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research Pitfalls of mapping a large Turkish consanguineous family with vertical monilethrix inheritance.
A mutation in the KRT86 gene causes hair fragility in a Turkish family.
research Recent advances in Forensic DNA Phenotyping of appearance, ancestry and age
Forensic DNA Phenotyping can now better predict appearance, ancestry, and age from DNA, but more research is needed for precise police use.
research Erythema multiforme sparing regressing herpes zoster lesion: “Reverse isotopic phenomenon?”
A patient's skin rash did not affect the area where a previous viral rash was healing, suggesting a rare immune response.
research `Cyclic alopecia' inMsx2mutants: defects in hair cycling and hair shaft differentiation
Msx2-deficient mice experience irregular hair growth and loss due to disrupted hair cycle phases.
research Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment
Early diagnosis and personalized treatment for PCOS are crucial, especially for young women in West Bengal, India.
research GENOTYPE ? PHENOTYPE CORRELATIONS IN CUTANEOUS MELANOMA PATIENTS CARRIER OF THE MITF p.E318K PATHOGENIC VARIANT
MITF+ melanoma patients are more likely to have multiple melanomas and unique skin patterns.
research Big Self-Supervised Models Advance Medical Image Classification
Self-supervised learning improves medical image classification accuracy.
research Breakdown of Immune Tolerance in AIRE-Deficient Rats Induces a Severe Autoimmune Polyendocrinopathy–Candidiasis–Ectodermal Dystrophy–like Autoimmune Disease
AIRE-deficient rats developed severe autoimmune disease similar to APECED, useful for testing treatments.
research GJB6 missense variant in a Labrador Retriever with paw pad hyperkeratosis
A genetic variant in the GJB6 gene likely caused the Labrador's paw pad condition.
research Epidermolysis Bullosa Simplex Keratinocytes Show Disturbed Mitochondrial Positioning and Activity
Skin cells from people with Epidermolysis Bullosa Simplex have abnormally placed and less active mitochondria.
research Structural injustice and the Requirements of Beauty
Beauty standards cause widespread harm and need collective action to address.
research Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat
A patient with a larger than usual genetic mutation had a broader range of symptoms for a muscle disease.
research Identification of a Rare Variant in the SRD5A2 Gene in Siblings With 46,XY Disorders of Sexual Development
A rare gene variant causes sexual development issues in siblings, needing personalized treatment.
research In Search of Predictive Models for Inhibitors of 5-alpha Reductase 2 Based on the Integration of Bioactivity and Molecular Descriptors Data.
The models can help find better inhibitors for conditions like baldness and prostate disorders.
research Analysis of the Top notch reading session in a multimodal perspective
The reading activities used images effectively but didn't develop critical thinking about power and context.
research Establishing an academic laboratory: mentoring as a business model
Valentina Greco emphasizes the importance of combining business management with mentoring to run a successful academic lab.
research MSF-VMDNet for multi class segmentation of skin cancer whole slide images using a multi frequency dual encoder network
MSF-VMDNet accurately segments skin cancer images better than existing methods.
research The Comparator Argument in Trans-Healthcare Ban Cases
Denying transgender minors gender-affirming care, while allowing it for cisgender minors, is sex discrimination.
research My First Terrible Diagnosis
The medical student learned to balance medical knowledge with empathy when delivering difficult news to patients.
research Role of foxn1 in Xenopus laevis thymopoiesis.
FOXN1 is crucial for thymus development and immune response in Xenopus laevis.
research Nailing It
The document concludes that a new training model could improve dermatology residents' skills in nail procedures and lead to more nail cases being treated by dermatologists.
research 3D cell culture stimulates the secretion of in vivo like extracellular vesicles
3D cell cultures produce extracellular vesicles similar to those in the body.
research Mister XX
Most 46XX CAH patients have female identity, but a few identify as male and may need treatment and surgery.
research Pseudoxanthoma-like late-onset focal dermal elastosis
A woman had a skin condition with increased normal elastic fibers, not related to other known disorders, likely due to aging.
research Early Clinical Features in Systemic Lupus Erythematosus: Can They Be Used to Achieve Earlier Diagnosis? A Risk Prediction Model
A risk prediction model can help diagnose systemic lupus erythematosus earlier in primary care.
research Book Reviews
The reviews critique three psychology books, noting skepticism about a personality inventory for teens, praising a practical guide on body image issues, and recommending a book on grief therapy.
research Acknowledging the Clinical Heterogeneity of Lupus Erythematosus
Lupus is a complex disease that requires personalized treatment because it varies greatly between individuals.
research Simultaneous Target-Mediated Drug Disposition-Pharmacodynamic (TMDD-PD) Modeling of Finasteride and Dutasteride: Impact of Target Binding and Turnover on Non-linear Pharmacokinetics
Finasteride and dutasteride's effects are mainly due to target binding saturation and slow enzyme turnover.