3 citations
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November 2024 in “Electrochimica Acta” A new, quick method accurately detects minoxidil in drugs and cosmetics.
January 2025 in “Iraqi Journal of Science” This study found that variations in the genes PDCD4, miR-21, and miR-449b may significantly influence breast cancer progression, with higher PDCD4 serum levels linked to increased breastfeeding.
1 citations
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January 2020 in “bioRxiv (Cold Spring Harbor Laboratory)” This study suggests that Dicer, but not Tarbp2, plays a crucial role in regulating the growth phase of hair follicles in bulge stem cells during post-natal development in mice.
8 citations
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September 2017 in “Scientific Reports” This study found that the mitotic arrest deficient protein MAD2B negatively affects TCF4-induced growth and proliferation of dermal papilla cells, which are vital for hair follicle development.
2 citations
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August 2004 This study found that early diagnosis using gas chromatography/mass spectrometry and appropriate long-term treatment are crucial for improving outcomes in patients with methylmalonic acidemia.
18 citations
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July 2016 in “Genetica” This study found that in Liaoning cashmere goats, the BMP4 gene shows increased transcription from the anagen stage to telogen, and higher gene methylation correlates with reduced expression in skin tissue.
1 citations
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June 2022 in “Chinese medical journal/Chinese Medical Journal” This study identified two novel mutations in the CDH3 gene causing HJMD in a Chinese patient, expanding the genetic and phenotypic understanding of the disorder.
February 2026 in “International Journal of Molecular Sciences” In this study, the researchers found that cholinergic signaling via M4 muscarinic receptors influences hair growth, with enhanced elongation observed upon activation with bethanechol, highlighting its potential role in hair biology using mouse models.
2 citations
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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.
6 citations
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February 2025 in “Scientific Reports” This study found that MEGA PROTAC improved the prediction of ternary structures with higher maximum DockQ scores compared to the BOTCP method in 16 out of 22 test cases.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
December 2025 in “Cell Communication and Signaling” This study discovered that minoxidil affects hematopoiesis by downregulating wnt4, leading to suppression of hematopoietic stem and progenitor cells and alleviating MDS-like symptoms in zebrafish and mice, with hematologic safety achieved at optimized doses.
7 citations
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March 2022 in “Molecules” This study found that 5-bromo-3,4-dihydroxybenzaldehyde (BDB) promoted hair growth in rat vibrissa follicles by activating Wnt/β-catenin and autophagy pathways and inhibiting the TGF-β pathway in dermal papilla cells.
5 citations
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October 2021 in “American Journal of Medical Genetics Part A” This case report identifies a novel maternally inherited MBTPS2 variant associated with an expanded phenotypic spectrum of BRESHECK syndrome, including cytopenias, bone marrow fibrosis, and chronic diarrhea.
79 citations
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January 2002 in “Nucleic Acids Research” This study found that BMP-2 activates Dlx3 gene transcription in murine keratinocytes by binding with Smad1/Smad4, suggesting a mechanism for BMP signaling's role in skin and hair follicle regulation.
November 2023 in “bioRxiv (Cold Spring Harbor Laboratory)” This study used a novel fluorescent tagging method in mice to observe collagen IV dynamics during hair follicle development, revealing that alterations in basement membrane turnover can influence epithelial progenitor cell behavior and organ morphology by affecting cell proliferation and movement.
August 2026 in “International Journal of Developmental Neuroscience” In this report, researchers describe a 13-month-old with neurodevelopmental disorder NEDESBA, confirming a TRAPPC4 gene mutation as the cause after excluding biotinidase deficiency, highlighting the importance of molecular testing for accurate diagnosis in overlapping metabolic and genetic conditions.
19 citations
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February 2001 in “Journal of paediatrics and child health” This report documents a 14-year-old Chinese boy with mitochondrial encephalopathy, lactic acidosis, stroke-like episodes, and a de novo A3243G mitochondrial DNA mutation, highlighting the condition's multisystem involvement without ragged red fibers in muscle biopsy.
4 citations
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November 2024 in “Journal of Advanced Research” In this study, the researchers reported that NMMHC IIA dissociates from PAR1 and activates the CREB3/ARF4 pathway, worsening thrombin-induced blood-brain barrier damage, suggesting it as a potential therapeutic target for blood-brain barrier-related diseases.
7 citations
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January 2018 in “Neurodegenerative Diseases” This study identified a new clinical variant of adult adrenomyeloneuropathy characterized by hypoplasia and agenesis of the corpus callosum, associated with a novel ABCD1 gene mutation.
39 citations
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October 2012 in “Familial cancer” This review covers the molecular basis of Birt–Hogg–Dubé syndrome and its implications for potential therapeutic targets, but it does not report new experimental results.
1 citations
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July 2007 in “Journal of Investigative Dermatology” The mutation causes hairless mice due to mislocalized and dysfunctional HR protein.
April 2019 in “Journal of Investigative Dermatology” This study identifies a mechanism where dsRNA activates TLR3 to induce RA production, promoting hair follicle regeneration in mice and suggesting a potential role in human tissue regeneration.
2 citations
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January 2024 in “Revista Paulista de Pediatria” In this case report, researchers described a 6-year-old girl with severe mandibuloacral dysplasia type A, noting unique physical deformities and a rare homozygous LMNA gene mutation not commonly associated with the condition.
February 2026 in “Toxicology Letters” This study used an in silico/in vitro approach to identify potential inhibitors of the enzyme SRD5A2, finding that the androgen receptor modulator MK-0773 is a moderate inhibitor, although it does not act as a covalent inhibitor like finasteride.
23 citations
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July 2016 in “JAMA Ophthalmology” This study observed that CDH3-related congenital hypotrichosis with juvenile macular dystrophy presents with childhood-onset progressive chorioretinal atrophy and universally thin and sparse scalp hair.
28 citations
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July 2008 in “Developmental Biology” This study found that the loss of Smad4 in keratinocytes reduces Dsg4 expression via disrupted BMP signaling, contributing to hair follicle degeneration and alopecia.
221 citations
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July 2012 in “Proceedings of the National Academy of Sciences of the United States of America” This study found that the circadian clock in mouse skin regulates cell proliferation and affects sensitivity to UVB-induced DNA damage, with potential implications for understanding human skin cancer risk.
December 2022 in “Biochemical and Biophysical Research Communications” This study found that HtrA2 inactivation in mnd2 mice is associated with delayed hair cycle phases and growth retardation of adipocytes, suggesting HtrA2's role in regulating adipogenesis-related hair growth.
August 2023 in “Dermatology reports” This case study of a 2-month-old boy with maple syrup urine disease highlights the dangers of restricting branched-chain amino acid intake, as it led to acrodermatitis dysmetabolica-like skin eruptions and hair loss, later resolved with careful dietary adjustments and monitoring.