October 2017 in “The Indian Journal of Animal Sciences” This study found that prolactin gene polymorphism in Changthangi goats showed no significant association with Cashmere quality traits, indicating the need for further research with larger sample sizes.
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study observed that mice lacking epidermal HSD11b1 had increased non-histaminergic itch and changes in skin nerve fibers, potentially linked to higher TSLP expression.
January 1986 in “Journal of Steroid Biochemistry” Women with severe acne, hirsutism, and androgenic alopecia often have higher levels of certain androgens, but the specific pattern can't be predicted just by looking at symptoms.
January 1986 in “Journal of Steroid Biochemistry” Lower testosterone levels in men may be linked to a higher risk of severe coronary artery disease.
1540 citations
,
October 2008 in “Fertility and Sterility” This review discusses the definition of polycystic ovary syndrome proposed by the AE-PCOS Society Task Force, emphasizing hyperandrogenism, ovarian dysfunction, and excluding related disorders, while noting potential variations needing more research.
411 citations
,
April 2010 in “Gastroenterology” This review explores various theories of colorectal cancer stem cell biology and highlights the need for better identification and targeting of these cells to advance treatment strategies, but reports no new clinical findings.
391 citations
,
September 2015 in “Journal of Clinical Lipidology” This document extends previous recommendations by the National Lipid Association for managing dyslipidemia, focusing on lifestyle therapies, special patient groups, and strategies to enhance adherence and patient outcomes.
383 citations
,
February 2011 in “Nature Reviews Genetics” This review discusses advances in forensic DNA profiling, highlighting new genetic markers and methods for identifying unknown individuals, but reports no new research findings.
359 citations
,
September 2017 in “European Journal of Epidemiology” This article discusses the rationale, design, and significant findings of the long-running Rotterdam Study but reports no new clinical results.
340 citations
,
September 2014 in “PLOS Genetics” This study found that while genetic ancestry affects physical appearance traits in Latin American populations, it accounts for only a modest portion of the observed variation.
291 citations
,
January 2014 in “The Scientific World Journal” Lichen Planus is a less common condition affecting skin and mucous membranes, with various types and associated risk factors, challenging to diagnose, significantly impacts life quality, and may have a risk of cancerous changes in oral lesions.
232 citations
,
January 2013 in “Nature Cell Biology” Understanding where cancer cells come from helps create better prevention and treatment methods.
222 citations
,
October 2014 in “Annual Review of Pharmacology and Toxicology” This review discusses the roles of Eph receptors and ephrins in various diseases, highlighting their potential as therapeutic targets, but it presents no new research findings.
196 citations
,
March 2016 in “Nature Communications” In this study, researchers identified 18 genetic associations with scalp and facial hair traits in Latin Americans, including novel loci for hair greying and balding, with implications for understanding hair evolution.
184 citations
,
September 2006 in “PLoS Genetics” This study found that loss of Apc due to K14-cre-mediated gene recombination in mice led to aberrant growth in ectodermally derived squamous epithelia, implicating its critical role in specifying epithelial cell fates during embryonic development.
150 citations
,
November 2007 in “The Journal of Clinical Endocrinology and Metabolism” This study determined that nonclassical congenital adrenal hyperplasia has a 2.2% prevalence among hyperandrogenic women in Spain, with basal serum 17-hydroxyprogesterone showing excellent diagnostic performance.
128 citations
,
September 2011 in “British Journal of Dermatology” Obesity is linked to various skin problems and may increase the risk of skin cancer.
117 citations
,
May 2017 in “Human Reproduction Update” This review examines the epidemiology, pathophysiology, diagnosis, and management strategies for non-classic congenital hyperplasia due to 21-hydroxylase deficiency, and provides evidence-based recommendations for its treatment and genetic counseling.
115 citations
,
March 2019 in “Nature Communications” This study identified significant genetic associations with frontal fibrosing alopecia at four genomic loci, suggesting it is a genetically predisposed immuno-inflammatory disorder influenced by the HLA-B*07: 02 allele.
115 citations
,
October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, researchers identified novel LMNA mutations in patients with atypical progeroid syndrome, revealing clinical features distinct from other similar disorders, but unrelated to mutant prelamin A accumulation.
106 citations
,
March 2013 in “Nature Communications” This study found several microRNA-related genetic variants linked to epithelial ovarian cancer risk, with a notable association at the 17q21.31 region, suggesting potential new susceptibility genes.
100 citations
,
May 2011 in “Journal of Pediatric and Adolescent Gynecology” This review covers the pathophysiology, diagnosis, and treatment of congenital adrenal hyperplasia due to 21-hydroxylase deficiency and reports no new findings.
94 citations
,
July 2020 in “European Journal of Human Genetics” This article provides guidelines for molecular genetic testing of congenital adrenal hyperplasia due to 21-hydroxylase deficiency, focusing on quality requirements, methodologies, and variant classification; it reports no new clinical results.
92 citations
,
December 2016 in “Scientific Reports” This study identified genomic regions and candidate genes that may contribute to phenotypic diversity in coat color, body size, cashmere traits, and high-altitude adaptation in domesticated goat breeds.
81 citations
,
November 2012 in “Journal of the National Cancer Institute” This study found that FLCN deficiency in mice muscles led to increased mitochondrial biogenesis and a metabolic shift towards oxidative phosphorylation, with a similar advantage observed in FLCN-null kidney cancer cells.
81 citations
,
July 2008 in “The Journal of Clinical Endocrinology and Metabolism” This study found that cortisone reductase deficiency is caused by inactivating mutations in the H6PD gene, affecting cortisol metabolism by preventing 11β-HSD1 enzyme function.
74 citations
,
January 2006 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified novel compound heterozygous mutations in the DSG4 gene in a Japanese patient with congenital hypotrichosis, suggesting overlap between localized autosomal recessive hypotrichosis and monilethrix.
72 citations
,
November 2012 in “PloS one” This study found that dysregulation of the folliculin-p0071 interaction may lead to changes in cell adhesion and signaling, contributing to conditions like emphysema and renal cell carcinoma.
69 citations
,
January 2013 in “Frontiers in Immunology” This review summarizes existing knowledge on the role of FOXN1 as a key regulator of thymic epithelial cell lineage and function, reporting no new experimental results.
69 citations
,
November 2010 in “Middle East Fertility Society Journal” This review discusses the multifactorial origins and pathophysiology of PCOS and highlights the effectiveness of lifestyle modifications as a first-line intervention, reporting no new research results.