June 2020 in “Zenodo (CERN European Organization for Nuclear Research)” This review discusses Robertsonian chromosomal translocations and their prevalence in the population, highlighting their association with infertility, and reports no new clinical results.
19 citations
,
August 2013 in “Journal of Molecular Neuroscience”
7 citations
,
January 2022 in “Plants” This study found that extracts from the rice variety Bue Bang 3 CMU, particularly the husk and bran, demonstrated antioxidant, anti-inflammatory, and anti-androgenic properties, suggesting potential use in treating androgenetic alopecia.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that deleting all three Tet genes in mice led to shorter hair shafts and altered hair types, with associated changes in gene expression and DNA hydroxymethylation.
January 2002 in “Agritrop (Cirad)” This study found that mutations in exon 3 of the hr gene are strongly associated with congenital hypotrichosis in Valle del Belice sheep, suggesting a potential genetic link to the disorder.
77 citations
,
April 2004 in “Gene expression patterns” This study observed specific expression patterns of three zebrafish estrogen receptor genes during development, highlighting robust co-expression of esr2a and esr2b in primary neuromasts, branchial arches, and other tissues.
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.
59 citations
,
November 2011 in “Development” This study found that the transcription factor Trps1 acts as a novel regulator of the Wnt signaling pathway and early hair follicle progenitors in developing vibrissa follicles in mice.
54 citations
,
April 2019 in “Journal of cellular physiology” In this study, miR-218-5p was found to enhance hair shaft growth and positively regulate the Wnt signaling pathway by targeting SFRP2 during skin and hair follicle development.
29 citations
,
January 2003 in “Genomics” A new mouse mutation causes skin and hair issues, influenced by another gene.
November 2022 in “Journal of Investigative Dermatology” This study developed a novel method to analyze the effects of COL7A1 mutations using mRNA from peripheral blood mononuclear cells, aiding genetic diagnosis and potential therapies for dystrophic epidermolysis bullosa.
71 citations
,
June 2005 in “Journal of Investigative Dermatology” This study demonstrates that PAD1 and PAD3 are involved in hair follicle differentiation, while PAD1 and PAD2 may play a role in the physiology of sweat glands and arrector pili muscles.
17 citations
,
February 2016 in “Experimental Dermatology” This study found that SFRP2 enhances Wnt3a-mediated β-catenin signaling in human dermal papilla cells, with higher SFRP2 expression in beard cells correlating with increased trichogenicity.
166 citations
,
September 2011 in “The Journal of Cell Biology” This study found that the p63 transcription factor plays a role in epidermal morphogenesis by regulating Satb1 expression, impacting chromatin architecture and gene expression in epidermal progenitor cells.
December 2021 in “Figshare” This study found that BBS7 is important for Sonic hedgehog signaling activity, which may be crucial for maintaining periodontal ligament homeostasis in occlusal hypofunction.
14 citations
,
September 1999 in “Journal of Investigative Dermatology” Lack of TrkC receptor delays hair follicle development.
December 2023 in “JCEM case reports” In this study, researchers identified a novel genetic variant in the NR3C1 gene in a mother and her son that predicts a truncated protein, leading to glucocorticoid resistance syndrome with mild hyperandrogenic features, although no clear genotype-phenotype correlation has been established.
2 citations
,
January 1993 This study found that human trichohyalin has a unique protein sequence potentially contributing to at least three important functions in hair follicle and epidermal cells.
April 2023 in “Advanced functional materials” This study created a Wnt3a protein gradient using Multiphoton Microfabrication technology, which improved hair-inductive properties in mouse and human hair dermal papilla cells, suggesting potential applications in hair regeneration research and drug screening.
12 citations
,
June 2013 in “Gene” This study identified seven gene sequences related to Type III Brush Hair formation in Yangtze River Delta white goats, contributing to our understanding of hair growth and follicle cycles.
September 2016 in “Journal of Dermatological Science” This study investigated the mechanism responsible for pili torti formation in Björnstad syndrome using a transmission electron microscope, but did not establish a definitive explanation.
33 citations
,
September 1987 in “American Journal of Medical Genetics” This study documents dominant transmission and complete penetrance of uncombable hair syndrome in a family, despite the father lacking visible abnormalities.
This study suggests that keratin 15 and Id3 proteins play distinct roles in epithelial and dermal cell activities during the regeneration stages of rat vibrissae hair follicles.
27 citations
,
November 2007 in “Genomics” This study found that mutations in type I IRS keratin genes disrupt keratin protein complexes in mice, suggesting crucial roles for these genes in proper hair coat formation.
26 citations
,
April 2011 in “British Journal of Dermatology” This study identified novel mutations in the DSG4 gene in a Japanese patient with monilethrix, affecting protein interactions that may disrupt hair shaft structure.
2 citations
,
May 2020 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes a family where a TP63 mutation was linked with prominent alopecia and mild ectodermal dysplasia features.
21 citations
,
January 2000 in “Fetal Diagnosis and Therapy” This study found that trichothiodystrophy can be diagnosed prenatally in the second trimester using an endoscopically-guided fetal eyebrow biopsy, with sulfur content analysis being the most reliable test.
December 2022 in “Frontiers in plant science” This study identifies two new proteins, CCDC22 and CCDC93, essential for root and root hair growth in Arabidopsis, and demonstrates their genetic link to a VTI13-dependent vacuolar trafficking pathway.
5 citations
,
February 1998 in “Polymer” Human hair keratin has a 40% α-helix structure that changes to a random coil in 8 M urea.
In this study, researchers developed a photocurable polyurethane resin for 3D printing, creating high-resolution elastomeric microwell arrays that effectively promote uniform spheroid formation and growth of A549 cells, which could aid in disease modeling and organoid research.