research Read-Through for Nonsense Mutations in Type XVII Collagen-Deficient Junctional Epidermolysis Bullosa
A new therapy for a skin blistering condition has not been developed yet.
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180-210 / 1000+ resultsresearch 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 Intra-Host SARS-CoV-2 Single-Nucleotide Variants Emerged During the Early Stage of COVID-19 Pandemic Forecast Population Fixing Mutations
Some early COVID-19 mutations in patients predicted future common virus mutations.
research Two Mutations at KRT74 and EDAR Synergistically Drive the Fine-Wool Production in Chinese Sheep
Two mutations in KRT74 and EDAR genes cause sheep to have finer wool.
research The Opportunities and Challenges Regarding Induced Platelets from Human Pluripotent Stem Cells
Human pluripotent stem cells could be used to make platelets for medical use, but safety, effectiveness, and cost issues need to be resolved.
research Regeneration, Wound Healing, and Cancer
The document concludes that while some organisms can regenerate body parts, mammals generally cannot, and cancer progression is complex, involving mutations rather than a strict stem cell hierarchy.
research Current Genetics in Hair Diseases
Genetic mutations cause various hair diseases, and whole genome sequencing may reveal more about these conditions.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Brain And Muscle Arnt-Like Protein-1 (BMAL1) Controls Circadian Cell Proliferation And Susceptibility To UVB-Induced DNA Damage In The Epidermis
BMAL1 controls skin cell growth and UV damage risk, peaking at night.
research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
research Inactivation of the Vitamin D Receptor Enhances Susceptibility of Murine Skin to UV-Induced Tumorigenesis
Mice without the vitamin D receptor are more prone to UV-induced skin tumors.
research Mutations in Three Genes Encoding Proteins Involved in Hair Shaft Formation Cause Uncombable Hair Syndrome
Mutations in three genes cause Uncombable Hair Syndrome, leading to frizzy hair that can't be combed flat.
research Mutations in the Vitamin D Receptor and Hereditary Vitamin D-Resistant Rickets
Mutations in the vitamin D receptor cause hereditary vitamin D-resistant rickets, leading to poor bone health and requiring high calcium doses for treatment.
research Variant PADI3 in Central Centrifugal Cicatricial Alopecia
Mutations in the PADI3 gene are linked to a higher risk of scarring hair loss in women of African descent.
research Congenital Hair Loss Disorders: Rare, But Not Too Rare
Some hair loss disorders are caused by genetic mutations affecting hair growth.
research Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome
Changes in the SREBF1 gene cause a rare genetic skin and hair disorder.
research IL-36γ Drives Skin Toxicity Induced by EGFR/MEK Inhibition and Commensal Cutibacterium Acnes
A protein called IL-36γ causes skin side effects from certain cancer treatments when combined with a common skin bacteria.
research FOXN1 Deficient Nude Severe Combined Immunodeficiency
FOXN1 gene mutations cause a rare, severe immune disease treatable with cell or tissue transplants.
research WNT10A, Dermatology and Dentistry
Mutations in the WNT10A gene can cause skin, hair, teeth, and other disorders, and may also affect other areas like kidney and cancer, with potential for targeted treatments.
research Non-Canonical Dimerization of the Androgen Receptor and Other Nuclear Receptors: Implications for Human Disease
Mutations in certain receptors can cause diseases and offer new treatment options.
research Biallelic HEPHL1 Variants Impair Ferroxidase Activity and Cause an Abnormal Hair Phenotype
Mutations in the HEPHL1 gene cause abnormal hair and cognitive issues.
research Effects of Lespedeza Cuneata Aqueous Extract on Testosterone-Induced Prostatic Hyperplasia
Lespedeza cuneata extract may help treat enlarged prostate.
research High-Resolution Structures of Mutants Affecting Access to the Ligand-Binding Cavity of Human Lipocalin-Type Prostaglandin D Synthase
Mutations in the enzyme don't significantly change how it binds to its specific substances.
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 MmuPV1-Induced Cutaneous Squamous Cell Carcinoma Arises Preferentially from Lgr5+ Epithelial Progenitor Cells
Skin cancer often starts from Lgr5+ progenitor cells.
research Azathioprine-Induced Alopecia Totalis and Knuckle Hyperpigmentation in a Child with Uveitis: Test Before You Leap!
Monitor for early signs of azathioprine toxicity and check blood counts regularly.
research Vorasidenib-Induced Trichomegaly and Hypertrichosis: A New Side Effect in a Patient with Diffuse Astrocytoma
Vorasidenib can cause unusual hair growth.
research iTRAQ-Based Quantitative Proteomics Revealing the Therapeutic Mechanism of a Medicinal and Edible Formula YH0618 in Reducing Doxorubicin-Induced Alopecia by Targeting Keratins and TGF-β/Smad3 Pathway
YH0618 helps reduce chemotherapy-induced hair loss by targeting specific proteins and pathways.
research KATP Channels in Zebrafish Cardiovascular System: A Model to Study Cantú Syndrome
Zebrafish with mutations similar to human Cantú Syndrome have heart cells with altered channel properties, making them a good model to study the condition.
research Comparison of DNA Repair Systems in Infant, Children, or Adult Skin Cells—Impact of Full-Solar-Spectrum Irradiation
Infant skin cells may be less capable of repairing UV-induced DNA damage than adult cells.