25 citations
,
January 2000 in “Hormone Research in Paediatrics” This article reviews androgen insensitivity syndrome and highlights the factors contributing to phenotypic diversity in 46,XY patients with AR gene mutations, reporting no new clinical results.
24 citations
,
March 2017 in “Archives of Gynecology and Obstetrics” The study found that women with hyperandrogenic PCOS have higher levels of AKT1 and AKT2 proteins in their cells, which may lead to cell dysfunction.
24 citations
,
May 2019 in “PLOS genetics” This study reports that compound heterozygous loss-of-function mutations in the HEPHL1 gene in a child were associated with abnormal hair and cognitive issues, linking altered ferroxidase activity to hair disorders.
24 citations
,
July 2017 in “Structure” In this study, researchers found that ligand homodimerization controls the receptor binding specificity of the FGF9 subfamily, preventing off-target activation of FGFR "b" isoforms.
23 citations
,
December 2017 in “Scientific Reports” This study found that the ARL15 gene affects adipocyte differentiation and adiponectin secretion, and suggests that ARL15 haploinsufficiency may predispose individuals to lipodystrophy.
21 citations
,
January 2018 in “Anticancer Research” This study suggests that NBCCS and BFHS may be the same genetic condition, which could help improve identification and management of misdiagnosed cases with specific surveillance strategies.
21 citations
,
October 2013 in “Molecular Biology of the Cell” This study found that the protein CCN2 in dermal papilla cells is a physiologically relevant suppressor of hair follicle formation by destabilizing β-catenin, which may help maintain stem cell quiescence.
21 citations
,
June 2016 in “Genesis” This study identified a gene expression signature in mouse embryonic dermal fibroblasts that depends on Wnt/β-catenin activity, potentially influencing dermal fibroblast identity and function.
18 citations
,
February 2022 in “Cell Death Discovery” In this study, researchers found that hair follicle-derived mesenchymal stem cells, modified to overexpress extracellular matrix protein 1, significantly improved liver function and reduced liver damage in cirrhotic mice by inhibiting hepatic stellate cell activation and TGF-β/Smad signaling.
13 citations
,
September 2018 in “Scientific Reports” In this study, researchers found that microRNAs and specific target genes, such as MiR-195 and genes like CHP1, SMAD2, FZD6, and SIAH1, play significant roles in regulating hair follicle initiation in cashmere goats.
13 citations
,
July 2012 in “Pigment Cell & Melanoma Research” In this study, researchers identified a new dominant mutation in Hairless mice, called Pied, resulting from a deletion in the Adam10 gene, which causes freckle-like skin pigmentation by inhibiting melanocyte expansion.
13 citations
,
March 2020 in “Genes” This study found that FGF5-/- rabbits exhibited a significant long hair phenotype by prolonging the anagen phase, suggesting FGF5 acts as a negative regulator of hair growth.
13 citations
,
November 2012 in “PLoS ONE” This study identified a novel recessive mutation in mice causing lethal congenital lamellar ichthyosis, with skin and hair follicle alterations similar to human congenital ichthyoses, linked to a specific genetic defect affecting Fatp4.
12 citations
,
February 2021 in “Translational Psychiatry” This study identified two novel genetic variants associated with Alzheimer's disease in APOE ε4 non-carriers, revealing insights into the disease's underlying regulatory mechanisms.
12 citations
,
November 2014 in “Bioscience, Biotechnology, and Biochemistry” In this study, the researchers successfully increased dipicolinic acid production in Bacillus subtilis by genetically modifying the spoVF operon, achieving a significant productivity improvement in the culture medium.
12 citations
,
December 2012 in “Current Drug Targets” The Androgen Receptor could be a target for treating diseases like cancer, but more research is needed to confirm the effectiveness of potential treatments.
11 citations
,
September 2021 in “Journal of molecular endocrinology” This review discusses differences in ERβ signaling between rodents and humans and reports no new clinical results; the authors highlight the need for further research in humans before using ERβ agonists clinically.
11 citations
,
June 2016 in “npj Regenerative Medicine” This symposium discussed why regenerative capacity varies among species and diminishes with age, exploring how these insights could inform regenerative medicine approaches, without presenting new experimental results.
11 citations
,
March 2019 in “EMBO molecular medicine” This paper reviews the role of endoplasmic reticulum stress and the unfolded protein response in Hutchinson-Gilford progeria syndrome-related atherosclerosis, especially in vascular smooth muscle cells, but reports no clinical findings; intervention in these pathways is suggested as a potential therapeutic strategy.
11 citations
,
April 2013 in “Journal of Proteomics” This study identified proteins that are differentially expressed in balding versus non-balding dermal papilla cells, potentially aiding the understanding and treatment of androgenetic alopecia.
11 citations
,
August 2010 in “Developmental neurobiology” This study suggests that Ptprq in the hair bundles may exist as multiple isoforms that are differentially expressed throughout development and affect the organization of stereocilia in the chick inner ear.
10 citations
,
March 2019 in “Human Genetics” This study identified a genetic variant in the SGK3 gene related to hairlessness in Scottish Deerhounds, suggesting a similar role for androgen-independent hair loss in humans.
10 citations
,
June 2005 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified FP-1 as a highly specific extracellular matrix protein in follicular papilla cells, which may play a role in hair growth regulation during specific hair cycle phases.
9 citations
,
March 2011 in “Current Pharmaceutical Biotechnology” This review discusses current stem cell technologies, their potential therapeutic uses, and imaging techniques for tracking transplanted cells, without reporting new experimental results.
9 citations
,
May 2005 in “Expert Review of Clinical Immunology” This article examines anticytokine therapies for autoimmune diseases, highlighting the potential of anti-interferon-γ as a universal treatment for certain conditions and noting varying effectiveness of tumor necrosis factor-α inhibitors.
8 citations
,
June 2021 in “International Journal of Molecular Sciences” In this study, UCMSC exosomes showed protective effects against cisplatin-induced hearing loss in mice by improving hearing and promoting cochlear tissue repair.
8 citations
,
May 2017 in “IUBMB life” This review discusses the role of astrotactins in development and their genetic mutations' links to a variety of human diseases, but reports no new clinical results.
8 citations
,
March 2015 in “Neuromuscular Disorders” This study found that adult patients with Myotonic Dystrophy type 1 exhibited a higher prevalence of various morphofunctional, inflammatory, and proliferative skin disorders compared to healthy controls.
8 citations
,
June 2012 in “PloS one” This study found that the Plcd3(mNab) mutation in mice worsens the alopecia caused by Plcd1 loss, suggesting synergistic effects between Plcd1 and Plcd3 on hair follicle health.
7 citations
,
August 2020 in “Animal biotechnology” This study found that lncRNA-599547 positively regulates the expression of the Wnt10b gene by interacting with miR-15b-5p, enhancing the inductive property of dermal papilla cells in cashmere goats.