8 citations
,
January 2022 in “BMC Biology” This study found that the gene SRD5A1, associated with methylation changes due to early-life environment, may play a role in altering reproductive phenotypes in women by delaying pubertal onset and decreasing ovarian reserve.
3 citations
,
August 2022 in “Archives animal breeding/Archiv für Tierzucht” This study found that specific genetic variants of the KAP22-1 gene in Egyptian sheep breeds were significantly associated with wool traits like crimp, staple length, kemp score, and greasy color grade, suggesting their potential use in breeding programs.
January 2024 in “Wiadomości Lekarskie” This presentation reviews the potential of novel device-based interventions for heart failure treatment, noting that despite advances in drug therapy, many patients still experience significant symptoms. Results of these interventions, which address limitations of medication, are not reported in this abstract.
December 2021 in “Molecular genetics and genomics” This study found that two unrelated domestic shorthair cats had novel DSG4 gene mutations causing defective hair shafts, representing the first report of pathogenic DSG4 variants in domestic animals.
1308 citations
,
March 1998 in “Journal of bone and mineral research” This review discusses the molecular role of the vitamin D receptor in regulating various biological actions such as bone mineralization and reports no new clinical results, highlighting the complexity of vitamin D's function in multiple tissues.
15 citations
,
October 2018 in “Reproductive Biomedicine Online” This study suggests that the anogenital distance measure AGDAC may moderately discriminate the presence of polycystic ovarian syndrome and could be a useful clinical tool.
48 citations
,
January 2011 in “Hormone Research in Paediatrics” This review discusses the molecular basis and clinical implications of primary generalized glucocorticoid resistance and hypersensitivity, attributing them to mutations in the human glucocorticoid receptor gene, and reports no new clinical findings.
1 citations
,
December 2025 in “Frontiers in Endocrinology” This review examines the potential role of gut microbiota and its metabolites in polycystic ovary syndrome (PCOS) and highlights the growing interest in this area; it reports no new clinical findings.
August 2010 in “Journal of Investigative Dermatology” New hair regrowth model introduced, imiquimod kills skin cancer cells, T-cadherin loss makes skin cancer more invasive, no strong link between PTCH1 gene and skin cancer after transplant, and male teens more likely to have hereditary hair loss.
15 citations
,
January 1987 in “Electrophoresis” This study found that electrophoretic keratin typing of head hair can identify specific polypeptide patterns, suggesting potential applications in genetic and forensic investigations.
9 citations
,
March 2018 in “European journal of dermatology/EJD. European journal of dermatology” This study in a Pakistani family identified a novel ST14 gene variant as the likely genetic cause of autosomal recessive ichthyosis with hypotrichosis syndrome.
1744 citations
,
August 2006 in “The Journal of Clinical Endocrinology and Metabolism” This review discusses definitions of polycystic ovary syndrome and reports no new clinical results; the authors support using modified 1990 NIH criteria and acknowledge ongoing evolution as research advances.
989 citations
,
August 2007 in “The Lancet” This article reviews the clinical features, diagnostic criteria, and possible genetic and environmental influences of polycystic ovary syndrome but provides no new research findings.
237 citations
,
December 2001 in “Urology” This review discusses the role of 5α-reductase in prostate development and BPH, and reports no new clinical results; ongoing trials are exploring dual isozyme inhibitors for improved treatment efficacy.
118 citations
,
October 2013 in “Trends in Genetics” The AUTS2 gene is linked to neurological disorders and may affect human brain development and cognition.
71 citations
,
August 2005 in “The journal of investigative dermatology. Symposium proceedings/The Journal of investigative dermatology symposium proceedings” This study revealed that human keratin-associated protein genes are expressed in specific patterns in hair fiber regions and vary in size, with some variations distinct across different populations.
66 citations
,
January 2001 in “Vitamins and hormones” This chapter reviews the role of androgen receptors in mediating the actions of androgens in specific tissues and provides no new experimental findings.
64 citations
,
March 2017 in “Nature communications” This study identified 63 genetic loci associated with male-pattern baldness, uncovering genes and pathways that may help develop treatments and suggesting its connection to other human conditions.
48 citations
,
May 2015 in “PLOS ONE” This study found that a genetic test using 5 to 20 SNPs can predict male pattern baldness with variable accuracy in European men, especially those aged 50 and older.
40 citations
,
January 2013 in “Frontiers in Endocrinology” Finger length ratios are not linked to the number of specific gene repeats affecting testosterone sensitivity.
30 citations
,
June 2021 in “British Journal of Dermatology” This review discusses the association between WNT10A gene variants and various ectodermal disorders, highlighting their clinical relevance in dermatology and dentistry, but reports no new findings.
28 citations
,
July 2017 in “Journal of Endocrinological Investigation” This study suggests that early onset androgenetic alopecia in men may indicate a male PCOS equivalent, possibly leading to higher risks of metabolic and cardiovascular disorders later in life.
28 citations
,
May 2017 in “Molecular ecology” This study observed that in wild snowshoe hares, gene expression patterns during seasonal coat color change show a consistent lag between gene expression and visible coat color changes.
26 citations
,
December 2011 in “Journal of Investigative Dermatology” This review discusses major advances in understanding inherited hair diseases through genetic research and reports no new clinical results; the authors emphasize the potential for new preventive and therapeutic tools.
24 citations
,
October 2014 in “Cold Spring Harbor Perspectives in Medicine” Genetic research has advanced our understanding of skin diseases, but complex conditions require an integrative approach for deeper insight.
21 citations
,
April 2014 in “PLoS ONE” In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
20 citations
,
February 2019 in “Genes” This study identifies a likely pathogenic homozygous missense variant in the AEBP1 gene in a patient with symptoms of classical Ehlers-Danlos syndrome, suggesting new perspectives for EDS classification and research.
16 citations
,
September 2018 in “Clinical Biochemistry” This paper discusses the link between polycystic ovarian syndrome (PCOS) and health issues like infertility and cardiovascular diseases, caused by both genetic and environmental factors, but reports no new clinical findings.
6 citations
,
September 2015 in “Journal of Investigative Dermatology” This study demonstrated that RNA interference targeting mutant keratin genes can effectively correct hair shaft structural defects in a mouse model by reducing mutant gene expression.
3 citations
,
March 2018 in “BMC Cancer” This study found that androgenic alopecia was associated with a decreased risk of testicular germ cell tumors but a potential increased risk of high-grade prostate cancer.