gene overexpression in mice leads to hearing impairment, hair loss, and other developmental abnormalities, highlighting low tolerance for Grhl3 dysregulation.
134 citations
,
January 2011 in “Development” This study found that disrupting Adam10 in the epidermis led to severe skin and multi-organ abnormalities, implicating Adam10 as crucial for proper Notch signaling and skin maintenance.
1 citations
,
May 1965 in “Medical Clinics of North America” Hair growth dysfunction involves various conditions with limited treatment options.
556 citations
,
September 2008 in “Genes & Development” This review summarizes how genetic studies using conditional β-catenin loss- and gain-of-function mice have advanced understanding of canonical Wnt signaling's role in embryonic development, adult stem cell maintenance, and cancer modeling.
196 citations
,
March 2016 in “Nature Communications” In this study, researchers identified 18 genetic associations with scalp and facial hair traits in Latin Americans, including novel loci for hair greying and balding, with implications for understanding hair evolution.
144 citations
,
August 2019 in “Cells” This review discusses the WNT signaling pathway's involvement in human diseases and highlights recent advances in WNT-related treatments, but it presents no new research findings.
119 citations
,
November 2014 in “Trends in Cell Biology” This review discusses the mechanisms and pathways of FGFR signalling and its roles in development, disorders, and therapeutic targeting, but reports no new clinical results.
103 citations
,
October 2003 in “Birth Defects Research” This review discusses the multifactorial etiology of hypospadias, including genetic predispositions and possible environmental factors, and highlights the need for further studies on genetic and environmental contributions to its increasing prevalence, without presenting new findings.
99 citations
,
July 2012 in “PLoS Genetics” This study identified a 69 bp deletion in the KRT75 gene as the cause of the frizzle feather trait in chickens, affecting feather curling.
87 citations
,
September 2019 in “Nature Communications” In this study, researchers identified that upon tissue injury in a mouse model, epidermal cells at the wound edge convert to an embryonic-like state with SOX11 and SOX4 playing a central role in modulating epidermal development and cell migration genes.
78 citations
,
November 2008 in “Fertility and Sterility” Amenorrhea is relatively rare and initial testing should check FSH, TSH, and prolactin levels.
72 citations
,
January 2011 in “Current Pharmaceutical Design” This review discusses the potential role of steroid 5α-reductase inhibitors in treating neuropsychiatric disorders related to dopaminergic hyperreactivity but reports no new clinical results.
68 citations
,
August 2012 in “Journal of the American Academy of Dermatology” This paper discusses the use of dermatoscopy as a fast, noninvasive technique for diagnosing hair shaft disorders and reports no new results; the authors highlight its advantages over traditional microscopy methods.
65 citations
,
January 2009 in “Pediatric Dermatology” In this retrospective study at a New Delhi children's hospital, the authors found that pediatric skin diseases were most commonly infections and infestations, with bacterial infections and scabies leading, followed by eczemas.