This study identified the TALE homeodomain transcription factor Meis2 as a crucial regulator for the maturation and end-organ innervation of certain mechanoreceptors in mice, with its absence leading to altered sensory neuron structure and impaired touch sensitivity.
This study found that the NuMA protein's microtubule-binding domain is essential for proper spindle orientation and differentiation in keratinocytes, affecting skin and hair development in mice.
101 citations
,
October 2007 in “Journal of Biological Chemistry” This study indicates that reduced activity of the matriptase-prostasin proteolytic cascade is likely the cause of human autosomal recessive ichthyosis with hypotrichosis, as demonstrated using a novel mouse model.
211 citations
,
April 2018 in “Cold Spring Harbor Perspectives in Biology” Keratins are crucial for cell structure, growth, and disease risk.
24 citations
,
February 2002 in “The journal of investigative dermatology/Journal of investigative dermatology” In this study, researchers identified two new keratin-associated proteins, hKAP1.6 and hKAP1.7, in human hair follicles, contributing to understanding hair fiber differentiation.
58 citations
,
July 2005 in “Molecular and Cellular Biology” This study showed that a 2-kilobase upstream region of the mouse keratin 17 gene enables targeted GFP expression in major epithelial appendages of transgenic mice, indicating sonic hedgehog's involvement in its regulation.
27 citations
,
May 2011 in “Journal of Investigative Dermatology” TCHHL1 is a protein important for hair growth, found in hair follicles.
1 citations
,
January 2022 in “Annals of Dermatology” In this case report, researchers identified a novel homozygous missense mutation in the MBTPS2 gene associated with the mild form of IFAP syndrome in a 7-year-old boy.
103 citations
,
February 1972 in “Proceedings of the National Academy of Sciences” This study found that a unique transglutaminase in guinea pig hair-follicles, distinct from liver transglutaminase, likely plays a role in forming protein cross-links via ε(γ-glutamyl)lysine bonds.
16 citations
,
January 2017 in “Physical chemistry chemical physics/PCCP. Physical chemistry chemical physics” This study presents computational modeling and experimental analysis of the HGT protein KAP8.1, identifying key structural features that may influence hair's response to environmental conditions.
6 citations
,
April 2021 in “NAR Genomics and Bioinformatics” This study found extensive co-evolution of polyglutamine repeat lengths in neural protein clusters, highlighting their potential role in neurocognitive variation and neuropsychiatric disease development.
November 2022 in “Journal of Investigative Dermatology” This study reported that an HS-associated NCSTN mutation in iPSC-derived skin organoids led to altered hair follicle stem cell differentiation and increased expression of proteins linked to HS inflammation.
1 citations
,
January 2001 in “PubMed” This study proposes that the terminal tuft structure in sensory nerve endings, involving Schwann cell processes and axon fingers, potentially plays a role in mechano-electric transduction in rats.
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.
305 citations
,
March 2008 in “AJP Endocrinology and Metabolism” This article reviews the regulation and roles of spermidine/spermine-N(1)-acetyltransferase (SSAT) in polyamine metabolism and its potential as a target in cancer and other diseases, without reporting new experimental results.
27 citations
,
July 1993 in “The journal of investigative dermatology/Journal of investigative dermatology”
1 citations
,
May 2023 in “Frontiers in endocrinology” The researchers reported that the novel MBTPS2 variant p.Glu172Asp found in a male proband is likely pathogenic, consistent with osteogenesis imperfecta symptoms and molecular signatures, including disrupted fatty acid metabolism and collagen production.
6 citations
,
September 2023 in “Experimental physiology” In this study, researchers identified the PLD-mGluR protein in primary mechanosensory terminals as the homomeric GluK2 kainate receptor, functioning purely metabotropically, which is suggested to be common to various sensory endings.
80 citations
,
June 2002 in “Molecular Biology of the Cell” This study found that type II keratins in proliferating epithelial tissues are phosphorylated at a conserved motif during mitosis and stress, impacting keratin solubilization and reorganization.
December 2023 in “American journal of medical genetics. Part A” In this study, researchers identified compound heterozygous variants in the MBTPS1 gene associated with ectodermal dysplasia features in a 14-year-old female, broadening the known disorder spectrum linked to these genetic mutations.
77 citations
,
February 2017 in “Stem Cell Reports” This study found that activation of Wnt/β-catenin signaling in mouse testes promotes spermatogonial differentiation and reduces the stem cell pool, with SHISA6 inhibiting this process and maintaining stem cell characteristics.
56 citations
,
October 2007 in “Journal of Biological Chemistry” This study concluded that dilated cardiomyopathy in Ctsl-deficient mice is mainly due to the lack of cathepsin L in cardiomyocytes, with additional heart stress from the fur defect.
13 citations
,
July 2017 in “Biopolymers” This study presents recombinant human hair keratins K31 and K81, observing novel nanostructures from their self-assembly and emphasizing disulfide crosslinking's role in this process.
50 citations
,
September 2023 in “Biomarker Research” This review focuses on S100A6, a Ca²⁺-binding protein, detailing its role in cell functions, the regulation of its expression, and its potential as a biomarker and therapeutic target in various diseases.
In this study, researchers explored ubiquitination patterns in healthy human skin and CYLD cutaneous syndrome tumors, identifying extensive ubiquitin sites and differential protein ubiquitination linked to tumor pathology, highlighting the role of ubiquitination in tissue architecture and disease mechanisms.
19 citations
,
November 2016 in “Developmental Biology” 43 citations
,
July 1994 in “Journal of Cell Science” This study found that the extraction-resistant structures in hair, feathers, and hagfish teeth are due to ε-(γ-glutamyl)lysine cross-linked proteins, emphasizing their role in maintaining the integrity of these materials.
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.
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.
61 citations
,
February 1982 in “Cell and Tissue Research”