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.
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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 Paediatric 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 Testosterone and the Brain: From Cognition to Autism
Testosterone affects brain functions and contributes to sex differences, influencing conditions like autism.
research Pan-cancer analysis of microRNA expression profiles highlights microRNAs enriched in normal body cells as effective suppressors of multiple tumor types: A study based on TCGA database
Certain microRNAs found in normal cells can effectively suppress various cancers.
research Ptosis in childhood
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 Common Dermatologic Disorders in Down Syndrome: Systematic Review
People with Down syndrome often have skin issues and need regular check-ups for early treatment.
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 AIMP1-Derived Peptide Secreted from Hair Follicle Stem Cells Promotes Hair Growth by Activating Dermal Papilla Cells
A peptide from hair follicle stem cells can boost hair growth.
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 Framework guidelines for the process of caring for the health of adolescent transgender (T) and non-binary (NB) people experiencing gender dysphoria — the position statement of the expert panel
Provide individualized, supportive care for transgender and non-binary adolescents to improve their well-being.
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
Secondary amenorrhea has many causes and requires thorough evaluation to treat and restore menstrual cycles.
research Childhood onset trichotillomania: a retrospective analysis of 78 cases visiting tertiary general hospital
Children with trichotillomania often pull hair from their scalp and may have other mental health issues.
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 The urine as a diagnostic key for a homozygous EGFR mutation
A rare EGFR mutation in newborns leads to severe health issues and early death.
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 the Ability of the ChatGPT-5 Model to Pass the Endocrinology Specialization Exam
ChatGPT-5 can pass the endocrinology exam but isn't fully reliable for clinical decisions yet.
research AVALIAÇÃO DO USO DE TELAS DIGITAIS POR CRIANÇAS E ADOLESCENTES EM TEMPOS DE PANDEMIA
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 Diagnosis and treatment of isolated autosomal recessive woolly hair/hypotrichosis
ARWH is a rare hair disorder with no cure, but potential treatments include minoxidil and other therapies.