research Prenatal diagnosis of a fetus harboring an intermediate load of the A3243G mtDNA mutation in a maternal carrier diagnosed with MELAS syndrome
Prenatal genetic diagnosis may not predict MELAS syndrome severity in offspring.
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research A Critical Evaluation of Evaluations for Long-form Question Answering
Current methods can't accurately predict which long-form answers people prefer; evaluations should consider different answer qualities separately.
research The remarkable legacy of the K6/ODC mouse: mechanisms of polyamine-promoted tumorigenesis revealed
Polyamines are crucial for skin tumor development, and inhibiting them can prevent tumors.
research SAT-148 Late Diagnosis of Klinefelter Syndrome: Overcoming Phenotypic Variability and Diagnostic Oversights
Early physical exams are crucial for timely Klinefelter syndrome diagnosis.
research Ectoderm-Targeted Overexpression of the Glucocorticoid Receptor Induces Hypohidrotic Ectodermal Dysplasia
Overexpression of the glucocorticoid receptor in mice causes developmental defects similar to ectodermal dysplasia.
research Ectopic Sebaceous Glands in the Hair Follicle Matrix: Case Reports and Literature Review of this Embryogenic Anomaly
The cause and importance of misplaced oil glands in the hair follicle are not well understood.
research Coexistence of a Basal Cell Carcinoma and Leiomyosarcoma: An Unusual Collision Tumor
Recognizing rare tumor combinations is crucial for accurate diagnosis and treatment.
research Alopecia secondary to repaired occipital encephalocele - role of tissue expander in hair restoration.
Hair loss due to a repaired brain bulge was successfully treated using a tissue expansion technique.
research Isolated Human Skin Glands and Appendages: Models for Cystic Fibrosis, Acne Vulgaris, Alopecia and Hidradenitis Suppurativa
research [Genetic counseling in a case of neuro-ectodermosis: Vera Price trichothiodystrophy. Brittle hair with reduced sulfur content].
research Cantú syndrome with coexisting familial pituitary adenoma
Cantú syndrome may be linked to pituitary adenomas.
research Current Protocols: Alopecia Areata Mouse Models for Drug Efficacy and Mechanism Studies
The C3H/HeJ mouse model is useful for studying and testing treatments for alopecia areata.
research HOXC8 initiates an ectopic mammary program by regulating Fgf10 and Tbx3 expression, and Wnt/β-catenin signaling
Hoxc8 gene helps start mammary gland development by controlling specific signals.
research [Studies on monilethrix].
Monilethrix is not caused by a metabolic defect.
research Double-Lined Frontoparietal Scleroderma en coup de sabre
The condition might be caused by genetic changes after birth.
research Defective trophoblast function in mice with a targeted mutation of Ets2
Ets2 gene is crucial for placental development in mice.
research The Role of Cognitions and Beliefs in Trichotillomania: A Qualitative Study Using Interpretative Phenomenological Analysis
Cognitions significantly influence Trichotillomania, suggesting cognitive therapies could help.
research Left-sided excess of melanoma occurrence but not of other skin cancers: Additional evidence
Melanoma occurs more on the left side of the body, unlike other skin cancers.
research Microsporum gypseum isolated from a feline case of dermatophytosis
A young cat had a rare fungal infection caused by Microsporum gypseum.
research Infantile vitiligo and alopecia in immunodysregulation polyendocrinopathy enteropathy X‐linked syndrome
Early recognition of symptoms is crucial for treating IPEX syndrome with a stem cell transplant.
research Alopecia areata: Animal models illuminate autoimmune pathogenesis and novel immunotherapeutic strategies
Animal models have helped understand hair loss from alopecia areata and find new treatments.
research A novel mutation in the FERMT1 gene in a Spanish family with Kindler’s syndrome
Researchers found a new mutation in the FERMT1 gene in a Spanish family with Kindler syndrome.
research Bachmann–Bupp syndrome and treatment
DFMO treatment improves hair growth, muscle tone, and development in Bachmann-Bupp syndrome patients.
research 554 Repurposing a clinical antimalarial for the therapeutic induction of lethal ER stress targeting BRAF-kinase inhibitor-resistant malignant melanoma
Mefloquine, an antimalarial drug, is effective in killing melanoma cells resistant to other treatments by causing lethal stress in the cells.
research The Future of Aesthetic Medicine: Patient‐Centered Trends and Technologies with Dr. Face and Dr. Slim
Aesthetic medicine is focusing more on patient needs and using new technologies, but ethical issues and regulation challenges need attention.
research In vitro skin models to study epithelial regeneration from the hair follicle
PSU are better than THF at regenerating skin layers in lab models.
research Clinical management of patients withASXL1mutations and Bohring-Opitz syndrome, emphasizing the need for Wilms tumor surveillance
Patients with Bohring-Opitz syndrome and ASXL1 mutations need regular kidney ultrasounds to check for tumors.
research Bloom's syndrome–‐a first report from India
A 6-year-old boy in India was diagnosed with Bloom's syndrome, showing growth and developmental issues, and skin problems worsened by sunlight.
research Distinct transcriptomic landscapes of cutaneous basal cell carcinomas and squamous cell carcinomas
Human basal cell carcinomas and squamous cell carcinomas have unique gene expression patterns not fully mirrored in mouse models.
research A novel nonsense mutation in the STS gene in a Pakistani family with X-linked recessive ichthyosis: including a very rare case of two homozygous female patients
A new mutation in the STS gene causes X-linked ichthyosis, even in rare female cases.