October 2023 in “Psychiatry research. Case reports” In this study, researchers observed that twins with a novel de novo nonsense variant in HRAS exhibited distinctive features, including neuropsychiatric symptoms, potentially indicating a wider clinical spectrum for conditions known as RASopathies.
39 citations
,
December 2012 in “The American Journal of Human Genetics” This study identified mutations in the SNRPE gene that may disrupt hair growth, linking a spliceosome component to hereditary hair loss disorders.
5 citations
,
May 2024 in “BMC Genomics” This study analyzed the transcriptome of the Tianzhu white yak, identifying differential transcripts that shed light on the molecular mechanisms influencing hair length growth variation in this species.
89 citations
,
October 2003 in “Biology of the Cell” This study found that labeled galectin-1 binds to specific nuclear sites in human bone marrow stromal cells and keratinocytes, suggesting a role in nuclear function, although only in a small fraction of cells.
200 citations
,
March 2023 in “Nature Reviews Molecular Cell Biology” This review discusses the role and regulation of quiescent adult stem cells in tissue maintenance and repair, focusing on molecular mechanisms and their implications for regenerative medicine, but reports no new clinical results.
25 citations
,
November 2018 in “Cell reports” This study found that the ablation of Esrp1 and Esrp2 disrupts epithelial tight junctions by affecting Arhgef11 isoform expressions, highlighting a potential mechanistic link between splicing alterations and epithelial barrier defects.
1 citations
,
August 2014 in “Asian-Australasian Journal of Animal Sciences” In this study, recombinant goat VEGF164 increased hair growth when applied to the skin of shaved mice.
27 citations
,
February 2017 in “Clinical, Cosmetic and Investigational Dermatology” In this study, a topical formulation with compounds from the monoterpenoid family significantly improved hair growth indicators like anagen:telogen ratio, hair fall, and visual hair density in men and women with pattern hair loss.
3 citations
,
July 2025 in “International Journal of Biological Sciences” This review highlights that the RNA modification N6-methyladenosine (m6A) plays a crucial role in regulating wound healing and tissue remodeling, with dysregulation contributing to complications in chronic wounds, such as diabetic ulcers and burn injuries, through mechanisms like impaired angiogenesis and increased oxidative stress.
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.
39 citations
,
January 2019 in “Cells” This review discusses the molecular mechanisms of Hutchinson-Gilford progeria syndrome and evaluates current research trends, available mouse models, and prospects for developing therapies, but reports no new clinical findings.
13 citations
,
January 2020 in “Scientific Reports” This study found distinct differences in protein expression and wound healing pathways between Acomys cahirinus and Mus musculus, highlighting potential targets for reducing fibrotic response in mammals.
4 citations
,
December 2021 in “Journal of clinical laboratory analysis” This study identified a splicing-site deletion in the DCAF17 gene associated with Woodhouse-Sakati syndrome in a large consanguineous pedigree, leading to typical phenotypic features.
December 2024 in “Frontiers in Veterinary Science” This study on Dorper sheep identified important genetic factors influencing hair follicle development, finding that expression patterns and genes like DBI, FZD3, and ZDHHC21 play a crucial role in wool shedding, which could help improve understanding of mammalian skin-related traits and human hair advancement.
July 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” This study identified a new FAK isoform, FAKΔe4, which is regulated by ECM stiffness and affects cell migration, invasion, and mechanosensing in human-derived data and engineered models.
December 2023 in “Frontiers in endocrinology” This review explores the role of hyperandrogenism, including adrenal-derived 11-oxygenated androgen, in the development of polycystic ovarian syndrome and discusses potential therapeutic strategies targeting androgen excess, without reporting new clinical results.
23 citations
,
January 1996 in “Software Engineering and Knowledge Engineering” This study hypothesizes a possible association between certain endocrine abnormalities and 11q-syndrome, emphasizing the importance of early diagnosis and management to improve patient quality of life.
74 citations
,
October 1998 in “Journal of biological chemistry/The Journal of biological chemistry” This study discovered nine human type I hair keratin genes, including a transcribed pseudogene, in a 190 kbp genomic region, revealing three gene subclusters based on sequence homologies.
6 citations
,
June 2012 in “PloS one” This study identified a novel SCF mRNA splice variant in white merino sheep skin, which may play a role in hair follicle melanogenesis.
29 citations
,
May 2025 in “Polymers” This study systematically examines how smart biomaterials used with DLP technology can enhance bioprinting in tissue engineering and regenerative medicine, while also identifying current challenges and future research needs.
4 citations
,
July 2022 in “The Journal of Clinical Endocrinology & Metabolism” This study identified a novel homozygous mutation in the 5'-UTR of the POMC gene, suggesting a new molecular mechanism for the syndrome of adrenal insufficiency, obesity, and red hair.
99 citations
,
October 2008 in “Journal of Investigative Dermatology” This study identified genetic mutations linked to congenital ichthyosis in families from the UAE and Turkey, revealing a connection between keratinization disorders and impaired filaggrin processing.
In this study, researchers used transcriptome sequencing to identify 1543 differentially expressed genes between cashmere and normal goats, implicating several signaling pathways and key regulators in the distinct gene expression profiles linked to cashmere fiber production, which advances understanding of cashmere goat genetics.
7 citations
,
January 2019 in “Journal of clinical medicine research” This study found that menopausal status and hormone therapy significantly affect the histology and gene expression of the introitus, with post-menopausal women showing notable tissue remodeling associated with vaginal atrophy.
4 citations
,
February 2022 in “International Journal of Molecular Sciences” This review discusses the similarities between myotonic dystrophy and aging, highlighting the role of cellular senescence in its pathophysiology, and reports no new clinical findings; the authors note potential anti-aging therapy applications.
3 citations
,
September 2017 in “Archives of dermatological research” Early diagnosis and tailored treatments are crucial for managing ichthyosis syndromes with hair abnormalities.
1 citations
,
April 2023 in “Animals” This study utilized EDAR gene-targeted cashmere goats to identify 732 differentially expressed genes and 140 proteins associated with abnormal hair growth, providing insights into the regulatory mechanisms of cashmere follicle development.
May 2026 in “Science Advances” This research observed that translation initiation shifts from cap-dependent to IRES-mediated pathways varied across tissues and cell types under stress and differentiation conditions in mice, with low IRES/Cap ratios signaling high stemness and potential multipotency, mediated by the RNA processing protein PTBP1.
September 2025 in “Science Advances” This study reports that PADI4, an enzyme involved in posttranslational protein modifications, regulates progenitor cell transitions in hair follicle development by repressing transcription and interacting with translational and ribosomal processes.
June 2023 in “Frontiers in Medicine” This study identified core genes and pathways involved in androgenetic alopecia, finding that genes related to hair follicle development are down-regulated, while those linked to immune responses are up-regulated, highlighting potential therapeutic targets.