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.
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research Site of Beige and Leaden Pigment Gene Expression Determined by Recombinant Embryonic Skin Grafts and Aggregation Mouse Chimaeras Employing Sash Homozygotes
Beige and leaden pigment genes act within melanocytes, affecting pigment patterns.
research Activation of Astrocytes In Vitro by Macrophages Polarized with Keratin Biomaterial Treatment
Keratin treatment reduces astrocyte reactivity and inflammation.
research Next-Generation Sequencing Identified a Novel EDA Mutation in a Chinese Pedigree of Hypohidrotic Ectodermal Dysplasia with Hyperplasia of the Sebaceous Glands
A new EDA gene mutation was found in a Chinese family with a specific skin disorder.
research A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle
A specific genetic change in the KRT71 gene causes a hair loss condition in Hereford cattle.
research 26SCS-Loaded SilMA/Col Composite Sponge with Well-Arranged Layers Promotes Angiogenesis-Based Diabetic Wound Repair by Mediating Macrophage Inflammatory Response
The composite sponge helps heal diabetic wounds by reducing inflammation and promoting new blood vessel growth.
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 Increased Susceptibility to Skin Carcinogenesis Associated with a Spontaneous Mouse Mutation in the Palmitoyl Transferase Zdhhc13 Gene
A mouse gene mutation increases the risk of skin cancer.
research Human Clinical Phenotype Associated With FOXN1 Mutations
FOXN1 mutations cause severe immunodeficiency, hair loss, nail issues, and thymus defects.
research Premature Termination of Hair Follicle Morphogenesis and Accelerated Hair Follicle Cycling in Iasi Congenital Atrichia (fzica) Mice Points to Fuzzy as a Key Element of Hair Cycle Control
The fuzzy gene is crucial for controlling hair growth cycles.
research Nanofiber-Mediated Sequential Photothermal Antibacteria and Macrophage Polarization for Healing MRSA-Infected Diabetic Wounds
The nanofibers effectively treated infected diabetic wounds by killing bacteria and aiding wound healing without toxicity.
research The Polycystic Ovary Syndrome: Challenges and Opportunities in Adolescent Medicine
Early treatment of PCOS in teens is crucial to prevent long-term health issues like diabetes and heart disease.
research Developing Human Fetal Skin Demonstrates a Unique Lymphocyte Signature
Fetal skin has unique immune cells different from adult skin.
research Twins With Psychiatric Features and a Nonsense HRAS Variant Affecting Transcript Processing
A new HRAS gene variant may cause a range of symptoms including intellectual disability and psychiatric issues.
research Update on Detection, Morphology, and Fragility in Pili Annulati in Three Kindreds
Careful light microscopy is crucial for detecting mild cases of pili annulati, which weakens hair and varies widely in expression.
research The Senescence–Stemness Alliance: A Cancer-Hijacked Regeneration Principle
Cancer can hijack the body's cell repair system to promote tumor growth, and targeting this process may improve cancer treatments.
research Baldness And The Androgen Receptor: The AR Polyglycine Repeat Polymorphism Does Not Confer Susceptibility To Androgenetic Alopecia
AR polyglycine repeat doesn't cause baldness.
research The Prevalence of Metabolic Disorders in Various Phenotypes of Polycystic Ovary Syndrome: A Community-Based Study in Southwest Iran
Different types of PCOS have different levels of metabolic problems, with the most severe type showing the highest disturbances.
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 Mutations in Sterol O-Acyltransferase 1 (SOAT1) Result in Hair Interior Defects in AKR/J Mice
A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
research Clinical and Laboratory Indicators of Polycystic Ovary Syndrome in Chinese Han Nationality with Different Rotterdam Criteria-Based Phenotypes
Different types of PCOS in Chinese Han women show varying levels of male hormone and metabolic issues.
research Hereditary Vitamin D-Resistant Rickets in Lebanese Patients: The p.R391S and p.H397P Variants Have Different Phenotypes
Two different mutations in the vitamin D receptor gene cause different symptoms and responses to treatment in Lebanese patients with hereditary rickets.
research PNKP Is Required for Maintaining the Integrity of Progenitor Cell Populations in Adult Mice
PNKP is essential for keeping adult mouse progenitor cells healthy and growing normally.
research Association Between Vitamin D and Zinc Levels With Alopecia Areata Phenotypes at a Tertiary Care Center
Low Vitamin D is common in people with Alopecia Areata, but its impact on the condition needs more research.
research Polycystic Ovarian Morphology Is Associated with Hyperandrogenemia and Insulin Resistance in Women with Polycystic Ovary Syndrome
Women with PCOS and polycystic ovaries have higher male hormone levels and more insulin resistance, especially if they are overweight.
research Scaffolds for Epithelial and Hair Follicle Regeneration
Electrospun matrices help regenerate skin and hair follicles using PCL and collagen scaffolds.
research An Unusual Cause of Primary Amenorrhea
The 18-year-old girl likely has a condition called müllerian agenesis, which caused her to not have a uterus and experience no menstrual periods.
research Effects of the Bovine Slick Mutation on Heat Stress Responses and Hair Growth in Mice
The mutation helps mice handle heat better without affecting hair growth.
research Comparison of Androgenic Hormone Levels in Various Phenotypes of Polycystic Ovarian Syndrome in High School Girls Aged 14 to 18 Years
Girls with PCOS and menstrual disorders have notably higher androgen hormone levels.
research ATP-Competitive mTOR Kinase Inhibitors Delay Plant Growth by Triggering Early Differentiation of Meristematic Cells Without Developmental Patterning Change
Certain inhibitors slow down plant growth by causing early cell specialization without changing the cell development pattern.