research 1351 Investigation of the molecular identity of the junctional zone in human
GATA6 is important for maintaining and differentiating cells in a key area of human skin.
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research PBX1-SIRT1 Positive Feedback Loop Attenuates ROS-Mediated HF-MSC Senescence and Apoptosis
Increasing PBX1 reduces aging and cell death in hair follicle stem cells by boosting SIRT1 and lowering PARP1 activity.
research A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa
A specific gene mutation causes a severe skin disorder in a family.
research P447: Late onset biotinidase deficiency misdiagnosed as neuromyelitis optica: A case report and review of diagnostic challenges
Biotinidase deficiency can mimic neuromyelitis optica and should be considered for accurate diagnosis and treatment.
research Interações entre malassezia restricta e o micobioma humano: uma perspectiva abrangente
Malassezia restricta may be linked to intestinal diseases like Crohn's and ulcerative colitis.
research Genome-wide DNA methylation and transcriptome analyses reveal the key gene for wool type variation in sheep
The SOSTDC1 gene is crucial for determining sheep wool type.
research Role of cholesterol sulfate in epidermal structure and function: Lessons from X-linked ichthyosis
Cholesterol sulfate buildup due to a genetic mutation disrupts the skin barrier, leading to the scaling skin seen in X-linked ichthyosis.
research Trichodysplasia spinulosa: a polyomavirus infection specifically targeting follicular keratinocytes in immunocompromised patients
Trichodysplasia spinulosa is a rare skin disease in immunocompromised patients caused by a specific virus targeting hair follicle cells.
research De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
research Unique amino acid signatures that are evolutionarily conserved distinguish simple-type, epidermal and hair keratins
Different keratin types have unique amino acid patterns that are evolutionarily conserved.
research Heterozygous KRT32 variant is responsible for autosomal dominant loose anagen hair syndrome
A KRT32 gene variant causes loose anagen hair syndrome.
research Curly : a new hair defect mutation in the SELH/bc mouse strain
The curly mutation in SELH/Bc mice affects hair and may help study human genetic disorders.
research Harlequin ichthyosis (ichq): a juvenile lethal mouse mutation with ichthyosiform dermatitis.
The harlequin ichthyosis mouse mutation causes thick skin and early death, resembling a human skin disorder.
research Human ClinicalPhenotype Associated with FOXN1 Mutations
FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
research A New Case of Trichothiodystrophy Associated with Autism, Seizures, and Mental Retardation
A rare case of trichothiodystrophy was found with autism, seizures, and mental retardation.
research LB943 Tofacitinib treatment of inflammatory skin conditions in patients with Down Syndrome
Tofacitinib helps improve skin conditions in people with Down syndrome, especially alopecia areata.
research Cloning of human, murine, and marsupial keratin 7 and a survey of K7 expression in the mouse
The research cloned keratin 7 genes from humans, mice, and marsupials, found similarities between human and mouse genes, and discovered new areas of K7 expression in mice.
research Does Nicastrin Inadequacy Cause Melanocytotoxicity in Human Skin as in the Fish Counterpart?
Nicastrin deficiency may cause skin cell damage and pigmentation disorders in humans, similar to effects seen in fish.
research Mutations in Homocysteine Metabolism Genes Increase Keratin N-Homocysteinylation and Damage in Mice
Genetic mutations that disrupt homocysteine breakdown lead to increased damage in mouse hair keratin.
research Mapping of monilethrix to the type II keratin gene cluster at chromosome 12q13 in three new families, including one with variable expressivity
Monilethrix is linked to the type II keratin gene on chromosome 12q13.
research 1326 Translation-dependent skin hyperplasia is promoted by type 1/17 inflammation in psoriasis
Type 1/17 inflammation in psoriasis increases skin cell growth due to a molecule that could be a new treatment target.
research Exploring Clinical and Imaging Differences in COVID-19: an Observational Approach to the IFITM3 rs12252 Polymorphism
The G allele of IFITM3 rs12252 is linked to more severe COVID-19.
research Study on the Activity of Sheep High-sulfur Keratin Promoter
The B2C promoter works in sheep cells but not in mouse embryos.
research 689 Cell-type-specific nascent transcriptomics through PRECISE-seq reveal molecular principles of tissue dynamics
research A functional role of S100A4/non-muscle myosin IIA axis for pro-tumorigenic vascular functions in glioblastoma
High S100A4 levels worsen glioblastoma by promoting blood vessel growth.
research Genome Report: chromosome-scale genome assembly of the African spiny mouse (Acomys cahirinus)
The improved genome of the African spiny mouse will help understand its tissue regeneration abilities.
research Keratin intermediate filaments in the colon: guardians of epithelial homeostasis
Keratin proteins are essential for keeping the cells in the human colon healthy and stable.
research Isolation and Characterization of a Putative Keratin-Associated Protein Gene Expressed in Embryonic Skin of Mice
The 4C32 gene may help in mouse skin development and differentiation.
research Keratin 79 identifies a novel population of migratory epithelial cells that initiates hair canal morphogenesis and regeneration
Keratin 79 marks a new group of cells that are key for creating and repairing the hair follicle's structure.
research Genetically engineered biomimetic ATP-responsive nanozyme for the treatment of cardiac fibrosis
A new engineered treatment shows promise in curing heart fibrosis.