8 citations
,
March 2007 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports that the near-naked hairless mutation in mice is not an allele of the Hairless gene but may involve a mutation in a linked gene or a regulatory mutation.
36 citations
,
November 2018 in “BMC plant biology” This study suggests that ROXYs and reactive oxygen species are likely involved in the signaling pathways plants use to respond to nitrate deprivation.
45 citations
,
January 2010 in “Journal of Veterinary Medical Science” This study identified a mutation in the keratin 71 gene that causes curly hair in certain rats, advancing our understanding of hair formation.
1 citations
,
September 2021 in “Cureus” This study found that the rs1128977 SNP in the RXRG gene may be linked to altered clinical characteristics such as higher HDL-cholesterol levels and increased body mass index in individuals with dyslipidemia.
151 citations
,
June 2010 in “Endocrinology and metabolism clinics of North America” This article compares two rare genetic diseases, vitamin D-dependent rickets type 1 and type 2, focusing on their similar presentations of hypocalcemia and rickets in infancy, but reports no new clinical results.
33 citations
,
August 2000 in “Experimental Cell Research”
April 2024 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers identified a gene regulatory network in Arabidopsis that controls root hair growth under low-temperature conditions, revealing specific transcription factors and downstream targets that contribute to this growth response despite overall plant development being halted.
December 2005 in “Science s STKE” This study reports that localized Rho GTPase activity and ROS production play a critical role in polarized growth and movement in both migrating endothelial cells and developing plant root hairs.
18 citations
,
January 2008 in “Journal of The American Academy of Dermatology” This study found that the proteins GDNF, NTN, GFRα-1, GFRα-2, and c-Ret are differentially expressed during various stages of the human hair follicle cycle, with potential implications for hair biology.
7 citations
,
June 2016 in “Bone Research” In this study, a Chinese Han family with hereditary vitamin D-resistant rickets was found to have a homozygous missense mutation in the VDR gene, and the affected individual uniquely responded well to treatment with oral calcium and low-dose calcitriol.
16 citations
,
May 2000 in “Endocrinology” This study identified a new gene, mrp4, in mice, which suggests it may have a unique role in the growth and development of hair follicles in the ears and tails.
2 citations
,
May 2023 in “Journal of Advanced Research” In this study, researchers identified two genetic mutations associated with producing finer and denser wool in fine-wool sheep, involving the genes KRT74 and EDAR, which may guide future breeding efforts to enhance wool quality.
5 citations
,
April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports on an ongoing Phase I/IIa clinical trial of ex vivo gene therapy for treating severe Recessive Dystrophic Epidermolysis Bullosa, involving six adult participants with COL7A1 mutations resulting in deficient type VII collagen production.
64 citations
,
March 2004 in “The journal of investigative dermatology/Journal of investigative dermatology” This study describes GPRC5D's unique expression pattern in tissues that produce hard keratin, with retinoic acid inducing its expression in hair bulb cells and affecting keratin gene regulation.
This study identified the TALE homeodomain transcription factor Meis2 as a crucial regulator for the maturation and end-organ innervation of certain mechanoreceptors in mice, with its absence leading to altered sensory neuron structure and impaired touch sensitivity.
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.
6 citations
,
June 2018 in “Journal of pediatric endocrinology & metabolism/Journal of pediatric endocrinology and metabolism” In this study, eight patients with hereditary vitamin D-resistant rickets who share a specific VDR mutation showed improved clinical symptoms except alopecia after up to 11 years of treatment.
5 citations
,
February 1977 in “Archives of Dermatology” This study reports that 14 of 19 patients with erythema nodosum leprosum had C3 deposits in vessel walls when examined using direct immunofluorescence.
21 citations
,
April 2014 in “PLoS ONE” In this study, researchers identified a novel KRT74 gene mutation associated with autosomal recessive pure hair and nail ectodermal dysplasia in a Pakistani family, expanding the known genetic causes of the disorder.
178 citations
,
October 2001 in “Genes & Development” This study found that the mammalian hairless gene encodes a corepressor protein that interacts with thyroid hormone receptors, providing insights into hair loss syndromes in humans and mice.
February 2018 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that distinct spiny hair morphologies in rodents arose independently multiple times but did not link the Ecdysoplasin A receptor gene mutation that affects human hair to these variations.
7 citations
,
May 2022 in “Cancers” This study found that UC.145 influences DKK1 methylation and Wnt signaling in gastric cancer, with implications for patient survival and its potential as a predictive biomarker.
27 citations
,
December 2013 in “Endocrinology” This study established a mouse model for Cushing's syndrome due to a specific Crh mutation, which may help explore the effects of glucocorticoid excess and evaluate treatments for corticosteroid-induced osteoporosis.
73 citations
,
April 2013 in “Stem cells” This study found that LGR5 is uniquely expressed in human corneal endothelial cells and maintains endothelial cell phenotypes while inhibiting mesenchymal transformation through the Wnt pathway.
12 citations
,
February 1998 in “Gene” This study identified two high sulfur protein genes, B2E and B2F, in rats, which are expressed in hair cortical cells during anagen and contribute to hair fiber production.
7 citations
,
August 2021 in “Open Access Macedonian Journal of Medical Sciences” In this case–control study, the researchers in Ukraine found no significant link between VDR rs2228570 polymorphism and decreased serum BDNF levels, though they observed a moderate correlation between serum BDNF and 25-OH Vitamin D levels in patients with thyroid disorders.
8 citations
,
June 2001 in “Journal of Biological Chemistry” This study found that the truncated hHb1-DeltaN transcript in breast cancer cells is produced by a cryptic intron promoter and responds to DNA demethylation, potentially altering cancer cell adhesion.
24 citations
,
January 1989 in “Archives of biochemistry and biophysics” This study found that androgen binding in male rat livers involves specific androgen receptors, which decrease with castration and are inducible in female livers with testosterone.
24 citations
,
February 2011 in “The American journal of pathology” This study found that AIRE, a usually nuclear protein, is expressed in the cytoplasm of human epidermal and follicular keratinocytes and associates with the intermediate filament protein cytokeratin 17, potentially impacting ectodermal abnormalities in APECED syndrome.
8 citations
,
August 2022 in “BMC Veterinary Research” This study found that C57BL/6 mice and Sprague–Dawley rats show distinct distributions of eccrine sweat glands and hair follicles in their volar skin, suggesting these models should be selected according to research focus on skin appendages.