26 citations
,
October 1998 in “Experimental Dermatology” This study describes a co-dominant E410D mutation in keratin hHb6 associated with severe hair loss and extensive papules in homozygous individuals, with variable expression in heterozygous family members.
115 citations
,
March 2019 in “Nature Communications” This study identified significant genetic associations with frontal fibrosing alopecia at four genomic loci, suggesting it is a genetically predisposed immuno-inflammatory disorder influenced by the HLA-B*07: 02 allele.
August 2011 in “BIO-PROTOCOL” This protocol paper details methods for live imaging and analysis of dividing germline stem cells in C. elegans and reports no new research findings.
59 citations
,
May 2017 in “Scientific reports” This study found that ZDHHC13 deficiency in mice is associated with abnormal liver function, lipid metabolism issues, and impaired mitochondrial function, highlighting ZDHHC13's regulatory role in liver metabolism.
May 2026 in “ACS Catalysis” In this study, researchers using QM/MM simulations identified key molecular motions and residue interactions in the enzyme SRD5A2 that significantly influence its catalytic efficiency, demonstrating that specific residues play critical roles in stabilizing transition states and reducing activation barriers.
December 2014 in “Journal of Biomedical Research” In a mouse model of peripheral vascular disease, this study found that recombinant thymosin β4 treatment increased expression levels of certain proteins, promoting angiogenesis.
5 citations
,
February 2016 in “Genetic Testing and Molecular Biomarkers” This study found that the expression levels of nucleolin, nucleophosmin, and UBTF genes were lower in normal sites compared to hair loss sites in males with alopecia.
41 citations
,
January 2001 in “Journal of Investigative Dermatology”
25 citations
,
January 2014 in “Annals of Dermatology” Sfrp2 increases during hair follicle catagen phase and slows keratinocyte growth.
39 citations
,
January 2015 in “Annals of dermatology/Annals of Dermatology” This review discusses three newly identified forms of epidermolysis bullosa related to mutations in DST-e, EXPH5, and ITGA3, offering insights into their genetic and clinical characteristics but reports no new clinical results.
April 2021 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that CTCF is crucial for proper skin and hair follicle development in mice, affecting keratinocyte differentiation and gene expression in keratin loci.
1 citations
,
January 2020 in “Benha Journal of Applied Sciences” This study found that DEFB1 polymorphisms, specifically the rs1800972 CG and GG genotypes, may predict susceptibility to and severity of alopecia areata.
29 citations
,
September 2018 in “Journal of the American Heart Association” This study found that EP 2 signaling is crucial for macrophage recruitment and inflammatory regulation in the injured heart, impacting cardiac repair processes.
5 citations
,
August 2019 in “iScience” In this study, Trf1 genetic deletion in mice, including those with cancer-prone mutations, was shown to not affect overall viability and cause only mild effects, while being necessary for tumor formation, suggesting a potential therapeutic window for Trf1 as an anti-cancer target.
10 citations
,
April 2020 in “PloS one” This study found that mitochondrial dysfunction due to Crif1 deficiency in hair follicle stem cells significantly slows the hair growth cycle in adult mice but does not impact the maintenance of HFSC populations.
January 1999 in “American Journal of Medical Genetics Part A” This case report describes a rare occurrence of ectodermal dysplasia features in a 14-year-old with MBTPS1 gene variants, expanding the known spectrum of related disorders.
65 citations
,
September 2014 in “Orphanet Journal of Rare Diseases” This study identified mutations in the STUB1 gene linked to hereditary cerebellar ataxia with cognitive impairment, revealing potential effects on protein function and patient symptoms, including accelerated aging.
5 citations
,
June 2023 in “BMC genomics” This study found that a specific genetic mutation in the Fgf5 gene may contribute to the long-hair trait in Angora rabbits by reducing the binding capacity of the FGF5 protein.
January 2013 in “Scholarworks (University of Massachusetts Amherst)” This dissertation reveals that FERONIA, a cell wall-binding receptor kinase, plays a crucial role in regulating plant functions such as sugar signaling, pollen tube reception, and RAC/ROP-mediated auxin signaling.
April 2018 in “Journal of Investigative Dermatology” This study found that the RNA helicase DDX6 is essential for maintaining self-renewal in epidermal progenitor cells by promoting the translation of proliferation regulators and degrading differentiation-inducing mRNAs.
75 citations
,
March 2007 in “Journal of Biological Chemistry” This review discusses the complexities and uncertainties in the pathways and mechanisms for disulfide bond formation in multicellular organisms and reports no new experimental findings.
53 citations
,
September 2004 in “American journal of medical genetics. Part C, Seminars in medical genetics” This review discusses the range of diseases caused by mutations in keratin intermediate filament genes and presents no new clinical findings; the authors note the diverse phenotypes within this molecular category.
1 citations
,
October 2010 in “2010 3rd International Conference on Biomedical Engineering and Informatics” This study successfully cloned and characterized the LEF-1 gene from Inner Mongolia Cashmere Goats, potentially aiding efforts to enhance cashmere production through genetic modification.
February 2024 in “Frontiers in Cell and Developmental Biology” This study found that eribulin-based chemotherapy resulted in longer median progression-free and overall survival, with fewer side effects, for advanced triple-negative breast cancer patients compared to other chemotherapy options.
3 citations
,
January 2017 in “Acta Dermato Venereologica” This study found that a specific T-cell receptor motif associated with lipid-antigen stimulation may play a role in the pathogenesis of folliculotropic mycosis fungoides.
6 citations
,
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.
July 2025 in “Journal of Investigative Dermatology”
July 2026 in “bioRxiv (Cold Spring Harbor Laboratory)” In this study, researchers found that the efflux of calcium in root hairs of Arabidopsis thaliana, particularly through the ER-localized ACA2 and ACA7, is crucial for modulating cytoplasmic calcium signals and enabling proper root hair growth, with disruptions leading to impaired elongation.
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.
24 citations
,
June 2003 in “Journal of Structural Biology” This study suggests that varying intersheet interactions may explain the differences between the two polymorphic forms of macrofibril assembly in Merino wool and hair.