research Cantú Syndrome Is Caused by Mutations in ABCC9
Cantú syndrome is caused by mutations in the ABCC9 gene.
Search
for
Sort by
Research
120-150 / 1000+ resultsresearch A Novel PLEC Nonsense Homozygous Mutation (c.7159G > T; p.Glu2387*) Causes Epidermolysis Bullosa Simplex with Muscular Dystrophy and Diffuse Alopecia: A Case Report
A new mutation in the PLEC gene causes a rare condition with skin blistering, muscle weakness, and hair loss.
research A Conditional Multi-Trait Sequence GWAS Discovers Pleiotropic Candidate Genes and Variants for Sheep Wool, Skin Wrinkle, and Breech Cover Traits
Researchers found genes and genetic variants linked to sheep wool and skin wrinkles.
research Shortcutting the Diagnostic Odyssey: The Multidisciplinary Program for Undiagnosed Rare Diseases in Adults (UD-PrOZA)
The UD-PrOZA program successfully diagnosed 18% of adult patients with rare diseases, often using genetic testing.
research A New Heterozygous Frameshift Variant in Keratin 10 Resulting in Ichthyosis Hystrix in a Father and Daughter
A new genetic change in the keratin 10 gene caused a skin condition called ichthyosis hystrix in a father and his daughter.
research The JAK/STAT Signaling Pathway: From Bench to Clinic
The JAK/STAT pathway is important in cell processes and disease, and JAK inhibitors are promising for treating related conditions.
research Defining the Impact of Beta-Catenin/Tcf Transactivation on Epithelial Stem Cells
β-catenin is essential for stem cell activation and proliferation in hair follicles.
research Inflammatory Vegetative Lesions of the Perineum: A Rare and Severe Clinical Presentation of Netherton Syndrome
Netherton Syndrome can cause severe skin lesions in rare cases.
research Age-Associated Inflammation Inhibits Epidermal Stem Cell Function
Aging causes skin stem cells to work less effectively.
research Air Pollution, Autophagy, and Skin Aging: Impact of Particulate Matter on Human Dermal Fibroblasts
Air pollution (PM10) increases skin inflammation and aging by reducing collagen and may trigger a repair response in skin cells.
research Effect of Long-Term Fluticasone Treatment on Immune Function in Horses with Heaves
Long-term fluticasone treatment does not harm the immune system in horses with heaves.
research Molecular Genetics of Keratinization Disorders: What's New About Ichthyosis
Over 67 genes linked to ichthyosis help improve diagnosis and treatment.
research Hairless-Knockout Piglets Generated Using CRISPR/Cas9 Exhibit Abnormalities in Skin and Thymus
Pigs without the Hairless gene showed skin and thymus changes, useful for studying human hair disorders.
research Non-Classic Congenital Adrenal Hyperplasia Due to 21-Hydroxylase Deficiency Revisited: An Update with a Special Focus on Adolescent and Adult Women
The update highlights that non-classic congenital adrenal hyperplasia is common in women with excess male hormones, requires specific hormone tests for diagnosis, and has various treatment options depending on age and symptoms.
research Combined Deletion of the Vitamin D Receptor and Calcium-Sensing Receptor Delays Wound Re-Epithelialization
Removing vitamin D and calcium receptors in mice skin cells slows down skin wound healing.
research Time-Course RNA-Seq Analysis Reveals Stage-Specific and Melatonin-Triggered Gene Expression Patterns During the Hair Follicle Growth Cycle in Capra Hircus
Melatonin affects when and how goat hair follicle genes turn on and off during growth cycles.
research Corticotropin-Releasing Hormone and the Skin
CRH in the skin acts like the body's stress response system, affecting cell behavior and immune activity.
research Reshaped DNA Methylation Cooperating with Homoeolog-Divergent Expression Promotes Improved Root Traits in Synthesized Tetraploid Wheat
DNA changes in tetraploid wheat improve root growth and nitrogen use.
research Control of Hair Growth and Follicle Size by VEGF-Mediated Angiogenesis
VEGF helps hair grow and determines follicle size by increasing blood vessel growth.
research Role of Stearoyl-CoA Desaturase-1 in Skin Integrity and Whole Body Energy Balance
SCD1 is crucial for skin health and overall energy balance.
research Androgens and Ovarian Function: Translation from Basic Discovery Research to Clinical Impact
Androgens are important for female fertility and could help in IVF treatment, but also play a role in causing PCOS.
research Transglutaminase 3: The Involvement in Epithelial Differentiation and Cancer
TGM3 is important for skin and hair structure and may help diagnose cancer.
research Thymic Mesenchymal Cells Have a Distinct Transcriptomic Profile
Thymic mesenchymal cells have unique gene expression that supports their specific functions in the thymus.
research Autophagy Protects Murine Preputial Glands Against Premature Aging and Controls Their Sebum Phospholipid and Pheromone Profile
Autophagy prevents early aging and maintains lipid and pheromone balance in mouse glands.
research Spatiotemporal Labeling of Melanocytes in Mice
The research showed how melanocytes develop, move, and respond to UV light, and their stem cells' role in hair color and skin cancer risk.
research A TP63 Mutation Causes Prominent Alopecia with Mild Ectodermal Dysplasia
A TP63 gene mutation causes significant hair loss and mild skin, nail, and tooth abnormalities.
research Novel Androgen Receptor Gene Variant Containing a Premature Termination Codon in a Patient with Androgen Insensitivity Syndrome
A new genetic change causing early stop in the androgen receptor gene was found in a patient with androgen insensitivity syndrome.
research BUZZ: An Essential Gene for Postinitiation Root Hair Growth and a Mediator of Root Architecture in Brachypodium Distachyon
The BUZZ gene is important for root hair growth and overall root structure in the plant Brachypodium distachyon.
research Irreversible And Severe Alopecia Following Docetaxel Or Paclitaxel Cytotoxic Therapy For Breast Cancer
Docetaxel and paclitaxel for breast cancer can cause permanent, severe hair loss.
research A Missense Mutation in the P2RY5 Gene Leading to Autosomal Recessive Woolly Hair in a Syrian Patient
A gene mutation causes woolly hair in a Syrian patient.