65 citations
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September 2010 in “Journal of the Neurological Sciences” This article discusses Kennedy's disease, detailing its genetic cause, symptoms, and diagnostic criteria, but reports no new clinical findings and highlights a lack of causal therapy.
February 2011 in “Journal of Investigative Dermatology” New findings suggest targeting IL-23 could treat psoriasis, skin cells can adapt to new roles, direct conversion of skin cells to blood cells may aid cell therapy, removing certain tumor cells could boost cancer immunotherapy, and melanoma may have many tumorigenic cells, not just cancer stem cells.
38 citations
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January 2020 in “Cell Transplantation” This study found that ACE2 and TMPRSS2 genes were more highly expressed in tumors of elderly male cancer patients compared to healthy individuals, with notable differences across age and gender.
133 citations
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January 2009 in “Nature” This study identified gene expression patterns in a mouse model that may influence tumor susceptibility and tissue functions related to inflammation and cell proliferation, highlighting Lgr5 and the vitamin D receptor as key regulators.
January 2013 in “Kidney international” This report describes a clinical case of a 38-year-old man diagnosed with Birt-Hogg-Dubé syndrome, confirmed by genetic testing, highlighting the presentation of multiple renal tumors and bilateral lung cysts.
37 citations
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April 2018 in “Journal of Allergy and Clinical Immunology” This study found that a novel IKZF1 mutation, p.L188V, is linked to juvenile-onset systemic lupus erythematosus and alters B-cell activation by disrupting normal DNA binding.
29 citations
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March 2021 in “Frontiers in Endocrinology” This review discusses the dual role of testosterone in COVID-19 progression and suggests its importance in understanding the disease's mechanisms, highlighting the need for further targeted research.
1 citations
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November 2021 in “Biomedicines” This review elaborates on the concept of cutaneous mosaicism and its link to acneiform conditions, but it reports no new clinical results.
August 2025 in “Dermatopathology” This study identified 96 cases of pilomatricomas linked to genetic syndromes, including a novel association with Apert syndrome, highlighting that these tumors often manifest as the first indication of underlying conditions in pediatric patients.
August 2025 in “Andrology” In this study, the researchers reconstructed Abraham's family pedigree from the Bible's book of Genesis to explore potential medical or genetic explanations for reported cases of familial infertility, linking historical accounts with plausible scientific reasoning.
1 citations
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September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
April 2020 in “Journal of the Endocrine Society” This case report describes a rare occurrence of giant bilateral adrenal myelolipomas in a 28-year-old female with CAH, emphasizing that large, hormonally active, or painful myelolipomas should be surgically removed.
September 2019 in “Journal of Investigative Dermatology” This study suggests that subtle modifications in ribosomal RNA methylation may influence cellular physiology and contribute to ribosome specialization in senescent human dermal fibroblasts.
September 2019 in “Journal of Investigative Dermatology” This study found that polyamine levels were higher in the vertex hair than in occipital hair among patients with pattern baldness, suggesting a relation to hair loss development in the scalp's vertex region.
16 citations
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March 2005 in “Journal of The American Academy of Dermatology” This report describes a case of Birt-Hogg-Dube syndrome with manifestations including multiple fibrofolliculomas, acrochordons, and renal oncocytoma.
3 citations
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March 2005 in “Journal of the American Academy of Dermatology” This case report describes a patient with Birt-Hogg-Dube syndrome exhibiting multiple fibrofolliculomas, acrochordons, and renal oncocytoma.
2 citations
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November 2019 in “Cancer reports” This study concluded that the Wnt signaling pathway does not significantly influence human keratoacanthoma development, but the overexpression of Sox9 suggests alternate signaling involvement.
research Acne
2 citations
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May 2011 in “Harper's Textbook of Pediatric Dermatology” Acne is a common skin condition linked to diet, hormones, and genetics, and early treatment can prevent scarring.
184 citations
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September 2006 in “PLoS Genetics” This study found that loss of Apc due to K14-cre-mediated gene recombination in mice led to aberrant growth in ectodermally derived squamous epithelia, implicating its critical role in specifying epithelial cell fates during embryonic development.
November 2016 in “Elsevier eBooks” This chapter reviews genetic defects in female sexual differentiation, focusing on 46,XX disorders of sex development and the impact of genetic factors and sex steroids on development, but reports no new clinical findings.
21 citations
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February 2013 in “Clinics in Dermatology” This review discusses recent developments in targeted melanoma therapies, including BRAF/MEK/ERK pathway inhibitors and challenges like resistance and skin toxicities, but reports no new clinical results.
3 citations
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May 2023 in “Frontiers in immunology” This study reviewed the role of inflammasomes in autoimmune skin diseases, highlighting their contribution to the pathogenesis of conditions such as vitiligo, alopecia areata, and psoriasis, and suggesting that targeting inflammasome dysregulation may offer new therapeutic options.
June 2025 in “Journal of Endocrinological Investigation” This review identifies and discusses various endocrine-related causes of hypertension in children and adolescents, emphasizing the role of genetic predispositions and highlighting the need for systematic diagnostic guidelines and genetic sequencing referrals to improve diagnosis and treatment strategies.
80 citations
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April 2018 in “Trends in Molecular Medicine” This review discusses the roles of interferon-γ and PPAR-γ-mediated signalling in scarring alopecia, suggesting these pathways as potential therapeutic targets, but it reports no new empirical results.
68 citations
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May 2016 in “Experimental dermatology” This review discusses what is known about the pathobiology of frontal fibrosing alopecia and reports no new clinical findings, highlighting potential environmental and genetic factors in disease pathogenesis.
54 citations
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October 2023 in “Oncogene” In this review, the researchers detailed how the p63 transcription factor influences epithelial stem cell activities such as self-renewal, differentiation, and proliferation, highlighting the role of TAp63 and ΔNp63 isoforms in both normal tissue development and cancer pathogenesis.
30 citations
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June 2014 in “Seminars in Immunology” This review discusses recent advances in understanding the Eda pathway's role in developmental biology, and highlights ongoing trials and areas for further research, including Eda's potential involvement in cell processes and disease.
21 citations
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November 2017 in “Livestock science” This study confirms the presence of large structural variations in the genome of Nellore cattle, which may contribute to their environmental adaptation to tropical regions.
12 citations
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February 2014 in “PLoS ONE” This study observed high expression of mTOR pathway effectors in fibrous papules and TSC-associated angiofibromas, suggesting that topical rapamycin might be an effective treatment for fibrous papules.
3 citations
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December 2016 in “Journal of epidemiological research” In this study, only European-ancestry females showed a linear increase in cutaneous malignant melanoma risk with age, potentially due to the loss of HPV-infected androgenic follicles after menopause.