November 2019 in “European journal of internal medicine” This report documents a case of Cronkhite-Canada Syndrome in a 56-year-old Laotian man, who successfully improved with vitamin supplementation and medical treatment after experiencing weight loss, alopecia, and gastrointestinal polyposis.
30 citations
,
January 1997 in “ILAR Journal” This review details the development and genetic background of senescence-accelerated mouse strains, provides a comprehensive examination of their phenotypes, and highlights their importance for aging research, but reports no new experimental results.
February 2026 in “Endokrynologia Polska” This report presents two cases of Berardinelli–Seip syndrome, emphasizing the role of genetic analysis and comprehensive care in managing the variability and complications of this rare condition.
1 citations
,
December 2020 in “Journal of diabetes and endocrine practice” I'm sorry, but I can't provide a summary without the content of the document.
May 2026 in “Dermatology The American Medical Journal” This lecture abstract discusses a career driven by a commitment to helping patients with vitiligo and hidradenitis suppurativa but reports no scientific findings.
17 citations
,
April 2013 in “Experimental and Therapeutic Medicine” This study found that anti-Sjögren's syndrome type B antibodies are highly specific for diagnosing systemic lupus erythematosus and are associated with several clinical symptoms, including cheek erythema and alopecia.
21 citations
,
March 2015 in “Neurological Sciences” This study reports that a novel frameshift mutation in the HTRA1 gene in a CARASIL pedigree led to reduced HTRA1 protein and increased TGF-β1 expression, potentially causing severe CARASIL and peripheral small arterial disease.
In this clinical case study, a 30-year-old man with systemic lupus erythematosus was diagnosed with both catastrophic antiphospholipid syndrome and acquired haemophilia A, successfully treated with immunosuppressive therapy, plasma exchange, and IVIG, leading to a favourable outcome.
November 2024 in “Journal of Investigative Dermatology” This study found that scarring alopecia is common in autosomal recessive congenital ichthyosis patients and significantly correlates with the disease's severity, highlighting the need for thorough hair evaluations in clinical management.
November 2023 in “BMC genomics” Using a multi-omics analysis, this study identified key regulators like PLA2G12A, KRT79, and prostaglandin B2 that influence cashmere fineness, providing crucial data for understanding the molecular mechanisms behind this trait in Liaoning cashmere goats.
September 2025 in “Journal of Investigative Dermatology” This research found that deleting the SLC3A2 gene in hair follicle stem cells disrupts their maintenance and proper differentiation, leading to hair follicle growth defects and altered skin regeneration through a YAP/Taz-dependent pathway.
January 2026 in “International Journal of Molecular Sciences” In this study, researchers identified S100a4 as a critical regulator of secondary hair follicle stem cells in cashmere goats, linking its expression to follicle regeneration and differentiation pathways, which may have implications for enhancing cashmere fiber production.
7 citations
,
July 2020 in “Immunological Investigations” This study observed that the rs231775 CTLA4 genetic variant was more prevalent in Alopecia Areata patients than controls, particularly among those with severe disease.
3 citations
,
August 2024 in “The Journal of Cell Biology” This study demonstrated that in live rodents, actin filaments adjust their structure to facilitate membrane transfer between cellular compartments with different biophysical properties.
3 citations
,
October 2024 in “International Journal of Molecular Sciences” This study found that non-activated platelet-rich plasma from acetylsalicylic acid-treated patients increased inflammatory cytokines, affecting platelet activation and possibly influencing outcomes in PRP therapies.
182 citations
,
August 2016 in “Development” This review discusses the roles and mechanisms of chromatin remodelers and their subunits in mammalian development, but reports no new experimental results.
January 2024 in “Skin Appendage Disorders” This source reports that SET may offer notable cosmetic improvements and enhance well-being for patients with CA, serving as a cost-effective treatment option either alone or alongside hair transplantation.
November 2022 in “Frontiers in pediatrics” This case report found that a child with acrodermatitis enteropathica showed significant improvement in symptoms after continuous zinc supplementation and identified two SLC39A4 mutations through genetic sequencing.
199 citations
,
April 2010 in “Nature” A gene called APCDD1, which controls hair growth, is found to be faulty in a type of hair loss called hereditary hypotrichosis simplex.
October 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study introduces the Hair Cell Analysis Toolbox (HCAT), a machine-learning software that automates the analysis of cochlear hair cells, enabling unbiased and comprehensive imaging data interpretation.
15 citations
,
August 2022 in “The Application of Clinical Genetics” This review describes the clinical presentation, diagnosis, and management of adrenomyeloneuropathy, including rehabilitative therapies and spasticity management, and reports no new clinical results.
8 citations
,
January 2008 in “Annals of Dermatology” This study concluded that combining systemic cyclosporine A with low-dose corticosteroids effectively treats severe alopecia areata while maintaining safe cyclosporine A levels in the blood.
September 2023 in “Journal of the American Academy of Dermatology”
November 2009 in “Journal of Pediatric Nursing” This case report describes a 6 1/2-year-old girl with significant height growth and early pubic hair development.
May 2018 in “Dermatologic Surgery” This overview highlights the Dermatologic Surgery journal's comprehensive coverage of skin surgery procedures and techniques, but it reports no new research findings.
8 citations
,
December 2020 in “The FASEB Journal” Blocking adenosine A2B receptor may prevent or treat hearing loss.
January 2018 in “Elsevier eBooks” The document concludes that alopecia has various forms, each with specific treatments, but no definitive cure for certain types like CCCA has been proven.
1 citations
,
August 2015 in “AACE Clinical Case Reports” This case report identifies a novel AR gene mutation in an adolescent with primary amenorrhea, suggesting that CAIS should be considered when evaluating patients with a female phenotype and breast development.
3 citations
,
May 2019 in “Australasian Journal of Dermatology” This letter to the editors discusses the nature of alopecia in Cronkhite–Canada syndrome and questions whether it is truly telogen effluvium, but it reports no new clinical findings.
April 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a specific genetic variant in the CCHCR1 gene that may contribute to alopecia areata through impaired keratinization, suggesting an alternative mechanism beyond autoimmune causes.