August 2016 in “Journal of Investigative Dermatology” This case report identifies a novel LIPH gene mutation linked to autosomal recessive woolly hair/hypotrichosis in a Japanese boy, expanding the spectrum of known mutations associated with this condition.
6 citations
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January 2020 in “International journal of biological sciences” In this study, deletion of ROBO4 in mice ameliorated hair loss caused by elevated PAF levels, suggesting potential interplay with VLDLR-related pathways.
8 citations
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July 2024 in “PLoS ONE” In a comparative genomic study, researchers observed significant genetic differences among the three chemical races of the alga Botryococcus braunii, leading them to propose reclassifying these races as distinct species based on their unique genomic characteristics.
1 citations
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December 2016 in “Revista română de medicină de laborator” This study reported the first case of a NIPAL4 c.527C>A mutation in Romanian patients with autosomal recessive congenital ichthyosis, finding that NIPAL4 mutations are more common than TGM1 mutations in this population.
April 2020 in “The FASEB Journal” This study found that Rap1 deficiency in mice may lead to telomere shortening, DNA damage, and impaired mitochondrial function, contributing to cardiac aging and dysfunction.
March 2026 in “Journal of Enzyme Inhibition and Medicinal Chemistry” This review examines the development and challenges of using PROTACs, a targeted protein degradation strategy, to treat cancer by degrading specific proteins like PARPs and GPX4, highlighting issues such as target diversification and bioavailability.
November 2024 in “Journal of Investigative Dermatology” In this study, researchers investigated changes in ribosomal RNA modifications associated with stress-induced cellular senescence in human skin cells, identifying potential biomarkers and targets for interventions to mitigate skin aging.
1 citations
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April 2021 in “IntechOpen eBooks” This review examines genetic variation in the ovine KRTAP1.1 gene and its potential impact on wool quality, reporting no new findings but suggesting opportunities for developing gene markers for wool and pelt traits.
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.
This study suggests that the ANE syndrome mutation in yeast Nop4, analogous to human RBM28, disrupts protein folding and protein-protein interactions, contributing to ribosomal dysfunction.
1 citations
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October 2025 in “Micromachines” This review highlights the potential of integrating point-of-care testing with allele-specific amplification techniques like AS-PCR, AS-LAMP, and AS-RPA to improve the efficiency, accuracy, and affordability of genotyping single nucleotide polymorphisms associated with human diseases.
April 2022 in “Microbiology and Immunology” This study suggests that a specific short sequence repeat in Malassezia restricta may be linked to increased colonization and the development or exacerbation of androgenetic alopecia.
April 2026 in “Current Opinion in Genetics & Development” This mini-review explores how both endogenous and damage-released RNAs serve as instructional signals that influence cell identity and plasticity during tissue maintenance and repair, highlighting RNA's role as a regulator of cellular flexibility in various regenerative contexts.
130 citations
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January 2000 in “Nature biotechnology”
6 citations
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March 2016 in “PLoS ONE” This study characterized hair from a patient with a ribosomopathy and identified distinct differences, including reduced hair thickness and lipid content, compared to family members.
53 citations
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May 1988 in “Journal of Molecular Evolution” 9 citations
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October 2025 in “MedComm” This review discusses the development and clinical progression of PROTAC technology for targeted protein degradation, highlighting its potential to address previously "undruggable" targets but reports no new clinical results.
August 2023 in “Journal of Dermatological Science” A specific RNA molecule blocks hair growth by affecting a protein related to hair loss conditions.
57 citations
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May 2014 in “Molecular Phylogenetics and Evolution” This study utilized a sequence-structure alignment approach to improve the characterization of Class A Rhodopsin GPCR superfamily, including orphan and unclassified receptors, through evolutionary analysis.
112 citations
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August 2012 in “The American Journal of Human Genetics” In this study, two unique mutations in the RBPJ gene were identified and linked to Adams-Oliver syndrome, confirming impaired DNA binding of mutated RBPJ as a factor in this rare genetic disorder.
20 citations
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January 2002 in “Laboratory Animals” This study identified a compound heterozygous mutation in a hairless rhesus macaque, which was associated with skin abnormalities similar to those in hairless mice and humans with APL.
September 2024 in “Journal of Medicine and Life” In this study, researchers identified a recurrent nonsense mutation, c.409C>T (p.Arg137*), in the COL7A1 gene through whole exome sequencing in a family with autosomal recessive dystrophic epidermolysis bullosa, demonstrating the importance of this method for diagnosing genetically complex conditions.
60 citations
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August 2008 in “Human molecular genetics online/Human molecular genetics” This study suggests that a position effect disrupting TRPS1 expression may be linked to hypertrichosis in both Ambras syndrome in humans and a similar phenotype in Koa mice.
60 citations
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January 2007 in “Human Genetics” In this study, researchers found that while the SNP rs6152 is strongly associated with androgenetic alopecia, the GGN triplet repeat is not, suggesting the causative variant is likely a non-coding one.
January 2017 in “Journal of Chemical Biological and Physical Sciences” This study found that human hair keratin genes contain a few simple sequence repeats, with one repeat in the exon of KRT31 and additional repeats in introns, varying in length compared to their orthologues.
Defective protein folding due to a mutation is key in ANE syndrome.
115 citations
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October 2009 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” In this study, researchers identified novel LMNA mutations in patients with atypical progeroid syndrome, revealing clinical features distinct from other similar disorders, but unrelated to mutant prelamin A accumulation.
53 citations
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May 1996 in “The Journal of Clinical Endocrinology & Metabolism” This study identified multiple mutations in the 5 alpha-reductase-2 gene among male pseudohermaphrodites in the Dominican Republic, suggesting they do not share a common ancestry.
6 citations
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June 2024 in “Scientific Reports” This study introduced RoPod, a customizable tool for low-stress live imaging of Arabidopsis roots, which improves data reproducibility and provides new insights into plant autophagy by revealing detailed, cell type-specific responses to chemical modulators.
5 citations
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December 2023 in “Current Biology” A feedback loop between LRH and RSL4 controls root hair growth in Arabidopsis.