191 citations
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November 2007 in “Journal of Biological Chemistry” This review discusses the acyl-CoA synthetase very-long-chain (ACSVL) enzyme family, including its biochemical characteristics, tissue expression, and involvement in lipid metabolism, but presents no new experimental results.
January 2020 in “Journal of Cutaneous and Aesthetic Surgery” The conference improved skills and knowledge in skin and aesthetic surgery.
April 2024 in “BMB Reports” This study used Cisd2 knockout mice models and found that these mice display premature aging characteristics and an increase in dysfunctional neutrophils, suggesting Cisd2's role in calcium homeostasis and neutrophil function via interactions with Calnexin and SERCA.
This study introduced the C-CAT, a new assessment tool for central centrifugal cicatricial alopecia, and found that established treatments improved symptoms in most patients over six months.
1 citations
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September 2019 in “Steroids” In this study, genetic testing confirmed the diagnosis of Androgen insensitivity syndrome in most CAIS patients in Tunisia and identified two previously unreported mutations in the androgen receptor gene.
This case study suggests that obstructive sleep apnea syndrome may be hereditary in patients with connective tissue disorders due to a variant in the COL1A2 gene.
September 2019 in “Journal of Investigative Dermatology” CCCA in women of African ancestry may be caused by PADI3 gene mutations and intense hair grooming.
2 citations
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January 2014 in “The Korean journal of medicine” This review covers the development and validation of classification criteria for systemic lupus erythematosus, detailing the changes from the 1982 ACR criteria to the 2012 SLICC criteria, and reports no new results.
4 citations
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December 2021 in “Journal of clinical laboratory analysis” This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
1 citations
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January 2025 in “Journal of Cosmetic Dermatology” This study found that increased ACE2 expression, prompted by mechanical stretch, promotes skin regeneration and reduces dermal thinning during tissue expansion by enhancing collagen synthesis, suggesting ACE2's potential to improve clinical outcomes in reconstructive surgery settings.
179 citations
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June 2000 in “The American journal of pathology” This study reports that the asebia-2J mutation in mice affects sebaceous gland function and leads to hair follicle destruction, offering a model for human scarring alopecias.
April 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers found that CCCA in women of African descent is associated with molecular changes, including dysregulation of fatty acid metabolism and fibrosis pathways, suggesting potential targets for new treatments.
September 2021 in “CRC Press eBooks” This article discusses features, genetics, and diagnostic challenges of central centrifugal cicatricial alopecia in African American women but reports no new clinical results.
3 citations
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December 2021 in “Frontiers in endocrinology” In this study, a novel DCAF17 gene mutation was identified in a Chinese family, suggesting a potential role in pancreatic β cell dysfunction and diabetes development in Woodhouse-Sakati syndrome.
2 citations
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August 2022 in “World Journal of Clinical Cases” In this study, researchers found multiple somatic mutations and copy number variations in a patient with Cronkhite-Canada syndrome, providing novel insights into its potential genetic mechanisms.
305 citations
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March 2008 in “AJP Endocrinology and Metabolism” This article reviews the regulation and roles of spermidine/spermine-N(1)-acetyltransferase (SSAT) in polyamine metabolism and its potential as a target in cancer and other diseases, without reporting new experimental results.
2 citations
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July 2024 in “International Journal of Molecular Sciences” In this study, researchers found that knocking down the transcription factor Csdc2 inhibited the proliferation of dermal papilla cells in cashmere goats, and identified its regulatory relationship with the gene Robo2, providing insights into the genetic mechanisms influencing cashmere fiber growth.
November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.
46 citations
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July 2008 in “Dermatologic Therapy” This study developed and evaluated a photographic scale to assess CCCA pattern and severity in African American women, finding it reproducible when used by investigators and participants.
9 citations
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October 2022 in “Journal of Molecular Neuroscience” This study reports a novel LSS gene mutation in an Egyptian family with alopecia intellectual disability syndrome 4, expanding the known clinical and genetic features of the condition.
December 2013 in “International Journal of Dermatology” The clinical signs of Adams-Oliver syndrome can vary greatly, even among family members.
June 2026 in “Value in Health” 12 citations
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July 2004 in “Molecular genetics and genomics” This study identifies a new mutation in the Scd1 gene in a strain of Kunming mice, causing skin and hair defects with the mildest impact among similar mutations.
February 2024 in “International journal of medical science and clinical research studies” This article reviews the clinical features, pathogenesis, and treatment strategies for Central Centrifugal Cicatricial Alopecia, emphasizing the need for enhanced understanding and early diagnosis, but reports no new research findings.
3 citations
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October 2011 This article discusses revised SLE classification criteria by the SLICC and reports no new research results.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified intramembrane proteolysis as a key feature of Astrotactin2 maturation, providing insights into its role in planar cell polarity hair patterning.
January 2009 in “Epsilon: Revista de la Sociedad Andaluza de Educación Matemática "Thales"” This report describes a Cronkhite-Canada syndrome patient with severe sepsis and disseminated intravascular coagulation successfully treated using combined therapies, including recombinant human soluble thrombomodulin.
4350 citations
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May 2012 in “Arthritis & Rheumatism” This study found that the new SLICC classification criteria for systemic lupus erythematosus were more sensitive and resulted in fewer misclassifications than the current ACR criteria, although they had lower specificity.
This study found that the Arabidopsis cation chloride cotransporter (CCC1) is crucial for regulating pH and processes in the trans-Golgi-network/early endosome, impacting plant growth and stress responses.
This case report describes a 33-year-old Kashmiri woman with Woodhouse-Sakati syndrome who has a rare DCAF17 gene mutation, c.321+1G>A, providing further evidence for its role in the genetic basis of this neuroendocrine disorder.