65 citations
,
February 2015 in “Neuro-Oncology” In this study, four children with recurrent atypical teratoid rhabdoid tumors experienced disease stabilization or regression after treatment with alisertib, suggesting its potential role in future trials for this condition.
64 citations
,
August 2014 in “The journal of allergy and clinical immunology/Journal of allergy and clinical immunology/The journal of allergy and clinical immunology” This study found that biallelic mutations in the TTC7A gene affect lymphocyte and gut epithelial cell function, thereby contributing to the development of inflammatory bowel disease in patients.
64 citations
,
November 2012 in “EMBO reports” This review discusses the role of lamins in development, tissue maintenance, and stress response, and does not report new experimental findings.
64 citations
,
March 2005 in “Journal of Investigative Dermatology” This study found that brain-derived neurotrophic factor (BDNF) inhibited hair shaft elongation and induced premature catagen development in cultured human hair follicles, partially through transforming growth factor β2.
62 citations
,
August 2014 in “BMC Endocrine Disorders” This review summarizes the recent advances in molecular mechanisms influencing tissue sensitivity to glucocorticoids, emphasizing novel mutations and new information on the glucocorticoid receptor's circadian rhythm and ligand-induced repression, but reports no new results.
62 citations
,
January 2010 in “Hormone research in paediatrics” This study found that the R257X mutation in the AIRE gene is prevalent among Russian patients with autoimmune polyglandular syndrome type 1, particularly in those with hypoparathyroidism and chronic mucocutaneous candidiasis.
60 citations
,
July 2020 in “ACS Nano” This review discusses the progress and challenges in delivering CRISPR/Cas9 systems for in vivo genome editing, highlighting current methods and opportunities for future therapeutic applications.
58 citations
,
March 2013 in “Human Reproduction Update” This review discusses various substances that can impact male fertility and stresses that products should be confirmed 'sperm-safe' through rigorous testing, not assumptions; it reports no new study results.
58 citations
,
April 1998 in “Journal of biological chemistry/The Journal of biological chemistry” This study identified that the enzyme CYP2B12 is skin-specific and likely plays a role in the metabolism of arachidonic acid, a key component in lipid signaling within sebaceous glands.
56 citations
,
May 2017 in “Nature Cell Biology” Hair can regrow after certain stem cells are lost because other stem cells can take over their role.
55 citations
,
November 2018 in “American journal of human genetics” This study identified five mutations in the gene LSS in individuals with unexplained hypotrichosis simplex, highlighting a potential role of mislocalized LSS proteins in disrupting hair follicle biology.
55 citations
,
September 2014 in “Development” In this study, mouse sweat gland development relied on a regulatory sequence initiated by Wnt/β-catenin signaling, and disruptions in Wnt, Eda, or Shh pathways led to distinct developmental failures.
55 citations
,
June 2014 in “Nature Communications” This study found that overexpression of the transcription factor Tcf3 accelerates keratinocyte migration and skin wound healing in mice, highlighting its potential as a therapeutic target for wound repair.
54 citations
,
April 2010 in “Baillière's best practice and research in clinical endocrinology and metabolism/Baillière's best practice & research. Clinical endocrinology & metabolism” This review discusses 46,XY disorders of sex development caused by defects in androgen production and highlights the need for long-term care from experienced multidisciplinary teams, but it reports no new clinical findings.
54 citations
,
July 2002 in “Clinical and Experimental Dermatology” This article provides a critical overview of recent discoveries in the genetics and molecular processes involved in androgenetic alopecia, focusing on its polygenic basis and DHT dependency, but reports no new clinical results.
52 citations
,
April 2013 in “Developmental Cell” This study found that Brg1, a chromatin-remodeling enzyme, plays a critical role in hair regeneration and early epidermal repair by regulating bulge stem cells through a Brg1-Shh interaction.
52 citations
,
October 1999 in “Developmental Dynamics” This study found that the hairless gene in mice has a more extensive role in development than previously thought, as indicated by its expression in various tissues and associated abnormalities in hr/hr mutants.
51 citations
,
November 2011 in “British Journal of Dermatology” This study suggests that the HDAC9 gene is a third susceptibility gene for male-pattern baldness, with significant associations found in both German and Australian samples.
50 citations
,
September 2014 in “Stem cell reports” In this study, BLIMP1 was found to function in terminally differentiated epidermal cells to maintain homeostasis, rather than defining a sebocyte progenitor population.
50 citations
,
May 2004 in “Journal der Deutschen Dermatologischen Gesellschaft” This review discusses the role of estrogens in hair follicle cycling and the skin, highlighting the need for more research on estrogen signaling pathways and their interactions with other factors in hair biology.
48 citations
,
February 2016 in “Scientific Reports” This study reports the creation of rat liver stem cell lines that can differentiate into hepatocytes and suggests they might be useful for pharmacological and regenerative medicine applications.
48 citations
,
July 1996 in “Human & Experimental Toxicology” Human enzymes can detoxify harmful substances but might also increase their cancer risk.
47 citations
,
September 2016 in “Reviews in endocrine and metabolic disorders” This review discusses the steroidogenic properties of human skin and suggests that impaired steroidogenesis may be linked to conditions like acne, rosacea, atopic dermatitis, and androgenic alopecia, but reports no new clinical results.
47 citations
,
March 2016 in “Journal of dermatology” This review discusses various rare syndromes associated with ichthyosis and emphasizes the importance of understanding their molecular genetics and mechanisms for developing effective treatments and genetic counseling, but it reports no new clinical findings.
47 citations
,
February 2015 in “European Journal of Clinical Investigation” This review discusses Chrousos syndrome, a rare condition caused by NR 3C1 gene mutations leading to glucocorticoid resistance, and reports no new clinical results; early identification and genetic testing are recommended for diagnosis.
47 citations
,
May 1995 in “Journal of Investigative Dermatology” Hair follicles in people with alopecia have lower levels of a key blood vessel growth protein.
46 citations
,
September 2011 in “Journal of Endocrinology” This study suggests that 5α-reduced glucocorticoids may have anti-inflammatory potential and could serve as biomarkers for liver inflammation in metabolic disease, with implications for drug development.
46 citations
,
December 2010 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that Acvr1b signaling is crucial for both hair follicle development and cycling in mice, with the genetic disruption leading to hair loss and a thickened epidermis.
45 citations
,
August 2010 in “Hormone Molecular Biology and Clinical Investigation” This study found that SRD5a-3 is a highly efficient enzyme for converting hormones into androgens, with dutasteride being a much more potent inhibitor of SRD5a-3 than SRD5a-2.
43 citations
,
August 2018 in “Cell Stem Cell” This study found that Hoxc gene expression can reprogram mesenchymal dermal papilla cells, enhance epithelial stem cell regenerative potential, and promote region-specific hair follicle regeneration through Wnt signaling.