April 2019 in “Journal of Investigative Dermatology” This study demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.
3 citations
,
February 2018 in “Experimental and Molecular Medicine/Experimental and molecular medicine” This study suggests that hair loss disorders like Marie Unna hereditary hypotrichosis may result from mutations that disrupt post-transcriptional regulation of HR protein expression by PCPB2 interacting with Hr mRNA.
57 citations
,
August 1997 in “Pediatrics International” This abstract discusses two types of hereditary vitamin D metabolism defects, VDDR I and VDDR II, and reports on their distinct characteristics and treatment responses, without presenting new clinical data.
1 citations
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April 2021 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified the NAC transcription factor RD26 as a critical regulator of drought-induced root hair growth restriction in Arabidopsis thaliana, with a similar mechanism observed in tomatoes, indicating evolutionary conservation.
13 citations
,
June 2017 in “Biochimie open” This study determined that the human steroid 5α-reductase enzymes localize to the endoplasmic reticulum in HeLa cells, with protein tagging affecting expression and inducing protein aggregates for some isoforms.
67 citations
,
August 2004 in “Endocrinology” This study identified a novel I268T mutation in the vitamin D receptor that reduces its function, contributing to hereditary vitamin D-resistant rickets, and found that a potent vitamin D analog could improve receptor function.
March 2026 in “Journal of Investigative Dermatology”
September 2022 in “Research Square (Research Square)” This study found that overexpressing Rps14 in supporting cells promoted hair cell regeneration in the organ of Corti by facilitating cell proliferation and differentiation.
January 2015 in “OpenBU/Boston University Institutional Repository (Boston University)” This study reported that NRP2 expression in melanocytes and melanocyte stem cells is linked to migration inhibition and potentially melanoma progression, suggesting its role as a target for understanding melanoma and hair follicle biology.
This study identified novel mutations associated with ectodermal dysplasias in Pakistani families, including a missense mutation in the KRTHB5 gene linked to pure hair-nail ectodermal dysplasias and mutations in the EDAR gene related to hypohidrotic ectodermal dysplasia.
October 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study investigated NNAT expression in embryonic and postnatal rat tissues, finding its localization in both undifferentiated and differentiated cells across tissues such as the pancreas, tongue, and testis.
9 citations
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July 2020 in “Cell Proliferation” In this study, EREG promoted hair growth by activating specific receptors in cell and animal models, indicating it may be a potential treatment for hair loss.
208 citations
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November 2000 in “Development” This study found that while Eda and Edar proteins interact in vitro, their roles in dental development differ, with downless mutant mice showing distinct tooth defects compared to tabby mutants.
CaBP1 and 2 are necessary for maintaining calcium currents and hearing in inner ear cells.
51 citations
,
December 2006 in “Mammalian Genome”
January 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a new cis-regulatory element in the mouse Hr gene that influences its expression in skin and brain cells, highlighting a complex molecular network involved in hair follicle formation.
13 citations
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February 2025 in “Nature Communications” In this study, a deep neural network model called regX was developed to prioritize driver regulators for cell state transitions by incorporating gene-level regulation and interactions, showing potential therapeutic targets in type 2 diabetes and hair follicle development when applied to single-cell multi-omics data.
April 2016 in “Journal of Investigative Dermatology” This study found that increasing En1 expression in mouse epidermis can convert cutaneous appendages to eccrine sweat glands, suggesting a role for En1 in eccrine gland development.
June 2011 in “Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)” The researchers reported that both estrogen receptors ERα and ERβ are expressed in human testis, and identified two novel genes, Aven and Regucalcin, linked to estrogen and androgen regulation, which may be crucial for spermatogenesis.
27 citations
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October 2011 in “British Journal of Dermatology” This study builds on previous findings by associating female pattern hair loss with gene polymorphisms related to oestrogen activity, suggesting oestrogen's role in the condition.
12 citations
,
December 2020 in “Archives animal breeding/Archiv für Tierzucht” This study found that EDA and EDAR are expressed throughout cashmere goat fetal development and play a critical role in hair follicle formation by influencing gene expression in fibroblasts and epithelial cells.
76 citations
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May 2011 in “Cell death and differentiation” This study found that the enzyme A20 helps regulate EDAR-induced NF-κB signaling in mice, preventing ectodermal abnormalities like disheveled hair and assuring proper skin and appendage development.
5 citations
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September 2015 in “BMC Medical Genetics” In this study, individuals with a c.1072C > T mutation in the EDAR gene showed more hair shaft deformations compared to non-mutation carriers, highlighting EDAR's role in hair follicle development.
56 citations
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November 2007 in “Molecular and cellular endocrinology” This study identified enzymes responsible for regulating androgen action in the human prostate, suggesting that inhibiting AKR1C2 or RL-HSD may have therapeutic potential in androgen insufficiency or benign prostatic hyperplasia, respectively.
January 2026 in “BMC Veterinary Research” The researchers reported finding a recessive nonsense variant in the EGFR gene responsible for perinatal lethality in the "Blonde d'Aquitaine" cattle breed, prompting the development of a screening test to help eradicate this genetic flaw.
April 2018 in “DSpace@MIT (Massachusetts Institute of Technology)” Nephronectin is linked to worse outcomes in breast cancer and helps cancer spread.
1 citations
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April 2023 in “Frontiers in Genetics” This report on individuals with AEBP1-related classical-like EDS confirmed previous findings and identified hair loss as a potential characteristic feature of this rare condition for the first time. Additionally, cardiovascular complications observed in some individuals suggest that cardiovascular monitoring may be necessary.
10 citations
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February 2021 in “PLoS biology” This study found that corin, a protease, plays a crucial role in eccrine sweat glands by promoting sweat and salt excretion, which helps regulate electrolyte balance.
This review summarizes the proposed model that describes how different shapes of 1alpha,25(OH)2D3 ligands interact with the vitamin D receptor to mediate genomic and rapid responses in cells.
80 citations
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April 2017 in “Frontiers in Pharmacology” This review examines experimental and clinical evidence on PDRN, a drug derived from salmon DNA that acts via the adenosine A2A receptor and shows promise for tissue repair and treatment of diabetic foot ulcers in regenerative medicine.