research Loss of Msx2 Function Down-Regulates the FoxE3 Expression and Results in Anterior Segment Dysgenesis Resembling Peters Anomaly
Loss of Msx2 function causes eye development issues similar to Peters anomaly.
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150-180 / 1000+ resultsresearch Androgen Treatment in Adolescent Males With Hypogonadism
Testosterone therapy helps boys with hormone deficiencies develop normal male characteristics and grow properly.
research Adult Kawasaki's Disease with Myocarditis, Splenomegaly, and Highly Elevated Serum Ferritin Levels
Kawasaki's disease can occur in adults and should be considered with specific symptoms and high ferritin levels.
research RSPO1-Mutated Keratinocytes From Palmoplantar Keratoderma Display Impaired Differentiation and Invasiveness: Implications for Squamous Cell Carcinoma Susceptibility in Patients With 46XX Disorder of Sexual Development
RSPO1 mutations in certain patients lead to skin cells that don't develop properly and are more likely to become invasive, increasing the risk of skin cancer.
research RBPJ Mutations Identified in Two Families Affected by Adams-Oliver Syndrome
Mutations in the RBPJ gene cause Adams-Oliver Syndrome.
research High-Throughput Sequencing to Identify Monogenic Etiologies in a Preselected Polycystic Ovary Syndrome Cohort
Some women with PCOS have rare genetic variants linked to the condition.
research Clinical Snippets: Melanoma Risk Prediction, Monilethrix Mutation, Keratitis-Ichthyosis-Deafness Syndrome, Skin Wrinkling and Lung Aging, Oxidative Stress in Androgenetic Alopecia
Melanoma risk tools need improvement, a gene mutation causes a hair disorder that might be treated by managing cell stress, a potential therapy for a skin-ear disorder involves blocking cell channels, skin wrinkling may indicate lung aging regardless of smoking, and oxidative stress might contribute to common baldness.
research Gene Network Analysis Reveals Candidate Genes Related to Hair Follicle Development in Sheep
Key genes crucial for sheep hair follicle development were identified, aiding fine wool breeding and human hair loss research.
research Generalized Woolly Hair: Case Report and Literature Review
Woolly hair is a rare genetic condition with no effective treatments.
research The Genetics Of Alopecia Areata: New Approaches, New Findings, New Treatments
New genetic discoveries may lead to better treatments for alopecia areata.
research A Rare Case of Woolly Hair with Unusual Associations
The document reports a unique case of woolly hair with a combination of conditions not previously seen together.
research Gain-Of-Function Variants In The ODC1 Gene Cause A Syndromic Neurodevelopmental Disorder Associated With Macrocephaly, Alopecia, Dysmorphic Features, And Neuroimaging Abnormalities
ODC1 gene mutations cause a neurodevelopmental disorder with large head size, hair loss, and facial abnormalities.
research Localized Hypotrichosis Type 1 Due to Intragenic Deletion of Exons 5-8 in Desmoglein Gene in a Neonate from Indian Family
A baby from an Indian family had a rare genetic disorder causing no scalp or body hair due to a specific gene deletion.
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 A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome
A new mutation in the MBTPS2 gene causes a mild form of IFAP syndrome.
research Central Centrifugal Cicatricial Alopecia Amalgamated with Alopecia Areata: Immunologic Findings
The patient with both scarring and non-scarring hair loss showed complex immune reactions and improved with steroid treatment.
research Evidence for a Polygenic Contribution to Androgenetic Alopecia
Hair loss risk is influenced by multiple genes.
research Genotype-Phenotype Correlation in Boys with X-Linked Hypohidrotic Ectodermal Dysplasia
Boys with less severe EDA mutations in XLHED have milder symptoms and better sweat and hair production.
research Rare Clinical Features of the Ellis Van Creveld Syndrome: A Case Report and Literature Review
Ellis van Creveld syndrome, a rare genetic disorder, can cause unexpected abnormalities in various body organs, requiring thorough patient evaluations.
research What Causes Hidradenitis Suppurativa?—15 Years After
Hidradenitis suppurativa is caused by genetic factors, inflammation, bacteria, hormones, and lifestyle factors like obesity and smoking.
research Levetiracetam in the Treatment of Idiopathic Generalized Epilepsies
Levetiracetam is widely used and generally well-tolerated for treating idiopathic generalized epilepsies, with tiredness as the main side effect.
research Identifying Key Components and Therapeutic Targets of the Immune System in Hidradenitis Suppurativa with an Emphasis on Neutrophils
The article suggests that targeting specific immune pathways could help control and treat the skin disease hidradenitis suppurativa.
research A Rare Case of Complete Vogt-Koyanagi-Harada Disease Presenting to a Tertiary Care Hospital in Late Stage: Clinical Features, Diagnosis, and Management
A young woman with late-stage Vogt-Koyanagi-Harada disease was successfully treated at a hospital.
research Generalized Multiple Eruptive Milia in an Infant: An Unusual Presentation
A baby had a rare case of widespread milia, which was treated and is being monitored.
research EDA Missense Variant in a Cat with X-Linked Hypohidrotic Ectodermal Dysplasia
A genetic mutation in the EDA gene causes hypohidrotic ectodermal dysplasia in cats.
research Role of Sulfur Metabolism Gene and High-Sulfur Gene Expression in Wool Growth Regulation in the Cashmere Goat
Certain genes related to sulfur metabolism are more active during the growth phase of Cashmere goat wool, and melatonin might help this process.
research Recurrent Pruritic Polymorphic Lesions Associated With Weight Loss
A man with itchy skin lesions and weight loss was diagnosed with a rare skin condition linked to a pancreatic tumor.
research Novel Missense Mutation in the EDA Gene in a Family Affected by Oligodontia
Researchers found a new mutation in the EDA gene that likely causes missing teeth and mild skin symptoms in one family.
research Folliculosebaceous Neoplasms: A Review of Clinical and Histological Features
The conclusion is that accurately identifying folliculosebaceous tumors requires understanding their clinical signs and microscopic features.
research Biomedical Engineering Approaches for the Delivery of JAGGED1 as a Potential Tissue Regenerative Therapy
JAGGED1 could help regenerate tissues for bone loss and heart damage if delivered correctly.