292 citations
,
April 2024 in “Nature Reviews Disease Primers” Early diagnosis and treatment of PCOS are crucial to reduce health risks and costs.
188 citations
,
January 2022 in “PubMed” This review discusses recent advancements in congenital adrenal hyperplasia research, including improved diagnostic techniques, alternative treatments, and insights from long-term outcome data, but it reports no new clinical results.
166 citations
,
November 2008 in “Expert Review of Endocrinology & Metabolism” This review discusses biotin and biotinidase deficiencies, their symptoms, and methods of medical management, without presenting new clinical findings.
164 citations
,
February 2019 in “Anais Brasileiros de Dermatologia” This study produced a guide for managing adult female acne, addressing its complex nature compared to teenage acne, and providing detailed recommendations on diagnosis and treatment. The authors noted that further research is needed to better understand the condition.
112 citations
,
August 2012 in “The American Journal of Human Genetics” In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.
97 citations
,
March 2010 in “The American Journal of Human Genetics” A mutation in the KRT74 gene causes tightly curled hair.
80 citations
,
April 2006 in “Clinical Interventions in Aging” This review discusses factors affecting hair aging and the current pharmacological treatments for androgenetic alopecia, mentioning topical minoxidil and oral finasteride, but does not present new clinical findings.
75 citations
,
September 2007 in “Journal of Heredity” This study found that mutations in the FGF5 gene are the primary genetic factor causing long hair in domestic cats through an autosomal recessive mechanism.
50 citations
,
February 2013 in “BMC evolutionary biology” This study found that the Hr gene loss and positive selection for the FGF5 gene in cetaceans likely contributed to hair loss as these animals adapted to aquatic environments.
49 citations
,
January 2006 in “Developmental Dynamics” This research observed that the skeletal abnormalities in Noggin null mice varied based on genetic background, and identified haploinsufficiency leading to joint fusions, similar to human conditions associated with NOGGIN deficiency.
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.
45 citations
,
May 2024 in “International Journal of Molecular Sciences” This manuscript reviews the latest understanding of alopecia areata's pathogenesis, highlighting the roles of genetic, immunological, and environmental factors, with a focus on immune responses involving IFN-γ and cytotoxic CD8+ T-cells as key contributors to hair follicle inflammation and function disruption without follicle destruction.
43 citations
,
December 2020 in “PLOS Genetics” This study used a new statistical approach, PLACO, to identify several novel shared genetic regions associated with both Type 2 Diabetes and Prostate Cancer in two large GWAS datasets.
39 citations
,
December 2012 in “The American Journal of Human Genetics” This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.
39 citations
,
October 2012 in “Familial cancer” This review covers the molecular basis of Birt–Hogg–Dubé syndrome and its implications for potential therapeutic targets, but it does not report new experimental results.
37 citations
,
January 2005 in “Dermatology Online Journal” In this study, researchers observed a significant association between female androgenetic alopecia and coronary artery disease in women under 55, supporting a link similar to that seen in men.
29 citations
,
March 2000 in “Journal of Investigative Dermatology” The gene for Marie Unna hereditary hypotrichosis is located on chromosome 8p21.
26 citations
,
May 2019 in “Journal of Multidisciplinary Healthcare” This review explores the epidemiology, clinical subtypes, pathology, psychological impact, and treatment options for cutaneous lupus erythematosus, emphasizing the importance of interdisciplinary collaboration and addressing psychological distress to optimize patient outcomes.
24 citations
,
June 2013 in “Journal of neuroendocrinology” This research observed that 5α-reductase inhibitors showed significant tic-suppressing effects in Tourette's syndrome, suggesting a key role for this enzyme in the disorder's pathogenesis.
23 citations
,
October 2021 in “Cell Stem Cell” This study found that hair shaft miniaturization in aging and genetic hypotrichosis leads to hair follicle stem cell loss through mechanical compression and apoptosis mediated by the Piezo1 channel.
21 citations
,
December 2023 in “Journal of Investigative Dermatology” This study highlights multiple factors contributing to hair graying, such as oxidative damage, melanocyte changes, and genetic influences, and suggests that repigmentation may be temporarily reversible, offering potential targets for future treatments while urging caution when applying mouse model findings to humans.
21 citations
,
July 2022 in “Orphanet journal of rare diseases” This review discusses recent advancements in therapies for ichthyosis, highlighting promising prospects in protein replacement and gene therapy, but it reports no new clinical results.
21 citations
,
February 2015 in “Clinical Cosmetic and Investigational Dermatology” This review explores the "brain-skin connection" and presents evidence suggesting keloids may be influenced by psychosocial stress, although it reports no new experimental results.
20 citations
,
February 2023 in “Biology” This review highlights the possibility of safely altering hair color through innovative cosmetics by targeting key biological processes in hair follicles, using insights from mammalian pigmentation studies and drug-induced hair color changes as potential pathways.
20 citations
,
January 2017 in “Genetica” This study suggests that the methylation degree of HOXC8 exon 1 in the hair follicle may influence cashmere fiber growth in Liaoning cashmere goats.
15 citations
,
February 2006 in “Journal of Investigative Dermatology” More research is needed to understand and treat cicatricial alopecias.
10 citations
,
March 2024 in “Endocrine Reviews” In this retrospective review, the author discusses key discoveries in understanding androgen excess disorders like PCOS, focusing on genetic and molecular insights gained from 1965 to 2015.
10 citations
,
November 2021 in “International journal of molecular sciences” This review discusses the role of keratin-associated proteins in the growth and characteristics of wool and hair fibres from sheep and goats, and highlights areas for future research, but it presents no new findings.
10 citations
,
November 2018 in “Genetics in medicine” This study identified a genetic variant in the CTS6 gene associated with a hypotrichosis syndrome, emphasizing the significant role of cystatin M/E in hair and skin health.
10 citations
,
November 2008 in “Veterinary Dermatology” In this study, the misshaped and hairy ear phenotype in mutant mice was linked to mis-expression of certain Hoxc genes due to a chromosomal inversion.