research An Autosomal Recessive Form of Monilethrix Is Caused by Mutations in DSG4: Clinical Overlap with Localized Autosomal Recessive Hypotrichosis
Mutations in the DSG4 gene cause a severe form of brittle hair and skin issues.
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research PKC downregulation upon rapamycin treatment attenuates mitochondrial disease
Rapamycin treatment helps with mitochondrial disease by reducing PKC levels.
research Tfap2b specifies an embryonic melanocyte stem cell that retains adult multi-fate potential
The gene Tfap2b is essential for creating a type of stem cell in zebrafish that can become different pigment cells.
research Polarity signaling ensures epidermal homeostasis by coupling cellular mechanics and genomic integrity
Par3 protein is essential for skin cell balance and stability.
research Impaired wound healing in transgenic mice overexpressing the activin antagonist follistatin in the epidermis
Overexpressing follistatin in mice delays wound healing and reduces scar size.
research Hutchinson-Gilford syndrome: History, causes, phenotype and research advances
Hutchinson-Gilford Progeria Syndrome causes rapid aging from a genetic mutation, with no cure but ongoing research into potential treatments.
research Nevoid basal carcinoma syndrome (Gorlin syndrome) and pronounced androgenic alopecia in a woman with a novel mutation p.Leu1159fsx32 in the PTCH gene
A woman with a new PTCH gene mutation has both Gorlin syndrome and severe hair loss.
research Role of S-Palmitoylation by ZDHHC13 in Mitochondrial function and Metabolism in Liver
ZDHHC13 is important for normal liver function and metabolism, affecting mitochondrial activity.
research Targeted Inactivation of Gh/Tissue Transglutaminase II
Tgm2 helps stabilize dying cells and aids fibroblast attachment to the extracellular matrix.
research Platelet-derived chemokines promote skeletal muscle regeneration by guiding neutrophil recruitment to injured muscles
Platelet-derived chemokines help muscle healing by attracting neutrophils to injured areas.
research Activin Controls Skin Morphogenesis and Wound Repair Predominantly via Stromal Cells and in a Concentration-Dependent Manner via Keratinocytes
Activin helps skin growth and healing mainly through stromal cells and affects keratinocytes based on its amount.
research The citrullinating enzyme PADI4 governs progenitor cell proliferation and translation in developing hair follicles
PADI4 enzyme slows down cell growth in developing hair follicles.
research Animal models of human skin disease
Mutations in certain skin proteins cause severe skin issues, while others have limited effects, highlighting the need to understand these proteins for better treatments.
research sm“FISH”ing for Hedgehog
Hedgehog signaling controls hair follicle development and can affect skin cancer growth.
research Monilethrix: the use of tricoscopy in clinical diagnosis
Monilethrix is a genetic disorder causing brittle hair, diagnosed using tricoscopy.
research The PER3 rs772027021 SNP induces pigmentation phenotypes of dyschromatosis universalis hereditaria
The PER3 rs772027021 SNP may cause mild skin pigmentation changes in a new subtype of dyschromatosis universalis hereditaria.
research Editor's evaluation: Plant Trans-Golgi Network/Early Endosome pH regulation requires Cation Chloride Cotransporter (CCC1)
CCC1 is crucial for pH balance in plant cells, affecting growth and stress tolerance.
research Analysis of the function of ADAM17 in iRhom2 curly-bare and tylosis with esophageal cancer mutant mice
Mutations in iRhom2 affect hair and skin in mice and are linked to esophageal cancer, with ADAM17 playing a crucial role.
research Signal integrator function of CXXC5 in Cancer
CXXC5 can both suppress and promote cancer, making it a complex target for treatment.
research An epidermis‐permeable dipeptide is a potential cosmetic ingredient with partial agonist/antagonist activity toward fibroblast growth factor receptors
Pro-Ile could be used in cosmetics to improve skin, hair growth, and healing.
research Data Sheet 1_The clinical features, muscle pathology, and role of autophagy in anti-Ku-positive patients.docx
Anti-Ku-positive patients often have muscle weakness and autophagy plays a key role in their condition.
research Mrp3, a Mitogen-Regulated Protein/Proliferin Gene Expressed in Wound Healing and in Hair Follicles
Mrp3 may aid in wound healing and hair growth.
research Genetic alteration of cyclic adenosine 3',5'-monophosphate-dependent protein kinase subunit expression affects calcium currents and beta-endorphin release in AtT-20 clonal pituitary cells.
Changing protein kinase levels in pituitary cells affects calcium flow and beta-endorphin release.
research Premature aging syndromes: From patients to mechanism
Studying premature aging syndromes helps understand human aging and suggests potential treatments.
research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.
research Endoplasmic reticulum stress at the crossroads of progeria and atherosclerosis
A defective protein in progeria causes cell death and atherosclerosis, but a treatment targeting cell stress may reduce these effects.
research Alkaline Phosphatase–Regulated C–C Motif Chemokine Ligand 5 (CCL5) Functions as a Critical Mediator of Hair Follicle Neogenesis
research Characterization of Human Keratin-Associated Protein 1 Family Members
Mutations in hKAP1 genes may cause hereditary hair disorders.
research Mutations in the Desmoglein 4 Gene Are Associated with Monilethrix-like Congenital Hypotrichosis
Mutations in the DSG4 gene can cause a rare hair disorder similar to monilethrix.
research Familial 1q22 microduplication associated with psychiatric disorders, intellectual disability and late-onset autoimmune inflammatory response
A specific genetic change is linked to mental disorders, intellectual disability, and possibly autoimmune disease in a family.