1 citations
,
September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.
11 citations
,
April 2019 in “Bioscience Reports” In this study, single nucleotide polymorphisms in the RAB5B gene were linked to an increased risk of polycystic ovary syndrome and associated with specific microRNA binding sites.
49 citations
,
January 2006 in “Developmental Dynamics” This research observed that the skeletal abnormalities in Noggin null mice varied based on genetic background, and identified haploinsufficiency leading to joint fusions, similar to human conditions associated with NOGGIN deficiency.
2 citations
,
October 2023 in “Philosophical Transactions of the Royal Society B Biological Sciences” This study identified novel isoforms of the PADI2 and PADI3 proteins, showing that PADI2β inhibits oligodendrocyte differentiation, possibly by opposing the effect of canonical PADI2, while PADI3β modulates the activity of PADI3α, suggesting new regulatory mechanisms of citrullination in tissue development.
45 citations
,
November 2012 This review discusses the association between androgen receptor gene polymorphism and PCOS, reporting mixed findings on whether shorter or longer CAG repeats are linked to the disorder; it provides no new results and calls for further studies.
2 citations
,
March 2024 in “International Journal of experimental research and review” This study found that more than 14% of idiopathic recurrent early pregnancy loss cases were associated with chromosomal heteromorphisms, predominantly 9qh+, suggesting a genetic component in these unexplained cases.
January 2026 in “OSF Preprints (OSF Preprints)” In this study, researchers presented a novel therapeutic approach for androgenetic alopecia combining AR-PROTAC degradation with regenerative strategies and evaluated the potential of GT20029 as a topical treatment, proposing a three-phase protocol and future research hypotheses.
December 2024 in “Animals” In this study, researchers found that RORA directly regulates the expression of the Bnip3 gene, which is crucial for hair follicle stem cell health, using rat HFSCs as a model. They propose that targeting RORA could modulate HFSC status.
January 2025 in “BMC Genomics” In this study, researchers identified thousands of mRNA, lncRNA, circRNA, and miRNA transcripts involved in different hair follicle stages of Rex rabbits and highlighted significant gene expression changes and pathway enrichments, providing insights into the regulatory mechanisms of hair development in these animals.
April 2018 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a novel mechanism by which dsRNA-induced TLR3 activation and retinoic acid pathways contribute to new hair follicle formation after deep wounds in mice and suggested a similar potential in humans.
49 citations
,
January 2010 in “Plant and Cell Physiology” This study found that a phosphorus starvation-insensitive mutant of Arabidopsis thaliana shows altered root growth and auxin responses under low phosphate conditions compared to wild-type plants, suggesting a role for LPR1 in regulating these traits.
23 citations
,
December 2017 in “Scientific Reports” This study found that the ARL15 gene affects adipocyte differentiation and adiponectin secretion, and suggests that ARL15 haploinsufficiency may predispose individuals to lipodystrophy.
9 citations
,
September 2015 in “Reproductive Biomedicine Online” This study suggests that longer GGN repeat polymorphisms in the androgen receptor gene are associated with polycystic ovary syndrome in women.
7 citations
,
May 2019 in “European Journal of Human Genetics” This study describes three new cases of MCOPS6 with BMP4 variants, noting expanded phenotypic variability but no clinically apparent microphthalmia in these individuals, which is commonly reported in the disorder.
November 2025 in “Zenodo (CERN European Organization for Nuclear Research)” This review outlines the evolution of drug repurposing from accidental discoveries to a systematic approach enhanced by genomics and data analytics, emphasizing its accelerated relevance during the COVID-19 pandemic and exploring its global and Indian milestones, computational strategies, and future regulatory perspectives.
2 citations
,
June 2023 in “Journal of cell science” In this study, researchers found that specific mutations in iRhom2 in mice lead to skin and hair abnormalities which depend on the presence of the protein ADAM17, suggesting a complex role for iRhom2 in tissue development and potential implications for treating tylosis with oesophageal cancer.
47 citations
,
June 2019 in “Nature Communications” This study found that self-noncoding dsRNA activates TLR3 to stimulate intrinsic retinoic acid synthesis, promoting new hair follicle formation in wounded mice and showing similar gene expression changes in humans treated with rejuvenation lasers.
January 2010 in “Yearbook of Endocrinology” Two new compounds can block androgen receptor activity in different ways and may lead to new treatments for androgen-related diseases.
2 citations
,
February 2004 in “Biopolymers” This study found that 4-(4-Phenoxybenzoyl)benzoic acid derivatives may act as antioxidants by scavenging certain reactive oxygen species but exhibit prooxidant behavior under specific conditions.
47 citations
,
January 2019 in “Nature communications” This study found that polyamines enhance genome integrity by facilitating homologous recombination-mediated DNA repair, suggesting a novel role for polyamines beyond promoting cell growth and proliferation.
1 citations
,
June 2011 in “Journal of Genetics” Some human genetic markers work for genetic studies in pig-tailed and stump-tailed macaques, which can help in their conservation.
4 citations
,
July 2012 in “Linguistic Annotation Workshop” This study found that greater root surface area due to root hairs contributed to better growth and zinc uptake of wild-type barley compared to its root-hairless mutant in zinc-deficient soil.
27 citations
,
June 2015 in “Journal of Investigative Dermatology” This study found that mutations in the TRPV3 gene can cause a broader range of symptoms in Olmsted syndrome than previously recognized, including severe palmoplantar keratoderma without other classic features.
This review discusses drug repositioning for cardiometabolic disorders and reports no new clinical findings; the authors emphasize its potential benefits, such as known safety profiles and reduced development costs compared to new drug development.
9 citations
,
May 2014 in “BMC medical genetics” In this case report, the authors suggest that a novel enhancer element's translocation near the TRPS1 gene may contribute to the TRPS phenotype, expanding understanding of the syndrome's genetic basis.
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.
This study used whole-genome resequencing to analyze genetic diversity and selection in 17 rabbit breeds, identifying genes linked to traits like coat color and body size, which could inform breeding and conservation efforts.
6 citations
,
September 2024 in “Frontiers in Physiology” This study found that overexpression of R-spondin 3 in a mice model impaired hair morphogenesis and regeneration by reducing hair matrix progenitor cell proliferation, thus disrupting the Wnt pathway's regulation of stem cells.
4 citations
,
April 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study presents an improved reference genome for the African spiny mouse, which may aid in understanding its tissue regeneration at the molecular level.
September 2023 in “Frontiers in Medicine” This study observed that in the bald scalps of male patients with androgenetic alopecia, there was a significant downregulation of the PPAR signaling pathway, suggesting reduced adipogenesis potentially influencing hair cycling processes.