March 2024 in “Frontiers in endocrinology” This study reports the first case of mandibuloacral dysplasia syndrome associated with MTX2 gene mutation in the Chinese population, expanding the known spectrum of MTX2 mutations.
37 citations
,
August 2014 in “Journal of experimental botany” This study identified the AtPRPL1 gene in Arabidopsis thaliana as being involved in cell elongation processes, despite unclear changes in cell wall composition from its altered expression.
33 citations
,
February 2016 in “Journal of Experimental Botany” This study found that the receptor kinase RHS10 negatively regulates root hair growth in Arabidopsis thaliana by modulating growth duration and is associated with cell wall signal mediation, involving RNA catabolism and ROS accumulation.
260 citations
,
July 2010 in “Cell” This study identifies mutations in the SRD5A3 gene as a cause of a new type of congenital disorder of glycosylation, impacting mental, ophthalmologic, and cerebellar functions.
22 citations
,
August 2013 in “PLOS ONE” This study found that using a non-invasive multielectrode array for gene electrotransfer in hairless guinea pigs increased gene expression in the epidermis significantly, with minimal skin changes observed.
1 citations
,
March 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that AtCEPs in Arabidopsis thaliana play a role in controlling root hair growth by processing EXT proteins, with NAC1 acting to regulate their expression and influence elongation.
1 citations
,
July 2022 in “Вопросы современной педиатрии” This review discusses progeria, focusing on its pathogenesis, major symptoms, and management strategies, and includes a clinical case of a girl with the disease confirmed by genetic testing; it reports no new clinical results.
1 citations
,
April 2016 in “CRC Press eBooks” Skin aging reflects overall body aging and can indicate internal health conditions.
May 2026 in “The EMBO Journal” This study explores the complex mechanisms of skin aging, including cellular senescence and disrupted communication, and highlights rejuvenation strategies like gene expression rewiring and microbiome modulation, offering potential frameworks for regenerative therapies and precise interventions in skin and systemic aging.
November 2023 in “Frontiers in cell and developmental biology” This source reviews mechanisms and existing treatments for hair aging, highlighting factors like oxidative stress and DNA repair defects that affect hair follicle and stem cell function, and discusses research limitations and future directions in the field.
November 2019 in “Harper's Textbook of Pediatric Dermatology” This index of Harper's Textbook of Pediatric Dermatology, Fourth Edition, provides no clinical results or new findings.
September 2016 in “Journal of Dermatological Science” This study reports a case of GGCX syndrome in a 55-year-old Japanese male, characterized by PXE-like symptoms and coagulation deficiency, with an unreported phenotype of possible spinocerebellar degeneration.
4 citations
,
January 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified the genes for pyochelin siderophore biosynthesis as a novel target regulated by the heme-responsive PrrH sRNA in Pseudomonas aeruginosa.
December 2022 in “Archives of Clinical Trials” In this case series study, mild ovarian hyperstimulation syndrome was reported in only one out of 118 PCOS patients receiving highly purified HMG injections for IVF treatment.
126 citations
,
October 1998 in “Experimental Dermatology” This review provides an overview of the hairless gene in mice and humans, discussing its structure, expression, and implications for understanding skin physiology and human disorders related to gene disruption, but it reports no new empirical findings.
6 citations
,
June 2016 in “Journal of cellular biochemistry” This study found that the mammalian Hr protein can interact with the p53 pathway by binding to a specific p53 response element, influencing the regulation of genes involved in cell cycle control.
A new mutation in the TRPS1 gene caused Trichorhinophalangeal syndrome in a 17-year-old, highlighting the need for genetic testing.
3 citations
,
March 2016 in “Experimental Dermatology” This study found that a hypomorphic mutation in the Hr gene contributes to the development of diet-induced pruritic atopic skin in mice, particularly when combined with dietary deficiencies of polyunsaturated fatty acids and starch.
11 citations
,
October 2023 in “mSphere” This study reported that the PrrH sRNA in *Pseudomonas aeruginosa* may directly regulate genes involved in pyochelin siderophore biosynthesis, highlighting its role in adapting to heme availability, with light conditions influencing this gene expression.
January 2008 in “US endocrinology” This paper describes the hGRα gene structure and its expression, focusing on the functional properties of the longest GRα isoform, but reports no new results.
1 citations
,
December 2018 in “Journal of genetic medicine” In this case report, a 20-year-old male with tricho-rhino-phalangeal syndrome was found to have a de novo frameshift mutation in the TRPS1 gene, highlighting the challenges in diagnosing this rare disorder.
48 citations
,
January 2011 in “Hormone Research in Paediatrics” This review discusses the molecular basis and clinical implications of primary generalized glucocorticoid resistance and hypersensitivity, attributing them to mutations in the human glucocorticoid receptor gene, and reports no new clinical findings.
546 citations
,
February 2008 in “PLANT PHYSIOLOGY” This study found that overexpression of OsPHR2 in rice leads to increased phosphate accumulation and root architecture changes even under phosphate-sufficient conditions.
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.
9 citations
,
January 2011 in “EXPERIMENTAL ANIMALS” This study describes a novel hairless mutant rat strain, F344-Hr(krh), developed via ENU mutagenesis, which provides a model for skin disease and potentially focal glomerulosclerosis due to specific genetic mutations.
1 citations
,
November 2023 in “Rice” This study found that PRX102, a peroxidase with a unique polar localization pattern, plays a role in root hair growth by aiding the transport of materials to the tips of growing root hairs.
216 citations
,
June 2015 in “PLANT PHYSIOLOGY” This study found that OsPHR3 overexpression in rice led to significant tolerance to low-phosphorus stress and normal growth under normal conditions, suggesting its potential for improving phosphorus uptake efficiency.
7 citations
,
June 2015 in “European Journal of Plastic Surgery” This retrospective study found that treatment with autologous plasma rich in growth factors increased hair density and improved hair follicle health in patients with androgenetic alopecia, with no reported adverse effects.
April 2025 in “Antioxidants” In this study, the researchers found that the water-soluble fraction of Rhus semialata gall extract and its component Penta-O-Galloyl-β-D-Glucose promoted hair growth in human dermal papilla cells, and clinical trials supported these findings, showing improved hair density and appearance compared to placebo.
This case series reports favorable outcomes for children with Parry Romberg Syndrome who underwent facial fat-grafting, showing it as a safe and well-tolerated procedure with no complications or relapses observed.