2 citations
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February 2019 in “bioRxiv (Cold Spring Harbor Laboratory)” This study provides the first draft of the male Asiatic lion's whole genome, revealing low genomic diversity and highlighting conservation concerns.
1 citations
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January 1992 in “DNA sequence” This study found that a cuticle keratin gene in sheep is a pseudogene due to gene duplication and mutations, lacking expression in vivo.
December 2020 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” The KDM1 gene helps Venus flytraps close by managing potassium ions.
This review discusses treatments for androgenic alopecia, noting that current options like finasteride and minoxidil are effective for only 10% of patients, thus highlighting the need for new therapies.
October 2023 in “Psychiatry research. Case reports” In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.
5 citations
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April 2013 in “Current Problems in Pediatric and Adolescent Health Care” This review discusses the prevalence and management of polycystic ovary syndrome in women, particularly noting gaps in understanding its presence in adolescents, and reports no new clinical findings.
3 citations
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January 2021 in “Veterinary dermatology” This study describes a rare form of congenital alopecia in domestic short hair cats, characterized by hair shaft defects and follicular dystrophy similar to those seen in certain mutant mouse strains.
2 citations
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November 2019 in “Journal für Klinische Endokrinologie und Stoffwechsel” This review discusses the complex and variable presentation of polycystic ovary syndrome, emphasizing the need for consistent diagnostic criteria and individualized treatment strategies but reports no new clinical results.
This case report describes how unique endoscopic findings led to the diagnosis of Satoyoshi syndrome coexisting with systemic lupus erythematosus and gastric adenoma, expanding the endoscopic understanding of the syndrome.
December 2025 in “Çukurova medical journal (Online)/Çukurova medical journal” In this retrospective review, increased frequencies of certain HLA-DRB1 alleles and low vitamin D3 levels were observed in men with androgenetic alopecia, suggesting an association with immunogenetic factors and potential relevance for screening and treatment decisions.
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.
October 2024 in “Journal of the Endocrine Society” This case study reports on a rare form of vitamin D resistant rickets in a 37-year-old male, highlighting the condition's clinical features and the necessity for a thorough understanding of calcium and vitamin D metabolism in the diagnosis and management of metabolic bone diseases.
October 2024 in “Journal of the Endocrine Society” This study highlights a rare case of vitamin D-dependent rickets type 2A caused by a heterozygous mutation in the vitamin D receptor gene, emphasizing the complexity of managing this condition with high-dose calcium and vitamin D therapy.
January 2024 in “JCEM case reports” In this clinical case report, a man with Birt Hogg Dube syndrome presented with parathyroid cancer, the first such case according to the authors, highlighting a potential link between Folliculin gene mutations and parathyroid cancer development.
June 2023 in “International Journal of Pharmaceuticals Nutraceuticals and Cosmetic Science” This review compiles recent findings on the pharmacokinetics, pharmacodynamics, and pharmacogenomics of Valproate, highlighting potential new uses, benefits, and risks, but reports no new clinical results.
This case report details a 17-year-old boy diagnosed with atypical juvenile pityriasis rubra pilaris (type 5) after presenting with persistent itchy skin lesions since age seven.
July 2015 in “Cambridge University Press eBooks” The document concludes that careful history and physical exams are crucial for accurately diagnosing polycystic ovary syndrome and distinguishing it from other similar conditions.
January 2008 in “대한피부과학회지” This study found that androgenetic alopecia in Koreans is associated with family history and increased androgen levels, with Norwood class IIIv most common in males and Ludwig class I in females.
245 citations
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January 2018 in “Bone Research” This review discusses the role of TGF-β signaling in stem cell recruitment and tissue regeneration, indicating that abnormalities in TGF-β activation contribute to various major diseases and suggesting avenues for therapeutic intervention.
12 citations
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September 2017 in “Molecular and Cellular Endocrinology” This review analyzes how androgens impact sexual desire and reproductive behaviors, emphasizing molecular interactions, but provides no new clinical results.
January 2016 in “Springer eBooks” A 19-year-old male with delayed puberty was successfully treated for a condition that prevents normal hormone production.
November 2012 in “The Journal for Nurse Practitioners” This article discusses the complexities of diagnosing systemic lupus erythematosus and its potential triggers but reports no new clinical findings.
257 citations
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July 2018 in “Obstetrics & Gynecology” This review discusses the various phenotypes and diagnostic challenges of polycystic ovary syndrome, highlighting its complex pathophysiology and associated health risks, and reports no new clinical results.
2 citations
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December 2011 in “Annales de Dermatologie et de Vénéréologie” 2011 dermatological research found new skin aging markers, hair loss causes, skin defense mechanisms, and potential for new treatments.
September 2021 in “Pediatrics in review” This case study describes a 7-month-old boy diagnosed with keratitis-ichthyosis-deafness syndrome due to a de novo GJB2 gene mutation, highlighting the challenges in treatment and eventual fatal outcome due to severe complications.
13 citations
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July 2009 in “Pediatrics in Review” This review discusses the diagnosis and treatment of 21-hydroxylase deficiency in congenital adrenal hyperplasia and emphasizes the need for earlier detection and proper management; it reports no clinical results.
5 citations
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November 2022 in “Genetics selection evolution” This study found that low-coverage whole-genome sequencing followed by imputation effectively identifies genetic variants associated with wool traits in Angora rabbits, offering a cost-efficient method for genetic research and breeding.
36 citations
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September 2015 in “Forensic Science International: Genetics” This study found that specific DNA variants in the TCHH, WNT10A, and FRAS1 genes are associated with predicting straight hair in Europeans, showing high sensitivity but low specificity, especially using a neural networks approach.
December 2023 in “Forensic science international. Genetics” This study found that the RapidHIT™ ID system can successfully obtain DNA profiles from single hair roots, particularly those with high nuclei counts.
January 2012 in “Evaluation and Analysis of Drug-Use in Hospitals of China” This retrospective study found that oral finasteride showed efficacy in 73% of androgenic alopecia patients, with better results linked to early and longer treatment duration.