June 2023 in “British Journal of Dermatology” This study reports a unique case of coinheritance of BRCA2 and CYLD pathogenic variants in a man with metastatic malignant cylindroma, suggesting that recognizing such genetic profiles in rare conditions can provide new treatment options, including the potential use of therapies targeting BRCA deficiency.
This study reported a significant association between the SNP rs2479106 in the DENND1A gene and PCOS in Saudi Arabian females, while no association was found for SNPs rs10818854 and rs10986105.
34 citations
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September 2010 in “Clinical and Experimental Dermatology” This study identified a new heterozygous mutation in the connexin 26 gene (c.263C>T; p.Ala88Val) in a premature neonate with KID syndrome, who later died from complications.
April 2023 in “Journal of Investigative Dermatology” This study suggests that the CsA-induced inactivation of the CaN/NFAT pathway may suppress TGF-β2 expression in dermal papilla cells, potentially contributing to CsA-associated hypertrichosis.
1 citations
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April 2024 in “Animal Genetics” This study described an Appenzeller Mountain Dog with clinical signs of an NSDHL defect, discovering a large heterozygous de novo deletion spanning the entire NSDHL gene through whole genome sequencing.
77 citations
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June 2002 in “Journal of Investigative Dermatology” CD44 variant changes start alopecia areata, but don't maintain it.
December 2022 in “Journal of The American Academy of Dermatology” The authors maintain there is a significant link between vitamin D deficiency and central centrifugal cicatricial alopecia in Black patients, and call for more research on the topic.
April 2023 in “Journal of Investigative Dermatology” This study found that in biopsied skin samples of alopecia areata, a lower anagen/telogen ratio was associated with increased T cell infiltration, and enhancing the PD-1/PD-L1 axis may inhibit CD8+T cell infiltration and improve the condition.
June 2026 in “Clinical Case Reports” This case report describes a 4-month-old child with symptoms suggesting multiple carboxylase deficiency, which responded well to biotin therapy, highlighting the importance of early diagnosis and treatment to prevent serious health issues in infants with similar unexplained metabolic acidosis and symptoms.
March 2021 in “Research Society and Development” This case study described a Staffordshire Bull Terrier diagnosed with alopecia by color dilution, characterized by gradual hair loss and confirmed through clinical examination and histopathology.
1 citations
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April 2019 in “Journal of Investigative Dermatology” This case study describes successful hair growth in a 59-year-old African-American female with central centrifugal cicatricial alopecia after switching to oral minoxidil treatment.
October 2020 in “Pediatrics in Review” This case report describes a newborn diagnosed with dominant dystrophic epidermolysis bullosa due to a COL7A1 mutation, following the presentation of blisters that healed without further complications.
24 citations
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February 2011 in “The American journal of pathology” This study found that AIRE, a usually nuclear protein, is expressed in the cytoplasm of human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin 17, potentially impacting ectodermal abnormalities in APECED syndrome.
14 citations
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February 2017 in “Scientific Reports” Certain variations of the HDAC9 gene can increase or decrease stroke risk in the Chinese population.
This study mapped the curly mutation in mice to a specific region on chromosome 11, identifying it as a candidate model for studying human genetic hair disorders.
2 citations
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July 2023 in “JAAD Case Reports” This review discusses the potential role of a PADI3 gene variant in central centrifugal cicatricial alopecia among African-American women but reports no new clinical results.
33 citations
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October 2006 in “European Journal of Immunology” This study found that CD44 and CD49d together enhance signaling pathways in lymphocytes in mice with alopecia areata, influencing their activation and function.
November 2022 in “Journal of Investigative Dermatology” This study found that "early" transit amplifying cells, marked by CD271, are the first keratinocyte stem cell progenitors with distinct features, playing a significant role in early epidermal differentiation and regeneration.
April 2010 in “Cancer Research” This study found significant upregulation of IDO-1 and IDO-2 in human basal cell carcinomas, suggesting that IDO production may confer immune privilege characteristics to the tumors, potentially impacting their growth.
April 2023 in “Journal of Investigative Dermatology” This study suggests that monitoring CD8+ TEMRA cells in patients with rapidly progressive alopecia areata treated with intravenous corticosteroids could help predict therapeutic outcomes.
42 citations
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April 2013 in “Steroids” This review discusses the pathophysiology, molecular genetics, and management of non-classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, with no new clinical findings reported.
1 citations
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January 2022 in “Dermatology Research and Practice” This study found that gene expression of CD70 and CD27 was higher in alopecia areata lesions and correlated with increased disease severity and activity.
August 2022 in “IntechOpen eBooks” This article reviews congenital adrenal hyperplasia, a group of rare genetic disorders affecting steroid synthesis, and highlights the need for specific therapy and ongoing monitoring, but reports no new clinical findings.
August 2022 in “Precision Clinical Medicine” This study found that the 3' UTR of JAM-A acts as a key competing endogenous RNA that supports dermal papilla cell function and hair follicle regeneration in alopecia areata.
March 2022 in “Indian Journal of Animal Research” In this study, canine hair follicle stem cells were shown to be multipotent, capable of differentiating into various cell types like adipocytes in vitro.
October 2013 in “The American Journal of Gastroenterology” This case study reports a diagnosis of the rare Cronkhite-Canada syndrome in a 60-year-old man, who showed symptom improvement following treatment with prednisone and azathioprine.
February 2016 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
March 2022 in “Clinical Cosmetic and Investigational Dermatology” This study identified altered mRNA and lncRNA profiles in NS scalp tissues, highlighting CDKN2AIP as a downregulated gene involved in a ceRNA network.
29 citations
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December 1994 in “Soil Biology and Biochemistry” This study found that inoculating Arabidopsis thaliana seedlings with the rhizobacterium Azospirillum brasilense significantly increased root hair length compared to non-inoculated controls.
March 2025 in “Carbohydrate Polymer Technologies and Applications” In this study, researchers developed a carboxylated β-cyclodextrin formulation to enhance finasteride's physicochemical properties, achieving an encapsulation efficiency of about 85% and indicating potential for controlled drug release in therapeutic applications. Their findings suggest this inclusion complex could improve delivery of hydrophobic drugs like finasteride.