July 2025 in “bioRxiv (Cold Spring Harbor Laboratory)” This study found that using exosomes derived from thrombin-pretreated umbilical cord mesenchymal stem cells significantly accelerated wound healing and improved skin regeneration in a mouse model, highlighting their potential as a cell-free therapy for skin injuries.
January 2025 in “International Journal of Biological Macromolecules” This study found that decorin treatment significantly enhances dermal papilla cell proliferation, promoting hair follicle growth by influencing the SMAD3/TGF-β signaling pathway through exosomal miR-129–2-3p, which may aid in novel strategies for treating hair disorders and enhancing wool production.
June 2023 in “Zenodo (CERN European Organization for Nuclear Research)” This review discusses Hutchinson-Gilford Progeria Syndrome, its symptomatology, and the progress in developing treatment strategies, emphasizing that while a cure remains elusive, advances in understanding the disease's molecular mechanisms show promise for future approaches.
124 citations
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September 1992 in “Endocrinology” This article discusses the structure of the human type II 5 alpha-reductase gene and reports no new experimental results.
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.
66 citations
,
December 1999 in “Journal of Investigative Dermatology” New mutations in the hairless gene may cause hair loss and affect bone development.
31 citations
,
October 2016 in “PLoS ONE” This study suggests that UMPP activation is a key signaling pathway in differentiating primary and secondary hair follicles in cashmere goats.
28 citations
,
October 2004 in “Differentiation” This study identified a large deletion in the desmoglein 4 gene as the genetic basis of the Iffa Credo "hairless" rat's skin phenotype, linking it to lanceolate hair mutations.
18 citations
,
February 2006 in “Genomics” A new genetic mutation in mice causes permanent hair loss and skin wrinkling.
13 citations
,
October 2019 in “Journal of Integrative Agriculture” This study found that certain FZD3 gene variants were significantly associated with wool traits in Chinese Merino sheep, suggesting potential as genetic markers for breeding.
11 citations
,
October 2014 in “Gene” In this study, researchers characterized the FGF5 gene in Chinese Merino sheep, identified a new mRNA splicing variant, FGF5S, and noted its restricted expression in the brain, spleen, and skin.
9 citations
,
January 2014 in “Molecular Genetics and Metabolism Reports” This study discovered that a specific G to C mutation in the ornithine aminotransferase gene is linked to the retarded hair growth phenotype in mice and may serve as a model for human gyrate atrophy.
8 citations
,
December 2017 in “Small Ruminant Research” This study reports that variation in the ovine TCHH gene may influence wool fibre curvature, with specific gene variants affecting the mean fibre curvature in sheep.
6 citations
,
January 2020 in “BMC Medical Genetics” In this study, researchers identified a novel STS gene (c.287G > A; p.W96*) mutation in Pakistani individuals with X-linked ichthyosis, expanding the understanding of its genetic causes and aiding in genetic counseling.
4 citations
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May 2020 in “Cureus” This case report describes an adult male from India with Werner's syndrome due to a novel homozygous mutation in the WRN gene, characterized by several premature aging symptoms.
April 2019 in “Journal of Investigative Dermatology” This study demonstrated that gene-corrected 3D skin constructs from RDEB patient-derived iPSCs, grafted onto immunocompetent mice, showed normal collagen VII expression after two months.
January 2010 in “Chinese Journal of Dermatovenereology of Integrated Traditional and Western Medicine” This study found a novel nonsynonymous genetic variant in the hHb1 gene of a family with monilethrix, which differs from ten previously reported pathogenic mutations.
50 citations
,
February 2007 in “The Journal of Pathology” This study found a rare germline mutation in the Birt–Hogg–Dubé gene in a Japanese patient with renal cell carcinoma, suggesting distinct biological features and challenging current renal tumor classifications.
18 citations
,
January 2018 in “Advances in experimental medicine and biology” This review discusses the evolutionary history of keratins and reports no new results, highlighting key events that contributed to the development of mammalian hair and integument.
11 citations
,
July 2015 in “Gene” This study found that dihydrotestosterone (DHT) suppresses prostaglandin E2 and TGF-β induced IGF-I gene promoter activity in osteoblasts, suggesting complex interactions among bone growth regulators and potential complications from anabolic steroid use.
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.
January 2024 in “International journal of molecular sciences” This study found that higher expression of the Hoxc13 gene in specific areas of hair follicles is associated with longer wool length in Gansu alpine fine-wool sheep.
September 2022 in “IP Indian journal of clinical and experimental dermatology” This case report describes an 8-year-old girl with atrichia congenita characterized by complete hair loss and papular lesions, attributed to an insertion mutation in the hairless gene.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
May 2010 in “Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature” A mutation in the KRT74 gene causes woolly hair by affecting hair texture.
94 citations
,
April 2002 in “The Journal of clinical endocrinology and metabolism/Journal of clinical endocrinology & metabolism” This study describes the first case of female pseudohermaphroditism due to a novel homozygous glucocorticoid receptor gene mutation, indicating possible pre- and postnatal virilization in affected females.
76 citations
,
September 1992 in “Endocrinology” This study details the isolation and characterization of the human type II 5 alpha-reductase gene, which may play a role in male pseudohermaphroditism, prostate cancer, and benign prostatic hyperplasia.
74 citations
,
October 2012 in “The American Journal of Human Genetics” This study found that loss-of-function mutations in the HOXC13 gene cause autosomal-recessive pure hair and nail ectodermal dysplasia, emphasizing its role in hair and nail development.
68 citations
,
November 2012 in “Journal of Investigative Dermatology” This study found that PGD2 inhibits hair follicle regeneration in mice through the Gpr44 receptor, suggesting that blocking PGD2 or Gpr44 may enhance skin regeneration after wounds.
44 citations
,
August 2004 in “Journal of Investigative Dermatology” A gene deletion in DSG4 causes sparse hair in some Pakistani families.