74 citations
,
October 2012 in “The American Journal of Human Genetics” This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.
January 2022 in “International journal of dermatology and venereology” This case study reports a 36-year-old man with KID syndrome caused by an N14Y GJB2 mutation, expanding the mutation spectrum of this condition in the Chinese population.
5 citations
,
September 2011 in “Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease” Hairless protein helps control hair growth by regulating vitamin D receptor activity.
7 citations
,
November 2007 in “Differentiation” This study found that NF-κB's p65/RelA subunit can directly activate hair keratin genes, suggesting a new role in hair formation that may inform the understanding of ectodermal dysplasias.
1 citations
,
April 2015 in “The FASEB Journal” This study found that perinatal androgen deprivation in male rats increased serum estrogen levels and enhanced exploratory behavior, indicating that elevated estrogen may affect brain sex differentiation and related behaviors.
6 citations
,
July 2018 in “Steroids” This study found that testosterone significantly influenced the expression and function of certain ion transporters in the vas deferens, impacting fluid secretion and contributing to a suitable environment for male fertility.
5 citations
,
July 2017 in “International journal of endocrinology and metabolism/International journal of endocrinology and metabolism.” This study described the clinical and genetic features of two Iranian siblings with hereditary vitamin D resistant rickets, identifying a specific VDR gene mutation contributing to their symptoms.
52 citations
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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.
This research investigated the role of EphA1 in embryonic and adult tissues, generating mouse models suggesting potential links to skin and colon cancer, sepsis, and post-traumatic injury.
39 citations
,
April 2018 in “Hormones” This review suggests that most mutations in the SRD5A2 gene show no clear genotype-phenotype correlation in 5-α-Reductase deficiency, although mutation location affects severity.
13 citations
,
July 2016 in “Indian Journal of Dermatology” This report describes two Saudi brothers with dermatopathia pigmentosa reticularis who exhibited normal hair shafts despite their condition.
August 2026 in “Ebers Papyrus” This study concluded that allele-specific PCR (AS-PCR) is more reliable than tetra-primer ARMS-PCR for genotyping the SNP rs1998076 due to better stability and interpretability.
50 citations
,
August 2019 in “Cell Communication and Signaling” This study identifies NFAT5 as a crucial transcription factor necessary for triggering innate immune responses in the blood vessel lining that lead to atherosclerosis under hypertonic stress conditions.
42 citations
,
February 1998 in “The Journal of Steroid Biochemistry and Molecular Biology” This study found that PNU 157706 is a highly potent inhibitor of human 5α-reductase enzymes, showing a stronger and longer-lasting antiprostatic effect in rats compared to finasteride.
172 citations
,
March 2019 in “The EMBO Journal” This study found that in Arabidopsis thaliana, the interaction between extracellular leucine-rich repeat extensins and the receptor-like kinase FERONIA helps control vacuolar expansion, crucial for cellular elongation.
April 2019 in “Journal of Investigative Dermatology” This study found that BRG1 is crucial for keratinocyte migration during skin wound healing, as its suppression impairs wound closure by inhibiting migration without affecting cell proliferation or apoptosis.
7 citations
,
March 2023 in “The Journal of Biochemistry” This study suggests that LONRF1 may play a vital role in linking oxidative damage responses and tissue remodeling during wound healing, with distinct mechanisms in senescent and non-senescent cells.
14 citations
,
October 2000 in “Genomics” This study demonstrated that dermal papilla cells are molecularly distinct from fibroblasts and identified many novel molecules, including a new member of the CTGF protein family.
July 2008 in “VTechWorks (Virginia Tech)” This study suggests that PrPC plays a role in the differentiation of mouse embryonic stem cells during neurogenesis, impacting neural progenitor cell development.
1 citations
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April 2023 in “Science Advances” This study found that sustained ERK activity during tissue regeneration in spiny mice is linked to fibroblast growth factor and ErbB signaling, while inhibiting ERK shifted regeneration toward scarring.
April 2010 in “The Journal of Urology” This study found that ureteroileal anastomosis with direct intraluminal visualization had a 4.2% stricture rate, which compares favorably to other techniques with rates between 3.5% and 11.1%.
1 citations
,
November 2024 in “Diabetes Metabolic Syndrome and Obesity” In this study, researchers found that a specific genetic variant in the INSR gene is linked to severe insulin resistance and hyperandrogenemia in type A insulin resistance syndrome, suggesting the benefit of exon sequencing for accurate diagnosis and treatment.
6 citations
,
March 1996 in “Journal of Investigative Dermatology”
53 citations
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January 2011 in “Diabetes” The study found that severe insulin resistance and premature diabetes are common in patients with PCNT genetic defects, primarily affecting those over four years old, while not impacting early insulin signaling in adipocytes.
9 citations
,
December 2023 in “Journal of Neuroimmune Pharmacology” This study found that systemic administration of NDP-MSH, a melanocortin receptor agonist, provided neuroprotective effects on dopaminergic nigrostriatal neurons in a mouse model of Parkinson's disease, reducing neuroinflammation and suggesting a role for regulatory T cells in these neuroprotective effects.
303 citations
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October 2000 in “Nature” This study found that RXRα plays a critical role in hair cycling and keratinocyte functions in mice, likely through its interaction with VDR in epidermal cells.
1 citations
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June 2023 in “Animals” In this study, researchers found that overexpression of CRABP2 enhanced the proliferation of dermal papilla cells in Hu sheep through activation of the Wnt/β-catenin pathway, even when the pathway was inhibited.
September 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, FOL-026, a peptide based on osteopontin, was shown to promote angiogenesis and stimulate vascular cell proliferation and migration through neuropilin-1, similar to VEGF, suggesting potential therapeutic applications in vascular repair and angiogenesis-related conditions.
March 2011 in “European Urology Supplements” Gene variation affects prostate issues and hair loss.
April 2018 in “Journal of Investigative Dermatology” This study found that the RNA helicase DDX6 is essential for maintaining self-renewal in epidermal progenitor cells by promoting the translation of proliferation regulators and degrading differentiation-inducing mRNAs.