research Genome-Wide Target Enrichment-Aided Chip Design: A 66K SNP Chip for Cashmere Goat
Researchers developed a cost-effective 66 K SNP chip for cashmere goats that is accurate and useful for genetic studies.
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research Application of Cell-Derived Extracellular Vesicles and Engineered Nanovesicles for Hair Growth: From Mechanisms to Therapeutics
Tiny natural vesicles from cells might help treat hair loss.
research Cleave But Not Leave: Astrotactin Proteins in Development and Disease
Astrotactin proteins are important for brain and skin development and are linked to several neurodevelopmental disorders.
research The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome
Using SNP array testing helped quickly find the gene causing Woodhouse-Sakati syndrome in two related individuals.
research Comprehensive Overview of Rheumatology Studies: Ottawa, Ontario, Canada, February 13–16, 2013
The document concludes that various findings in rheumatology offer insights into disease severity, treatment responses, and potential risks in medication, with some limitations due to unspecified participant numbers.
research Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
A new mutation in the DCAF17 gene was found in a Chinese family, causing Woodhouse-Sakati syndrome and diabetes.
research Inherited Disorders of the Hair
The document explains the genetic causes and characteristics of inherited hair disorders.
research Proceedings of the RAMI Intern Section Meeting, 18th January 2014
The meeting discussed medical findings, including benefits of certain treatments for cancer and heart conditions, and highlighted issues like poor adherence to preventive measures and skill gaps among interns.
research Abstracts
Get head MRI for babies with achondroplasia early, use free immunoglobulin light chains to detect certain neurodevelopmental disorders, and video calls work for speech therapy in patients with facial anomalies.
research Enhancing Diagnostic Yield of Monogenic Diabetes Through Phenotypic and Molecular Reanalysis of 128 Individuals With Young Onset Hyperglycemia: Highlighting the Significance of Accurate Case Characterization
Combining genetic and physical trait analysis improves diagnosis accuracy for monogenic diabetes.
research The Pattern and Clinical Profile of Alopecia Areata: Panoramic Review, Update, and Advances on Etiopathogenesis, Associated Factors, Diagnosis, Complications, Management, and Prognosis in Treatment 2023
Alopecia areata causes sudden hair loss, has genetic links, and can be managed but not cured.
research Focal Dermal Hypoplasia Associated With Lymphedema: A Case Report From Saudi Arabia
A 12-year-old girl in Saudi Arabia with Focal dermal hypoplasia showed skin and dental symptoms, highlighting the condition's variability and the need for personalized treatment.
research Recent Advances in the Genetics of Alopecia Areata
New research has found 14 genes linked to the risk of developing alopecia areata, improving understanding and treatment options.
research Randomized Split-Side Study Comparing Efficacy of Botulinum Toxin Type A Versus 0.9% Sodium Chloride in Scalp Psoriasis
Botulinum toxin type A significantly reduces scalp psoriasis severity compared to placebo.
research Genetic Defects of Female Sexual Differentiation
Genetic mutations can affect female sexual development, requiring personalized medical care.
research Multi-Ancestry Tandem Repeat Association Study of Hair Color Using Exome-Wide Sequencing
Tandem repeats significantly influence hair color, especially darker shades, across different ancestries.
research Selection Signatures in Goats Reveal a Novel Deletion Mutant Underlying Cashmere Yield and Diameter
A specific genetic deletion in goats affects cashmere yield and thickness.
research Index
The document is a detailed medical reference on skin and genetic disorders.
research Index
The document is a detailed guide on skin conditions and treatments for dermatologists.
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.
research Complete Pseudo-Anodontia in an Adult Woman with Pseudo-Hypoparathyroidism Type 1a: A New Additional Nonclassical Feature?
A woman with a rare hormone resistance condition also had missing teeth and hair loss, which might be new symptoms of her genetic disorder.
research Bioinspired Engineering of ADSC Nanovesicles in Thermosensitive Hydrogel to Enhance Autophagy of Dermal Papilla Cells for Androgenetic Alopecia Treatment
New treatment using engineered nanovesicles in hydrogel improves hair growth by repairing hair follicle cells in a mouse model of hair loss.
research Identification of the KAP27-1 Gene in Sheep and Its Effect on Wool Traits
The KRTAP27-1 gene variations in sheep may affect wool length and weight.
research Deletion of the MAD2L1 Spindle Assembly Checkpoint Gene Is Tolerated in Mouse Models of Acute T-Cell Lymphoma and Hepatocellular Carcinoma
Deleting the MAD2L1 gene is tolerated in certain mouse cancer models.
research Deletion of the MAD2L1 Spindle Assembly Checkpoint Gene Is Tolerated in Mouse Models of Acute T-Cell Lymphoma and Hepatocellular Carcinoma
Deleting the MAD2L1 gene in mice led to rapid tumor growth despite chromosomal instability.
research Wnt/β-Catenin Signaling: Function, Biological Mechanisms, and Therapeutic Opportunities
The Wnt/β-catenin pathway is important for body functions and diseases, and targeting it may treat conditions like cancer, but with safety challenges.
research Polycystic Ovary Syndrome (PCOS): An Inflammatory, Systemic, Lifestyle Endocrinopathy
PCOS is a complex condition in women that can lead to health issues, and lifestyle changes are the best management approach.
research Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans
Common variants in the Trichohyalin gene are linked to straight hair in Europeans.
research Interventions for Central Serous Chorioretinopathy: A Network Meta-Analysis
No single treatment is clearly effective for central serous chorioretinopathy.
research Emerging Roles of Sox6 in the Renal and Cardiovascular Systems
Sox6 is important in heart and kidney health, affecting diseases like diabetes, heart disease, and high blood pressure.