47 citations
,
April 2021 in “BMC Medical Genomics” This systematic review and meta-analysis reported potential risk variants for acne in genes related to inflammation and sebaceous gland function, including TNF, CYP17A1, and FST, across diverse populations.
15 citations
,
February 2014 in “PloS one” This study identified two prevalent and one newly proposed founder LIPH mutations in Japanese patients with autosomal recessive woolly hair/hypotrichosis and associated these mutations with different severities of hair loss.
10 citations
,
November 2024 in “Animals” This review examines the genetic challenges in improving wool and cashmere fibers, emphasizing the need for further research on wool keratins and keratin-associated proteins to enhance fiber characteristics.
6 citations
,
August 2023 in “BMC genomics” This study found that Tibetan cashmere goats have genetic adaptations that contribute to their finer cashmere, possibly enhancing their ability to withstand the cold climate of the Tibetan plateau, while identifying specific genes related to hair growth, pigmentation, and heart development.
February 2026 in “Small Ruminant Research” This study found that specific genetic variations in the IRF2BP2 gene influence fleece structure in sheep, with one variant completely determining coat type and another significantly modifying fiber characteristics, providing valuable insights for improving fleece quality through selective breeding.
April 2025 in “Frontiers in Genetics” This study found that integrating breed-specific BOA and SNP-based models helps reveal the genetic factors involved in thermotolerance traits in beef cattle, enhancing insights into thermoregulation and potentially improving cattle's heat resilience.
May 2024 in “JAMA Dermatology” In this study, researchers identified genetic factors associated with frontal fibrosing alopecia, noting a protective effect of a specific CYP1B1 gene variant, which may offer insights into the disease's pathogenesis and future risk mitigation strategies.
This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.
106 citations
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January 2013 in “Clinical and Developmental Immunology” This review discusses the pathogenesis of alopecia areata, highlighting the role of immune privilege collapse in hair follicles but reports no clinical results.
51 citations
,
September 2012 in “Gene” In this study, researchers identified a putative ovine KAP24-1 gene in sheep, revealing four unique DNA sequences with some similarity to KRTAP24-1 sequences from other species.
36 citations
,
November 2005 in “Forensic Science International” This study developed a new STR typing strategy for forensic casework, enabling the simultaneous analysis of 11 polymorphic systems, particularly useful for limited or degraded DNA samples such as telogen hair roots.
29 citations
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March 2010 in “Cancer epidemiology” This study found that early-onset male pattern baldness was associated with a reduced relative risk of prostate cancer.
7 citations
,
February 2019 in “Veterinary medicine and science” This study reports the first identification of the deleterious NIPAL 4 variant, associated with autosomal recessive congenital ichthyosis, in an American Bully and describes its clinical management and follow-up.
5 citations
,
October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
5 citations
,
March 2021 in “F1000Research” This study found that the ABCG2 (rs2231142) polymorphism was associated with an increased risk of hyperuricemia and hypercholesterolemia in young Mexican males.
2 citations
,
July 2021 in “Genes” This study identified a new genetic variant in the KRT71 gene responsible for a breed-specific form of hypotrichosis in Hereford cattle, potentially serving as a model for similar human conditions.
1 citations
,
October 2024 in “Canine Medicine and Genetics” This study suggests a potential genetic component in CFA among Ridgeback dogs, but MLPH genotyping did not identify the MLPH gene as a contributing factor.
1 citations
,
August 2005 in “Springer eBooks” Alopecia areata is an autoimmune disease with genetic links, treatable with certain medications, and can affect mental health.
June 2025 in “Molecular Genetics & Genomic Medicine” This study found that among children with 21-hydroxylase deficiency, there is a strong correlation between severe genetic variants and clinical outcomes, but the correlation weakens with milder variants, indicating the limitations of relying solely on NGS for diagnosis.
January 2003 in “Springer eBooks” Certain genes are linked to type 1 and type 2 diabetes in kids, and changes in these genes can also cause other diabetes-related conditions.
March 2026 in “Cell Death Discovery” In this comprehensive review, researchers examine the p63 gene's crucial role in skin development and pathology, highlighting its regulation of cell processes and its potential therapeutic implications for disorders like ectodermal dysplasia.
January 2019 in “Springer Reference Medizin” This article reviews the role of factor Xa inhibitors like Rivaroxaban and suggests they may eventually replace vitamin K antagonists, but their side effects require further clarification.
1 citations
,
March 2021 in “Current Dermatology Reports” This review highlights various alternative and complementary treatments for androgenic alopecia, noting that while only two FDA-approved options exist, increased awareness among dermatologists of supportive evidence for other therapies may better inform patient education.
2 citations
,
January 2021 in “JAAD Case Reports” This article reviews potential causes for angiolymphoid hyperplasia with eosinophilia, a benign vascular tumor often found in middle-aged adults, and reports no new clinical findings.
September 2025 in “Healthcare” This review discusses the off-label use of SSRIs to manage inappropriate sexual behavior in elderly dementia patients and highlights the unclear risk of post-SSRI sexual dysfunction, noting a need for high-quality clinical trials.
88 citations
,
April 2017 in “Journal of Pediatric and Adolescent Gynecology” This review discusses the pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia, but reports no new research results.
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.
2 citations
,
March 2023 in “Research Square (Research Square)” This review discusses existing forensic DNA phenotyping panels for biogeographical ancestry and externally visible characteristics and highlights major technical limitations, including terminology issues, genetic knowledge gaps, and technological debates; it reports no new results.
Among females with nonclassical 21-hydroxylase deficiency, this study found that low-dose glucocorticoid treatment improved fertility outcomes by increasing pregnancy and live birth rates while reducing miscarriage rates.
February 2018 in “Medical Hypotheses” This article suggests that male pattern hair loss might have historically served as an evolutionary signal for women to choose younger male partners, potentially improving population fitness.