41 citations
,
July 2018 in “Frontiers in Neurology” This study suggests that myotonic dystrophies may qualify as segmental progeroid disorders due to molecular and clinical similarities with typical progeroid syndromes.
January 2018 in “Stem cell biology and regenerative medicine” This review discusses the interplay between signaling/transcription factor-mediated and epigenetic mechanisms in skin development and regeneration, highlighting the need for further exploration of epigenome reorganization in these processes.
2 citations
,
June 2013 in “Journal of Clinical Pathology” This article reviews the role of LMNA gene mutations, particularly in Hutchinson–Gilford progeria syndrome, but does not report new experimental findings.
8 citations
,
July 2004 in “Journal of morphology” This study explored the structure and keratin composition of marsupial hairs, finding similarities in keratin localization to hairs in placental mammals, and highlighting potential roles of trichohyalin and transglutaminase during hair development and shedding.
2 citations
,
May 2017 in “International journal of pharmacy and pharmaceutical sciences/International Journal of Pharmacy and Pharmaceutical Sciences” This review discusses genetic mutations associated with Hutchinson-Gilford progeria syndrome and reports no clinical results; the authors emphasize the importance of cardiovascular monitoring in management.
1 citations
,
January 1989 in “The Nishinihon Journal of Dermatology” In this study, minoxidil did not demonstrate any anti-aging effects on postconfluent hair follicle cells, as no difference was observed in cell proliferation or differentiation compared to controls.
January 2018 in “Stem cell biology and regenerative medicine” This review discusses how the nuclear lamina integrates biochemical and mechanical signals to influence gene expression and skin homeostasis, but reports no new clinical results.
24 citations
,
February 2015 in “Experimental Cell Research” This study found that overexpression of the transcription factor NFIC may enhance the proliferation and differentiation of stem cells from the apical papilla, suggesting its potential role in dentin/root regeneration.
3 citations
,
September 2005 in “Experimental dermatology” This review discusses the formation and structure of the cornified cell envelope in the epidermis, highlighting biochemical pathways and genetic factors, but presents no new experimental results.
7 citations
,
July 2008 in “Experimental Dermatology” This study identified molecular elements controlling the expression and stabilization of THH protein in hair follicle cells, revealing key mechanisms that support hair shaft development in mice.
25 citations
,
October 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” This study characterized the mouse profilaggrin gene, finding it structurally identical to its human counterpart, and noted differences in protein-coding regions that could impact epidermal differentiation.
115 citations
,
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.
24 citations
,
January 1989 in “Archives of biochemistry and biophysics” This study found that androgen binding in male rat livers involves specific androgen receptors, which decrease with castration and are inducible in female livers with testosterone.
60 citations
,
July 2011 in “Stem Cells and Development” This review discusses recent findings on hair follicle morphogenesis and regeneration, focusing on molecular signals and stem cells, and suggests that understanding these processes may aid in developing new strategies for wound healing.
39 citations
,
January 2016 in “PubMed” This review discusses the role of epidermal differentiation complex genes and epigenetic mechanisms in skin development and certain diseases, emphasizing their potential for improving drug development and delivery systems but provides no new experimental results.
48 citations
,
April 2008 in “Human Molecular Genetics” This study found that although progerin expression in mouse skin causes significant nuclear shape changes in keratinocytes, it does not result in alopecia or common skin abnormalities seen in human Hutchinson–Gilford progeria syndrome.
32 citations
,
July 2017 in “Oncotarget” This study found that intermittent treatment with FTI lonafarnib and sulforaphane may be a promising therapeutic approach for children with Hutchinson-Gilford progeria syndrome, as it improved the cellular phenotype.
This study found that lysine carboxymethyl cysteinate helps protect the epidermis from UVB-induced damage by activating autophagy and restoring cornification processes in a skin model.
51 citations
,
October 2019 in “Cells” This study reported that inhibiting the JAK-STAT pathway with baricitinib restored cellular homeostasis, delayed senescence, and reduced proinflammatory markers in Hutchinson-Gilford progeria syndrome cell models.
21 citations
,
March 2018 in “American Journal Of Pathology” In this study, it was observed that NIPAL4 mutations linked to autosomal recessive congenital ichthyosis lead to abnormal skin barrier function due to cytotoxic effects disrupting lipid structure and organization, which topical treatments only partially ameliorated.
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.
98 citations
,
December 2015 in “The Journal of Cell Biology” In this study, researchers found that the absence of type I or type II keratins in mice leads to severe skin barrier defects, highlighting keratins' crucial role in epidermal structure and function.
77 citations
,
April 2005 in “Journal of Investigative Dermatology” Repetin is a protein involved in skin and hair development, binding calcium and compensating for other proteins when needed.
17 citations
,
November 2000 in “Journal of Investigative Dermatology” ZPK helps skin cells mature and may affect skin health.
130 citations
,
April 2001 in “Journal of Investigative Dermatology” This study reports the first keratin gene mutation affecting the tail domain, leading to a unique cytoskeletal abnormality and severe epidermal hyperkeratosis, highlighting the tail domain's critical role in keratin organization.
December 2025 in “Animals” In this study on fine-wool sheep, researchers found that overexpressing the TGFBR1 gene decreased proliferation of dermal papilla cells by influencing multiple signaling pathways, suggesting TGFBR1 as a negative regulator in hair follicle development.
5 citations
,
December 2018 in “Frontiers in Endocrinology” This study found that nuclear androgen receptor expression was enhanced by dihydrotestosterone in rat gubernacular mesenchyme, but this did not affect muscle morphology or matrix composition during fetal development.
This study suggests that disruptions in the Ran system related to nuclear transport may be a key factor in the development of cellular issues in Hutchinson Gilford Progeria Syndrome.
64 citations
,
November 2012 in “EMBO reports” This review discusses the role of lamins in development, tissue maintenance, and stress response, and does not report new experimental findings.
2 citations
,
November 2019 in “Cancer reports” This study concluded that the Wnt signaling pathway does not significantly influence human keratoacanthoma development, but the overexpression of Sox9 suggests alternate signaling involvement.