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research Sequence and structure based assessment of non-synonymous SNPs in hypertrichosis universalis
Two specific SNPs in the TRPS1 gene cause excessive hair growth by altering the protein's structure.
research A position effect on TRPS1 is associated with Ambras syndrome in humans and the Koala phenotype in mice
A position effect on the TRPS1 gene causes excessive hair growth in humans and mice.
research Trichothiodystrophy: Review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias
research Expression of Hypothalamic–Pituitary–Thyroid Axis RelatedGenes in the Human Skin
Thyroid-related genes are active in skin cells and may affect autoimmune conditions.
research Delayed hair cycle in mnd2 mutant mice lacking HtrA2 serine protease activity
HtrA2 activity is crucial for normal hair growth by regulating fat cell development.
research Multiplex matrix network analysis of protein complexes in the human TCR signalosome
Alopecia areata patients show unique protein activity patterns, suggesting imbalanced signaling pathways.
research Folliculin, the Product of the Birt-Hogg-Dube Tumor Suppressor Gene, Interacts with the Adherens Junction Protein p0071 to Regulate Cell-Cell Adhesion
The protein folliculin, involved in a rare disease, works with another protein to control how cells stick together and their organization, and changes in this interaction can lead to disease symptoms.
research New case of trichorinophalangeal syndrome-like phenotype with a de novo t(2;8)(p16.1;q23.3) translocation which does not disrupt the TRPS1 gene
A woman with a unique syndrome similar to TRPS has a genetic change near the TRPS1 gene, affecting its regulation.
research The interaction of hydrocortisone and thyroxine during fetal adipose tissue differentiation: CCAAT enhancing binding protein expression and capillary cytodifferentiation.
Glucocorticoids and thyroid hormones together are essential for fetal fat development.
research Transcriptome analyses of reprogrammed feather / scale chimeric explants revealed co-expressed epithelial gene networks during organ specification
Key genes can rewire networks, changing skin appendage types.
research Diversity of Trichocyte Keratins and Keratin Associated Proteins
Hair and wool have diverse keratins and keratin-associated proteins.
research Diagnosis of Trichothiodystrophy in 2 Siblings
Two siblings were diagnosed with Trichothiodystrophy, identified by brittle hair and low sulfur content.
research Patterns of expression of trichocytic and epithelial cytokeratins in mammalian tissues II. Concomitant and mutually exclusive synthesis of trichocytic and epithelial cytokeratins in diverse human and bovine tissues (hair follicle, nail bed and matrix, lingual papilla, thymic reticulum)
Trichocytic cytokeratins are found in hair, nails, tongue, and thymus cells, showing complex regulation in tissue development.
research Latent transforming growth factor beta-binding protein 1 (LTBP1): roles as a multifunctional extracellular matrix regulator in human disease. From molecular mechanisms to clinical translation prospects
LTBP1 is a key regulator in diseases and a potential target for new treatments.
research Direct evidence supporting the existence of a helical dislocation in protofilament packing in the intermediate filaments of oxidized trichocyte keratin
Oxidized trichocyte keratin has a helical dislocation in its structure.
research 267 Deep phenotyping of patients with xeroderma pigmentosum and trichothiodystrophy
Deep phenotyping helps distinguish between xeroderma pigmentosum and trichothiodystrophy, aiding in diagnosis and treatment.
research Hairless: A nuclear receptor corepressor essential for skin function
The Hairless gene is crucial for healthy skin and hair growth.
research Expression and tissue distribution analysis of vimentin and transthyretin proteins associated with coat colors in sheep (Ovis aries)
Vimentin and transthyretin proteins are linked to black coat color in sheep.
research Roles for Msx and Dlx homeoproteins in vertebrate development
Msx and Dlx genes are crucial for development, controlling cell behaviors like growth and differentiation through their roles as gene regulators.
research A missense mutation in the type II hair keratin hHb3 is associated with monilethrix
A mutation in the hHb3 gene is linked to the hair disorder monilethrix.
research 516 Dynein is involved in the movement, distribution, acidity, and transfer of melanosomes
Dynlt3 is important for melanosome transport and skin coloration.
research Grp1-associated scaffold protein regulates skin homeostasis after ultraviolet irradiation
Grasp protein helps maintain skin health after UVB exposure.
research A New Case of Isolated Trichothiodystrophy
A rare case of isolated trichothiodystrophy was identified, marked by brittle hair with low sulfur content.
research Structure and Mechanical Properties of Human Trichocyte Keratin Intermediate Filament Protein
Disulfide bonds make keratin in hair stronger and tougher.
research Ancient lineages of the keratin-associated protein (KRTAP) genes and their co-option in the evolution of the hair follicle
Some hair protein genes evolved early and were adapted for use in hair follicles.
research The Proximal Promoter of the Human Transglutaminase 3 Gene
The TGM3 gene's promoter region is key for skin and hair cell function and may aid gene therapy.
research Folliculin interacts with p0071 (plakophilin-4) and deficiency is associated with disordered RhoA signalling, epithelial polarization and cytokinesis
Folliculin deficiency causes problems with cell division and positioning due to disrupted RhoA signaling and interaction with p0071.
research Expression of truncated latent TGF-β-binding protein modulates TGF-β signaling
Truncated LTBP-1 disrupts TGF-β signaling, affecting hair growth.
research Trichohyalin Mechanically Strengthens the Hair Follicle
Trichohyalin makes hair follicles stronger.