318 citations
,
October 1998 in “The Journal of Cell Biology” This study found that ectopic expression of the lymphoid-enhancer factor can induce K17 protein in the skin, suggesting a link between skin development and wound repair processes in mice.
10 citations
,
June 2022 in “Biomedicine & Pharmacotherapy” This review examines the molecular mechanisms by which the proapoptotic protein ARTS inhibits tumorigenesis and discusses prospects for developing drugs that mimic its function, with no new experimental results reported.
July 2025 in “Clinical Case Reports” In this case report, a 17-year-old male with a specific TRPS1 gene mutation presented with sparse, soft hair, short thumbs and toes, misaligned teeth, and distinctive bone abnormalities in the fingers and toes as observed through X-ray analysis.
110 citations
,
April 2009 in “Cell Motility and the Cytoskeleton” This review discusses the intracellular activity of β-thymosins and their role in modulating the actin cytoskeleton, but it reports no new experimental results.
May 2024 in “JCI insight” In this study, researchers discovered a dominant variant in the ADAM17 gene that causes hypotrichosis with woolly hair, where the mutation leads to hair follicle stem cell exhaustion and abnormal hair follicles, resulting in alopecia.
64 citations
,
April 1992 in “Differentiation” This study identified Sciellin, a new protein precursor to the cornified envelope in keratinocytes, with unique solubility properties hinting at its potential role in envelope assembly.
4 citations
,
November 2024 in “Journal of Advanced Research” In this study, the researchers reported that NMMHC IIA dissociates from PAR1 and activates the CREB3/ARF4 pathway, worsening thrombin-induced blood-brain barrier damage, suggesting it as a potential therapeutic target for blood-brain barrier-related diseases.
1 citations
,
April 2018 in “Journal of Investigative Dermatology” The Trichodysplasia spinulosa virus protein can cause abnormal hair growth in mice.
1 citations
,
January 2024 CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
CaBP1 and CaBP2 are necessary for proper hearing and neurotransmission in the ear's inner hair cells.
17 citations
,
December 2002 in “Biochemical and biophysical research communications” This study reports on the biochemical characteristics of S100A3 protein in human hair cuticle, notably finding its N-terminal methionine is acetylated and has a slightly lower isoelectric point compared to the recombinant version.
This study reports that a specific transporter protein in Staphylococcus hominis is responsible for transporting a malodour precursor, thereby playing a key role in human body odor production.
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.
November 2022 in “The journal of investigative dermatology/Journal of investigative dermatology” This study found that STRIP1 and the STRIPAK complex play a key role in regulating F-actin and cell-cell junctions, which are essential for maintaining the epidermal barrier in mouse skin.
April 1996 in “Journal of Dermatological Science”
10 citations
,
March 2015 in “Journal of dermatology” This case report describes a 12-year-old boy with severe skin scaling due to novel compound heterozygous null truncation mutations in the TGM1 gene, resulting in loss of transglutaminase 1 activity.
25 citations
,
December 2018 in “Human Molecular Genetics” This study found that the PSEN1-P242LfsX11 mutation in hidradenitis suppurativa influences cytokine and chemokine expression in macrophages, potentially affecting inflammatory responses.
6 citations
,
January 2020 in “International Journal of Biological Sciences” This study found that lower expression of Septin4 is significantly associated with worse outcomes in colon cancer, and its interaction with BAX in DOX treatment suggests its potential in targeted therapy.
12 citations
,
December 2011 in “Journal of Dermatological Science” This study suggests that the C-terminal of AHF is crucial for its binding to keratin bundles and modulating the keratin meshwork in hair follicles.
This study identified a 14,883 bp genomic deletion affecting the Plcd1 and Vill genes as likely responsible for the abnormal phenotype observed in snthr-1Bao mice.
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.
8 citations
,
January 2013 in “genesis” This study identified a new transcriptional repressor, Zfp157, as a target of Stat6 in the mammary gland, expressing in various tissues during mouse embryogenesis and adulthood.
53 citations
,
March 2006 in “Biopolymers” This study suggests that increased amounts of less stable disulfide conformers in hair shafts may be linked to the brittleness observed in trichothiodystrophy.
32 citations
,
January 2000 in “Human Heredity” This study found that the mutation Glu402Lys in keratin hHb6 may be associated with monilethrix, and homozygous patients in a consanguineous family exhibited more severe symptoms.
This study demonstrates that the trichohyalin gene is located at chromosomal region 1q21, where several other genes related to epidermal differentiation also map.
135 citations
,
October 1997 in “Journal of biological chemistry/The Journal of biological chemistry” This study suggests that trichohyalin is modified by peptidyl-arginine deiminase before being cross-linked by TGase 3, allowing the formation of rigid structures in hair follicle cells.
1 citations
,
July 1997 in “The Lancet” This study suggests that a newly discovered protein, AMY117, found in Alzheimer's disease brain lesions may be crucial in the disease's development and progression.
99 citations
,
May 1998 in “Journal of biological chemistry/The Journal of biological chemistry” This study found that small proline-rich proteins modify the biomechanical properties of cornified cell envelopes in rodent forestomachs, potentially affecting the tissue's ability to withstand mechanical stress.
September 2019 in “The journal of investigative dermatology/Journal of investigative dermatology” This study identified a novel G207E STING mutation causing a distinct phenotype involving alopecia, photosensitivity, and thyroid dysfunction, and suggests that common polymorphisms in TMEM173 and IFIH1 may influence disease presentation.
12 citations
,
January 2013 in “Acta Histochemica” Junctional proteins stabilize the inner root sheath and connect the companion layer in human hair.