research Physiological Functions of PP2A: Lessons from Genetically Modified Mice
Mice studies show that Protein Phosphatase 2A is crucial for cell growth, development, and disease prevention.
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research Dermatologic Manifestations of Endocrine Disorders
Skin changes can help diagnose and manage endocrine disorders like thyroid problems, diabetes, and adrenal gland conditions.
research Role of S-Palmitoylation by ZDHHC13 in Mitochondrial Function and Metabolism in Liver
ZDHHC13 is important for normal liver function and metabolism, affecting mitochondrial activity.
research Bi-Allelic Mutations in LSS, Encoding Lanosterol Synthase, Cause Autosomal-Recessive Hypotrichosis Simplex
Mutations in the LSS gene cause a rare type of hereditary hair loss.
research Adrenal Disorders and the Pediatric Brain: Pathophysiological Considerations and Clinical Implications
Adrenal disorders can cause lasting brain and behavior issues in children.
research De Novo Single-Nucleotide and Copy Number Variation in Discordant Monozygotic Twins Reveals Disease-Related Genes
The research found genetic differences in identical twins that could explain why one twin has a disease while the other does not.
research Dermatological Manifestations of Down's Syndrome
People with Down's syndrome often have more skin problems due to a weak immune system.
research Treatment of Alopecia Areata in Pre-Adolescent Children with Oral Tofacitinib: A Retrospective Study
Oral tofacitinib may effectively treat hair loss in children with alopecia areata.
research Ptosis in Childhood: Causes, Clinical Presentations, and Management
Childhood ptosis can vary from a minor cosmetic issue to a serious condition and may signal other health problems.
research Sebaceous Gland Abnormalities in Fatty Acyl CoA Reductase 2 (Far2) Null Mice Result in Primary Cicatricial Alopecia
Deleting the Far2 gene in mice causes sebaceous gland issues and patchy hair loss.
research Male Fertility and Skin Diseases
Some skin diseases and their treatments can negatively affect male fertility.
research Whole Exome Sequencing in Alopecia Areata Identifies Rare Variants in KRT82
Rare changes in the KRT82 gene are linked to a higher risk of Alopecia Areata.
research A Disease-Causing Novel Missense Mutation in the ST14 Gene Underlies Autosomal Recessive Ichthyosis with Hypotrichosis Syndrome in a Consanguineous Family
A new mutation in the ST14 gene causes a rare skin and hair disorder in a specific family.
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 Variable Expressivity of Syndromic BMP4-Related Eye, Brain, and Digital Anomalies: A Review of the Literature and Description of Three New Cases
BMP4-related anomalies can cause a wide range of eye, brain, and hand/foot problems, and new cases show this variability.
research A Rare Cutis Verticis Gyrata Secondary to Cerebriform Intradermal Nevus: Case Report and Literature Review
A man's unusual scalp folds caused by a skin condition were treated with surgery and remained unchanged two years later.
research Cyclical Dermal Micro-Niche Switching Governs the Morphological Infradian Rhythm of Mouse Zigzag Hair
Mouse zigzag hair bends form due to a 3-day cycle of changes in hair progenitors and their environment.
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 Secondary Amenorrhea: Causes, Diagnosis, and Treatment
Secondary amenorrhea has many causes and requires thorough evaluation to treat and restore menstrual cycles.
research Entrepreneurship in Off-Label Drug Prescription: Just What the Doctor Ordered!
The conclusion is that off-label drug use can lead to important medical discoveries and improve patient care.
research MendelVar: Gene Prioritization at GWAS Loci Using Phenotypic Enrichment of Mendelian Disease Genes
MendelVar is a tool that helps identify important genes by combining GWAS data with Mendelian disease information.
research Assessment of Digital Screen Use by Children and Adolescents During the Pandemic
Children's screen time increased during the pandemic, causing various health issues.
research Minoxidil Regulates Aging-Like Phenotypes in Rat Cortical Astrocytes In Vitro
Minoxidil may help reduce aging effects in brain cells.
research Writer’s Cramp Presentation of Woodhouse–Sakati Syndrome – Out of the Woods
Woodhouse-Sakati syndrome can cause writer's cramp and other varied symptoms, highlighting the importance of genetic testing for diagnosis.
research Association of Trichorhinophalangeal Syndrome and Loose Anagen Syndrome: A Case Report
A family was found with both Trichorhinophalangeal syndrome and Loose Anagen Syndrome, suggesting a genetic connection.
research Congenital Triangular Alopecia: A Case of Effective Response with 5% Topical Minoxidil in a Male Adolescent
5% topical minoxidil effectively treated a boy's congenital triangular alopecia without side effects.
research Polyglandular Syndrome Type 1 Complicated with Dilated Cardiomyopathy: A Case Report
A 27-year-old with APS-1 showed improvement in symptoms after treatment.
research Effect of Applying Lactiplantibacillus Plantarum Subsp. Plantarum N793 to the Scalps of Men and Women with Thinning Hair: A Randomized, Double-Blind, Placebo-Controlled, Parallel-Group Study
N793 may improve hair density in people with mild hair thinning.
research Dysregulation of the Immune System in a Natural History Study of 1299 Individuals with Down Syndrome
People with Down syndrome have higher rates of certain immune-related conditions and need special medical attention.
research The Importance of Pharmaceutical Care in the Face of Increasing Prescription and Indiscriminate Use of Anxiolytics with a Focus on Benzodiazepines and Passiflora Incarnata L.
Pharmacists play a key role in managing the use of anxiety medications and ensuring patients use them correctly.